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"glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 512, "start_aa": "Asn", "end_pos": 512, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn512", "evidence": [ { "id": "Q91WV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91WV7#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->ISS); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85368268", "evidence": [ { "id": "rs3389464316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389464316" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Asn522", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 522, "start_aa": "Asn", "end_pos": 522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn522", "evidence": [ { "id": "Q91WV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91WV7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WV7", "url": "https://www.uniprot.org/uniprotkb/Q91WV7" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSR); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344621", "evidence": [ { "id": "rs3508154021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508154021" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ile107", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85336179", "evidence": [ { "id": "rs3553460582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553460582" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Cys113", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85336196", "evidence": [ { "id": "rs13468746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468746" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Met13", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85335898", "evidence": [ { "id": "rs3389486794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389486794" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Lys147", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85339883", "evidence": [ { "id": "rs3389441896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441896" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Asp149", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85339888", "evidence": [ { "id": "rs254618073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254618073" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Gly17", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85335908", "evidence": [ { "id": "rs3389464354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389464354" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Lys180", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85339982", "evidence": [ { "id": "rs3389441899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389441899" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Arg226", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85340256", "evidence": [ { "id": "rs3389451179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451179" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Gly23", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85335927", "evidence": [ { "id": "rs13468743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468743" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Gln271", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344647", "evidence": [ { "id": "rs3389498946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498946" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Cys272", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344649", "evidence": [ { "id": "rs3389491853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491853" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Gln276", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344663", "evidence": [ { "id": "rs3389431513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431513" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Glu280", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344674", "evidence": [ { "id": "rs3412866518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412866518" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asn285", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85344688", "evidence": [ { "id": "rs3389464362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389464362" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Glu297", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85354069", "evidence": [ { "id": "rs3389491798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491798" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Gln329", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85354164", "evidence": [ { "id": "rs1134690107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134690107" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "341", "end_pos": "341", "site_lbl": "His341", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85356288", "evidence": [ { "id": "rs243514922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243514922" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85356317", "evidence": [ { "id": "rs3389478980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478980" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Val360", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85356344", "evidence": [ { "id": "rs236488882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236488882" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Phe400", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85359374", "evidence": [ { "id": "rs3389431504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431504" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Glu403", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85359385", "evidence": [ { "id": "rs3389478897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478897" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Met431", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85359469", "evidence": [ { "id": "rs3389491817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491817" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Pro450", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85367163", "evidence": [ { "id": "rs220811504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220811504" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85367186", "evidence": [ { "id": "rs3389486860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389486860" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Gly473", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85367231", "evidence": [ { "id": "rs3389431516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431516" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Tyr478", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85367246", "evidence": [ { "id": "rs3389464351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389464351" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Ser499", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85367309", "evidence": [ { "id": "rs3389478907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389478907" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Trp510", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85368263", "evidence": [ { "id": "rs3389498900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498900" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Asp511", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85368265", "evidence": [ { "id": "rs3389483565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389483565" } ] } ] }, { "uniprot_canonical_ac": "Q91WV7-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Asn515", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "85368278", "evidence": [ { "id": "rs3389451207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389451207" } ] } ] }, { 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regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "positive regulation of exosomal secretion", "id": "GO:1903543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903543", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "regulation of protein complex stability", "id": "GO:0061635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061635", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" } ], "cellular_component": [ { "name": "ESCRT II complex", "id": "GO:0000814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000814", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CZ28", "url": "https://www.uniprot.org/uniprotkb/Q9CZ28" } ], "pmid": "" }, { "name": "nucleoplasm", "id": 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"record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "A7M7C7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A7M7C7", "url": "https://www.uniprot.org/uniprotkb/A7M7C7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1008, "chemical_mass": 105616.0, "gene_names": "Skor2;Corl2;EG664805;Fussel18;Gm7348;Skor2", "protein_name": "SKI family transcriptional corepressor 2", "disease": [ { "disease_id": "DOID:863", "name": "nervous system disease", "description": "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:863", "evidence": [ { "id": "863", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:863" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": 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The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2600", "name": "laryngeal carcinoma", "description": "A larynx cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2600", "evidence": [ { "id": "2600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2600" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046425", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "negative regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042532", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "positive regulation of fibroblast apoptotic process", "id": "GO:2000271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000271", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042509", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043372", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "positive regulation of regulatory T cell differentiation", "id": "GO:0045591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045591", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "negative regulation of hepatic stellate cell proliferation", "id": "GO:1904898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904898", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "negative regulation of CD8-positive, alpha-beta T cell differentiation", "id": "GO:0043377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043377", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "kinase inhibitor activity", "id": "GO:0019210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019210", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35716-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Tyr155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35716", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35716" }, { "database": "PubMed", "id": "22787435", "url": "https://glygen.org/publication/PubMed/22787435" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Tyr204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35716", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35716" }, { "database": "PubMed", "id": "22787435", "url": "https://glygen.org/publication/PubMed/22787435" } ] } ] }, { 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Loss of binding to KIT. No effect on binding to VAV.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" }, { "database": "PubMed", "id": "10064597", "url": "https://glygen.org/publication/PubMed/10064597" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Loss of IL-6 signal transduction suppression. No effect on binding to TYK2.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" }, { "database": "PubMed", "id": "10064597", "url": "https://glygen.org/publication/PubMed/10064597" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Leu175", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Abolishes interaction with elongin BC complex; when associated with F-179.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" }, { "database": "PubMed", "id": "9869640", "url": "https://glygen.org/publication/PubMed/9869640" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Abolishes interaction with elongin BC complex; when associated with P-175.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" }, { "database": "PubMed", "id": "9869640", "url": "https://glygen.org/publication/PubMed/9869640" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Pro51", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on LIF signal transduction suppression.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gly52", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on LIF signal transduction suppression.", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ] } ] }, { "uniprot_canonical_ac": "O35716-1", "start_pos": "53", "end_pos": "53", 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"description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { 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} ], "biological_process": [ { "name": "semicircular canal morphogenesis", "id": "GO:0048752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048752", "evidence": [ { "database": "UniProtKB", "id": "P07214", "url": "https://www.uniprot.org/uniprotkb/P07214" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P07214", "url": "https://www.uniprot.org/uniprotkb/P07214" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P07214", "url": "https://www.uniprot.org/uniprotkb/P07214" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P07214", "url": 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis", "id": "GO:0050765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050765", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "opsonization", "id": "GO:0008228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008228", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P50404", "url": "https://www.uniprot.org/uniprotkb/P50404" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50404-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GDPGLPGPMGLSGLQGPTGPVGPKGENGSAGEPGPKGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "P50404", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50404#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ala309", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NKA->NKT); glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40894493", "evidence": [ { "id": "rs3389316490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389316490" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ala337", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NWA->NWT); glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40894409", "evidence": [ { "id": "rs3389313263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313263" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Gly102", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40899258", "evidence": [ { "id": "rs3389313332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313332" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40898959", "evidence": [ { "id": "rs3389335916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389335916" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ala148", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40898554", "evidence": [ { "id": "rs3389302718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389302718" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ala157", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40898527", "evidence": [ { "id": "rs3389285532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285532" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ala169", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40898491", "evidence": [ { "id": "rs49710131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49710131" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ala185", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40897695", "evidence": [ { "id": "rs3404770149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404770149" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ala188", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40897686", "evidence": [ { "id": "rs8266221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8266221" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Gln191", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "14", "chr_pos": "40897677", "evidence": [ { "id": "rs3389323782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389323782" } ] } ] }, { "uniprot_canonical_ac": "P50404-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Val208", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", 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"uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Arg319", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658507", "evidence": [ { "id": "rs3549082939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549082939" } ] } ], "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Knockin mice display compromised mucus barriers, dysbiosis with reduced bacterial diversity, as well as susceptibility to intestinal inflammation.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ39", "url": "https://www.uniprot.org/uniprotkb/Q9QZ39" }, { "database": "PubMed", "id": "35303419", "url": "https://glygen.org/publication/PubMed/35303419" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Val324", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657929", "evidence": [ { "id": "rs3389223980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223980" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Gly327", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657920", "evidence": [ { "id": "rs3389209185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209185" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Gln330", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657911", "evidence": [ { "id": "rs578847841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578847841" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Pro33", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116666132", "evidence": [ { "id": "rs3549004339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004339" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Arg34", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116666127", "evidence": [ { "id": "rs3402851486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402851486" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Arg356", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657833", "evidence": [ { "id": "rs3549005871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549005871" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Pro362", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657815", "evidence": [ { "id": "rs3389222879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389222879" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Tyr369", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657458", "evidence": [ { "id": "rs3389214730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389214730" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Gln389", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657397", "evidence": [ { "id": "rs579448630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579448630" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Leu391", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657390", "evidence": [ { "id": "rs3549305367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549305367" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657382", "evidence": [ { "id": "rs3549218501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549218501" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Phe399", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657367", "evidence": [ { "id": "rs3402915571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402915571" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Gln404", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657162", "evidence": [ { "id": "rs3389228473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389228473" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Glu405", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657160", "evidence": [ { "id": "rs3549004087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004087" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asn409", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657149", "evidence": [ { "id": "rs586048846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586048846" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Cys40", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660194", "evidence": [ { "id": "rs265751688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265751688" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Leu417", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657123", "evidence": [ { "id": "rs3389155472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389155472" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Gln41", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660189", "evidence": [ { "id": "rs3389218374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389218374" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Arg430", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656998", "evidence": [ { "id": "rs584562512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584562512" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "441", "end_pos": "441", "site_lbl": "His441", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656965", "evidence": [ { "id": "rs3549040585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549040585" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ile444", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656958", "evidence": [ { "id": "rs3549022855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549022855" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Trp44", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660182", "evidence": [ { "id": "rs3549305328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549305328" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ala451", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656937", "evidence": [ { "id": "rs48468295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48468295" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "459", "end_pos": "459", "site_lbl": "His459", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656913", "evidence": [ { "id": "rs3549029674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549029674" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Leu460", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656910", "evidence": [ { "id": "rs3549004231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004231" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asp462", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656904", "evidence": [ { "id": "rs3549147038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549147038" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Val464", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656748", "evidence": [ { "id": "rs3389231330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231330" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Gln475", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656715", "evidence": [ { "id": "rs47156596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47156596" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Arg476", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656712", "evidence": [ { "id": "rs581231037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581231037" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Lys487", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656679", "evidence": [ { "id": "rs3549146492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549146492" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Arg488", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656675", "evidence": [ { "id": "rs263199346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263199346" } ] }, { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656675", "evidence": [ { "id": "rs263199346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263199346" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Leu489", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656671", "evidence": [ { "id": "rs3549146978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549146978" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ile490", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656670", "evidence": [ { "id": "rs3549029618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549029618" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Arg501", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656636", "evidence": [ { "id": "rs579912769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579912769" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Met502", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656633", "evidence": [ { "id": "rs3549004179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004179" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Arg518", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656585", "evidence": [ { "id": "rs220018325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220018325" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ala524", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656568", "evidence": [ { "id": "rs231177864", "database": "dbSNP", "url": 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"sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660151", "evidence": [ { "id": "rs3549005777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549005777" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Gln55", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660148", "evidence": [ { "id": "rs3549146975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549146975" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Val61", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q14AT2", "url": "https://www.uniprot.org/uniprotkb/Q14AT2" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q14AT2", "url": "https://www.uniprot.org/uniprotkb/Q14AT2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q5DP50-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5DP50", "url": "https://www.uniprot.org/uniprotkb/Q5DP50" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 351, "chemical_mass": 38993.0, "gene_names": "Tex24;1700108N07Rik;TESF-1;Tex24", "protein_name": "Protein Tex24", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", 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], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "iron-sulfur cluster assembly", "id": "GO:0016226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016226", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "adenosine catabolic process", "id": "GO:0006154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006154", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "deoxyadenosine catabolic process", "id": "GO:0006157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006157", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "AMP catabolic process", "id": "GO:0006196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006196", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "response to aluminum ion", "id": "GO:0010044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010044", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "xanthine catabolic process", "id": "GO:0009115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009115", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "regulation of epithelial cell differentiation", "id": "GO:0030856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030856", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "guanine catabolic process", "id": "GO:0006147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006147", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "allantoin metabolic process", "id": "GO:0000255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000255", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "inosine catabolic process", "id": "GO:0006148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006148", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "deoxyinosine catabolic process", "id": "GO:0006149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006149", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "deoxyguanosine catabolic process", "id": "GO:0006161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006161", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "GMP catabolic process", "id": "GO:0046038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046038", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "dAMP catabolic process", "id": "GO:0046059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046059", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "hypoxanthine catabolic process", "id": "GO:0009114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009114", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "IMP catabolic process", "id": "GO:0006204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006204", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "dGMP catabolic process", "id": "GO:0046055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046055", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" } ], "molecular_function": [ { "name": "molybdenum ion binding", "id": "GO:0030151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030151", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "molybdopterin cofactor binding", "id": "GO:0043546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043546", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "xanthine dehydrogenase activity", "id": "GO:0004854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004854", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "xanthine oxidase activity", "id": "GO:0004855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004855", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "nitrite reductase (NO-forming) activity", "id": "GO:0050421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050421", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "hypoxanthine dehydrogenase activity", "id": "GO:0070674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070674", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "hypoxanthine oxidase activity", "id": "GO:0070675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070675", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q00519", "url": "https://www.uniprot.org/uniprotkb/Q00519" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q8K0D7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K0D7", "url": "https://www.uniprot.org/uniprotkb/Q8K0D7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 174, "chemical_mass": 19867.0, "gene_names": 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"GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q8K0D7", "url": "https://www.uniprot.org/uniprotkb/Q8K0D7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q3U1J1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U1J1", "url": "https://www.uniprot.org/uniprotkb/Q3U1J1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 259, "chemical_mass": 28954.0, "gene_names": "Tfpt;2400004F01Rik;Amida;FB1;Tfpt", "protein_name": "TCF3 fusion partner homolog", "disease": [], "biological_process": [ { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J1", "url": "https://www.uniprot.org/uniprotkb/Q3U1J1" } 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"batch.mouse.16" }, { "uniprot_canonical_ac": "Q8CIZ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2813, "chemical_mass": 309269.0, "gene_names": "Vwf;6820430P06Rik;B130011O06Rik;C630030D09;F8VWF;VWD;Vwf", "protein_name": "von Willebrand factor", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111054" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12531", "name": "von Willebrand's disease", "description": "A hemophilia that is a hereditary abnormality which slows the blood clotting process. 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characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:2217", "name": "Bernard-Soulier syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.", "url": "https://disease-ontology.org/term/DOID:2217", "evidence": [ { "id": "2217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2217" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "hemostasis", "id": "GO:0007599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007599", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "activation of blood coagulation via clotting cascade", "id": "GO:0002543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002543", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": "positive regulation of platelet aggregation", "id": "GO:1901731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901731", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q8CIZ8", "url": "https://www.uniprot.org/uniprotkb/Q8CIZ8" } ], "pmid": "" }, { "name": 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prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease 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"https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9810", "name": "polyarteritis nodosa", "description": "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.", "url": "https://disease-ontology.org/term/DOID:9810", "evidence": [ { "id": "9810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9810" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of microglial cell migration", "id": "GO:1904141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904141", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 production", "id": "GO:0032914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032914", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of calcium-independent cell-cell adhesion", "id": "GO:0051041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051041", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis", "id": "GO:0048247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048247", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "integrin activation", "id": "GO:0033622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033622", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "angiogenesis involved in wound healing", "id": "GO:0060055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060055", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031664", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "autocrine signaling", "id": "GO:0035425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035425", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 alpha production", "id": "GO:0032690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032690", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of glutamate receptor signaling pathway", "id": "GO:1900450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900450", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of hippocampal neuron apoptotic process", "id": "GO:0110091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110091", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" } ], "molecular_function": [ { "name": "CX3C chemokine receptor binding", "id": "GO:0031737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031737", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", 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"protein_name": "Tubulin epsilon chain", "disease": [], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9D6T1", "url": "https://www.uniprot.org/uniprotkb/Q9D6T1" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9D6T1", "url": "https://www.uniprot.org/uniprotkb/Q9D6T1" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9D6T1", "url": "https://www.uniprot.org/uniprotkb/Q9D6T1" } ], "pmid": "" }, { "name": "microtubule-based process", "id": "GO:0007017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007017", "evidence": [ { "database": "UniProtKB", "id": "Q9D6T1", "url": 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"" }, { "name": "positive regulation of hydrolase activity", "id": "GO:0051345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051345", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "telomeric D-loop disassembly", "id": "GO:0061820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061820", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "DNA synthesis involved in DNA repair", "id": "GO:0000731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000731", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "O09053", "url": "https://www.uniprot.org/uniprotkb/O09053" } ], "pmid": "" }, { "name": "regulation 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"" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" } ], "molecular_function": [ { 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}, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Thr708", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117249954", "evidence": [ { "id": "rs3388920169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920169" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Met713", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117249970", "evidence": [ { "id": "rs3546120264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546120264" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Val718", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117249983", "evidence": [ { "id": "rs3388944593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944593" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Phe719", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117249986", "evidence": [ { "id": "rs3388943299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943299" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Pro724", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117250001", "evidence": [ { "id": "rs3388913592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388913592" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "758", "end_pos": "758", "site_lbl": "Asp758", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255701", "evidence": [ { "id": "rs3507877717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507877717" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Lys765", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255723", "evidence": [ { "id": "rs3388924205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924205" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Ile793", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255806", "evidence": [ { "id": "rs3388929794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929794" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Pro812", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255863", "evidence": [ { "id": "rs3388943007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943007" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "824", "end_pos": "824", "site_lbl": "Val824", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255899", "evidence": [ { "id": "rs3388943313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943313" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Val826", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255905", "evidence": [ { "id": "rs3388929816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929816" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Glu828", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117255911", "evidence": [ { "id": "rs3388934890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388934890" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Pro856", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266550", "evidence": [ { "id": "rs3388929870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929870" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Arg858", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266556", "evidence": [ { "id": "rs3388939645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388939645" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "870", "end_pos": "870", "site_lbl": "Asn870", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266593", "evidence": [ { "id": "rs3388943010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943010" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Gly893", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266660", "evidence": [ { "id": "rs3388940901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388940901" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "897", "end_pos": "897", "site_lbl": "Glu897", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266674", "evidence": [ { "id": "rs3388924227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924227" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Met911", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266716", "evidence": [ { "id": "rs3388934892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388934892" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Ala920", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266741", "evidence": [ { "id": "rs3546150527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546150527" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "924", "end_pos": "924", "site_lbl": "Met924", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266754", "evidence": [ { "id": "rs3388940915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388940915" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Pro948", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "117266826", "evidence": [ { "id": "rs3388920185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920185" } ] } ] }, { "uniprot_canonical_ac": "Q811B1-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Trp932", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "In pug; strongly reduced enzyme activity leads to defects in proteoglycan synthesis, abnormal chondrocyte maturation, premature ossification and dwarfism with short limbs and a compressed ribcage, which may be the cause for the increased mortality before weaning.", "evidence": [ { "database": "UniProtKB", "id": "Q811B1", "url": "https://www.uniprot.org/uniprotkb/Q811B1" }, { "database": "PubMed", "id": "24161523", "url": "https://glygen.org/publication/PubMed/24161523" } ] } ] } ], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q8VC51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 532, "chemical_mass": 58151.0, "gene_names": "Wrap53;Tcab1;Wdr79;Wrap53", "protein_name": "Telomerase Cajal body protein 1", "disease": [ { "disease_id": "DOID:0070019", "name": "autosomal recessive dyskeratosis congenita 3", "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.", "url": 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"" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P62810", "url": "https://www.uniprot.org/uniprotkb/P62810" } ], "pmid": "" } ], "biological_process": [ { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P62810", "url": "https://www.uniprot.org/uniprotkb/P62810" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P62810", "url": "https://www.uniprot.org/uniprotkb/P62810" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "P13372-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P13372", "url": 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"name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P13372", "url": "https://www.uniprot.org/uniprotkb/P13372" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "P21552-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21552", "url": "https://www.uniprot.org/uniprotkb/P21552" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 360, "chemical_mass": 40482.0, "gene_names": "Wnt2;2610510E18Rik;Int1l1;Irp;Mirp;Wnt-2;Wnt2a;Wnt2", "protein_name": "Protein Wnt-2", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "establishment of blood-brain barrier", "id": "GO:0060856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060856", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cell proliferation in forebrain", "id": "GO:0021846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021846", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "uterus morphogenesis", "id": "GO:0061038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061038", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration", "id": "GO:0014834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014834", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in wound healing", "id": "GO:0060054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060054", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "cerebellar granule cell differentiation", "id": "GO:0021707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021707", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "regulation of axon diameter", "id": "GO:0031133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031133", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "central nervous system vasculogenesis", "id": "GO:0022009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022009", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "oviduct development", "id": "GO:0060066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060066", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "stem cell development", "id": "GO:0048864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048864", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "asymmetric protein localization involved in cell fate determination", "id": "GO:0045167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045167", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell activation", "id": "GO:0014719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014719", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P24383", "url": "https://www.uniprot.org/uniprotkb/P24383" } ], "pmid": 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"cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome", "id": "GO:0098837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098837", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "Golgi 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255711", "evidence": [ { "id": "rs3388494567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494567" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1118", "end_pos": "1118", "site_lbl": "Glu1118", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228141_128228142insACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388494989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494989" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1120", "end_pos": "1120", "site_lbl": "Lys1120", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228134", "evidence": [ { "id": "rs3388496383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496383" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Gly1121", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228130", "evidence": [ { "id": "rs3388495984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495984" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1131", "end_pos": "1131", "site_lbl": "Trp1131", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228101", "evidence": [ { "id": "rs3388496911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496911" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Asp1142", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228068", "evidence": [ { "id": "rs3388496284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496284" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ala1146", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228055", "evidence": [ { "id": "rs3388495151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495151" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Leu1184", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227942", "evidence": [ { "id": "rs217366103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217366103" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Thr1203", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227884", "evidence": [ { "id": "rs3388496029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496029" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Gln120", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255681", "evidence": [ { "id": "rs3388493979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493979" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Asp1232", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227799_128227800insCTCCTAGACTGAACCCACCCAGCTATGATAATGACATGGAGTTAAAGGCCAGTGACATGAACTCTTCAGCCTTGATCTCCATG", "evidence": [ { "id": "rs3390612360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390612360" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Met1240", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227772", "evidence": [ { "id": "rs3388496106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496106" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Asn1241", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227771", "evidence": [ { "id": "rs3388494240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494240" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1248", "end_pos": "1248", "site_lbl": "Met1248", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227748", "evidence": [ { "id": "rs3388495988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495988" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1250", "end_pos": "1250", "site_lbl": "His1250", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227744", "evidence": [ { "id": "rs225650851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225650851" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1252", "end_pos": "1252", "site_lbl": "Asp1252", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227737", "evidence": [ { "id": "rs265643793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265643793" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1269", "end_pos": "1269", "site_lbl": "Gly1269", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227687", "evidence": [ { "id": "rs3388496107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496107" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1284", "end_pos": "1284", "site_lbl": "Asn1284", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227641", "evidence": [ { "id": "rs252054036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252054036" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1291", "end_pos": "1291", "site_lbl": "Glu1291", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227620", "evidence": [ { "id": "rs3388496669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496669" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1296", "end_pos": "1296", "site_lbl": "His1296", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227604", "evidence": [ { "id": "rs3388493945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493945" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1305", "end_pos": "1305", "site_lbl": "Lys1305", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227578", "evidence": [ { "id": "rs3388496853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496853" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Tyr1307", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226468", "evidence": [ { "id": "rs5525077118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525077118" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ala1321", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226427", "evidence": [ { "id": "rs226885605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226885605" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1327", "end_pos": "1327", "site_lbl": "Glu1327", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226409", "evidence": [ { "id": "rs3388495131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495131" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1331", "end_pos": "1331", "site_lbl": "Gly1331", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226396", "evidence": [ { "id": "rs3388495118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495118" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1349", "end_pos": "1349", "site_lbl": "Pro1349", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226343", "evidence": [ { "id": "rs3388496695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496695" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Tyr1378", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226257_128226258insCTCAACCATCACT", "evidence": [ { "id": "rs3388498357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498357" }, { "id": "rs3388493425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493425" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255623", "evidence": [ { "id": "rs47691210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47691210" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1455", "end_pos": "1455", "site_lbl": "Ile1455", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222923", "evidence": [ { "id": "rs249311322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249311322" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1458", "end_pos": "1458", "site_lbl": "Pro1458", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222914", "evidence": [ { "id": "rs230205132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230205132" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1461", "end_pos": "1461", "site_lbl": "Leu1461", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222905", "evidence": [ { "id": "rs3388496379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496379" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1506", "end_pos": "1506", "site_lbl": "Asp1506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222023_128222024insACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388498185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498185" } ] }, { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222020", "evidence": [ { "id": "rs3388493357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493357" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1508", "end_pos": "1508", "site_lbl": "Gly1508", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222015_128222016insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388494216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494216" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1513", "end_pos": "1513", "site_lbl": "Glu1513", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222000", "evidence": [ { "id": "rs3390625529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390625529" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Phe153", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255583", "evidence": [ { "id": "rs3388493348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493348" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1596", "end_pos": "1596", "site_lbl": "Gly1596", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128221455", "evidence": [ { "id": "rs3388496271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496271" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255553", "evidence": [ { "id": "rs1132650210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132650210" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1701", "end_pos": "1701", "site_lbl": "Val1701", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128216710", "evidence": [ { "id": "rs265781372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265781372" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ile170", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255532", "evidence": [ { "id": "rs3388496329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496329" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1718", "end_pos": "1718", "site_lbl": "Trp1718", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215422", "evidence": [ { "id": "rs3388495100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495100" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1726", "end_pos": "1726", "site_lbl": "Leu1726", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215398", "evidence": [ { "id": "rs3388496360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496360" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1764", "end_pos": "1764", "site_lbl": "Leu1764", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215285", "evidence": [ { "id": "rs3388496311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496311" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1777", "end_pos": "1777", "site_lbl": "Ile1777", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215245", "evidence": [ { "id": "rs3388496091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496091" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1778", "end_pos": "1778", "site_lbl": "Asn1778", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215242", "evidence": [ { "id": "rs3388496839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496839" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Leu177", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255511", "evidence": [ { "id": "rs3388495510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495510" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Arg1785", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214417", "evidence": [ { "id": "rs243799657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243799657" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Glu178", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255509", "evidence": [ { "id": "rs3388495535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495535" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1792", "end_pos": "1792", "site_lbl": "Gly1792", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214396", "evidence": [ { "id": "rs3388495502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495502" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Lys179", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255505", "evidence": [ { "id": "rs31469127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31469127" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1819", "end_pos": "1819", "site_lbl": "Arg1819", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214315", "evidence": [ { "id": "rs3388495110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495110" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1825", "end_pos": "1825", "site_lbl": "Pro1825", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214297", "evidence": [ { "id": "rs3388496673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496673" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1834", "end_pos": "1834", "site_lbl": "Val1834", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214270", "evidence": [ { "id": "rs3388496862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496862" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Gly183", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255493", "evidence": [ { "id": "rs259315752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259315752" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1852", "end_pos": "1852", "site_lbl": "His1852", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214217", "evidence": [ { "id": "rs3388496414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496414" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1856", "end_pos": "1856", "site_lbl": "Gln1856", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214203", "evidence": [ { "id": "rs3390623845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390623845" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1918", "end_pos": "1918", "site_lbl": "Thr1918", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128212900", "evidence": [ { "id": "rs253337967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253337967" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1931", "end_pos": "1931", "site_lbl": "Phe1931", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128212861", "evidence": [ { "id": "rs3388492982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388492982" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Asp199", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255446", "evidence": [ { "id": "rs239861925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239861925" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Lys203", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255434", "evidence": [ { "id": "rs3388496134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496134" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Val207", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255422", "evidence": [ { "id": "rs3539704544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539704544" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Val222", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246858", "evidence": [ { "id": "rs3388496704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496704" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Leu231", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246831", "evidence": [ { "id": "rs3388493394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493394" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246812", "evidence": [ { "id": "rs240437280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240437280" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Lys242", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246797", "evidence": [ { "id": "rs254163404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254163404" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Val278", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239353", "evidence": [ { "id": "rs47201560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47201560" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Val280", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239347", "evidence": [ { "id": "rs240132971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240132971" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239316", "evidence": [ { "id": "rs220703988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220703988" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Val314", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128238306", "evidence": [ { "id": "rs3388496298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496298" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Gln347", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235966", "evidence": [ { "id": "rs3539699004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539699004" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235946", "evidence": [ { "id": "rs220296088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220296088" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235902", "evidence": [ { "id": "rs252169603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252169603" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235898", "evidence": [ { "id": "rs233118514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233118514" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Thr38", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255928", "evidence": [ { "id": "rs3388495063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495063" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Val399", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235810", "evidence": [ { "id": "rs3388496721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496721" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Phe465", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235613", "evidence": [ { "id": "rs245832794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245832794" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235612", "evidence": [ { "id": "rs225725797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225725797" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Thr469", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235601", "evidence": [ { "id": "rs215914328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215914328" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Asn472", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235591", "evidence": [ { "id": "rs246311969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246311969" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Trp500", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235507", "evidence": [ { "id": "rs3388496650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496650" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Leu506", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235489", "evidence": [ { "id": "rs3388496832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496832" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Thr555", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235342", "evidence": [ { "id": "rs3388495103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495103" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ala568", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235303", "evidence": [ { "id": "rs249663853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249663853" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Tyr587", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation 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No effect on the interaction with GYG1. Does not affect the result of other mutations; when associated with A-135; R-135; R-141; A-239; A-243; or R-243.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asp133", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142406956", "evidence": [ { "id": "rs3388872304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388872304" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405286", "evidence": [ { "id": "rs5527898928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527898928" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Phe179", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405250", "evidence": [ { "id": "rs3388850651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850651" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Thr204", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405175", "evidence": [ { "id": "rs3388868988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868988" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Leu213", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405149", "evidence": [ { "id": "rs3388846599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388846599" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Pro24", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418457", "evidence": [ { "id": "rs3388868966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868966" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ala266", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402041", "evidence": [ { "id": "rs3388830864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830864" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Met269", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402031", "evidence": [ { "id": "rs3388850642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850642" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Lys271", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402027", "evidence": [ { "id": "rs32172839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32172839" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Pro279", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142400963", "evidence": [ { "id": "rs3388862578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862578" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asp27", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369267", "evidence": [ { "id": "rs32170912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32170912" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Leu2", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418523", "evidence": [ { "id": "rs3388853302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853302" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Leu30", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418439", "evidence": [ { "id": "rs3388862522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862522" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Tyr405", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142396210", "evidence": [ { "id": "rs3388830883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830883" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ile413", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395226", "evidence": [ { "id": "rs3388862585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862585" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ala431", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395173", "evidence": [ { "id": "rs3388850613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850613" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ile432", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395169", "evidence": [ { "id": "rs3388869034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388869034" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Gly43", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409126", "evidence": [ { "id": "rs3388868515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868515" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Pro442", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394212", "evidence": [ { "id": "rs3388875632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388875632" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ser452", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394183", "evidence": [ { "id": "rs3388869020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388869020" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Leu465", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394143", "evidence": [ { "id": "rs3388866730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866730" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Pro479", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391826", "evidence": [ { "id": "rs3388830940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830940" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Pro487", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391802", "evidence": [ { "id": "rs3388862892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862892" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Met491", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391790", "evidence": [ { "id": "rs3388844400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388844400" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Val538", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376049", "evidence": [ { "id": "rs32174624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32174624" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Gln539", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376047_142376048insTCTCCACACTACCTCAACCATCA", "evidence": [ { "id": "rs3388867079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867079" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Glu540", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376042", "evidence": [ { "id": "rs3388867038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867038" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409093", "evidence": [ { "id": "rs3507845134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507845134" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ala56", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409087", "evidence": [ { "id": "rs3388872265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388872265" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Thr630", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142373081", "evidence": [ { "id": "rs239381443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239381443" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Thr631", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369358", "evidence": [ { "id": "rs3388867072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867072" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Lys635", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369345", "evidence": [ { "id": "rs3388844476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388844476" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Pro639", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369335", "evidence": [ { "id": "rs3388868570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868570" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Pro643", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369323", "evidence": [ { "id": "rs3388875649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388875649" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Cys656", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369284", "evidence": [ { "id": "rs32172034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32172034" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ala659", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369274", "evidence": [ { "id": "rs225244459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225244459" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Asp661", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369267", "evidence": [ { "id": "rs32170912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32170912" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Ile682", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369205", "evidence": [ { "id": "rs3388862569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862569" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Pro685", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369197", "evidence": [ { "id": "rs3388853309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853309" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Lys695", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369167", "evidence": [ { "id": "rs3388865618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865618" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Tyr702", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369146", "evidence": [ { "id": "rs3397270820", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Trp135", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "No effect on the interaction with GYG1. No effect on the interaction with GYG1; when associated with A-8.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Loss of interaction with GYG1. Loss of interaction with GYG1; when associated with A-8.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Gly141", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Loss of interaction with GYG1. Loss of function. Loss of interaction with GYG1; when associated with A-8.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Tyr239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with GYG1. Loss of function. Loss of interaction with GYG1; when associated with A-8.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Cys243", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on the interaction with GYG1. Loss of interaction with GYG1; when associated with A-8.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] }, { "sequence_org": "C", "sequence_mut": "R", "comment": "Loss of interaction with GYG1. Loss of function. 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} ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4VBD9", "url": 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"database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ser611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VBD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VBD9" } ] } ] }, { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asp179", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "2", "chr_pos": "148526065", "evidence": [ { "id": "rs3388586027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388586027" } ] } ] }, { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Leu648", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "2", "chr_pos": "148532790", "evidence": [ { "id": "rs3388596541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596541" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "A0A0J9YU00-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU00", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU00" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 55051.0, "gene_names": "Pramel33;Pramel33", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU00", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU00" } ], "pmid": "" }, { "name": "Cul2-RING ubiquitin ligase complex", "id": 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"batch.mouse.17" }, { "uniprot_canonical_ac": "G3X972-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X972", "url": "https://www.uniprot.org/uniprotkb/G3X972" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1096, "chemical_mass": 118581.0, "gene_names": "Sec24c;2610204K03Rik;Sec24c;mKIAA0079", "protein_name": "", "disease": [], "biological_process": [ { "name": "COPII-coated vesicle cargo loading", "id": "GO:0090110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090110", "evidence": [ { "database": "UniProtKB", "id": "G3X972", "url": "https://www.uniprot.org/uniprotkb/G3X972" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "G3X972", "url": "https://www.uniprot.org/uniprotkb/G3X972" } ], "pmid": "" }, { "name": "intracellular 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], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { 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"DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "biological_process": [ { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "circadian temperature homeostasis", "id": "GO:0060086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060086", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of gene expression via chromosomal CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to heparin", "id": "GO:0071504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071504", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of hormone biosynthetic process", "id": "GO:0046886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046886", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of progesterone biosynthetic process", "id": "GO:2000182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000182", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of protein sumoylation", "id": "GO:0033233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033233", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to mycophenolic acid", "id": "GO:0071506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071506", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "glomerular mesangial cell proliferation", "id": "GO:0072110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072110", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of glomerular metanephric mesangial cell proliferation", "id": "GO:0072303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072303", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to interleukin-8", "id": "GO:0098759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098759", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of post-translational protein modification", "id": "GO:1901875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901875", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "zinc ion binding", "id": 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These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.", "url": "https://disease-ontology.org/term/DOID:480", "evidence": [ { "id": "480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:480" } ], "weight": 0.0 }, { "disease_id": "DOID:4906", "name": "small intestine adenocarcinoma", "description": "A small intestine carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4906", "evidence": [ { "id": "4906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4906" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], 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"https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with 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"https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight 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"Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], 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inflammasome complex", "id": "GO:0072559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072559", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Tyr38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ile105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Reduced ability to induce pyroptosis. No effect on protein expression. No effect on cleavage by CASP4.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "26375259", "url": "https://glygen.org/publication/PubMed/26375259" }, { "database": "PubMed", "id": "29576317", "url": "https://glygen.org/publication/PubMed/29576317" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Cys122", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Arg138", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Complete loss of homooligomerization, lipid-binding, relocalization of Gasdermin-D, N-terminal to the plasma membrane and pyroptosis, as well as loss of bactericidal activity; when associated with A-146; A-152 and A-154. 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Partial loss of homooligomerization and pyroptosis; when associated with A-146.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Lys146", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Complete loss of homooligomerization, lipid-binding, relocalization of Gasdermin-D, N-terminal to the plasma membrane and pyroptosis, as well as loss of bactericidal activity; when associated with A-138 or with S-138; A-152 and A-154. 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Partial loss of homooligomerization and pyroptosis; when associated with A-146 or with A-154, or with A-146 and A-154.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Arg154", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Complete loss of homooligomerization, lipid-binding, relocalization of Gasdermin-D, N-terminal to the plasma membrane and pyroptosis, as well as loss of bactericidal activity; when associated with A-138 or with S-138; A-146 and A-152. 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Does not impair interaction with CASP1. Loss of CASP4/CASP11-induced cleavage. 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Loss of CASP4/CASP11-induced cleavage. Abolished ability to induce pyroptosis following inactivation of MAP3K7/TAK1 by Yersinia toxin YopJ.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "26375259", "url": "https://glygen.org/publication/PubMed/26375259" }, { "database": "PubMed", "id": "26611636", "url": "https://glygen.org/publication/PubMed/26611636" }, { "database": "PubMed", "id": "30361383", "url": "https://glygen.org/publication/PubMed/30361383" }, { "database": "PubMed", "id": "32553275", "url": "https://glygen.org/publication/PubMed/32553275" }, { "database": "PubMed", "id": "30135078", "url": "https://glygen.org/publication/PubMed/30135078" }, { "database": "PubMed", "id": "38538834", "url": "https://glygen.org/publication/PubMed/38538834" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Leu292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", 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pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "29576317", "url": "https://glygen.org/publication/PubMed/29576317" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ala380", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Cys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of oligomerization of Gasdermin-D, N-terminal.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ala474", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Cys57", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Leu60", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "G", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": 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"pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "trachea formation", "id": "GO:0060440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060440", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of hemoglobin biosynthetic process", "id": "GO:0046985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046985", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034115", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of response to cytokine stimulus", "id": "GO:0060761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060761", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to laminar fluid shear stress", "id": "GO:0071499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071499", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of interleukin-8 production", "id": "GO:0032717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032717", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye development", "id": "GO:0031077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031077", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "defense response to tumor cell", "id": "GO:0002357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002357", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "post-embryonic hemopoiesis", "id": "GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of blastocyst development", "id": "GO:0120222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120222", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity", "id": "GO:0001010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001010", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulator activity", "id": "GO:0035014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035014", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", 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"https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4465", "name": "papillary renal cell carcinoma", "description": "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.", "url": "https://disease-ontology.org/term/DOID:4465", "evidence": [ { "id": "4465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4465" } ], "weight": 0.0 }, { "disease_id": "DOID:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": 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peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": 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changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": 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"12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:13328", "name": "diabetic cataract", "description": "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:13328", "evidence": [ { "id": "13328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13328" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of 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"name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": 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"https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": 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"name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "O09106", "url": "https://www.uniprot.org/uniprotkb/O09106" } ], "pmid": "" }, { "name": "fungiform papilla formation", "id": "GO:0061198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061198", "evidence": [ { "database": "UniProtKB", "id": "O09106", "url": "https://www.uniprot.org/uniprotkb/O09106" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "O09106", "url": "https://www.uniprot.org/uniprotkb/O09106" } ], "pmid": "" }, { "name": "regulation of cell fate specification", "id": "GO:0042659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042659", "evidence": [ { "database": "UniProtKB", "id": "O09106", "url": 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}, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1088", "end_pos": "1088", "site_lbl": "Lys1088", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001174", "evidence": [ { "id": "rs3388812189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812189" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1093", "end_pos": "1093", "site_lbl": "Leu1093", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001190", "evidence": [ { "id": "rs3388815963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815963" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "109", "end_pos": "109", 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"sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001238", "evidence": [ { "id": "rs3388817332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817332" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Gln1121", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001272", "evidence": [ { "id": "rs3388817127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817127" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Val1126", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001288", "evidence": [ { "id": "rs3388817304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817304" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Ala1139", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001327", "evidence": [ { "id": "rs3388824874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824874" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1171", "end_pos": "1171", "site_lbl": "Pro1171", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001422", "evidence": [ { "id": "rs219256348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219256348" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1181", "end_pos": "1181", "site_lbl": "Ala1181", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001452", "evidence": [ { "id": "rs33748042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748042" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Phe1184", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001463", "evidence": [ { "id": "rs3388810293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810293" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1201", "end_pos": "1201", "site_lbl": "Thr1201", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001512", "evidence": [ { "id": "rs3388797335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797335" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1206", "end_pos": "1206", "site_lbl": "Ala1206", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001527", "evidence": [ { "id": "rs3388810323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810323" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Ile1215", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001554", "evidence": [ { "id": "rs33748864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748864" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1219", "end_pos": "1219", "site_lbl": "Thr1219", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001566", "evidence": [ { "id": "rs3388805462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388805462" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Met1243", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001638", "evidence": [ { "id": "rs3388812207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812207" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001639", "evidence": [ { "id": "rs33748866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748866" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Phe1246", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001647", "evidence": [ { "id": "rs3388797254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797254" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001648", "evidence": [ { "id": "rs3388824939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824939" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Ser1257", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001681", "evidence": [ { "id": "rs3396296866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396296866" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1289", "end_pos": "1289", "site_lbl": "Gln1289", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001778", "evidence": [ { "id": "rs265527632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265527632" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Phe128", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22961672", "evidence": [ { "id": "rs3388823422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823422" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Val1290", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001779", "evidence": [ { "id": "rs3396610743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396610743" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1303", "end_pos": "1303", "site_lbl": "Ser1303", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001819", "evidence": [ { "id": "rs232312354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232312354" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Pro1313", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001848", "evidence": [ { "id": "rs3388797296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797296" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Lys1315", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001855", "evidence": [ { "id": "rs3396598264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598264" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Val1321", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001873", "evidence": [ { "id": "rs33748868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748868" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1343", "end_pos": "1343", "site_lbl": "Asp1343", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001940", "evidence": [ { "id": "rs242842512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242842512" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001939", "evidence": [ { "id": "rs3388816306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816306" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1346", "end_pos": "1346", "site_lbl": "Ser1346", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001948", "evidence": [ { "id": "rs231947983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231947983" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001947", "evidence": [ { "id": "rs213419929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213419929" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1363", "end_pos": "1363", "site_lbl": "Leu1363", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001998", "evidence": [ { "id": "rs239058890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239058890" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Ser1370", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002019", "evidence": [ { "id": "rs3388815953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815953" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002020", "evidence": [ { "id": "rs3388816260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816260" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1381", "end_pos": "1381", "site_lbl": "Pro1381", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002052", "evidence": [ { "id": "rs264001827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264001827" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Leu1384", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002061", "evidence": [ { "id": "rs33748870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748870" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1386", "end_pos": "1386", "site_lbl": "Met1386", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002069", "evidence": [ { "id": "rs237564997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237564997" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1411", "end_pos": "1411", "site_lbl": "Thr1411", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002143", "evidence": [ { "id": "rs257060065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257060065" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Asp1437", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002221", "evidence": [ { "id": "rs219687761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219687761" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Gly1441", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002233", "evidence": [ { "id": "rs33748872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748872" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1455", "end_pos": "1455", "site_lbl": "Arg1455", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002275", "evidence": [ { "id": "rs3388824925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824925" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Asp1477", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002341", "evidence": [ { "id": "rs233249641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233249641" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1483", "end_pos": "1483", "site_lbl": "Leu1483", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002359", "evidence": [ { "id": "rs3388810241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810241" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1497", "end_pos": "1497", "site_lbl": "Thr1497", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002400", "evidence": [ { "id": "rs223506230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223506230" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Glu152", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22961744", "evidence": [ { "id": "rs3388810262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810262" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1536", "end_pos": "1536", "site_lbl": "Ala1536", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002518", "evidence": [ { "id": "rs213541485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213541485" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Glu1629", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23007324", "evidence": [ { "id": "rs3388815948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815948" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1676", "end_pos": "1676", "site_lbl": "Pro1676", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23016185", "evidence": [ { "id": "rs242392059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242392059" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1678", "end_pos": "1678", "site_lbl": "Val1678", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23016191", "evidence": [ { "id": "rs3388797263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797263" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Gly1694", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23022206", "evidence": [ { "id": "rs3413025477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413025477" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1735", "end_pos": "1735", "site_lbl": "Leu1735", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024969", "evidence": [ { "id": "rs3396598272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598272" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1736", "end_pos": "1736", "site_lbl": "Gly1736", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024971", "evidence": [ { "id": "rs3396296853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396296853" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1741", "end_pos": "1741", "site_lbl": "Ser1741", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024987", "evidence": [ { "id": "rs3388810238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810238" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1763", "end_pos": "1763", "site_lbl": "Arg1763", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23027844", "evidence": [ { "id": "rs3388811609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811609" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1882", "end_pos": "1882", "site_lbl": "Arg1882", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23033359", "evidence": [ { "id": "rs3388822022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388822022" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1889", "end_pos": "1889", "site_lbl": "Thr1889", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23033379", "evidence": [ { "id": "rs3388817301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817301" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2069", "end_pos": "2069", "site_lbl": "Gly2069", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23042782", "evidence": [ { "id": "rs3388806351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806351" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2083", "end_pos": "2083", "site_lbl": "Tyr2083", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23044249", "evidence": [ { "id": "rs3388821992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821992" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2107", "end_pos": "2107", "site_lbl": "Ile2107", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23044321", "evidence": [ { "id": "rs220322813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220322813" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2137", "end_pos": "2137", "site_lbl": "Glu2137", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23045642", "evidence": [ { "id": "rs219184457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219184457" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2148", "end_pos": "2148", "site_lbl": "Leu2148", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23045673", "evidence": [ { "id": "rs5527473307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527473307" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2222", "end_pos": "2222", "site_lbl": "His2222", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050397", "evidence": [ { "id": "rs3388810291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810291" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2253", "end_pos": "2253", "site_lbl": "Lys2253", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050491", "evidence": [ { "id": "rs3388817339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817339" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2258", "end_pos": "2258", "site_lbl": "Met2258", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050506", "evidence": [ { "id": "rs3388812246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812246" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2262", "end_pos": "2262", "site_lbl": "Val2262", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050517", "evidence": [ { "id": "rs3388812256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812256" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asp226", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972769", "evidence": [ { "id": "rs3388817182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817182" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2294", "end_pos": "2294", "site_lbl": "Ser2294", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23052053", "evidence": [ { "id": "rs3388824858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824858" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972800", "evidence": [ { "id": "rs3388785427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785427" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Cys240", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972810", "evidence": [ { "id": "rs3388821976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821976" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asp242", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972815", "evidence": [ { "id": "rs3388817353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817353" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Thr252", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972846", "evidence": [ { "id": "rs3388785438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785438" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ala261", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22973014", "evidence": [ { "id": "rs3388823431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823431" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Leu32", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22925865", "evidence": [ { "id": "rs3388801210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801210" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Arg334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22986202", "evidence": [ { "id": "rs3388817189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817189" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Val348", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22986243", "evidence": [ { "id": "rs3388801333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801333" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Asn377", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22987346", "evidence": [ { "id": "rs3388811629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811629" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Leu378", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22987348", "evidence": [ { "id": "rs3388815975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815975" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Asp440", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999229", "evidence": [ { "id": "rs33746572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33746572" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Arg447", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999251", "evidence": [ { "id": "rs3388801354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801354" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Val450", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999260", "evidence": [ { "id": "rs237952711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237952711" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Met470", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999321", "evidence": [ { "id": "rs3388816300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816300" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Gly471", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999322", "evidence": [ { "id": "rs3388810242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810242" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Arg485", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999365", "evidence": [ { "id": "rs3388806360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806360" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Gln521", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999474", "evidence": [ { "id": "rs3544079729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544079729" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Thr524", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999482", "evidence": [ { "id": "rs3388812253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812253" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Thr534", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999512", "evidence": [ { "id": "rs3388797248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797248" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Asn539", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999528", "evidence": [ { "id": "rs3388811670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811670" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Phe548", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999554", "evidence": [ { "id": "rs3388806337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806337" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ala557", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999580", "evidence": [ { "id": "rs3388816262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816262" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ile55", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22959669", "evidence": [ { "id": "rs264128020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264128020" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Glu567", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999612", "evidence": [ { "id": "rs3396598205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598205" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Tyr568", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999615_22999619", "evidence": [ { "id": "rs3396559865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396559865" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Glu570", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999621", "evidence": [ { "id": "rs3388817387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817387" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Asp574", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999632", "evidence": [ { "id": "rs3388812245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812245" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999709", "evidence": [ { "id": "rs232430831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232430831" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Met621", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999773", "evidence": [ { "id": "rs266002249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs266002249" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Asp688", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999973", "evidence": [ { "id": "rs3388811641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811641" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Glu699", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000006", "evidence": [ { "id": "rs33747298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747298" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Phe724", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000082", "evidence": [ { "id": "rs3388817327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817327" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Thr737", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000121", "evidence": [ { "id": "rs3388785479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785479" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Leu745", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000145", "evidence": [ { "id": "rs3388803742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803742" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Asp799", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000306", "evidence": [ { "id": "rs3410966542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410966542" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Ala804", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000322", "evidence": [ { "id": "rs3388817383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817383" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Pro806", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000327", "evidence": [ { "id": "rs3388785465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785465" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "839", "end_pos": "839", "site_lbl": "Met839", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000426", "evidence": [ { "id": "rs33747300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747300" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Leu843", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000439", "evidence": [ { "id": "rs33747302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747302" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Arg872", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000525", "evidence": [ { "id": "rs241043402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241043402" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Thr893", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000588", "evidence": [ { "id": "rs33748034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748034" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Arg895", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000595", "evidence": [ { "id": "rs218952068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218952068" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Asp899", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000608", "evidence": [ { "id": "rs3388821946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821946" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22959770", "evidence": [ { "id": "rs3388812257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812257" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Leu8", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22875847", "evidence": [ { "id": "rs240106830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240106830" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Ala908", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000634", "evidence": [ { "id": "rs3388822001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388822001" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "937", "end_pos": "937", "site_lbl": "Pro937", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000721", "evidence": [ { "id": "rs229698573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229698573" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "944", "end_pos": "944", "site_lbl": "Ser944", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000742", "evidence": [ { "id": "rs3388817131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817131" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "977", "end_pos": "977", "site_lbl": "Ile977", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000840", "evidence": [ { "id": "rs212900598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212900598" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Met979", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000846", "evidence": [ { "id": "rs33748036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748036" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Thr988", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000873", "evidence": [ { "id": "rs3388816012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816012" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": 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"name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission", "id": "GO:0099557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099557", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "trans-synaptic signaling, modulating synaptic transmission", "id": "GO:0099550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099550", 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"url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of postsynaptic specialization assembly", "id": "GO:0099150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099150", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission", "id": "GO:0150036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150036", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": 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projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "negative regulation of filopodium assembly", "id": "GO:0051490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051490", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuron cell-cell adhesion", "id": "GO:0007158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007158", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "cerebellar granule cell differentiation", "id": "GO:0021707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021707", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular synaptic transmission", "id": "GO:1900075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900075", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "AMPA selective glutamate receptor signaling pathway", "id": "GO:0098990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098990", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", 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"pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of hyaluronan biosynthetic process", "id": "GO:1900127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900127", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0045743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045743", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in salivary gland morphogenesis", "id": "GO:0060664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060664", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell differentiation", "id": "GO:0060947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060947", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle, embryonic", "id": 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q3UBG2", "url": "https://www.uniprot.org/uniprotkb/Q3UBG2" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "Q3UBG2", "url": "https://www.uniprot.org/uniprotkb/Q3UBG2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling 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"positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "ureter development", "id": "GO:0072189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072189", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "cardiogenic plate morphogenesis", "id": "GO:0003142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003142", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "stem cell fate specification", "id": "GO:0048866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048866", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of cardiac cell fate specification", "id": "GO:2000043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000043", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "inner cell mass cellular morphogenesis", "id": "GO:0001828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001828", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endodermal cell fate 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"https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "minor groove of adenine-thymine-rich DNA binding", "id": "GO:0003680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003680", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "HMG box domain binding", "id": "GO:0071837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071837", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" } ], "biological_process": [ { "name": "NMDA selective glutamate receptor signaling pathway", "id": "GO:0098989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098989", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of megakaryocyte differentiation", "id": "GO:0045652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045652", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of sarcomere organization", "id": "GO:0060297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060297", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": 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"Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to parathyroid hormone stimulus", "id": "GO:0071374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071374", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": 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