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"Haematologica", "date": "2022-10-01", "authors": "Ovsyannikova Galina S, Fedorova Daria V, Tesakov Ivan P, Martyanov Alexey A, Ignatova Anastasia A, Ponomarenko Evgeniya A, Zharkov Pavel A, Pavlova Anna V, Raykina Elena V, Maschan Michael A, Panteleev Mikhail A, Novichkova Galina A, Sveshnikova Anastasia N, Smetanina Nataliya S", "reference": { "type": "PubMed", "id": "35796010", "url": "https://pubmed.ncbi.nlm.nih.gov/35796010" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPS8-1", "protein_name": "Ankyrin repeat domain-containing protein 26", "gene_name": "ANKRD26", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPS8", "url": "https://www.uniprot.org/uniprotkb/Q9UPS8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35796010", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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"date": "2021", "authors": "Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Toure A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C", "reference": { "type": "PubMed", "id": "34255152", "url": "https://pubmed.ncbi.nlm.nih.gov/34255152" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IYR0-1", "protein_name": "Cilia- and flagella-associated protein 206", "gene_name": "CFAP206", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PE87-1", "protein_name": "Cilia- and flagella-associated protein 206", "gene_name": "Cfap206", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYR0", "url": "https://www.uniprot.org/uniprotkb/Q8IYR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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Biophys. Res. Commun.", "date": "2003", "authors": "Fredriksson R, Gloriam DE, Hoglund PJ, Lagerstrom MC, Schioth HB", "reference": { "type": "PubMed", "id": "12565841", "url": "https://pubmed.ncbi.nlm.nih.gov/12565841" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IWK6-1", "protein_name": "Adhesion G protein-coupled receptor A3", "gene_name": "ADGRA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86SQ4-1", "protein_name": "Adhesion G protein-coupled receptor G6", "gene_name": "ADGRG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZF7-1", "protein_name": "Putative adhesion G protein-coupled receptor F2P", "gene_name": "ADGRF2P", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86SQ3-1", "protein_name": "Putative adhesion G protein-coupled receptor E4P", "gene_name": "ADGRE4P", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86SQ6-3", "protein_name": "Adhesion G protein-coupled receptor A1", "gene_name": "ADGRA1", "tax_name": "Human" }, { 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XCIV. Adhesion G protein-coupled receptors.", "journal": "Pharmacol. 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"ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908443" }, { "id": "rs121908443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908443" }, { "id": "rs121908443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908443#frequency_tab" }, { "id": "rs121908443", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908443" }, { "id": "rs121908443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908443" }, { "id": "10359825", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10359825" } ], "glycoeffect": [], "start_pos": 333, "end_pos": 333, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "NC_000001.11", "chr_pos": "63419380", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000030", "site_lbl": "A333", "keywords": [ "ebi", "somatic", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080555", "recommended_name": { "id": "DOID:0080555", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080555", "name": "congenital disorder of glycosylation Ic", "description": "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31." }, "synonyms": [ { "id": "DOID:0080555", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080555", "name": "congenital disorder of glycosylation 1c", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C", "description": "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6 congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-CDG (CDG-Ic)", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-CDG1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDG syndrome type Ic", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDG-Ic", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDG1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDGIc", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "carbohydrate deficient glycoprotein syndrome type Ic", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "congenital disorder of glycosylation caused by mutation in ALG6", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "congenital disorder of glycosylation type 1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "congenital disorder of glycosylation type Ic", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "glucosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDG 1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDGS5 (formerly)", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome type 1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type V (formerly)", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "congenital disorder of glycosylation, type Ic", "description": "" }, { "id": "MIM:603147", "resource": "MIM", "url": "https://www.omim.org/entry/603147", "name": "Congenital disorder of glycosylation 1C", "description": "Congenital disorder of glycosylation 1C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011291", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291" }, { "id": "603147", "database": "MIM", "url": "https://www.omim.org/entry/603147" }, { "id": "ALG6", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG6/#!details" }, { "id": "29929", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/29929#disease" }, { "id": "0080555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080555" } ] } ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9Y672-1" } ], "record_id": "pubmed.10359825", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.", "journal": "Glycobiology", "date": "2000", "authors": "Takahashi T, Honda R, Nishikawa Y", "reference": { "type": "PubMed", "id": "10704531", "url": "https://pubmed.ncbi.nlm.nih.gov/10704531" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10704531", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of 16 novel human genes showing high similarity to yeast sequences.", "journal": "Yeast", "date": "2001", "authors": "Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G", "reference": { "type": "PubMed", "id": "11124703", "url": "https://pubmed.ncbi.nlm.nih.gov/11124703" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76003-1", "protein_name": "Glutaredoxin-3", "gene_name": "GLRX3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y4X5-1", "protein_name": "E3 ubiquitin-protein ligase ARIH1", "gene_name": "ARIH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95478-1", "protein_name": "Ribosome biogenesis protein NSA2 homolog", "gene_name": "NSA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NVX2-1", "protein_name": "Notchless protein homolog 1", "gene_name": "NLE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y697-1", "protein_name": "Cysteine desulfurase", "gene_name": "NFS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60841-1", "protein_name": "Eukaryotic translation initiation factor 5B", "gene_name": "EIF5B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75529-1", "protein_name": "TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L", "gene_name": "TAF5L", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43709-1", "protein_name": "18S rRNA (guanine-N(7))-methyltransferase", "gene_name": "BUD23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AT9-1", "protein_name": "Ribulose-phosphate 3-epimerase", "gene_name": "RPE", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43861-1", "protein_name": "Probable phospholipid-transporting ATPase IIB", "gene_name": "ATP9B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P98194-1", "protein_name": "Calcium-transporting ATPase type 2C member 1", "gene_name": "ATP2C1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UNQ2-1", "protein_name": "Dimethyladenosine transferase", "gene_name": "DIMT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2R4-1", "protein_name": "Probable ATP-dependent RNA helicase DDX52", "gene_name": "DDX52", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43766-1", "protein_name": "Lipoyl synthase, mitochondrial", "gene_name": "LIAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN4-1", "protein_name": "GPN-loop GTPase 1", "gene_name": "GPN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UG63-1", "protein_name": "ATP-binding cassette sub-family F member 2", "gene_name": "ABCF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWQ3-1", "protein_name": "Serine/threonine-protein kinase BRSK2", "gene_name": "BRSK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11124703", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The yeast ALG11 gene specifies addition of the terminal alpha 1,2-Man to the Man5GlcNAc2-PP-dolichol N-glycosylation intermediate formed on the cytosolic side of the endoplasmic reticulum.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Cipollo JF, Trimble RB, Chi JH, Yan Q, Dean N", "reference": { "type": "PubMed", "id": "11278778", "url": "https://pubmed.ncbi.nlm.nih.gov/11278778" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53954-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11278778", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.", "journal": "Nature", "date": "2002", "authors": "Helenius J, Ng DT, Marolda CL, Walter P, Valvano MA, Aebi M", "reference": { "type": "PubMed", "id": "11807558", "url": "https://pubmed.ncbi.nlm.nih.gov/11807558" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P38206-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11807558", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE", "reference": { "type": "PubMed", "id": "11983712", "url": "https://pubmed.ncbi.nlm.nih.gov/11983712" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs28942090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28942090" }, { "id": "rs28942090", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs28942090" }, { "id": "11983712", "database": "PubMed", "url": 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to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." }, "synonyms": [ { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "carbohydrate deficient glycoprotein syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "mannosyltransferase 8 deficiency", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG (CDG-Ig)", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG 1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation, type Ig", "description": "" }, { "id": "MIM:607143", "resource": "MIM", "url": "https://www.omim.org/entry/607143", "name": "Congenital disorder of glycosylation 1G", "description": "Congenital disorder of glycosylation 1G" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011783", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783" }, { "id": "607143", "database": "MIM", "url": "https://www.omim.org/entry/607143" }, { "id": "ALG12", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG12/#!details" }, { "id": "79087", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79087#disease" }, { "id": "0080559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9BV10-1" } ], "record_id": "pubmed.11983712", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": 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[] } ] }, { "title": "A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.", "journal": "Neurogenetics", "date": "2002", "authors": "Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD", "reference": { "type": "PubMed", "id": "12030331", "url": "https://pubmed.ncbi.nlm.nih.gov/12030331" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol 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"count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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"protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12200473", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", 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congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14." }, "synonyms": [ { "id": "DOID:0080560", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080560", "name": "congenital disorder of glycosylation 1h", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-CDG", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG syndrome type Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG-Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG1H", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": 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is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14." }, "synonyms": [ { "id": "DOID:0080560", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080560", "name": "congenital disorder of glycosylation 1h", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. 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"phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C", "reference": { "type": "PubMed", "id": "12684507", "url": "https://pubmed.ncbi.nlm.nih.gov/12684507" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43636-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs730880304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880304" }, { "id": "rs730880304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs730880304#frequency_tab" }, { "id": "rs730880304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs730880304" }, { "id": "12684507", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12684507" } ], "glycoeffect": [], "start_pos": 131, "end_pos": 131, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "99218792", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K131", "disease": [ { "disease_id": "DOID:0080561", "recommended_name": { "id": "DOID:0080561", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080561", "name": "congenital disorder of glycosylation Ii", "description": "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0080561", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080561", "name": "congenital disorder of glycosylation 1i", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "ALG2-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). 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The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "carbohydrate deficient glycoprotein syndrome type Ii", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "congenital disorder of glycosylation type 1i", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "congenital disorder of glycosylation type Ii", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "congenital disorder of glycosylation, type Ii", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "mannosyltransferase 2 deficiency", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "ALG2-CDG (CDG-II)", "description": "" }, { "id": "MONDO:0011933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933", "name": "carbohydrate-deficient glycoprotein syndrome type 1I", "description": "" }, { "id": "MIM:607906", "resource": "MIM", "url": "https://www.omim.org/entry/607906", "name": "Congenital disorder of glycosylation 1I", "description": "Congenital disorder of glycosylation 1I" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011933", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011933" }, { "id": "607906", "database": "MIM", "url": "https://www.omim.org/entry/607906" }, { "id": "85365", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/85365#disease" }, { "id": "0080561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080561" } ] }, { "disease_id": "DOID:0110669", "recommended_name": { "id": "DOID:0110669", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110669", "name": "congenital myasthenic syndrome 14", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0110669", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110669", "name": "CMS14", "description": "" }, { "id": "DOID:0110669", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110669", "name": "CMSTA3", "description": "" }, { "id": "DOID:0110669", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110669", "name": "congenital myasthenic syndrome with tubular aggregates 3", "description": "" }, { "id": "DOID:0110669", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110669", "name": "congenital myasthenic syndrome 14, with tubular aggregates", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "congenital myasthenic syndrome 14", "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "ALG2 congenital myasthenic syndromes with glycosylation defect", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "CMS14", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "CMSTA3", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "congenital myasthenic syndrome 14", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "congenital myasthenic syndrome type 14", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "myasthenic syndrome, congenital, 14, with tubular aggregates", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "myasthenic syndrome, congenital, type 14", "description": "" }, { "id": "MONDO:0014543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014543", "name": "myasthenic syndrome, congenital, 14", "description": "" }, { "id": "MIM:616228", "resource": "MIM", "url": "https://www.omim.org/entry/616228", "name": "Myasthenic syndrome, congenital, 14", "description": "Myasthenic syndrome, congenital, 14" } ], "unlinked_id_list": [], "evidence": [ { "id": "616228", "database": "MIM", "url": "https://www.omim.org/entry/616228" }, { "id": "0110669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110669" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.100", "uniprot_canonical_ac": "Q9H553-1" } ], "record_id": "pubmed.12684507", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.", "journal": "Human mutation", "date": "2003", "authors": "Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH", "reference": { "type": "PubMed", "id": "12872255", "url": "https://pubmed.ncbi.nlm.nih.gov/12872255" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": 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Ij", "description": "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0080562", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080562", "name": "Congenital disorder of glycosylation 1j", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation", "description": "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG syndrome type Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG-Ij", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDG1J", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "CDGIj", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-CDG", "description": "" }, { "id": "MONDO:0011964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation", 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"url": "https://disease-ontology.org/term/DOID:0110676", "name": "congenital myasthenic syndrome with tubular aggregates 2", "description": "" }, { "id": "DOID:0110676", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110676", "name": "congenital myasthenic syndrome 13 with tubular aggregates", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "congenital myasthenic syndrome 13", "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "CMS13", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013883", "name": "CMSTA2", "description": "" }, { "id": "MONDO:0013883", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0013883", "name": "myasthenic syndrome, congenital, 13", "description": "" }, { "id": "MIM:614750", "resource": "MIM", "url": "https://www.omim.org/entry/614750", "name": "Myasthenic syndrome, congenital, 13", "description": "Myasthenic syndrome, congenital, 13" } ], "unlinked_id_list": [], "evidence": [ { "id": "614750", "database": "MIM", "url": "https://www.omim.org/entry/614750" }, { "id": "DPAGT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPAGT1/#!details" }, { "id": "0110676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110676" } ] } ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q9H3H5-1" } ], "record_id": "pubmed.12872255", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.", "journal": "Human molecular genetics", "date": "2004", "authors": "Grubenmann CE, Frank CG, Hulsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T", "reference": { "type": "PubMed", "id": "14709599", "url": "https://pubmed.ncbi.nlm.nih.gov/14709599" }, 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"Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908340" }, { "id": "rs121908340", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908340" }, { "id": "rs121908340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908340" }, { "id": "rs121908340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908340" }, { "id": "14709599", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14709599" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "5075447", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S150", "disease": [ { "disease_id": "DOID:0080563", "recommended_name": { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation Ik", "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG-Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "carbohydrate deficient glycoprotein syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "mannosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG (CDG-Ik)", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG 1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": 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"sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.", "journal": "American journal of human genetics", "date": "2004", "authors": "Schwarz M, Thiel C, Lubbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Korner C", "reference": { "type": "PubMed", "id": "14973778", "url": "https://pubmed.ncbi.nlm.nih.gov/14973778" }, "referenced_glycans": [], "referenced_proteins": [ { 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ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q9BT22", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BT22" }, { "id": "rs28939378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28939378" }, { "id": "rs28939378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28939378" }, { "id": "rs28939378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28939378#frequency_tab" }, { "id": "rs28939378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28939378" }, { "id": "14973778", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14973778" }, { "id": "14973782", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14973782" }, { "id": "27325525", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/27325525" }, { "id": "rs28939378", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28939378" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 258, "end_pos": 258, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "16", "chr_pos": "5078789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S258", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0080563", "recommended_name": { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation Ik", "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG-Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "carbohydrate deficient glycoprotein syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "mannosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG (CDG-Ik)", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG 1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation, type Ik", "description": "" }, { "id": "MIM:608540", "resource": "MIM", "url": "https://www.omim.org/entry/608540", "name": "Congenital disorder of glycosylation 1K", "description": "Congenital disorder of glycosylation 1K" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" }, { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" } ] }, { "disease_id": "DOID:0080559", "recommended_name": { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation Ig", "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." }, "synonyms": [ { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "carbohydrate deficient glycoprotein syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "mannosyltransferase 8 deficiency", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG (CDG-Ig)", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:0080563", "recommended_name": { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation Ik", "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG-Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "carbohydrate deficient glycoprotein syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "mannosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG (CDG-Ik)", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG 1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation, type Ik", "description": "" }, { "id": "MIM:608540", "resource": "MIM", "url": "https://www.omim.org/entry/608540", "name": "Congenital disorder of glycosylation 1K", "description": "Congenital disorder of glycosylation 1K" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" }, { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" } ] }, { "disease_id": "DOID:0080559", "recommended_name": { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation Ig", "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." }, "synonyms": [ { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "carbohydrate deficient glycoprotein syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "mannosyltransferase 8 deficiency", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG (CDG-Ig)", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG 1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation, type Ig", "description": "" }, { "id": "MIM:607143", "resource": "MIM", "url": "https://www.omim.org/entry/607143", "name": "Congenital disorder of glycosylation 1G", "description": "Congenital disorder of glycosylation 1G" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011783", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783" }, { "id": "607143", "database": "MIM", "url": "https://www.omim.org/entry/607143" }, { "id": "ALG12", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG12/#!details" }, { "id": "79087", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79087#disease" }, { "id": "0080559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080559" } ] }, { "disease_id": "DOID:0080390", "recommended_name": { "id": "DOID:0080390", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080390", "name": "nephrotic syndrome type 1", "description": "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13." }, "synonyms": [ { "id": "DOID:0080390", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080390", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome - Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome - NPHS1 associated", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "CnF", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "NPHS1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome 1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis 1, congenital, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, type 1", "description": "" }, { "id": "MIM:256300", "resource": "MIM", "url": "https://www.omim.org/entry/256300", "name": "Nephrotic syndrome 1", "description": "Nephrotic syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080390" }, { "id": "0080390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080390" } ] }, { "disease_id": "DOID:2590", "recommended_name": { "id": "DOID:2590", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2590", "name": "familial nephrotic syndrome", "description": "A nephrotic syndrome that has_material_basis_in genetic mutations." }, "synonyms": [ { "id": "DOID:2590", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2590", "name": "Congenital nephrotic syndrome", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "Finnish congenital nephrosis", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome - Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome - NPHS1 associated", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "CnF", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "NPHS1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome 1", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "congenital nephrotic syndrome Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis 1, congenital, Finnish type", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrosis, congenital", "description": "" }, { "id": "MONDO:0009732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009732", "name": "nephrotic syndrome, type 1", "description": "" }, { "id": "MIM:256300", "resource": "MIM", "url": "https://www.omim.org/entry/256300", "name": "Nephrotic syndrome 1", "description": "Nephrotic syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "2590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2590" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "Q9BT22-1" }, { "evidence": [ { "id": "rs267606651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606651" }, { "id": "rs267606651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606651" }, { "id": "rs267606651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606651" }, { "id": "14973782", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14973782" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "5081009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q342", "disease": [ { "disease_id": "DOID:0080563", "recommended_name": { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation Ik", "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080563", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080563", "name": "congenital disorder of glycosylation 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG-Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "carbohydrate deficient glycoprotein syndrome type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type 1k", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation type Ik", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "mannosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "ALG1-CDG (CDG-Ik)", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "CDG 1K", "description": "" }, { "id": "MONDO:0012052", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012052", "name": "congenital disorder of glycosylation, type Ik", "description": "" }, { "id": "MIM:608540", "resource": "MIM", "url": "https://www.omim.org/entry/608540", "name": "Congenital disorder of glycosylation 1K", "description": "Congenital disorder of glycosylation 1K" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" }, { "id": "0080563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080563" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9BT22-1" } ], "record_id": "pubmed.14973782", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.", "journal": "American journal of human genetics", "date": "2004", "authors": "Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T", "reference": { "type": "PubMed", "id": "15148656", "url": "https://pubmed.ncbi.nlm.nih.gov/15148656" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908022" }, { "id": "rs121908022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908022" }, { "id": "15148656", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15148656" } ], "glycoeffect": [], "start_pos": 523, "end_pos": 523, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "111836179", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E523", "disease": [ { "disease_id": "DOID:0080564", "recommended_name": { "id": "DOID:0080564", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080564", "name": "congenital disorder of glycosylation Il", "description": "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0080564", "resource": "Disease Ontology", "url": 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Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "ALG9-CDG", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "ALG9-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "CDG syndrome type IL", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "CDG-IL", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "CDG1L", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "carbohydrate deficient glycoprotein syndrome type 1L", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "congenital disorder of glycosylation type 1L", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "mannosyltransferase 7-9 deficiency", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "ALG9-CDG (CDG-IL)", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "CDG 1L", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "carbohydrate deficient glycoprotein syndrome type IL", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "congenital disorder of glycosylation type IL", "description": "" }, { "id": "MONDO:0012117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117", "name": "congenital disorder of glycosylation, type IL", "description": "" }, { "id": "MIM:608776", "resource": "MIM", "url": "https://www.omim.org/entry/608776", "name": "Congenital disorder of glycosylation 1L", "description": "Congenital disorder of glycosylation 1L" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012117", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012117" }, { "id": "608776", "database": "MIM", "url": "https://www.omim.org/entry/608776" }, { "id": "ALG9", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG9/#!details" }, { "id": "79796", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79796#disease" }, { "id": "0080564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080564" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9H6U8-1" } ], "record_id": "pubmed.15148656", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).", "journal": "Journal of medical genetics", "date": "2004", "authors": "Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G", "reference": { "type": "PubMed", "id": "15235028", "url": "https://pubmed.ncbi.nlm.nih.gov/15235028" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908294" }, { "id": "rs121908294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908294" }, { "id": "rs121908294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908294#frequency_tab" }, { "id": "rs121908294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908294" }, { "id": "15235028", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15235028" } ], "glycoeffect": [], "start_pos": 275, "end_pos": 275, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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on chromosome 11q14." }, "synonyms": [ { "id": "DOID:0080560", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080560", "name": "congenital disorder of glycosylation 1h", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-CDG", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG syndrome type Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG-Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG1H", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": 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congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14." }, "synonyms": [ { "id": "DOID:0080560", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080560", "name": "congenital disorder of glycosylation 1h", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-CDG", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG syndrome type Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG-Ih", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011969", "name": "CDG1H", "description": "" }, { "id": "MONDO:0011969", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0054743", "name": "PCLD3", "description": "" }, { "id": "MIM:617874", "resource": "MIM", "url": "https://www.omim.org/entry/617874", "name": "Polycystic liver disease 3 with or without kidney cysts", "description": "Polycystic liver disease 3 with or without kidney cysts" } ], "unlinked_id_list": [], "evidence": [ { "id": "617874", "database": "MIM", "url": "https://www.omim.org/entry/617874" }, { "id": "0060976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060976" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "Q9BVK2-1" } ], "record_id": "pubmed.15235028", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ 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}, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3J3-1", "protein_name": "RanBP2-like and GRIP domain-containing protein 4", "gene_name": "RGPD4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99666-1", "protein_name": "RANBP2-like and GRIP domain-containing protein 5/6", "gene_name": "RGPD5; RGPD6", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NKT7-1", "protein_name": "RanBP2-like and GRIP domain-containing protein 3", "gene_name": "RGPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": 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endocrinology and metabolism", "date": "2005", "authors": "Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH", "reference": { "type": "PubMed", "id": "15840742", "url": "https://pubmed.ncbi.nlm.nih.gov/15840742" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": 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Ontology", "url": "https://disease-ontology.org/term/DOID:0080556", "name": "congenital disorder of glycosylation Id", "description": "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27." }, "synonyms": [ { "id": "DOID:0080556", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080556", "name": "congenital disorder of glycosylation 1d", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "ALG3-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "ALG3-CDG", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "ALG3-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "CDG syndrome type Id", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "CDG-Id", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "CDG1D", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "CDGId", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "carbohydrate deficient glycoprotein syndrome type Id", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "congenital disorder of glycosylation type 1d", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "congenital disorder of glycosylation type Id", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "mannosyltransferase 6 deficiency", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010998", "name": "ALG3-CDG (CDG-Id)", "description": "" }, { "id": "MONDO:0010998", "resource": "MONDO", "url": 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Part A", "date": "2005", "authors": "Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N", "reference": { "type": "PubMed", "id": "15945070", "url": "https://pubmed.ncbi.nlm.nih.gov/15945070" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { 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H, Sato T, Jigami Y, Dean N", "reference": { "type": "PubMed", "id": "16100110", "url": "https://pubmed.ncbi.nlm.nih.gov/16100110" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53178-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P38242-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16100110", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.", "journal": "Behavioral and brain functions : BBF", "date": "2006", "authors": "Baysal BE, Willett-Brozick JE, Bacanu SA, Detera-Wadleigh S, Nimgaonkar VL", "reference": { "type": "PubMed", "id": "16859551", "url": "https://pubmed.ncbi.nlm.nih.gov/16859551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16859551", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "In vitro evidence for the dual function of Alg2 and Alg11: essential mannosyltransferases in N-linked glycoprotein biosynthesis.", "journal": "Biochemistry", "date": "2006", "authors": "O'Reilly MK, Zhang G, Imperiali B", "reference": { "type": "PubMed", "id": "16878994", "url": "https://pubmed.ncbi.nlm.nih.gov/16878994" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43636-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "P53954-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 335, "end_pos": 335, "sequence_org": "E", "sequence_mut": "A", "comment": "Severely affects activity, especially the second mannosylation step.", "evidence": [ { "database": "UniProtKB", "id": "P43636", "url": "https://www.uniprot.org/uniprotkb/P43636" }, { "database": "PubMed", "id": "16878994", "url": "https://pubmed.ncbi.nlm.nih.gov/16878994" } ], "uniprot_canonical_ac": "P43636-1" }, { "start_pos": 343, "end_pos": 343, "sequence_org": "E", "sequence_mut": "A", "comment": "No activity.", "evidence": [ { "database": "UniProtKB", "id": "P43636", "url": "https://www.uniprot.org/uniprotkb/P43636" }, { "database": "PubMed", "id": "16878994", "url": "https://pubmed.ncbi.nlm.nih.gov/16878994" } ], "uniprot_canonical_ac": 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}, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human RFT1 deficiency leads to a disorder of N-linked glycosylation.", "journal": "American journal of human genetics", "date": "2008", "authors": "Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T", "reference": { "type": "PubMed", "id": "18313027", "url": "https://pubmed.ncbi.nlm.nih.gov/18313027" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "gene_name": "ALG11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6U8-1", "protein_name": "Alpha-1,2-mannosyltransferase ALG9", "gene_name": "ALG9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3H5-1", "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase", "gene_name": "DPAGT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5BKT4-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q96AA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AA3" }, { "id": "rs118203913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203913" }, { "id": "rs118203913", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203913" }, { "id": "rs118203913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs118203913#frequency_tab" }, { "id": "rs118203913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs118203913" }, { "id": "18313027", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18313027" }, { "id": "19701946", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19701946" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, llo pathway).", "chr_id": "3", "chr_pos": "53123791", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0080566", "recommended_name": { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation In", "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21." }, "synonyms": [ { "id": "DOID:0080566", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080566", "name": "congenital disorder of glycosylation 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG-In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDG1N", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "carbohydrate deficient glycoprotein syndrome type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type 1n", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "congenital disorder of glycosylation type In", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "CDGIN", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012783", "name": "RFT1-CDG (CDG-In)", "description": "" }, { "id": "MONDO:0012783", "resource": "MONDO", "url": 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.", "journal": "Pediatric research", "date": "2019", "authors": "Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupre T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I", "reference": { "type": "PubMed", "id": "30420707", "url": "https://pubmed.ncbi.nlm.nih.gov/30420707" }, 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protein-truncating variants are at increased risk of a mild cystic kidney disease.", "journal": "Kidney international", "date": "2022-12-24", "authors": "Apple Benjamin, Sartori Gino, Moore Bryn, Chintam Kiran, Singh Gurmukteshwar, Anand Prince Mohan, Strande Natasha, Mirshahi Tooraj, Triffo William, Chang Alexander R", "reference": { "type": "PubMed", "id": "36574950", "url": "https://pubmed.ncbi.nlm.nih.gov/36574950" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVK2", "url": "https://www.uniprot.org/uniprotkb/Q9BVK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36574950", "abstract": "", "glycosylation": [], "mutagenesis": [], 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"count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae.", "journal": "Glycobiology", "date": "1998", "authors": "Eckert V, Blank M, Mazhari-Tabrizi R, Mumberg D, Funk M, Schwarz RT", "reference": { "type": "PubMed", "id": "9451016", "url": "https://pubmed.ncbi.nlm.nih.gov/9451016" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BVK2-1", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BT22-1", "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92685-1", "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BV10-1", "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP73-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96F25-1", "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H553-1", "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75352-1", "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AA3-1", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5I7T1-1", "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "gene_name": "ALG10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2TAA5-1", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol 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