{ "uniprot_canonical_ac": "P07196-1", "uniprot_ac": "P07196", "uniprot_id": "NFL_HUMAN", "mass": { "chemical_mass": 61517.0, "monoisotopic_mass": 61517.0 }, "refseq": { "ac": "NP_006149", "name": "neurofilament light polypeptide", "summary": "Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149" }, "gene_names": [ { "name": "NEFL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07196", "id": "P07196" }, { "name": "CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL; PPP1R110", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149", "id": "NP_006149" }, { "name": "NEFL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149", "id": "NP_006149" }, { "name": "NF68", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07196", "id": "P07196" }, { "name": "NFL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07196", "id": "P07196" } ], "protein_names": [ { "name": "Neurofilament light polypeptide", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07196" }, { "name": "68 kDa neurofilament protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07196" }, { "name": "NF-L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07196" }, { "name": "Neurofilament triplet L protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07196" }, { "name": "neurofilament light polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149", "id": "NP_006149" }, { "name": "neurofilament, light polypeptide 68kDa; neurofilament protein, light chain; light molecular weight neurofilament protein; neurofilament triplet L protein; neurofilament subunit NF-L; protein phosphatase 1, regulatory subunit 110", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149", "id": "NP_006149" } ], "function": [ { "annotation": "Clinical Evaluation of Cerebrospinal Fluid p217tau and Neurofilament Light Chain Levels in Patients with Alzheimer's Disease or Other Neurological Diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_006149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149" }, { "database": "PubMed", "id": "38007650", "url": "https://glygen.org/publication/PubMed/38007650" } ] }, { "annotation": "LINC01579-204 involved in the development of Hirschsprung's disease maybe by regulating the expression of miR-203a-3p and NEFL.", "evidence": [ { "database": "RefSeq", "id": "NP_006149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149" }, { "database": "PubMed", "id": "37923059", "url": "https://glygen.org/publication/PubMed/37923059" } ] }, { "annotation": "Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149" } ] }, { "annotation": "Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P07196", "url": "https://www.uniprot.org/uniprot/P07196#function" }, { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprot/P08551#function" } ] }, { "annotation": "Serum beta-synuclein, neurofilament light chain and glial fibrillary acidic protein as prognostic biomarkers in moderate-to-severe acute ischemic stroke. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006149" }, { "database": "PubMed", "id": "38017278", "url": "https://glygen.org/publication/PubMed/38017278" } ] } ], "disease": [ { "disease_id": "DOID:0080294", "recommended_name": { "id": "DOID:0080294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080294", "name": "Charcot-Marie-Tooth disease dominant intermediate G", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21." }, "synonyms": [ { "id": "MONDO:0036484", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0036484", "name": "Charcot-Marie-Tooth disease, dominant intermediate G", "description": "" }, { "id": "MONDO:0036484", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0036484", "name": "Charcot-Marie-Tooth disease, dominant intermediate G", "description": "" }, { "id": "MONDO:0036484", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0036484", "name": "CMTDIG", "description": "" }, { "id": "MONDO:0036484", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0036484", "name": "Charcot-Marie-Tooth disease dominant intermediate G", "description": "" }, { "id": "MIM:617882", "resource": "MIM", "url": "https://www.omim.org/entry/617882", "name": "Charcot-Marie-Tooth disease, dominant intermediate G", "description": "Charcot-Marie-Tooth disease, dominant intermediate G" } ], "evidence": [ { "id": "617882", "database": "MIM", "url": "https://www.omim.org/entry/617882" } ] }, { "disease_id": "DOID:0110149", "recommended_name": { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "Charcot-Marie-Tooth disease type 1F", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene." }, "synonyms": [ { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "CMT1F", "description": "" }, { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "Charcot-Marie-Tooth neuropathy type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth disease type 1F", "description": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "CMT1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth disease, type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth neuropathy type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "NEFL Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "CMT 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot Marie Tooth disease type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth neuropathy, type 1F", "description": "" }, { "id": "MIM:607734", "resource": "MIM", "url": "https://www.omim.org/entry/607734", "name": "Charcot-Marie-Tooth disease, demyelinating, 1F", "description": "Charcot-Marie-Tooth disease, demyelinating, 1F" } ], "evidence": [ { "id": "607734", "database": "MIM", "url": "https://www.omim.org/entry/607734" } ] }, { "disease_id": "DOID:0110165", "recommended_name": { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth disease type 2E", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21." }, "synonyms": [ { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "CMT2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2E", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "NEFL Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot Marie Tooth disease type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, axonal, type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth neuropathy, type 2E", "description": "" }, { "id": "MIM:607684", "resource": "MIM", "url": "https://www.omim.org/entry/607684", "name": "Charcot-Marie-Tooth disease, axonal, 2E", "description": "Charcot-Marie-Tooth disease, axonal, 2E" } ], "evidence": [ { "id": "607684", "database": "MIM", "url": "https://www.omim.org/entry/607684" } ] } ], "snv": [ { "evidence": [ { "id": "rs58640772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs58640772" }, { "id": "16619203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16619203" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->null).", "chr_id": "8", "chr_pos": "24956457_24956469", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110165", "recommended_name": { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth disease type 2E", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21." }, "synonyms": [ { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "CMT2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2E", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "NEFL Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot Marie Tooth disease type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, axonal, type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth neuropathy, type 2E", "description": "" }, { "id": "MIM:607684", "resource": "MIM", "url": "https://www.omim.org/entry/607684", "name": "Charcot-Marie-Tooth disease, axonal, 2E", "description": "Charcot-Marie-Tooth disease, axonal, 2E" } ] } ] }, { "evidence": [ { "id": "rs747071811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747071811" }, { "id": "rs747071811", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747071811" }, { "id": "rs747071811", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747071811" }, { "id": "rs747071811", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747071811#frequency_tab" }, { "id": "rs747071811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747071811" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 253, "end_pos": 253, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "8", "chr_pos": "24955759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs924170559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924170559" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 25, "end_pos": 25, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HIS->NIS).", "chr_id": "8", "chr_pos": "24956443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H25", "disease": [ { "disease_id": "DOID:0110149", "recommended_name": { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "Charcot-Marie-Tooth disease type 1F", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene." }, "synonyms": [ { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "CMT1F", "description": "" }, { "id": "DOID:0110149", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110149", "name": "Charcot-Marie-Tooth neuropathy type 1F", "description": "" }, { "id": "MONDO:0011902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011902", "name": "Charcot-Marie-Tooth disease type 1F", "description": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. 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Other signs may be present, including hearing loss and postural tremor." }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "NEFL Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011894", "resource": 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"end_pos": 403, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "8", "chr_pos": "24953758", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772452328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772452328" }, { "id": "rs772452328", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772452328" }, { "id": "rs772452328", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772452328#frequency_tab" }, { "id": "rs772452328", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772452328" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 407, "end_pos": 407, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "8", "chr_pos": "24953746", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs903287181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903287181" }, { "id": "rs903287181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs903287181" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 409, "end_pos": 409, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "8", "chr_pos": "24953740", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs903287181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903287181" }, { "id": "rs903287181", "database": "gnomAD", "url": 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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: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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "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:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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: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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "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": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07196" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07196" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07196" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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Biochem.", "date": "1983", "authors": "Nomata Y, Watanabe T, Wada H", "evidence": [ { "database": "UniProtKB", "id": "P07196", "url": "https://www.uniprot.org/uniprot/P07196" } ], "reference": [ { "type": "PubMed", "id": "6135695", "url": "https://glygen.org/publication/PubMed/6135695" } ] }, { "title": "Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Gibbs JB, Sigal IS, Poe M, Scolnick EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "6148751", "url": "https://glygen.org/publication/PubMed/6148751" } ] }, { "title": "Identification of the guanine nucleotide dissociation stimulator for Ral as a putative effector molecule of R-ras, H-ras, K-ras, and Rap.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Spaargaren M, Bischoff JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7809086", "url": "https://glygen.org/publication/PubMed/7809086" } ] }, { "title": "ralGDS family members interact with the effector loop of ras p21.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Kikuchi A, Demo SD, Ye ZH, Chen YW, Williams LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7935463", "url": "https://glygen.org/publication/PubMed/7935463" } ] }, { "title": "Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Hofer F, Fields S, Schneider C, Martin GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7972015", "url": "https://glygen.org/publication/PubMed/7972015" } ] }, { "title": "Phosphatidylinositol-3-OH kinase as a direct target of Ras.", "journal": "Nature", "date": "1994", "authors": "Rodriguez-Viciana P, Warne PH, Dhand R, Vanhaesebroeck B, Gout I, Fry MJ, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8052307", "url": "https://glygen.org/publication/PubMed/8052307" } ] }, { "title": "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells.", "journal": "Cell Growth Differ.", "date": "1994", "authors": "Pospelov V A, Pospelova T V, Julien J P", "evidence": [ { "database": "UniProtKB", "id": "P07196", "url": "https://www.uniprot.org/uniprot/P07196" } ], "reference": [ { "type": "PubMed", "id": "8180132", "url": "https://glygen.org/publication/PubMed/8180132" } ] }, { "title": "Growth factors induce nuclear translocation of MAP kinases (p42mapk and p44mapk) but not of their activator MAP kinase kinase (p45mapkk) in fibroblasts.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Lenormand P, Sardet C, Pages G, L'Allemain G, Brunet A, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8394845", "url": "https://glygen.org/publication/PubMed/8394845" } ] }, { "title": "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Chardin P, Camonis JH, Gale NW, van Aelst L, 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