{ "uniprot_canonical_ac": "P04264-1", "uniprot_ac": "P04264", "uniprot_id": "K2C1_HUMAN", "mass": { "chemical_mass": 66039.0, "monoisotopic_mass": 66039.0 }, "refseq": { "ac": "NP_006112", "name": "keratin, type II cytoskeletal 1", "summary": "The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, "gene_names": [ { "name": "KRT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04264", "id": "P04264" }, { "name": "AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A; NEPPK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "id": "NP_006112" }, { "name": "KRT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "id": "NP_006112" }, { "name": "KRTA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04264", "id": "P04264" } ], "protein_names": [ { "name": "Keratin, type II cytoskeletal 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04264" }, { "name": "67 kDa cytokeratin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "CK-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "Cytokeratin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "Hair alpha protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "K1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "Keratin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "Type-II keratin Kb1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04264" }, { "name": "epidermolytic hyperkeratosis 1; cytokeratin 1; hair alpha protein; CK-1; 67 kDa cytokeratin; type-II keratin Kb1; keratin 1, type II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "id": "NP_006112" }, { "name": "keratin, type II cytoskeletal 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "id": "NP_006112" } ], "function": [ { "annotation": "Associations of serum keratin 1 with thyroid function and immunity in Graves' disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, { "database": "PubMed", "id": "38019813", "url": "https://glygen.org/publication/PubMed/38019813" } ] }, { "annotation": "Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, { "database": "PubMed", "id": "35623459", "url": "https://glygen.org/publication/PubMed/35623459" } ] }, { "annotation": "May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264#function" }, { "database": "PubMed", "id": "17956333", "url": "https://glygen.org/publication/PubMed/17956333" }, { "database": "PubMed", "id": "21544310", "url": "https://glygen.org/publication/PubMed/21544310" } ] }, { "annotation": "Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, { "database": "PubMed", "id": "35964051", "url": "https://glygen.org/publication/PubMed/35964051" } ] }, { "annotation": "The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1. Erratum:[Cells. 2023 Jun 21;12(13):. PMID: 37443844] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, { "database": "PubMed", "id": "36231117", "url": "https://glygen.org/publication/PubMed/36231117" } ] }, { "annotation": "The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" } ] }, { "annotation": "Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.", "evidence": [ { "database": "RefSeq", "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112" }, { "database": "PubMed", "id": "37170713", "url": "https://glygen.org/publication/PubMed/37170713" } ] } ], "disease": [ { "disease_id": "DOID:0050428", "recommended_name": { "id": "DOID:0050428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050428", "name": "nonepidermolytic palmoplantar keratoderma", "description": "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." }, "synonyms": [ { "id": "DOID:0050428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050428", "name": "Thost-Unna Syndrome", "description": "" }, { "id": "DOID:0050428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050428", "name": "Unna-Thost Syndrome", "description": "" }, { "id": "DOID:0050428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050428", "name": "diffuse nonepidermolytic palmomplantar keratoderma", "description": "" }, { "id": "DOID:0050428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050428", "name": "tylosis", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "diffuse nonepidermolytic palmoplantar keratoderma", "description": "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "KRT1-related diffuse nonepidermolytic keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "NEPPK", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "diffuse nonepidermolytic palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "diffuse palmoplantar keratoderma, Bothnian type", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "non-epidermolytic palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "nonepidermolytic palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "palmoplantar keratoderma, nonepidermolytic", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "PPK diffusa circumscripta", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "PPKNE", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "Thost-Unna disease", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "Thost-Unna palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "Thost-Unna syndrome", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "Unna-Thost palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "Unna-Thost syndrome", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "diffuse NEPPK", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "keratoderma, nonepidermolytic palmoplantar", "description": "" }, { "id": "MONDO:0010962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010962", "name": "tylosis", "description": "" }, { "id": "MIM:600962", "resource": "MIM", "url": "https://www.omim.org/entry/600962", "name": "Keratoderma, palmoplantar, non-epidermolytic", "description": "Keratoderma, palmoplantar, non-epidermolytic" } ], "evidence": [ { "id": "600962", "database": "MIM", "url": "https://www.omim.org/entry/600962" } ] }, { "disease_id": "DOID:0081110", "recommended_name": { "id": "DOID:0081110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081110", "name": "keratosis palmoplantaris striata 3", "description": "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13." }, "synonyms": [ { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "keratosis palmoplantaris striata 3", "description": "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "KRT1 striate palmoplantar keratoderma", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "keratosis palmoplantaris striata type 3", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "striate palmoplantar keratoderma caused by mutation in KRT1", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "PPKS3", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "keratoderma palmoplantar striate form 3", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "keratoderma, palmoplantar, striate form 3", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "keratosis palmoplantaris striata III", "description": "" }, { "id": "MONDO:0011881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011881", "name": "striate palmoplantar keratoderma 3", "description": "" }, { "id": "MIM:607654", "resource": "MIM", "url": "https://www.omim.org/entry/607654", "name": "Keratoderma, palmoplantar, striate 3", "description": "Keratoderma, palmoplantar, striate 3" } ], "evidence": [ { "id": "607654", "database": "MIM", "url": "https://www.omim.org/entry/607654" } ] }, { "disease_id": "DOID:0081358", "recommended_name": { "id": "DOID:0081358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081358", "name": "epidermolytic hyperkeratosis 1", "description": "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13." }, "synonyms": [ { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "BCIE", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EHK", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EI", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma of Brock", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic palmoplantar hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "ichthyosis hystrix Brocq type", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "autosomal dominant epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous erythroderma Ichthyosiformis congenita of Brocq", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma congenita", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "congenital bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis, late-onset", "description": "" }, { "id": "MIM:113800", "resource": "MIM", "url": "https://www.omim.org/entry/113800", "name": "Epidermolytic hyperkeratosis 1", "description": "Epidermolytic hyperkeratosis 1" } ], "evidence": [ { "id": "113800", "database": "MIM", "url": "https://www.omim.org/entry/113800" } ] }, { "disease_id": "DOID:4603", "recommended_name": { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "epidermolytic hyperkeratosis", "description": "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth." }, "synonyms": [ { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "Bullous ichthyosiform erythroderma", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "Epidermolytic palmoplantar hyperkeratosis", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "bullous congenital ichthyosiform erythroderma", "description": "" }, { "id": "DOID:4603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4603", "name": "epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "BCIE", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EHK", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "EI", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous congenital ichthyosiform erythroderma of Brock", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic palmoplantar hyperkeratosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "ichthyosis hystrix Brocq type", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "autosomal dominant epidermolytic ichthyosis", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous erythroderma Ichthyosiformis congenita of Brocq", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "bullous ichthyosiform erythroderma congenita", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "congenital bullous ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007239", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007239", "name": "epidermolytic hyperkeratosis, late-onset", "description": "" }, { "id": "MIM:113800", "resource": "MIM", "url": "https://www.omim.org/entry/113800", "name": "Epidermolytic hyperkeratosis 1", "description": "Epidermolytic hyperkeratosis 1" } ], "evidence": [ { "id": "113800", "database": "MIM", "url": "https://www.omim.org/entry/113800" } ] }, { "disease_id": "MONDO:0007808", "recommended_name": { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "ichthyosis hystrix of Curth-Macklin", "description": "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." }, "synonyms": [ { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "ichthyosis histrix, curth-macklin type", "description": "" }, { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "ichthyosis hystrix, Curth-Macklin type", "description": "" }, { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "Curth-Macklin type ichthyosis hystrix", "description": "" }, { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "IHCM", "description": "" }, { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "ichthyosis HYSTRIX, Curth-Macklin type", "description": "" }, { "id": "MONDO:0007808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007808", "name": "ichthyosis hystrix, Curth Macklin type", "description": "" }, { "id": "MIM:146590", "resource": "MIM", "url": "https://www.omim.org/entry/146590", "name": "Ichthyosis hystrix, Curth-Macklin type", "description": "Ichthyosis hystrix, Curth-Macklin type" } ], "evidence": [ { "id": "146590", "database": "MIM", "url": "https://www.omim.org/entry/146590" } ] }, { "disease_id": "MONDO:0859574", "recommended_name": { "id": "MONDO:0859574", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859574", "name": "ichthyosis, annular epidermolytic, 2", "description": "" }, "synonyms": [ { "id": "MIM:620148", "resource": "MIM", "url": "https://www.omim.org/entry/620148", "name": "Ichthyosis, annular epidermolytic, 2", "description": "Ichthyosis, annular epidermolytic, 2" } ], "evidence": [ { "id": "620148", "database": "MIM", "url": "https://www.omim.org/entry/620148" } ] } ], "snv": [ { "evidence": [ { "id": "rs952884616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952884616" }, { "id": "rs952884616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs952884616" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 220, "end_pos": 220, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TST->NST).", "chr_id": "12", "chr_pos": "52678689", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04264" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 248, "end_pos": 248, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "12", "chr_pos": "52678606", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D248", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs553703802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553703802" }, { "id": "rs553703802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553703802" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 270, "end_pos": 270, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKY->NKS).", "chr_id": "12", "chr_pos": "52678221", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04264" } ], "glycoeffect": [], "start_pos": 29, "end_pos": 29, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "52680264", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R29", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"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", 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"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 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"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": "P04264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04264" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04264" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04264" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P04264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04264" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "common_name": "Human" } ], "gene": [ { "name": "KRT1", "url": "https://www.uniprot.org/uniprot/P04264", "locus": { "chromosome": "12", "start_pos": 52674736, "end_pos": 52680407, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000167768", "url": "https://www.ensembl.org/id/ENSG00000167768" } ] } } ], "crossref": [ { "id": "ENSG00000167768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167768", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P04264", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04264", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "KRT1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT1", "database": "GeneCards", "categories": [ 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45616", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45616:SF33", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45616:SF33", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4ZRY", "url": "https://www.rcsb.org/structure/4ZRY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E2J", "url": "https://www.rcsb.org/structure/6E2J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6UUI", "url": "https://www.rcsb.org/structure/6UUI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16208", "url": "http://pfam.xfam.org/family/PF16208", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16210", "url": "http://pfam.xfam.org/family/PF16210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04264", "url": "https://pharos.nih.gov/targets/P04264", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04264", "url": "http://purl.obolibrary.org/obo/PR_P04264", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P04264", "url": "DISABLED", "database": "UniCarbKB", 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CANONICAL=P04264-1" }, "locus": { "chromosome": "12", "start_pos": 52680348, "end_pos": 52675196, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252244.3", "url": "https://www.ensembl.org/id/ENST00000252244.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000252244.3", "url": "https://www.ensembl.org/id/ENSP00000252244.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "P04264", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04264" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "P04264", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04264" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "MSGECAPNVSVSVSTSHTTISGGGSR", "relation": "attached", "comment": "", "start_pos": 493, "start_aa": "Met", "end_pos": 518, "end_aa": "Arg", "evidence": [ { "id": "P04264", "database": "UniCarbKB", "url": "" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 494, "start_aa": "Ser", "end_pos": 494, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser494", "evidence": [ { "id": "P04264", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04264" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 500, "start_aa": "Asn", "end_pos": 500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn500", "evidence": [ { "id": "1952", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1952" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 500, "start_aa": "Asn", "end_pos": 500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn500", "evidence": [ { "id": "1952", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1952" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 500, "start_aa": "Asn", "end_pos": 500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn500", "evidence": [ { "id": "1952", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1952" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 517, "start_aa": "Ser", "end_pos": 517, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser517", "evidence": [ { "id": "P04264", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04264" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 527, "start_aa": "Ser", "end_pos": 527, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser527", "evidence": [ { "id": "P04264", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04264" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", 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Dermatol.", "date": "2001", "authors": "Hatsell S J, Eady R A, Wennerstrand L, Dopping-Hepenstal P, Leigh I M, Munro C, Kelsell D P", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "11286630", "url": "https://glygen.org/publication/PubMed/11286630" } ] }, { "title": "Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter.", "journal": "Genomics", "date": "2001", "authors": "Wang A, Johnson DG, MacLeod MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11350120", "url": "https://glygen.org/publication/PubMed/11350120" } ] }, { "title": "Proprotein convertase expression and localization in epidermis: evidence for multiple roles and substrates.", "journal": "Experimental dermatology", "date": "2001", "authors": "Pearton DJ, Nirunsuksiri W, Rehemtulla A, Lewis SP, Presland RB, Dale BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11380615", "url": "https://glygen.org/publication/PubMed/11380615" } ] }, { "title": "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.", "journal": "The British journal of dermatology", "date": "2001", "authors": "Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "11531804", "url": "https://glygen.org/publication/PubMed/11531804" } ] }, { "title": "Assembly of the epidermal cornified cell envelope.", "journal": "Journal of cell science", "date": "2001", "authors": "Kalinin A, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11590230", "url": "https://glygen.org/publication/PubMed/11590230" } ] }, { "title": "Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination.", "journal": "The Journal of investigative dermatology", "date": "2002", "authors": "Ishida-Yamamoto A, Senshu T, Eady RA, Takahashi H, Shimizu H, Akiyama M, Iizuka H", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "11841545", "url": "https://glygen.org/publication/PubMed/11841545" } ] }, { "title": "Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.", "journal": "J. 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"title": "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).", "journal": "The Journal of investigative dermatology", "date": "1994", "authors": "McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "7507152", "url": "https://glygen.org/publication/PubMed/7507152" } ] }, { "title": "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "7512983", "url": "https://glygen.org/publication/PubMed/7512983" } ] }, { "title": "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.", "journal": "The Journal of investigative dermatology", "date": "1994", "authors": "Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG", "evidence": [ { "database": "UniProtKB", "id": "P04264", "url": "https://www.uniprot.org/uniprot/P04264" } ], "reference": [ { "type": "PubMed", "id": "7528239", "url": "https://glygen.org/publication/PubMed/7528239" } ] }, { "title": "The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small 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"field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 115 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }