{ "uniprot_canonical_ac": "P10275-1", "uniprot_ac": "P10275", "uniprot_id": "ANDR_HUMAN", "mass": { "chemical_mass": 99188.0, "monoisotopic_mass": 99188.0 }, "refseq": { "ac": "NP_000035", "name": "androgen receptor isoform 1", "summary": "The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035" }, "gene_names": [ { "name": "AR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10275", "id": "P10275" }, { "name": "AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035", "id": "NP_000035" }, { "name": "AR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035", "id": "NP_000035" }, { "name": "DHTR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10275", "id": "P10275" }, { "name": "NR3C4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10275", "id": "P10275" } ], "protein_names": [ { "name": "Androgen receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10275" }, { "name": "Dihydrotestosterone receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10275" }, { "name": "Nuclear receptor subfamily 3 group C member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10275" }, { "name": "androgen receptor isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035", "id": "NP_000035" }, { "name": "dihydrotestosterone receptor; nuclear receptor subfamily 3 group C member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035", "id": "NP_000035" } ], "function": [ { "annotation": "Data suggest an important role of AR45 in modulating AR function and add a novel level of complexity to the mode of action of androgens", "evidence": [ { "database": "RefSeq", "id": "NP_000035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035" }, { "database": "PubMed", "id": "15634333", "url": "https://glygen.org/publication/PubMed/15634333" } ] }, { "annotation": "Lacks the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275#function" }, { "database": "PubMed", "id": "19244107", "url": "https://glygen.org/publication/PubMed/19244107" } ] }, { "annotation": "Regulation of androgen receptor stability by the beta1 Pix/STUB1 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_000035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035" }, { "database": "PubMed", "id": "38197270", "url": "https://glygen.org/publication/PubMed/38197270" } ] }, { "annotation": "Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275#function" }, { "database": "PubMed", "id": "17911242", "url": "https://glygen.org/publication/PubMed/17911242" }, { "database": "PubMed", "id": "18084323", "url": "https://glygen.org/publication/PubMed/18084323" }, { "database": "PubMed", "id": "20980437", "url": "https://glygen.org/publication/PubMed/20980437" }, { "database": "PubMed", "id": "14664718", "url": "https://glygen.org/publication/PubMed/14664718" }, { "database": "PubMed", "id": "19345326", "url": "https://glygen.org/publication/PubMed/19345326" }, { "database": "PubMed", "id": "20812024", "url": "https://glygen.org/publication/PubMed/20812024" }, { "database": "PubMed", "id": "19022849", "url": "https://glygen.org/publication/PubMed/19022849" }, { "database": "PubMed", "id": "17591767", "url": "https://glygen.org/publication/PubMed/17591767" }, { "database": "PubMed", "id": "15563469", "url": "https://glygen.org/publication/PubMed/15563469" }, { "database": "PubMed", "id": "25091737", "url": "https://glygen.org/publication/PubMed/25091737" } ] }, { "annotation": "The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035" } ] }, { "annotation": "The membrane-associated AR8 isoform may contribute to castration resistance by potentiating AR-mediated proliferative and survival responses to hormones and growth factors.", "evidence": [ { "database": "RefSeq", "id": "NP_000035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000035" }, { "database": "PubMed", "id": "21878636", "url": "https://glygen.org/publication/PubMed/21878636" } ] } ], "disease": [ { "disease_id": "DOID:0060161", "recommended_name": { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "Kennedy's disease", "description": "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor." }, "synonyms": [ { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "Kennedy disease", "description": "" }, { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "SBMA", "description": "" }, { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "Spinobulbar Muscular Atrophy", "description": "" }, { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "X-Linked Bulbo-Spinal Atrophy", "description": "" }, { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "X-linked Spinal and Bulbar Muscular Atrophy", "description": "" }, { "id": "DOID:0060161", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060161", "name": "spinal bulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "Kennedy disease", "description": "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "Kennedy disease", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "Kennedy's disease", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "SBMA", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "SMAX1", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "X-linked BSMA", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "X-linked bulbo-spinal atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "X-linked bulbospinal amyotrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "X-linked bulbospinal muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "X-linked spinal and bulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinal and bulbar muscular atrophy, X-linked type 1", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinal bulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinobulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "Kennedy spinal and bulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "bulbospinal muscular atrophy, X-linked", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "bulbospinal neuronopathy, X-linked recessive", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinal and bulbar muscular atrophy", "description": "" }, { "id": "MONDO:0010735", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010735", "name": "spinal and bulbar muscular atrophy, X-linked 1", "description": "" }, { "id": "MIM:313200", "resource": "MIM", "url": "https://www.omim.org/entry/313200", "name": "Spinal and bulbar muscular atrophy X-linked 1", "description": "Spinal and bulbar muscular atrophy X-linked 1" } ], "evidence": [ { "id": "313200", "database": "MIM", "url": "https://www.omim.org/entry/313200" } ] }, { "disease_id": "DOID:0080776", "recommended_name": { "id": "DOID:0080776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080776", "name": "partial androgen insensitivity syndrome", "description": "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action." }, "synonyms": [ { "id": "DOID:0080776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080776", "name": "Reifenstein syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen insensitivity syndrome", "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "PAIS", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pais", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen resistance syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen resistance syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "incomplete male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen insensitivity syndrome", "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "PAIS", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pais", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen resistance syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen resistance syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "incomplete male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen insensitivity syndrome", "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "PAIS", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "Reifenstein syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pais", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "partial androgen resistance syndrome", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen insensitivity syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "androgen resistance syndrome, partial", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "incomplete male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0010720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism", "description": "" }, { "id": "MIM:312300", "resource": "MIM", "url": "https://www.omim.org/entry/312300", "name": "Androgen insensitivity, partial", "description": "Androgen insensitivity, partial" } ], "evidence": [ { "id": "312300", "database": "MIM", "url": "https://www.omim.org/entry/312300" } ] }, { "disease_id": "DOID:10892", "recommended_name": { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." }, "synonyms": [ { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "familial hypospadias", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal, multifactorial", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "HYSP3", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "HYSP4", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked, susceptibility to", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "HYSP2", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "HYSP1", "description": "" }, { "id": "MIM:300758", "resource": "MIM", "url": "https://www.omim.org/entry/300758", "name": "Hypospadias 2, X-linked", "description": "Hypospadias 2, X-linked" }, { "id": "MIM:300633", "resource": "MIM", "url": 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"id": "DOID:4674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4674", "name": "Feminisation - testicular", "description": "" }, { "id": "DOID:4674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4674", "name": "Goldberg - Maxwell syndrome", "description": "" }, { "id": "DOID:4674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4674", "name": "Goldberg-Maxwell syndrome", "description": "" }, { "id": "DOID:4674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4674", "name": "testicular Feminization syndrome", "description": "" }, { "id": "DOID:4674", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4674", "name": "testicular feminization", "description": "" }, { "id": "MONDO:0019154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019154", "name": "androgen insensitivity syndrome", "description": "Androgen 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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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P10275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10275" } ], "glycoeffect": [], "start_pos": 608, "end_pos": 608, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "67686064", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R608", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is 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"" }, { "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 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"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": 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"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" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", 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"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", 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"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": "P10275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10275" } ], "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": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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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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{ "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 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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", 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10275" } ], "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/P10275" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ", "length": 920, "header": "sp|P10275-1|ANDR_HUMAN Isoform 1 of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 CANONICAL=P10275-1" }, "isoforms": [ { "isoform_ac": "A0A087WUX9-1", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRNTRRKRLWKLIIRSINSCICSPRETEVPVRQQK", "length": 572, "header": "tr|A0A087WUX9-1|A0A087WUX9_HUMAN Computationally mapped isoform of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=1 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67686040, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613054.2", "url": "https://www.ensembl.org/id/ENST00000613054.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000479013.1", "url": "https://www.ensembl.org/id/ENSP00000479013.1" } ] } }, { "isoform_ac": "A0A087X1B6-1", "url": "", "sequence": { "sequence": "MQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIKANLFARIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ", "length": 737, "header": "tr|A0A087X1B6-1|A0A087X1B6_HUMAN Computationally mapped isoform of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=1 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67723838, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000612452", "url": "https://www.ensembl.org/id/ENST00000612452" }, { "database": "Ensembl Peptide", "id": "ENSP00000484033", "url": "https://www.ensembl.org/id/ENSP00000484033" } ] } }, { "isoform_ac": "A0A7I2PS51-1", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRRCCEQRGIPRRSSVPSSCLCKCLPEAAGGWLCTGLCTGNQGNECRVLLTLPVTFSHDTLASQFGDCQGPCFAH", "length": 612, "header": "tr|A0A7I2PS51-1|ANDR_HUMAN Computationally mapped isoform of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=2 CANONICAL=P10275-1" }, "locus": {} }, { "isoform_ac": "E9PEG3-1", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGFFRMNKLKES", "length": 600, "header": "tr|E9PEG3-1|E9PEG3_HUMAN Computationally mapped isoform of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=1 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67680751, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514029.5", "url": "https://www.ensembl.org/id/ENST00000514029.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425199.1", "url": "https://www.ensembl.org/id/ENSP00000425199.1" } ] } }, { "isoform_ac": "F5GZG9-1", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPDCERAASVHF", "length": 734, "header": "tr|F5GZG9-1|ANDR_HUMAN Computationally mapped isoform of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=1 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67723714, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396044.8", "url": "https://www.ensembl.org/id/ENST00000396044.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000379359.3", "url": "https://www.ensembl.org/id/ENSP00000379359.3" } ] } }, { "isoform_ac": "P10275-1", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ", "length": 920, "header": "sp|P10275-1|ANDR_HUMAN Isoform 1 of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67723838, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374690.9", "url": "https://www.ensembl.org/id/ENST00000374690.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000363822.3", "url": "https://www.ensembl.org/id/ENSP00000363822.3" } ] } }, { "isoform_ac": "P10275-2", "url": "", "sequence": { "sequence": "MILWLHSLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ", "length": 388, "header": "sp|P10275-2|ANDR_HUMAN Isoform 2 of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 CANONICAL=P10275-1" }, "locus": {} }, { "isoform_ac": "P10275-3", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGEKFRVGNCKHLKMTRP", "length": 644, "header": "sp|P10275-3|ANDR_HUMAN Isoform 3 of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 CANONICAL=P10275-1" }, "locus": { "chromosome": "X", "start_pos": 67694719, "end_pos": 67545147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504326.5", "url": "https://www.ensembl.org/id/ENST00000504326.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421155.1", "url": "https://www.ensembl.org/id/ENSP00000421155.1" } ] } }, { "isoform_ac": "P10275-4", "url": "", "sequence": { "sequence": "MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGAAVVVSERILRVFGVSEWLP", "length": 648, "header": "sp|P10275-4|ANDR_HUMAN Isoform 4 of Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 CANONICAL=P10275-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P10275", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10275" }, { "id": "38214432", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38214432" } ] } ], "phosphorylation": [ { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "12015328", "url": "https://glygen.org/publication/PubMed/12015328" }, { "database": "phospho.ELM", "id": "P10275", "url": "http://phospho.elm.eu.org/byAccession/P10275.html" } ], "site_lbl": "Ser16" }, { "start_pos": 208, "end_pos": 208, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "11404460", "url": "https://glygen.org/publication/PubMed/11404460" } ], "site_lbl": "Ser208" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "11156376", "url": "https://glygen.org/publication/PubMed/11156376" }, { "database": "PubMed", "id": "11404460", "url": "https://glygen.org/publication/PubMed/11404460" }, { "database": "PubMed", "id": "17470458", "url": "https://glygen.org/publication/PubMed/17470458" } ], "site_lbl": "Ser215" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "P16591-1", "kinase_gene_name": "FER", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "23906537", "url": "https://glygen.org/publication/PubMed/23906537" } ], "site_lbl": "Tyr225" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr225" }, { "start_pos": 258, "end_pos": 258, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "12015328", "url": "https://glygen.org/publication/PubMed/12015328" } ], "site_lbl": "Ser258" }, { "start_pos": 269, "end_pos": 269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK and TNK2", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://glygen.org/publication/PubMed/17494760" }, { "database": "PubMed", "id": "20623637", "url": "https://glygen.org/publication/PubMed/20623637" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr269" }, { "start_pos": 282, "end_pos": 282, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "20713353", "url": "https://glygen.org/publication/PubMed/20713353" } ], "site_lbl": "Thr282" }, { "start_pos": 293, "end_pos": 293, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "20713353", "url": "https://glygen.org/publication/PubMed/20713353" } ], "site_lbl": "Ser293" }, { "start_pos": 302, "end_pos": 302, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "12015328", "url": "https://glygen.org/publication/PubMed/12015328" } ], "site_lbl": "Ser302" }, { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr309" }, { "start_pos": 310, "end_pos": 310, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "11396978", "url": "https://glygen.org/publication/PubMed/11396978" } ], "site_lbl": "Ser310" }, { "start_pos": 348, "end_pos": 348, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr348" }, { "start_pos": 359, "end_pos": 359, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr359" }, { "start_pos": 364, "end_pos": 364, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17045208", "url": "https://glygen.org/publication/PubMed/17045208" } ], "site_lbl": "Tyr364" }, { "start_pos": 365, "end_pos": 365, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK 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androgen receptor coactivator, ARA55, in human prostate.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Fujimoto N, Yeh S, Kang HY, Inui S, Chang HC, Mizokami A, Chang C", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10075738", "url": "https://glygen.org/publication/PubMed/10075738" } ] }, { "title": "Screening for mutations in candidate genes for hypospadias.", "journal": "Urological research", "date": "1999", "authors": "Nordenskjold A, Friedman E, Tapper-Persson M, Soderhall C, Leviav A, Svensson J, Anvret M", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10092153", "url": "https://glygen.org/publication/PubMed/10092153" } ] }, { "title": "Androgen receptor gene mutations in 46,XY females with germ cell tumours.", "journal": "Human reproduction (Oxford, England)", "date": "1999", "authors": "Chen CP, Chern SR, Wang TY, Wang W, Wang KL, Jeng CJ", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10221692", "url": "https://glygen.org/publication/PubMed/10221692" } ] }, { "title": "An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.", "journal": "Molecular and cellular endocrinology", "date": "1999", "authors": "Peters I, Weidemann W, Romalo G, Knorr D, Schweikert HU, Spindler KD", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10221770", "url": "https://glygen.org/publication/PubMed/10221770" } ] }, { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "From HER2/Neu signal cascade to androgen receptor and its coactivators: a novel pathway by induction of androgen target genes through MAP kinase in prostate cancer cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Yeh S, Lin HK, Kang HY, Thin TH, Lin MF, Chang C", "evidence": [ { "database": "iPTMnet", "id": "P10275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275-1" } ], "reference": [ { "type": "PubMed", "id": "10318905", "url": "https://glygen.org/publication/PubMed/10318905" } ] }, { "title": "PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10332029", "url": "https://glygen.org/publication/PubMed/10332029" } ] }, { "title": "Selection for androgen receptor mutations in prostate cancers treated with androgen antagonist.", "journal": "Cancer research", "date": "1999", "authors": "Taplin ME, Bubley GJ, Ko YJ, Small EJ, Upton M, Rajeshkumar B, Balk SP", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10363963", "url": "https://glygen.org/publication/PubMed/10363963" } ] }, { "title": "Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Poukka H, Aarnisalo P, Karvonen U, Palvimo J J, J\u00e4nne O A", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10383460", "url": "https://glygen.org/publication/PubMed/10383460" } ] }, { "title": "The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Hsiao P W, Lin D L, Nakao R, Chang C", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10400640", "url": "https://glygen.org/publication/PubMed/10400640" } ] }, { "title": "A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation.", "journal": "International journal of urology : official journal of the Japanese Urological Association", "date": "1999", "authors": "Kanayama H, Naroda T, Inoue Y, Kurokawa Y, Kagawa S", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10404311", "url": "https://glygen.org/publication/PubMed/10404311" } ] }, { "title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.", "journal": "Genomics", "date": "1999", "authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10444327", "url": "https://glygen.org/publication/PubMed/10444327" } ] }, { "title": "Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.", "journal": "The Tohoku journal of experimental medicine", "date": "1999", "authors": "Yaegashi N, Uehara S, Senoo M, Sato J, Fujiwara J, Funato T, Sasaki T, Yajima A", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10458483", "url": "https://glygen.org/publication/PubMed/10458483" } ] }, { "title": "A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.", "journal": "Andrologia", "date": "1999", "authors": "Knoke I, Jakubiczka S, Lehnert H, Wieacker P", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10470409", "url": "https://glygen.org/publication/PubMed/10470409" } ] }, { "title": "A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.", "journal": "Human mutation", "date": "1999", "authors": "Melo KF, Latronico AC, Costa EM, Billerbeck AE, Mendonca BB, Arnhold IJ", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10502786", "url": "https://glygen.org/publication/PubMed/10502786" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.", "journal": "Lancet (London, England)", "date": "1999", "authors": "Ong YC, Wong HB, Adaikan G, Yong EL", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10543676", "url": "https://glygen.org/publication/PubMed/10543676" } ] }, { "title": "Two mutations identified in the androgen receptor of the new human prostate cancer cell line MDA PCa 2a.", "journal": "The Journal of urology", "date": "1999", "authors": "Zhao XY, Boyle B, Krishnan AV, Navone NM, Peehl DM, Feldman D", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10569618", "url": "https://glygen.org/publication/PubMed/10569618" } ] }, { "title": "Analysis of exon 1 mutations in the androgen receptor gene.", "journal": "Human mutation", "date": "1999", "authors": "Gottlieb B, Vasiliou DM, Lumbroso R, Beitel LK, Pinsky L, Trifiro MA", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10571951", "url": "https://glygen.org/publication/PubMed/10571951" } ] }, { "title": "Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.", "journal": "Pediatric research", "date": "1999", "authors": "Holterhus PM, Wiebel J, Sinnecker GH, Bruggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10590024", "url": "https://glygen.org/publication/PubMed/10590024" } ] }, { "title": "A C619Y mutation in the human androgen receptor causes inactivation and mislocalization of the receptor with concomitant sequestration of SRC-1 (steroid receptor coactivator 1)", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1999", "authors": "Nazareth LV, Stenoien DL, Bingman WE 3rd, James AJ, Wu C, Zhang Y, Edwards DP, Mancini M, Marcelli M, Lamb DJ, Weigel NL", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprot/P10275" } ], "reference": [ { "type": "PubMed", "id": "10598582", "url": "https://glygen.org/publication/PubMed/10598582" } ] }, { "title": "PDEF, a novel prostate epithelium-specific ets transcription factor, interacts with the androgen receptor and activates prostate-specific antigen gene expression.", "journal": "J. 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