{ "uniprot_canonical_ac": "P01241-1", "uniprot_ac": "P01241", "uniprot_id": "SOMA_HUMAN", "mass": { "chemical_mass": 24847.0, "monoisotopic_mass": 24847.0 }, "refseq": { "ac": "NP_000506", "name": "somatotropin isoform 1 precursor", "summary": "The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, "gene_names": [ { "name": "CSH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01241", "id": "P01241" }, { "name": "CSH2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01241", "id": "P01241" }, { "name": "GH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01241", "id": "P01241" }, { "name": "CSH2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01241", "id": "P01241" }, { "name": "GH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506", "id": "NP_000506" }, { "name": "GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B; IGHD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506", "id": "NP_000506" }, { "name": "hCG_1749481", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01241", "id": "P01241" } ], "protein_names": [ { "name": "Somatotropin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01241" }, { "name": "GH-N", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01241" }, { "name": "GH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01241" }, { "name": "Growth hormone 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01241" }, { "name": "Growth hormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01241" }, { "name": "Pituitary growth hormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01241" }, { "name": "pituitary growth hormone; somatotropin; growth hormone B5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506", "id": "NP_000506" }, { "name": "somatotropin isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506", "id": "NP_000506" } ], "function": [ { "annotation": "Autocrine/paracrine growth hormone in cancer progression. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, { "database": "PubMed", "id": "37877767", "url": "https://glygen.org/publication/PubMed/37877767" } ] }, { "annotation": "Effect of mitochondrial quantity and quality controls in white adipose tissue on healthy lifespan: Essential roles of GH/IGF-1-independent pathways in caloric restriction-mediated metabolic remodeling. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, { "database": "PubMed", "id": "37606202", "url": "https://glygen.org/publication/PubMed/37606202" } ] }, { "annotation": "Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, { "database": "PubMed", "id": "37595266", "url": "https://glygen.org/publication/PubMed/37595266" } ] }, { "annotation": "Involvement of Sirtuin 1 in the Growth Hormone/Insulin-like Growth Factor 1 Signal Transduction and Its Impact on Growth Processes in Children. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, { "database": "PubMed", "id": "37895086", "url": "https://glygen.org/publication/PubMed/37895086" } ] }, { "annotation": "Low growth hormone secretion associated with post-acute sequelae SARS-CoV-2 infection (PASC) neurologic symptoms: A case-control pilot study.", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" }, { "database": "PubMed", "id": "37816478", "url": "https://glygen.org/publication/PubMed/37816478" } ] }, { "annotation": "Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.", "evidence": [ { "database": "UniProtKB", "id": "B1A4G9", "url": "https://www.uniprot.org/uniprot/B1A4G9#function" }, { "database": "UniProtKB", "id": "ARBA00025313", "url": "https://www.uniprot.org/uniprot/ARBA00025313#function" }, { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241#function" } ] }, { "annotation": "The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506" } ] } ], "disease": [ { "disease_id": "DOID:0060872", "recommended_name": { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "isolated growth hormone deficiency type II", "description": "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3." }, "synonyms": [ { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "IGHD II", "description": "" }, { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "congenital IGHD type II", "description": "" }, { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "congenital isolated GH deficiency type II", "description": "" }, { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "congenital isolated growth hormone deficiency type II", "description": "" }, { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "autosomal dominant isolated growth hormone deficiency", "description": "" }, { "id": "DOID:0060872", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060872", "name": "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "isolated growth hormone deficiency type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "IGHD II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "autosomal dominant isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "congenital IGHD type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "congenital isolated GH deficiency type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "congenital isolated growth hormone deficiency type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "growth hormone deficiency, isolated, type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "Growth hormone deficiency, isolated autosomal dominant", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "Growth hormone deficiency, isolated, autosomal dominant", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "IGHD 2", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "IGHD2", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "isolated Growth hormone deficiency, type 2", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "isolated growth hormone deficiency type 2", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "isolated growth hormone deficiency, type II", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant", "description": "" }, { "id": "MONDO:0008250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008250", "name": "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant", "description": "" }, { "id": "MIM:173100", "resource": "MIM", "url": "https://www.omim.org/entry/173100", "name": "Growth hormone deficiency, isolated, 2", "description": "Growth hormone deficiency, isolated, 2" } ], "evidence": [ { "id": "173100", "database": "MIM", "url": "https://www.omim.org/entry/173100" } ] }, { "disease_id": "DOID:0060873", "recommended_name": { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "isolated growth hormone deficiency type IA", "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3." }, "synonyms": [ { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "IGHD IA", "description": "" }, { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "Illig-type growth hormone deficiency", "description": "" }, { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "pituitary dwarfism I", "description": "" }, { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "primordial dwarfism", "description": "" }, { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "sexual ateleiotic dwarfism", "description": "" }, { "id": "DOID:0060873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060873", "name": "autosomal recessive isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "isolated growth hormone deficiency type IA", "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "IGHD IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "Illig-type growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "autosomal recessive isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital IGHD type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital isolated GH deficiency type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital isolated growth hormone deficiency type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "growth hormone deficiency, isolated, type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "isolated growth hormone deficiency type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "pituitary dwarfism I", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "primordial dwarfism", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "sexual ateleiotic dwarfism", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "Growth hormone deficiency, isolated autosomal recessive", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "Growth hormone deficiency, isolated, autosomal recessive", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "IGHD 1A", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "IGHD1A", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "ILLIG type growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "Illig-type Growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital IGHD", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital isolated GH deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "congenital isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "isolated Growth hormone deficiency, type 1A", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "isolated growth hormone deficiency type 1A", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "isolated growth hormone deficiency, type IA", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "non-acquired isolated growth hormone deficiency", "description": "" }, { "id": "MONDO:0009876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009876", "name": "pituitary dwarfism 1", "description": "" }, { "id": "MIM:262400", "resource": "MIM", "url": "https://www.omim.org/entry/262400", "name": "Growth hormone deficiency, isolated, 1A", "description": "Growth hormone deficiency, isolated, 1A" } ], "evidence": [ { "id": "262400", "database": "MIM", "url": "https://www.omim.org/entry/262400" } ] }, { "disease_id": "DOID:0060874", "recommended_name": { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "isolated growth hormone deficiency type IB", "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." }, "synonyms": [ { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "IGHD IB", "description": "" }, { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "congenital IGHD type IB", "description": "" }, { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "congenital isolated GH deficiency type IB", "description": "" }, { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "dwarfism of Sindh", "description": "" }, { "id": "DOID:0060874", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060874", "name": "congenital isolated growth hormone deficiency type IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "isolated growth hormone deficiency type IB", "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "IGHD IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "congenital IGHD type IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "congenital isolated GH deficiency type IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "congenital isolated growth hormone deficiency type IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "dwarfism of Sindh", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "growth hormone deficiency, isolated, type IB", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "IGHD 1B", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "IGHD1B", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "isolated Growth hormone deficiency, type 1B", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "isolated growth hormone deficiency type 1B", "description": "" }, { "id": "MONDO:0013006", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013006", "name": "isolated growth hormone deficiency, type IB", "description": "" }, { "id": "MIM:612781", "resource": "MIM", "url": "https://www.omim.org/entry/612781", "name": "Growth hormone deficiency, isolated, 1B", "description": "Growth hormone deficiency, isolated, 1B" } ], "evidence": [ { "id": "612781", "database": "MIM", "url": "https://www.omim.org/entry/612781" } ] }, { "disease_id": "MONDO:0009879", "recommended_name": { "id": "MONDO:0009879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009879", "name": "short stature due to growth hormone qualitative anomaly", "description": "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." }, "synonyms": [ { "id": "MONDO:0009879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009879", "name": "Kowarski syndrome", "description": "" }, { "id": "MONDO:0009879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009879", "name": "Biodefective Growth hormone", "description": "" }, { "id": "MONDO:0009879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009879", "name": "KOWARSKI syndrome", "description": "" }, { "id": "MONDO:0009879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009879", "name": "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin", "description": "" }, { "id": "MIM:262650", "resource": "MIM", "url": "https://www.omim.org/entry/262650", "name": "Kowarski syndrome", "description": "Kowarski syndrome" } ], "evidence": [ { "id": "262650", "database": "MIM", "url": "https://www.omim.org/entry/262650" } ] } ], "snv": [ { "evidence": [ { "id": "P01241", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01241" } ], "glycoeffect": [], "start_pos": 181, "end_pos": 181, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "63917422", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A181", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P01241", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01241" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "63917338", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R209", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the 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"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", 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Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Growth hormone heterogeneity in human pituitary and plasma.", "journal": "Horm. Res. 51 Suppl.", "date": "1999", "authors": "Baumann G", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "10393484", "url": "https://glygen.org/publication/PubMed/10393484" } ] }, { "title": "Ghrelin is a growth-hormone-releasing acylated peptide from stomach.", "journal": "Nature", "date": "1999", "authors": "Kojima M, Hosoda H, Date Y, Nakazato M, Matsuo H, Kangawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "10604470", "url": "https://glygen.org/publication/PubMed/10604470" } ] }, { "title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Hu R M, Han Z G, Song H D, Peng Y D, Huang Q H, Ren S X, Gu Y J, Huang C H, Li Y B, Jiang C L, Fu G, Zhang Q H, Gu B W, Dai M, Mao Y F, Gao G F, Rong R, Ye M, Zhou J, Xu S H, Gu J, Shi J X, Jin W R, Zhang C K, Wu T M, Huang G Y, Chen Z, Chen M D, Chen J L", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "10931946", "url": "https://glygen.org/publication/PubMed/10931946" } ] }, { "title": "Ghrelin, a novel growth hormone-releasing acylated peptide, is synthesized in a distinct endocrine cell type in the gastrointestinal tracts of rats and humans.", "journal": "Endocrinology", "date": "2000", "authors": "Date Y, Kojima M, Hosoda H, Sawaguchi A, Mondal MS, Suganuma T, Matsukura S, Kangawa K, Nakazato M", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "11089560", "url": "https://glygen.org/publication/PubMed/11089560" } ] }, { "title": "Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Deladoey J, Stocker P, Mullis PE", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "11502836", "url": "https://glygen.org/publication/PubMed/11502836" } ] }, { "title": "Stomach is a major source of circulating ghrelin, and feeding state determines plasma ghrelin-like immunoreactivity levels in humans.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Ariyasu H, Takaya K, Tagami T, Ogawa Y, Hosoda K, Akamizu T, Suda M, Koh T, Natsui K, Toyooka S, Shirakami G, Usui T, Shimatsu A, Doi K, Hosoda H, Kojima M, Kangawa K, Nakao K", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "11600536", "url": "https://glygen.org/publication/PubMed/11600536" } ] }, { "title": "Ghrelin is present in pancreatic alpha-cells of humans and rats and stimulates insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "Date Y, Nakazato M, Hashiguchi S, Dezaki K, Mondal MS, Hosoda H, Kojima M, Kangawa K, Arima T, Matsuo H, Yada T, Matsukura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "11756331", "url": "https://glygen.org/publication/PubMed/11756331" } ] }, { "title": "The tissue distribution of the mRNA of ghrelin and subtypes of its receptor, GHS-R, in humans.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Gnanapavan S, Kola B, Bustin SA, Morris DG, McGee P, Fairclough P, Bhattacharya S, Carpenter R, Grossman AB, Korbonits M", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "12050285", "url": "https://glygen.org/publication/PubMed/12050285" } ] }, { "title": "Ghrelin immunoreactivity in human plasma is suppressed by somatostatin.", "journal": "Clinical endocrinology", "date": "2002", "authors": "Norrelund H, Hansen TK, Orskov H, Hosoda H, Kojima M, Kangawa K, Weeke J, Moller N, Christiansen JS, Jorgensen JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "12354137", "url": "https://glygen.org/publication/PubMed/12354137" } ] }, { "title": "Structural divergence of human ghrelin. Identification of multiple ghrelin-derived molecules produced by post-translational processing.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hosoda H, Kojima M, Mizushima T, Shimizu S, Kangawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "12414809", "url": "https://glygen.org/publication/PubMed/12414809" } ] }, { "title": "Euglycemic hyperinsulinemia, but not lipid infusion, decreases circulating ghrelin levels in humans.", "journal": "Journal of endocrinological investigation", "date": "2002", "authors": "Mohlig M, Spranger J, Otto B, Ristow M, Tschop M, Pfeiffer AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "12553549", "url": "https://glygen.org/publication/PubMed/12553549" } ] }, { "title": "Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.", "journal": "Human mutation", "date": "2003", "authors": "Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "12655557", "url": "https://glygen.org/publication/PubMed/12655557" } ] }, { "title": "Identification of protein tyrosine phosphatases with specificity for the ligand-activated growth hormone receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Pasquali C, Curchod ML, Walchli S, Espanel X, Guerrier M, Arigoni F, Strous G, Hooft van Huijsduijnen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "12907755", "url": "https://glygen.org/publication/PubMed/12907755" } ] }, { "title": "Differential effect of protein and fat on plasma ghrelin levels in man.", "journal": "Regulatory peptides", "date": "2003", "authors": "Erdmann J, Lippl F, Schusdziarra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "14599721", "url": "https://glygen.org/publication/PubMed/14599721" } ] }, { "title": "Identification and characterization of phosphorylated proteins in the human pituitary.", "journal": "Proteomics", "date": "2004", "authors": "Giorgianni F, Beranova-Giorgianni S, Desiderio DM", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" }, { "database": "iPTMnet", "id": 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SCF(beta-TrCP) E3 ubiquitin ligase.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Li Y, Kumar KG, Tang W, Spiegelman VS, Fuchs SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "15082796", "url": "https://glygen.org/publication/PubMed/15082796" } ] }, { "title": "Acetylcholine regulates ghrelin secretion in humans.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Broglio F, Gottero C, Van Koetsveld P, Prodam F, Destefanis S, Benso A, Gauna C, Hofland L, Arvat E, van der Lely AJ, Ghigo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "15126574", "url": "https://glygen.org/publication/PubMed/15126574" } ] }, { "title": "Genomic structure and characterization of the 5'-flanking region of the human ghrelin gene.", "journal": "Endocrinology", "date": "2004", "authors": "Kanamoto N, Akamizu T, Tagami T, Hataya Y, Moriyama K, Takaya K, Hosoda H, Kojima M, Kangawa K, Nakao K", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "15142980", "url": "https://glygen.org/publication/PubMed/15142980" } ] }, { "title": "Ghrelin degradation by serum and tissue homogenates: identification of the cleavage sites.", "journal": "Endocrinology", "date": "2004", "authors": "De Vriese C, Gregoire F, Lema-Kisoka R, Waelbroeck M, Robberecht P, Delporte C", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "15256494", "url": "https://glygen.org/publication/PubMed/15256494" } ] }, { "title": "Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.", "journal": "Science", "date": "1992", "authors": "de Vos AM, Ultsch M, Kossiakoff AA", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" }, { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "1549776", "url": "https://glygen.org/publication/PubMed/1549776" } ] }, { "title": "Characterization and regulation of the rat and human ghrelin promoters.", "journal": "Endocrinology", "date": "2005", "authors": "Wei W, Wang G, Qi X, Englander EW, Greeley GH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-422085", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422085" } ], "reference": [ { "type": "PubMed", "id": "15604212", "url": "https://glygen.org/publication/PubMed/15604212" } ] }, { "title": "Short stature caused by a biologically inactive mutant growth 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"2005", "authors": "Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee J, Shoelson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "title": "Crystal structure and site 1 binding energetics of human placental lactogen.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Walsh ST, Kossiakoff AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "16546209", "url": "https://glygen.org/publication/PubMed/16546209" } ] }, { "title": "Phosphoproteomic analysis of the human pituitary.", "journal": "Pituitary", "date": "2006", "authors": "Beranova-Giorgianni S, Zhao Y, Desiderio DM, Giorgianni F", "evidence": [ { "database": 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Chem.", "date": "1981", "authors": "Chapman G E, Rogers K M, Brittain T, Bradshaw R A, Bates O J, Turner C, Cary P D, Crane-Robinson C", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "7462247", "url": "https://glygen.org/publication/PubMed/7462247" } ] }, { "title": "Human growth hormone (GH) receptor is characterized as the 134-kilodalton tyrosine-phosphorylated protein activated by GH treatment in IM-9 cells.", "journal": "Endocrinology", "date": "1993", "authors": "Silva CM, Day RN, Weber MJ, Thorner MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "7691587", "url": "https://glygen.org/publication/PubMed/7691587" } ] }, { "title": "The X-ray structure of a growth hormone-prolactin receptor complex.", "journal": "Nature", "date": "1994", "authors": "Somers W, Ultsch M, De Vos A M, Kossiakoff A A", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "7984244", "url": "https://glygen.org/publication/PubMed/7984244" } ] }, { "title": "Prolactin-induced proliferation of Nb2 cells involves tyrosine phosphorylation of the prolactin receptor and its associated tyrosine kinase JAK2.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Lebrun JJ, Ali S, Sofer L, Ullrich A, Kelly PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "8188682", "url": "https://glygen.org/publication/PubMed/8188682" } ] }, { "title": "Identification of JAK2 as a growth hormone receptor-associated tyrosine kinase.", "journal": "Cell", "date": "1993", "authors": "Argetsinger LS, Campbell GS, Yang X, Witthuhn BA, Silvennoinen O, Ihle JN, Carter-Su C", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "8343952", "url": "https://glygen.org/publication/PubMed/8343952" } ] }, { "title": "A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.", "journal": "Hum. Mol. Genet.", "date": "1993", "authors": "Igarashi Y, Ogawa M, Kamijo T, Iwatani N, Nishi Y, Kohno H, Masumura T, Koga J", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "8364549", "url": "https://glygen.org/publication/PubMed/8364549" } ] }, { "title": "Brief report: short stature caused by a mutant growth hormone.", "journal": "The New England journal of medicine", "date": "1996", "authors": "Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K", "evidence": [ { "database": "UniProtKB", "id": "P01241", "url": "https://www.uniprot.org/uniprot/P01241" } ], "reference": [ { "type": "PubMed", "id": "8552145", "url": "https://glygen.org/publication/PubMed/8552145" } ] }, { "title": "Crystal structure of an antagonist mutant of human growth hormone, G120R, in complex with its receptor at 2.9-A resolution.", "journal": "J. Biol. 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