{ "uniprot_canonical_ac": "O75360-1", "uniprot_ac": "O75360", "uniprot_id": "PROP1_HUMAN", "mass": { "chemical_mass": 24984.0, "monoisotopic_mass": 24984.0 }, "refseq": { "ac": "NP_006252", "name": "homeobox protein prophet of Pit-1", "summary": "This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" }, "gene_names": [ { "name": "PROP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75360", "id": "O75360" }, { "name": "CPHD2; PROP-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252", "id": "NP_006252" }, { "name": "PROP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252", "id": "NP_006252" }, { "name": "hCG_40268", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75360", "id": "O75360" } ], "protein_names": [ { "name": "Homeobox protein prophet of Pit-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75360" }, { "name": "PROP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75360" }, { "name": "Pituitary-specific homeodomain factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75360" }, { "name": "homeobox protein prophet of Pit-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252", "id": "NP_006252" }, { "name": "prophet of Pit1, paired-like homeodomain transcription factor; pituitary-specific homeodomain factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252", "id": "NP_006252" } ], "function": [ { "annotation": "A summary of phenotypes in patients with combined pituitary hormone deficiency caused by PROP1 mutations (Review). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" }, { "database": "PubMed", "id": "31090814", "url": "https://glygen.org/publication/PubMed/31090814" } ] }, { "annotation": "Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" }, { "database": "PubMed", "id": "36984475", "url": "https://glygen.org/publication/PubMed/36984475" } ] }, { "annotation": "Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" }, { "database": "PubMed", "id": "31948187", "url": "https://glygen.org/publication/PubMed/31948187" } ] }, { "annotation": "Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JRP7", "url": "https://www.uniprot.org/uniprot/A0A0G2JRP7#function" }, { "database": "UniProtKB", "id": "ARBA00002030", "url": "https://www.uniprot.org/uniprot/ARBA00002030#function" }, { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360#function" }, { "database": "UniProtKB", "id": "A0A0G2JQ02", "url": "https://www.uniprot.org/uniprot/A0A0G2JQ02#function" } ] }, { "annotation": "This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" } ] } ], "disease": [ { "disease_id": "DOID:9406", "recommended_name": { "id": "DOID:9406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland." }, "synonyms": [ { "id": "DOID:9406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9406", "name": "Pituitary insufficiency", "description": "" }, { "id": "DOID:9406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9406", "name": "pituitary hormone deficiency", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities", "description": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "pituitary hormone deficiency, combined, type 3", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "CPHD3", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "Deafness, sensorineural with pituitary dwarfism", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "Pituitary hormone deficiency, combined with rigid cervical spine", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "Winkelmann-Bethge-Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "deafness, sensorineural, with pituitary dwarfism", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "pituitary hormone deficiency, combined, 3", "description": "" }, { "id": "MONDO:0009091", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009091", "name": "pituitary hormone deficiency, combined, with rigid cervical spine", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome", "description": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "pituitary hormone deficiency, combined, type 4", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "CPHD4", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "pituitary hormone deficiency, combined 4", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "pituitary hormone deficiency, combined with or without cerebellar defects", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "pituitary hormone deficiency, combined, 4", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "pituitary hormone deficiency, combined, with or without cerebellar defects", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "short stature, pituitary and cerebellar defects and small sella turcica", "description": "" }, { "id": "MONDO:0009880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009880", "name": "short stature, pituitary and cerebellar defects, and small sella turcica", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "pituitary hormone deficiency, combined, 1", "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "CPHD1", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "POU1F1 combined pituitary hormone deficiencies, genetic form", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "pituitary hormone deficiency, combined or isolated, 1", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "pituitary hormone deficiency, combined, 1", "description": "" }, { "id": "MONDO:0024464", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024464", "name": "pituitary hormone deficiency, combined 1", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "pituitary hormone deficiency, combined, 2", "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "PROP1 combined pituitary hormone deficiencies, genetic form", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "pituitary hormone deficiency, combined, 2", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "pituitary hormone deficiency, combined, type 2", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "CPHD2", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "Hanhart dwarfism", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "ateliotic dwarfism with hypogonadism", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "panhypopituitarism", "description": "" }, { "id": "MONDO:0009878", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009878", "name": "pituitary dwarfism 3", "description": "" }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "pituitary hormone deficiency, combined, 6", "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "OTX2 combined pituitary hormone deficiencies, genetic form", "description": "" }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2", "description": "" }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "pituitary hormone deficiency, combined, 6", "description": "" }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "pituitary hormone deficiency, combined, type 6", "description": "" }, { "id": "MONDO:0013518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013518", "name": "CPHD6", "description": "" }, { "id": "MIM:221750", "resource": "MIM", "url": "https://www.omim.org/entry/221750", "name": "Pituitary hormone deficiency, combined, 3", "description": "Pituitary hormone deficiency, combined, 3" }, { "id": "MIM:262700", "resource": "MIM", "url": "https://www.omim.org/entry/262700", "name": "Pituitary hormone deficiency, combined, 4", "description": "Pituitary hormone deficiency, combined, 4" }, { "id": "MIM:613038", "resource": "MIM", "url": "https://www.omim.org/entry/613038", "name": "Pituitary hormone deficiency, combined, 1", "description": "Pituitary hormone deficiency, combined, 1" }, { "id": "MIM:262600", "resource": "MIM", "url": "https://www.omim.org/entry/262600", "name": "Pituitary hormone deficiency, combined, 2", "description": "Pituitary hormone deficiency, combined, 2" }, { "id": "MIM:613986", "resource": "MIM", "url": "https://www.omim.org/entry/613986", "name": "Pituitary hormone deficiency, combined, 6", "description": "Pituitary hormone deficiency, combined, 6" } ], "evidence": [ { "id": "262600", "database": "MIM", "url": "https://www.omim.org/entry/262600" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "45.11", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "24.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "30.31", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "37.12", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "17.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000175325", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175325" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75360", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75360" } ], "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 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" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75360", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75360" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75360", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75360" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75360", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75360" } ], "disease": [ { "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": 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"MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN", "length": 226, "header": "sp|O75360-1|PROP1_HUMAN Isoform 1 of Homeobox protein prophet of Pit-1 OS=Homo sapiens OX=9606 GN=PROP1 PE=1 SV=2 CANONICAL=O75360-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JQ02-1", "url": "", "sequence": { "sequence": "MEAERRRQAEKPKKGRVGSSLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN", "length": 226, "header": "tr|A0A0G2JQ02-1|A0A0G2JQ02_HUMAN Computationally mapped isoform of Homeobox protein prophet of Pit-1 OS=Homo sapiens OX=9606 GN=PROP1 PE=4 SV=1 CANONICAL=O75360-1" }, "locus": { "chromosome": "HSCHR5_3_CTG5", "start_pos": 130779, "end_pos": 127558, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614006.2", "url": "https://www.ensembl.org/id/ENST00000614006.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000484677.1", "url": "https://www.ensembl.org/id/ENSP00000484677.1" } ] } }, { "isoform_ac": "A0A0G2JRP7-1", "url": "", "sequence": { "sequence": "VWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN", "length": 112, "header": "tr|A0A0G2JRP7-1|PROP1_HUMAN Computationally mapped isoform of Homeobox protein prophet of Pit-1 OS=Homo sapiens OX=9606 GN=PROP1 PE=1 SV=1 CANONICAL=O75360-1" }, "locus": { "chromosome": "HSCHR5_2_CTG5", "start_pos": 131530, "end_pos": 131195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629850.1", "url": "https://www.ensembl.org/id/ENST00000629850.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486962.1", "url": "https://www.ensembl.org/id/ENSP00000486962.1" } ] } }, { "isoform_ac": "O75360-1", "url": "", "sequence": { "sequence": "MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN", "length": 226, "header": "sp|O75360-1|PROP1_HUMAN Isoform 1 of Homeobox protein prophet of Pit-1 OS=Homo sapiens OX=9606 GN=PROP1 PE=1 SV=2 CANONICAL=O75360-1" }, "locus": { "chromosome": "5", "start_pos": 177995933, "end_pos": 177992712, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000308304.2", "url": "https://www.ensembl.org/id/ENST00000308304.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000311290.2", "url": "https://www.ensembl.org/id/ENSP00000311290.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Osorio MG, Kopp P, Marui S, Latronico AC, Mendonca BB, Arnhold IJ", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "10946881", "url": "https://glygen.org/publication/PubMed/10946881" } ] }, { "title": "PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "11549703", "url": "https://glygen.org/publication/PubMed/11549703" } ] }, { "title": "Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Vieira TC, Dias da Silva MR, Cerutti JM, Brunner E, Borges M, Arnaldi LT, Kopp P, Abucham J", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "12519826", "url": "https://glygen.org/publication/PubMed/12519826" } ] }, { "title": "A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Reynaud R, Chadli-Chaieb M, Vallette-Kasic S, Barlier A, Sarles J, Pellegrini-Bouiller I, Enjalbert A, Chaieb L, Brue T", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "15531542", "url": "https://glygen.org/publication/PubMed/15531542" } ] }, { "title": "Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).", "journal": "Clinical endocrinology", "date": "2009", "authors": "Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "19128366", "url": "https://glygen.org/publication/PubMed/19128366" } ] }, { "title": "Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.", "journal": "Archives of endocrinology and metabolism", "date": "2019", "authors": "Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrao MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonca BB", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" } ], "reference": [ { "type": "PubMed", "id": "31090814", "url": "https://glygen.org/publication/PubMed/31090814" } ] }, { "title": "Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency", "journal": "Journal of clinical research in pediatric endocrinology", "date": "2020", "authors": "Bulut FD, Ozdemir Dilek S, Kotan D, Mengen E, Gurbuz F, Yuksel B", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" } ], "reference": [ { "type": "PubMed", "id": "31948187", "url": "https://glygen.org/publication/PubMed/31948187" } ] }, { "title": "Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.", "journal": "Medicina (Kaunas, Lithuania)", "date": "2023-02-27", "authors": "Almatrafi Ahmed M, Hibshi Ali M, Basit Sulman", "evidence": [ { "database": "RefSeq", "id": "NP_006252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006252" } ], "reference": [ { "type": "PubMed", "id": "36984475", "url": "https://glygen.org/publication/PubMed/36984475" } ] }, { "title": "Mutations in PROP1 cause familial combined pituitary hormone deficiency.", "journal": "Nature genetics", "date": "1998", "authors": "Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "9462743", "url": "https://glygen.org/publication/PubMed/9462743" } ] }, { "title": "Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Fluck C, Deladoey J, Rutishauser K, Eble A, Marti U, Wu W, Mullis PE", "evidence": [ { "database": "UniProtKB", "id": "O75360", "url": "https://www.uniprot.org/uniprot/O75360" } ], "reference": [ { "type": "PubMed", "id": "9768691", "url": "https://glygen.org/publication/PubMed/9768691" } ] }, { "title": "Human Prop-1: cloning, mapping, genomic structure. 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