{ "uniprot_canonical_ac": "P18502-1", "uniprot_ac": "P18502", "uniprot_id": "PTC_DROME", "mass": { "chemical_mass": 142831.0, "monoisotopic_mass": 142831.0 }, "refseq": { "ac": "NP_523661", "name": "patched", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661" }, "gene_names": [ { "name": "ptc", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P18502", "id": "P18502" }, { "name": "BcDNA:RH36596; CG2411; com4; Conf; Dmel\\CG2411; dPtc; l(2)k02507; pat; Patched; Ptc; PTC; ptch; Ptch; Ptc_Dm; rubr; tuf", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661", "id": "NP_523661" }, { "name": "CG2411", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P18502", "id": "P18502" }, { "name": "ptc", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661", "id": "NP_523661" } ], "protein_names": [ { "name": "Protein patched", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P18502" }, { "name": "CG2411-PA; ptc-PA; confused; tufted; rubberneck; patch; compaction defects 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661", "id": "NP_523661" }, { "name": "Hedgehog receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P18502" }, { "name": "patched", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661", "id": "NP_523661" } ], "function": [ { "annotation": "Segmentation polarity protein. Acts as a receptor for the hedgehog protein (HH). Associates with the smoothened protein (SMO) to transduce the hedgehog signal leading to the activation of wingless, decapentaplegic and patched itself. Participates in cell interactions that establish pattern within the segment and the imaginal disks during development. In the absence of HH, represses the constitutive signaling activity of smo through fused (FU).", "evidence": [ { "database": "UniProtKB", "id": "P18502", "url": "https://www.uniprot.org/uniprot/P18502#function" } ] } ], "disease": [ { "disease_id": "DOID:0050860", "recommended_name": { "id": "DOID:0050860", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum." }, "synonyms": [], "evidence": [ { "id": "0050860", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "evidence": [ { "id": "0050902", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "disease_id": "DOID:0070365", "recommended_name": { "id": "DOID:0070365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070365", "name": "nevoid basal cell carcinoma syndrome 1", "description": "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0070365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070365", "name": "basal cell nevus syndrome 1", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin-Goltz syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "NBCCS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "basal cell nevus syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell carcinomas", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell cancer syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "BCNS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies", "description": "" }, { "id": "MIM:109400", "resource": "MIM", "url": "https://www.omim.org/entry/109400", "name": "Basal cell nevus syndrome 1", "description": "Basal cell nevus syndrome 1" } ], "evidence": [ { "id": "0070365", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070365" } ] }, { "disease_id": "DOID:0080016", "recommended_name": { "id": "DOID:0080016", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development." }, "synonyms": [], "evidence": [ { "id": "0080016", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ] }, { "disease_id": "DOID:0110876", "recommended_name": { "id": "DOID:0110876", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110876", "name": "holoprosencephaly 7", "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0110876", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110876", "name": "HPE7", "description": "" }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "holoprosencephaly 7", "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "HPE7", "description": "" }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "PTCH1 holoprosencephaly", "description": "" }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "holoprosencephaly 7", "description": "" }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "holoprosencephaly caused by mutation in PTCH1", "description": "" }, { "id": "MONDO:0012562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012562", "name": "holoprosencephaly type 7", "description": "" }, { "id": "MIM:610828", "resource": "MIM", "url": "https://www.omim.org/entry/610828", "name": "Holoprosencephaly 7", "description": "Holoprosencephaly 7" } ], "evidence": [ { "id": "0110876", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110876" } ] }, { "disease_id": "DOID:10460", "recommended_name": { "id": "DOID:10460", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10460", "name": "nasopharyngitis", "description": "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx." }, "synonyms": [ { "id": "DOID:10460", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10460", "name": "chronic nasopharyngitis", "description": "" } ], "evidence": [ { "id": "10460", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10460" } ] }, { "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" } ], "evidence": [ { "id": "10534", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:12270", "recommended_name": { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc." }, "synonyms": [ { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma of eye", "description": "" }, { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "coloboma of macula", "description": "" }, { "id": "DOID:12270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12270", "name": "congenital ocular coloboma", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular, autosomal dominant", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, ocular, autosomal dominant", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma of iris, choroid, and retina", "description": "" }, { "id": "MONDO:0007350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007350", "name": "coloboma, Uveoretinal", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "coloboma of macula", "description": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "coloboma of macula", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "agenesis of macula", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "hereditary macular coloboma (subtype)", "description": "" }, { "id": "MONDO:0007351", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007351", "name": "macular coloboma", "description": "" }, { "id": "MONDO:0009002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009002", "name": "coloboma, ocular, autosomal recessive", "description": "" }, { "id": "MONDO:0009002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009002", "name": "coloboma, ocular, autosomal recessive", "description": "" }, { "id": "MIM:120200", "resource": "MIM", "url": "https://www.omim.org/entry/120200", "name": "Coloboma, ocular, autosomal dominant", "description": "Coloboma, ocular, autosomal dominant" }, { "id": "MIM:216820", "resource": "MIM", "url": "https://www.omim.org/entry/216820", "name": "Coloboma, ocular, autosomal recessive", "description": "Coloboma, ocular, autosomal recessive" } ], "evidence": [ { "id": "12270", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ] }, { "disease_id": "DOID:1289", "recommended_name": { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." }, "synonyms": [ { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "degenerative disease", "description": "" } ], "evidence": [ { "id": "1289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2512", "recommended_name": { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "nevoid basal cell carcinoma syndrome", "description": "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities." }, "synonyms": [ { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "Gorlin syndrome", "description": "" }, { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "NBCCS", "description": "" }, { "id": "DOID:2512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2512", "name": "basal cell nevus syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "Gorlin-Goltz syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "NBCCS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "basal cell nevus syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell carcinomas", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell cancer syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "nevoid basal cell carcinoma syndrome", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "BCNS", "description": "" }, { "id": "MONDO:0007187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007187", "name": "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies", "description": "" }, { "id": "MIM:109400", "resource": "MIM", "url": "https://www.omim.org/entry/109400", "name": "Basal cell nevus syndrome 1", "description": "Basal cell nevus syndrome 1" } ], "evidence": [ { "id": "2512", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2512" } ] }, { "disease_id": "DOID:2513", "recommended_name": { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells." }, "synonyms": [ { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell cancer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell carcinoma of skin", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell tumor", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Epithelioma basal cell", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Rodent ulcer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant basal cell tumor", "description": "" } ], "evidence": [ { "id": "2513", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "3748", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:4195", "recommended_name": { "id": "DOID:4195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4195", "name": "hyperglycemia", "description": "" }, "synonyms": [], "evidence": [ { "id": "4195", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ] }, { "disease_id": "DOID:4621", "recommended_name": { "id": "DOID:4621", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." }, "synonyms": [ { "id": "DOID:4621", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4621", "name": "Holoprosencephaly sequence", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1", "description": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "Hpe, familial", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "cyclopia", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "HPE1", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1, isolated cases", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly type 1", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "Demyer sequence", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "arhinencephaly", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly, familial Alobar", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "isolated arhinencephaly", "description": "" } ], "evidence": [ { "id": "4621", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ] }, { "disease_id": "DOID:4948", "recommended_name": { "id": "DOID:4948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:4948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4948", "name": "cancer of the gallbladder", "description": "" }, { "id": "DOID:4948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4948", "name": "carcinoma gallbladder", "description": "" }, { "id": "DOID:4948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4948", "name": "carcinoma of gallbladder", "description": "" } ], "evidence": [ { "id": "4948", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ] }, { "disease_id": "DOID:5522", "recommended_name": { "id": "DOID:5522", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5522", "name": "basaloid squamous cell carcinoma", "description": "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma." }, "synonyms": [ { "id": "DOID:5522", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5522", "name": "Basaloid carcinoma", "description": "" } ], "evidence": [ { "id": "5522", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5522" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P18502", "url": "https://www.uniprot.org/uniprot/P18502" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "ptc", "url": "https://www.uniprot.org/uniprot/P18502", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG2411", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG2411", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "HLYDTEW", "url": "https://omabrowser.org/oma/group/HLYDTEW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1219406at2759", "url": "http://www.orthodb.org/?query=1219406at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46022", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46022", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46022:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46022:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02460", "url": "http://pfam.xfam.org/family/PF02460", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P18502", "url": "http://purl.obolibrary.org/obo/PR_P18502", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5610787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5632681", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5632681", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5632684", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5632684", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_523661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523661", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P18502", "url": "https://www.uniprot.org/uniprot/P18502", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P18502-1", "url": "https://www.uniprot.org/uniprot/P18502-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDRDSLPRVPDTHGDVVDEKLFSDLYIRTSWVDAQVALDQIDKGKARGSRTAIYLRSVFQSHLETLGSSVQKHAGKVLFVAILVLSTFCVGLKSAQIHSKVHQLWIQEGGRLEAELAYTQKTIGEDESATHQLLIQTTHDPNASVLHPQALLAHLEVLVKATAVKVHLYDTEWGLRDMCNMPSTPSFEGIYYIEQILRHLIPCSIITPLDCFWEGSQLLGPESAVVIPGLNQRLLWTTLNPASVMQYMKQKMSEEKISFDFETVEQYMKRAAIGSGYMEKPCLNPLNPNCPDTAPNKNSTQPPDVGAILSGGCYGYAAKHMHWPEELIVGGAKRNRSGHLRKAQALQSVVQLMTEKEMYDQWQDNYKVHHLGWTQEKAAEVLNAWQRNFSREVEQLLRKQSRIATNYDIYVFSSAALDDILAKFSHPSALSIVIGVAVTVLYAFCTLLRWRDPVRGQSSVGVAGVLLMCFSTAAGLGLSALLGIVFNAASTQVVPFLALGLGVDHIFMLTAAYAESNRREQTKLILKKVGPSILFSACSTAGSFFAAAFIPVPALKVFCLQAAIVMCSNLAAALLVFPAMISLDLRRRTAGRADIFCCCFPVWKEQPKVAPPVLPLNNNNGRGARHPKSCNNNRVPLPAQNPLLEQRADIPGSSHSLASFSLATFAFQHYTPFLMRSWVKFLTVMGFLAALISSLYASTRLQDGLDIIDLVPKDSNEHKFLDAQTRLFGFYSMYAVTQGNFEYPTQQQLLRDYHDSFVRVPHVIKNDNGGLPDFWLLLFSEWLGNLQKIFDEEYRDGRLTKECWFPNASSDAILAYKLIVQTGHVDNPVDKELVLTNRLVNSDGIINQRAFYNYLSAWATNDVFAYGASQGKLYPEPRQYFHQPNEYDLKIPKSLPLVYAQMPFYLHGLTDTSQIKTLIGHIRDLSVKYEGFGLPNYPSGIPFIFWEQYMTLRSSLAMILACVLLAALVLVSLLLLSVWAAVLVILSVLASLAQIFGAMTLLGIKLSAIPAVILILSVGMMLCFNVLISLGFMTSVGNRQRRVQLSMQMSLGPLVHGMLTSGVAVFMLSTSPFEFVIRHFCWLLLVVLCVGACNSLLVFPILLSMVGPEAELVPLEHPDRISTPSPLPVRSSKRSGKSYVVQGSRSSRGSCQKSHHHHHKDLNDPSLTTITEEPQSWKSSNSSIQMPNDWTYQPREQRPASYAAPPPAYHKAAAQQHHQHQGPPTTPPPPFPTAYPPELQSIVVQPEVTVETTHSDSNTTKVTATANIKVELAMPGRAVRSYNFTS", "length": 1286, "header": "sp|P18502-1|PTC_DROME Isoform 1 of Protein patched OS=Drosophila melanogaster OX=7227 GN=ptc PE=2 SV=2 CANONICAL=P18502-1" }, "isoforms": [ { "isoform_ac": "P18502-1", "url": "", "sequence": { "sequence": "MDRDSLPRVPDTHGDVVDEKLFSDLYIRTSWVDAQVALDQIDKGKARGSRTAIYLRSVFQSHLETLGSSVQKHAGKVLFVAILVLSTFCVGLKSAQIHSKVHQLWIQEGGRLEAELAYTQKTIGEDESATHQLLIQTTHDPNASVLHPQALLAHLEVLVKATAVKVHLYDTEWGLRDMCNMPSTPSFEGIYYIEQILRHLIPCSIITPLDCFWEGSQLLGPESAVVIPGLNQRLLWTTLNPASVMQYMKQKMSEEKISFDFETVEQYMKRAAIGSGYMEKPCLNPLNPNCPDTAPNKNSTQPPDVGAILSGGCYGYAAKHMHWPEELIVGGAKRNRSGHLRKAQALQSVVQLMTEKEMYDQWQDNYKVHHLGWTQEKAAEVLNAWQRNFSREVEQLLRKQSRIATNYDIYVFSSAALDDILAKFSHPSALSIVIGVAVTVLYAFCTLLRWRDPVRGQSSVGVAGVLLMCFSTAAGLGLSALLGIVFNAASTQVVPFLALGLGVDHIFMLTAAYAESNRREQTKLILKKVGPSILFSACSTAGSFFAAAFIPVPALKVFCLQAAIVMCSNLAAALLVFPAMISLDLRRRTAGRADIFCCCFPVWKEQPKVAPPVLPLNNNNGRGARHPKSCNNNRVPLPAQNPLLEQRADIPGSSHSLASFSLATFAFQHYTPFLMRSWVKFLTVMGFLAALISSLYASTRLQDGLDIIDLVPKDSNEHKFLDAQTRLFGFYSMYAVTQGNFEYPTQQQLLRDYHDSFVRVPHVIKNDNGGLPDFWLLLFSEWLGNLQKIFDEEYRDGRLTKECWFPNASSDAILAYKLIVQTGHVDNPVDKELVLTNRLVNSDGIINQRAFYNYLSAWATNDVFAYGASQGKLYPEPRQYFHQPNEYDLKIPKSLPLVYAQMPFYLHGLTDTSQIKTLIGHIRDLSVKYEGFGLPNYPSGIPFIFWEQYMTLRSSLAMILACVLLAALVLVSLLLLSVWAAVLVILSVLASLAQIFGAMTLLGIKLSAIPAVILILSVGMMLCFNVLISLGFMTSVGNRQRRVQLSMQMSLGPLVHGMLTSGVAVFMLSTSPFEFVIRHFCWLLLVVLCVGACNSLLVFPILLSMVGPEAELVPLEHPDRISTPSPLPVRSSKRSGKSYVVQGSRSSRGSCQKSHHHHHKDLNDPSLTTITEEPQSWKSSNSSIQMPNDWTYQPREQRPASYAAPPPAYHKAAAQQHHQHQGPPTTPPPPFPTAYPPELQSIVVQPEVTVETTHSDSNTTKVTATANIKVELAMPGRAVRSYNFTS", "length": 1286, "header": "sp|P18502-1|PTC_DROME Isoform 1 of Protein patched OS=Drosophila melanogaster OX=7227 GN=ptc PE=2 SV=2 CANONICAL=P18502-1" }, "locus": { "chromosome": "2R", "start_pos": 8664333, "end_pos": 8650422, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0089427", "url": "https://www.ensembl.org/id/FBtr0089427" }, { "database": "Ensembl Peptide", "id": "FBpp0088443", "url": "https://www.ensembl.org/id/FBpp0088443" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "P18502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18502#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "P18502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18502#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 335, "start_aa": "Asn", "end_pos": 335, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn335", "evidence": [ { "id": "P18502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18502#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "P18502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18502#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 807, "start_aa": "Asn", "end_pos": 807, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "evidence": [ { "id": "P18502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18502#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "P18502", "url": "https://www.uniprot.org/uniprot/P18502" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "P18502", "url": "https://www.uniprot.org/uniprot/P18502" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Identification of Hedgehog pathway components by RNAi in Drosophila cultured cells.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Lum L, Yao S, Mozer B, Rovescalli A, Von Kessler D, Nirenberg M, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "12663920", "url": "https://glygen.org/publication/PubMed/12663920" } ] }, { "title": "Stability and association of Smoothened, Costal2 and Fused with Cubitus interruptus are regulated by Hedgehog.", "journal": "Nature cell biology", "date": "2003", "authors": "Ruel L, Rodriguez R, Gallet A, Lavenant-Staccini L, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14523402", "url": "https://glygen.org/publication/PubMed/14523402" } ] }, { "title": "Smoothened transduces Hedgehog signal by physically interacting with Costal2/Fused complex through its C-terminal tail.", "journal": "Genes & development", "date": "2003", "authors": "Jia J, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14597665", "url": "https://glygen.org/publication/PubMed/14597665" } ] }, { "title": "Identification of a functional interaction between the transmembrane protein Smoothened and the kinesin-related protein Costal2.", "journal": "Current biology : CB", "date": "2003", "authors": "Ogden SK, Ascano M Jr, Stegman MA, Suber LM, Hooper JE, Robbins DJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14614827", "url": "https://glygen.org/publication/PubMed/14614827" } ] }, { "title": "Hedgehog signal transduction via Smoothened association with a cytoplasmic complex scaffolded by the atypical kinesin, Costal-2.", "journal": "Molecular cell", "date": "2003", "authors": "Lum L, Zhang C, Oh S, Mann RK, von Kessler DP, Taipale J, Weis-Garcia F, Gong R, Wang B, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-209338", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209338" } ], "reference": [ { "type": "PubMed", "id": "14636583", "url": "https://glygen.org/publication/PubMed/14636583" } ] }, { "title": "Reading the Hedgehog morphogen gradient by measuring the ratio of bound to unbound Patched protein.", "journal": "Nature", "date": "2004", "authors": "Casali A, Struhl G", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15300262", "url": "https://glygen.org/publication/PubMed/15300262" } ] }, { "title": "Functions of heparan sulfate proteoglycans in cell signaling during development.", "journal": "Development (Cambridge, England)", "date": "2004", "authors": "Lin X", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15563523", "url": "https://glygen.org/publication/PubMed/15563523" } ] }, { "title": "Drosophila Smoothened phosphorylation sites essential for Hedgehog signal transduction.", "journal": "Nature cell biology", "date": "2005", "authors": "Apionishev S, Katanayeva NM, Marks SA, Kalderon D, Tomlinson A", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15592457", "url": "https://glygen.org/publication/PubMed/15592457" } ] }, { "title": "Extensive phosphorylation of Smoothened in Hedgehog pathway activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Zhang C, Williams EH, Guo Y, Lum L, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15598741", "url": "https://glygen.org/publication/PubMed/15598741" } ] }, { "title": "Hedgehog signalling activity of Smoothened requires phosphorylation by protein kinase A and casein kinase I.", "journal": "Nature", "date": "2004", "authors": "Jia J, Tong C, Wang B, Luo L, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15616566", "url": "https://glygen.org/publication/PubMed/15616566" } ] }, { "title": "Lipoprotein particles are required for Hedgehog and Wingless signalling.", "journal": "Nature", "date": "2005", "authors": "Panakova D, Sprong H, Marois E, Thiele C, Eaton S", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "15875013", "url": "https://glygen.org/publication/PubMed/15875013" } ] }, { "title": "Mechanisms of Hedgehog gradient formation and interpretation.", "journal": "Journal of neurobiology", "date": "2005", "authors": "Torroja C, Gorfinkiel N, Guerrero I", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "16041759", "url": "https://glygen.org/publication/PubMed/16041759" } ] }, { "title": "The ihog cell-surface proteins bind Hedgehog and mediate pathway activation.", "journal": "Cell", "date": "2006", "authors": "Yao S, Lum L, Beachy P", "evidence": [ { "database": "Reactome", "id": "R-DME-209214", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209214" } ], "reference": [ { "type": "PubMed", "id": "16630821", "url": "https://glygen.org/publication/PubMed/16630821" } ] }, { "title": "Structure of a heparin-dependent complex of Hedgehog and Ihog.", "journal": 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