{ "uniprot_canonical_ac": "O15259-1", "uniprot_ac": "O15259", "uniprot_id": "NPHP1_HUMAN", "mass": { "chemical_mass": 83299.0, "monoisotopic_mass": 83299.0 }, "refseq": { "ac": "NP_000263", "name": "nephrocystin-1 isoform 1", "summary": "This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" }, "gene_names": [ { "name": "NPHP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15259", "id": "O15259" }, { "name": "JBTS4; NPH1; SLSN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263", "id": "NP_000263" }, { "name": "NPH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15259", "id": "O15259" }, { "name": "NPHP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263", "id": "NP_000263" }, { "name": "hCG_1988612", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15259", "id": "O15259" } ], "protein_names": [ { "name": "Nephrocystin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15259" }, { "name": "Juvenile nephronophthisis 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15259" }, { "name": "nephrocystin-1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263", "id": "NP_000263" }, { "name": "nephronophthisis 1 (juvenile); juvenile nephronophthisis 1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263", "id": "NP_000263" } ], "function": [ { "annotation": "A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" }, { "database": "PubMed", "id": "36948406", "url": "https://glygen.org/publication/PubMed/36948406" } ] }, { "annotation": "An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" }, { "database": "PubMed", "id": "34415307", "url": "https://glygen.org/publication/PubMed/34415307" } ] }, { "annotation": "NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" }, { "database": "PubMed", "id": "34153329", "url": "https://glygen.org/publication/PubMed/34153329" } ] }, { "annotation": "Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" }, { "database": "PubMed", "id": "36942623", "url": "https://glygen.org/publication/PubMed/36942623" } ] }, { "annotation": "This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" } ] }, { "annotation": "Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259#function" }, { "database": "UniProtKB", "id": "Q9QY53", "url": "https://www.uniprot.org/uniprot/Q9QY53#function" } ] } ], "disease": [ { "disease_id": "DOID:0050576", "recommended_name": { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." }, "synonyms": [ { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Loken Senior syndrome", "description": "" }, { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "NPHP1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome type 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "senior-loken syndrome-1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Loken-Senior syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SENIOR-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SLSN1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "juvenile nephronophthisis with Leber amaurosis", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal dysplasia and retinal aplasia", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "IQCB1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome caused by mutation in IQCB1", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome type 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SENIOR-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SLSN5", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "senior-loken syndrome 3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SLSN3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SENIOR-Loken syndrome 3", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "NPHP4 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome caused by mutation in NPHP4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome type 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SENIOR-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SLSN4", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SDCCAG8 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome caused by mutation in SDCCAG8", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome type 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SENIOR-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SLSN7", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "CEP290 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome type 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SENIOR-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SLSN6", "description": "" }, { "id": "MIM:266900", "resource": "MIM", "url": "https://www.omim.org/entry/266900", "name": "Senior-Loken syndrome 1", "description": "Senior-Loken syndrome 1" }, { "id": "MIM:609254", "resource": "MIM", "url": "https://www.omim.org/entry/609254", "name": "Senior-Loken syndrome 5", "description": "Senior-Loken syndrome 5" }, { "id": "MIM:606996", "resource": "MIM", "url": "https://www.omim.org/entry/606996", "name": "Senior-Loken syndrome 4", "description": "Senior-Loken syndrome 4" }, { "id": "MIM:613615", "resource": "MIM", "url": "https://www.omim.org/entry/613615", "name": "Senior-Loken syndrome 7", "description": "Senior-Loken syndrome 7" }, { "id": "MIM:610189", "resource": "MIM", "url": "https://www.omim.org/entry/610189", "name": "Senior-Loken syndrome 6", "description": "Senior-Loken syndrome 6" } ], "evidence": [ { "id": "266900", "database": "MIM", "url": "https://www.omim.org/entry/266900" } ] }, { "disease_id": "DOID:0110999", "recommended_name": { "id": "DOID:0110999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110999", "name": "Joubert syndrome 4", "description": "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13." }, "synonyms": [ { "id": "DOID:0110999", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110999", "name": "JBTS4", "description": "" }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "Joubert syndrome with renal defect", "description": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "JBTS4", "description": "" }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "JS-R", "description": "" }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "Joubert syndrome type 4", "description": "" }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "Joubert syndrome 4", "description": "" }, { "id": "MONDO:0012308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012308", "name": "Joubert syndrome with renal anomalies", "description": "" }, { "id": "MIM:609583", "resource": "MIM", "url": "https://www.omim.org/entry/609583", "name": "Joubert syndrome 4", "description": "Joubert syndrome 4" } ], "evidence": [ { "id": "609583", "database": "MIM", "url": "https://www.omim.org/entry/609583" } ] }, { "disease_id": "DOID:0111112", "recommended_name": { "id": "DOID:0111112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111112", "name": "nephronophthisis 1", "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13." }, "synonyms": [ { "id": "DOID:0111112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111112", "name": "NPH1", "description": "" }, { "id": "DOID:0111112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111112", "name": "NPHP1", "description": "" }, { "id": "DOID:0111112", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111112", "name": "juvenile nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPH1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "familial juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis (disease) caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1, juvenile", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis type 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "Nph1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis, familial juvenile", "description": "" }, { "id": "MIM:256100", "resource": "MIM", "url": "https://www.omim.org/entry/256100", "name": "Nephronophthisis 1", "description": "Nephronophthisis 1" } ], "evidence": [ { "id": "256100", "database": "MIM", "url": "https://www.omim.org/entry/256100" } ] }, { "disease_id": "DOID:12712", "recommended_name": { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." }, "synonyms": [ { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "medullary cystic disease", "description": "" }, { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "medullary cystic kidney", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPH1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "familial juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis (disease) caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1, juvenile", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis type 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "Nph1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis, familial juvenile", "description": "" }, { "id": "MIM:256100", "resource": "MIM", "url": "https://www.omim.org/entry/256100", "name": "Nephronophthisis 1", "description": "Nephronophthisis 1" } ], "evidence": [ { "id": "256100", "database": "MIM", "url": "https://www.omim.org/entry/256100" } ] } ], "snv": [ { "evidence": [ { "id": "O15259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15259" } ], "glycoeffect": [], "start_pos": 477, "end_pos": 477, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "110147921", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R477", "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": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 121, "end_pos": 121, "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs interaction with PACS1; when associated with A-123 and A-126.", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ] }, { "start_pos": 123, "end_pos": 123, "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs interaction with PACS1; when associated with A-121 and A-126.", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ] }, { "start_pos": 126, "end_pos": 126, "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs interaction with PACS1; when associated with A-121 and A-123.", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ] }, { "start_pos": 180, "end_pos": 180, "sequence_org": "L", "sequence_mut": "P", "comment": "Loss of SH3 domain fold.", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "PubMed", "id": "15723349", "url": "https://glygen.org/publication/PubMed/15723349" } ] }, { "start_pos": 203, "end_pos": 203, "sequence_org": "P", "sequence_mut": "L", "comment": "Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1.", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "PubMed", "id": "20856870", "url": "https://glygen.org/publication/PubMed/20856870" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "52.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "70.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "59.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "74.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15259" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15259" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15259" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15259" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "common_name": "Human" } ], "gene": [ { "name": "NPHP1", "url": "https://www.uniprot.org/uniprot/O15259", "locus": { "chromosome": "2", "start_pos": 110122311, "end_pos": 110205066, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000144061", "url": "https://www.ensembl.org/id/ENSG00000144061" } ] } } ], "crossref": [ { "id": "ENSG00000144061", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144061", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15259", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15259", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd11770", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11770", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NPHP1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4867", "url": "https://www.ncbi.nlm.nih.gov/gene/4867", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7905", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7905", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15259", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15259*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030642", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030642", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036028", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036028", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039687", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039687", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4867", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4867", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "256100", "url": "http://www.omim.org/entry/256100", "database": "MIM", "categories": [ "Other" ] }, { "id": "266900", "url": "http://www.omim.org/entry/266900", "database": "MIM", "categories": [ "Other" ] }, { "id": "607100", "url": "http://www.omim.org/entry/607100", "database": "MIM", "categories": [ "Other" ] }, { "id": "609583", "url": "http://www.omim.org/entry/609583", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15259", "url": "https://www.nextprot.org/entry/NX_O15259", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15259", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15259", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CYLIALM", "url": "https://omabrowser.org/oma/group/CYLIALM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2900795at2759", "url": "http://www.orthodb.org/?query=2900795at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15176", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15176", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15176:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15176:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1S1N", "url": "https://www.rcsb.org/structure/1S1N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6O1Q", "url": "https://www.rcsb.org/structure/6O1Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00018", "url": "http://pfam.xfam.org/family/PF00018", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15259", "url": "https://pharos.nih.gov/targets/O15259", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15259", "url": "http://purl.obolibrary.org/obo/PR_O15259", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGI7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGI7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH10", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH10-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH10-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHD4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHD4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHS3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHS3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHS3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J082", "url": "https://www.uniprot.org/uniprot/C9J082", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J082-1", "url": "https://www.uniprot.org/uniprot/C9J082-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNM7", "url": "https://www.uniprot.org/uniprot/C9JNM7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNM7-1", "url": "https://www.uniprot.org/uniprot/C9JNM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C014", "url": "https://www.uniprot.org/uniprot/H7C014", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C014-1", "url": "https://www.uniprot.org/uniprot/H7C014-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2K4", "url": "https://www.uniprot.org/uniprot/H7C2K4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2K4-1", "url": "https://www.uniprot.org/uniprot/H7C2K4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15259-1", "url": "https://www.uniprot.org/uniprot/O15259-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15259-2", "url": "https://www.uniprot.org/uniprot/O15259-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15259-3", "url": "https://www.uniprot.org/uniprot/O15259-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15259-4", "url": "https://www.uniprot.org/uniprot/O15259-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 732, "header": "sp|O15259-1|NPHP1_HUMAN Isoform 1 of Nephrocystin-1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PGI7-1", "url": "", "sequence": { "sequence": "VDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKFVLTLLIKTYPRKGKLQKKGLLDLQFRMAEEASQSWQKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKVKYESPH", "length": 609, "header": "tr|A0A6Q8PGI7-1|A0A6Q8PGI7_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110201494, "end_pos": 110125616, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674677.1", "url": "https://www.ensembl.org/id/ENST00000674677.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502265.1", "url": "https://www.ensembl.org/id/ENSP00000502265.1" } ] } }, { "isoform_ac": "A0A6Q8PH10-1", "url": "", "sequence": { "sequence": "EPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 409, "header": "tr|A0A6Q8PH10-1|A0A6Q8PH10_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110168454, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676091.1", "url": "https://www.ensembl.org/id/ENST00000676091.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502528.1", "url": "https://www.ensembl.org/id/ENSP00000502528.1" } ] } }, { "isoform_ac": "A0A6Q8PHD4-1", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 616, "header": "tr|A0A6Q8PHD4-1|A0A6Q8PHD4_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676028.1", "url": "https://www.ensembl.org/id/ENST00000676028.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502639.1", "url": "https://www.ensembl.org/id/ENSP00000502639.1" } ] } }, { "isoform_ac": "A0A6Q8PHS3-1", "url": "", "sequence": { "sequence": "MGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 410, "header": "tr|A0A6Q8PHS3-1|A0A6Q8PHS3_HUMAN Computationally mapped isoform of Nephronophthisis 1 (Juvenile), isoform CRA_e OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110163105, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675067.1", "url": "https://www.ensembl.org/id/ENST00000675067.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502817.1", "url": "https://www.ensembl.org/id/ENSP00000502817.1" } ] } }, { "isoform_ac": "C9J082-1", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF", "length": 121, "header": "tr|C9J082-1|C9J082_HUMAN Computationally mapped isoform of Nephronophthisis 1 (Juvenile), isoform CRA_g OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110178389, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418527.1", "url": "https://www.ensembl.org/id/ENST00000418527.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000412351.1", "url": "https://www.ensembl.org/id/ENSP00000412351.1" } ] } }, { "isoform_ac": "C9JNM7-1", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKLSKPVSPREGKKKWPELYHILKTMHCSCLPCYKIMRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 711, "header": "tr|C9JNM7-1|C9JNM7_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417665.5", "url": "https://www.ensembl.org/id/ENST00000417665.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402176.1", "url": "https://www.ensembl.org/id/ENSP00000402176.1" } ] } }, { "isoform_ac": "H7C014-1", "url": "", "sequence": { "sequence": "XLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKVKYESPH", "length": 47, "header": "tr|H7C014-1|H7C014_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=4 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110129259, "end_pos": 110125615, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422492.1", "url": "https://www.ensembl.org/id/ENST00000422492.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000392562.1", "url": "https://www.ensembl.org/id/ENSP00000392562.1" } ] } }, { "isoform_ac": "H7C2K4-1", "url": "", "sequence": { "sequence": "XRRQRDPLQALRRRNQELKQQRTPEAEYGTDFLFGVCRTSNQQPL", "length": 45, "header": "tr|H7C2K4-1|H7C2K4_HUMAN Computationally mapped isoform of Nephrocystin 1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=4 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204961, "end_pos": 110202407, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449600.1", "url": "https://www.ensembl.org/id/ENST00000449600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000406453.1", "url": "https://www.ensembl.org/id/ENSP00000406453.1" } ] } }, { "isoform_ac": "O15259-1", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 732, "header": "sp|O15259-1|NPHP1_HUMAN Isoform 1 of Nephrocystin-1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393272.7", "url": "https://www.ensembl.org/id/ENST00000393272.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376953.3", "url": "https://www.ensembl.org/id/ENSP00000376953.3" } ] } }, { "isoform_ac": "O15259-2", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 677, "header": "sp|O15259-2|NPHP1_HUMAN Isoform 2 of Nephrocystin-1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445609.7", "url": "https://www.ensembl.org/id/ENST00000445609.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000389879.3", "url": "https://www.ensembl.org/id/ENSP00000389879.3" } ] } }, { "isoform_ac": "O15259-3", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 614, "header": "sp|O15259-3|NPHP1_HUMAN Isoform 3 of Nephrocystin-1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355301.8", "url": "https://www.ensembl.org/id/ENST00000355301.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000347452.4", "url": "https://www.ensembl.org/id/ENSP00000347452.4" } ] } }, { "isoform_ac": "O15259-4", "url": "", "sequence": { "sequence": "MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV", "length": 733, "header": "sp|O15259-4|NPHP1_HUMAN Isoform 4 of Nephrocystin-1 OS=Homo sapiens OX=9606 GN=NPHP1 PE=1 SV=1 CANONICAL=O15259-1" }, "locus": { "chromosome": "2", "start_pos": 110204968, "end_pos": 110123794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000316534.8", "url": "https://www.ensembl.org/id/ENST00000316534.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000313169.4", "url": "https://www.ensembl.org/id/ENSP00000313169.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15259", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15259" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser121" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser121" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser123" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser123" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser126" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "16308564", "url": "https://glygen.org/publication/PubMed/16308564" } ], "site_lbl": "Ser126" }, { "start_pos": 349, "end_pos": 349, "kinase_uniprot_canonical_ac": "Q14289-1", "kinase_gene_name": "PTK2B", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr349" }, { "start_pos": 349, "end_pos": 349, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FAK2", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr349" }, { "start_pos": 382, "end_pos": 382, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser382" }, { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "Q14289-1", "kinase_gene_name": "PTK2B", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr46" }, { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FAK2", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr46" }, { "start_pos": 721, "end_pos": 721, "kinase_uniprot_canonical_ac": "Q14289-1", "kinase_gene_name": "PTK2B", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr721" }, { "start_pos": 721, "end_pos": 721, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by SRC", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" }, { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "21357692", "url": "https://glygen.org/publication/PubMed/21357692" } ], "site_lbl": "Tyr721" }, { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "P53350-1", "kinase_gene_name": "PLK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "22701722", "url": "https://glygen.org/publication/PubMed/22701722" } ], "site_lbl": "Thr87" }, { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15259" }, { "database": "PubMed", "id": "22701722", "url": "https://glygen.org/publication/PubMed/22701722" } ], "site_lbl": "Thr87" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.", "journal": "The Journal of pediatrics", "date": "2000", "authors": "Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "10839884", "url": "https://glygen.org/publication/PubMed/10839884" } ] }, { "title": "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.", "journal": "Nat. Genet.", "date": "2002", "authors": "Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "12244321", "url": "https://glygen.org/publication/PubMed/12244321" } ] }, { "title": "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.", "journal": "Nat. Genet.", "date": "2003", "authors": "Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "12872122", "url": "https://glygen.org/publication/PubMed/12872122" } ] }, { "title": "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.", "journal": "Nat. Genet.", "date": "2003", "authors": "Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "12872123", "url": "https://glygen.org/publication/PubMed/12872123" } ] }, { "title": "The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.", "journal": "Am. J. Hum. 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"authors": "Balestra FR, Strnad P, Fluckiger I, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23769972", "url": "https://glygen.org/publication/PubMed/23769972" } ] }, { "title": "Primary ciliogenesis requires the distal appendage component Cep123.", "journal": "Biology open", "date": "2013", "authors": "Sillibourne JE, Hurbain I, Grand-Perret T, Goud B, Tran P, Bornens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23789104", "url": "https://glygen.org/publication/PubMed/23789104" } ] }, { "title": "CP110 and its network of partners coordinately regulate cilia assembly.", "journal": "Cilia", "date": "2013", "authors": "Tsang WY, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": 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Genet.", "date": "2015", "authors": "Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "26477546", "url": "https://glygen.org/publication/PubMed/26477546" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15259", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15259" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.", "journal": "Kidney international", "date": "2021", "authors": "Birtel J, Spital G, Book M, Habbig S, Baumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, Konig J, Charbel Issa P", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" } ], "reference": [ { "type": "PubMed", "id": "34153329", "url": "https://glygen.org/publication/PubMed/34153329" } ] }, { "title": "An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.", "journal": "Human molecular genetics", "date": "2021", "authors": "Li D, Hu M, Chen H, Wu X, Wei X, Lin H, Gao X, Wang H, Li M, Ong ACM, Yue Z, Sun L", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" } ], "reference": [ { "type": "PubMed", "id": "34415307", "url": "https://glygen.org/publication/PubMed/34415307" } ] }, { "title": "Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.", "journal": "Clinical pediatrics", "date": "2023-03-21", "authors": "Tong Huajuan, Zhao Feng, Yang Yonghui, Qiu Xiaojian, Zhu Liying, Yu Zihua", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" } ], "reference": [ { "type": "PubMed", "id": "36942623", "url": "https://glygen.org/publication/PubMed/36942623" } ] }, { "title": "A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.", "journal": "Transplant immunology", "date": "2023-03-20", "authors": "Liu Yiting, Qiu Tao, Chen Zhongbao, Ma Xiaoxiong, Wang Tianyu, Zhang Yalong, Kong Chenyang, Yu Bo, Guo Jiayu, Zhou Jiangqiao", "evidence": [ { "database": "RefSeq", "id": "NP_000263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000263" } ], "reference": [ { "type": "PubMed", "id": "36948406", "url": "https://glygen.org/publication/PubMed/36948406" } ] }, { "title": "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.", "journal": "Nat. Genet.", "date": "1997", "authors": "Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M", "evidence": [ { "database": "UniProtKB", "id": "O15259", "url": "https://www.uniprot.org/uniprot/O15259" } ], "reference": [ { "type": "PubMed", "id": "9326933", "url": "https://glygen.org/publication/PubMed/9326933" } ] }, { "title": "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.", "journal": "Hum. Mol. 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