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GENE - TERM ANNOTATION REPORT

RGD ID: 3417
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prss1
Name: serine protease 1
Acc ID: DOID:9007505
Term: Familial Hypophosphatemic Rickets
Definition: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
Definition Source(s): MESH:D053098
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Prss1 ISOPRSS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANTPMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:2539344 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818
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