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GENE - TERM ANNOTATION REPORT

RGD ID: 1564116
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wdr35
Name: WD repeat domain 35
Acc ID: DOID:0110090
Term: short-rib thoracic dysplasia 7 with or without polydactyly
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17935248 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21473986 "DO" "DO"
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)
Wdr35 ISOWDR35 (Homo sapiens)7240710OMIM  
Wdr35 ISOWDR35 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactylyPMID:17576681 PMID:17935248 PMID:21473986 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25741914 PMID:25908617 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 PMID:9536098
Wdr35 ISSWdr35 (Mus musculus)13592920MouseDOOMIM:614091 
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