Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	8956762
Species:	Chinchilla lanigera
RGD Object:	Gene
Symbol:	Gphn
Name:	gephyrin

Acc ID:	DOID:9000849
Term:	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Definition:	null

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 Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Gphn		ISO	GPHN (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome	PMID:24916380 PMID:25741868 PMID:28492532

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.