CHN1, chimerin 1, 1123

N. diseases: 112; N. variants: 13
Disease: Duane Retraction Syndrome, Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912798
rs121912798
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		0.800 GeneticVariation UNIPROT Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. 18653847 2008
dbSNP: rs121912798
rs121912798
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		T 0.800 CausalMutation CLINVAR