INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Donohue Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906538
rs387906538
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.710 GeneticVariation BEFREE Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome. 26974131 2016
dbSNP: rs387906538
rs387906538
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		A 0.710 CausalMutation CLINVAR