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: rs121913160
rs121913160
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.710 GeneticVariation BEFREE Another patient with leprechaunism was homozygous for a novel Asn431Asp mutation, which only partially reduces insulin proreceptor processing and activation of signaling cascades. 12970295 2003
dbSNP: rs121913160
rs121913160
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		C 0.710 CausalMutation CLINVAR