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: rs142391704
rs142391704
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.010 GeneticVariation BEFREE An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. 8702527 1996