rs752411521, CBFA2T2

N. diseases: 1
Disease: Acanthosis Nigricans ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
0.010 GeneticVariation BEFREE We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans. 12107746 2002