Annotation Detail

Information
Associated Genes
PIK3R1
Associated Variants
PIK3R1 MUTATION
PIK3R1 MUTATION
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
IRS2 p.Gly1057Asp (p.G1057D) ( ENST00000375856.5 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000336483.10, ENST00000521381.6, ENST00000522084.6, ENST00000320694.13, ENST00000517643.2, ENST00000521657.6, ENST00000697457.1, ENST00000697458.1, ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000697465.1, ENST00000697466.1 )
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000250971.7, ENST00000381330.5, ENST00000397262.5 )
IRS2 p.Gly1057Asp (p.G1057D) ( ENST00000375856.5 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000320694.13, ENST00000336483.10, ENST00000517643.2, ENST00000521381.6, ENST00000521657.6, ENST00000522084.6, ENST00000697457.1, ENST00000697458.1, ENST00000697465.1, ENST00000697466.1 )
Associated Disease
Diabetes
Source Database
DisGeNET
Description
The aim of our study was to investigate whether common polymorphisms in the genes regulating the early insulin signalling pathway (insulin; A-23T, insulin-like growth factor 1 receptor [IGF-1R]; GAG1013GAA, plasma cell membrane glycoprotein 1 [PC-1]; K121Q, insulin receptor substrate [IRS-1]; G972R, insulin receptor substrate 2 [IRS-2]; G1057D and phosphatidylinositol 3-kinase p85 alpha [PI3K]; M326I) affect the weight change and development of Type 2 diabetes in the Finnish Diabetes Prevention Study.
Pubmed
15127203
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2004
Drugs