IL2RG, interleukin 2 receptor subunit gamma, 3561

N. diseases: 164; N. variants: 42
Disease: Congenital lamellar cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760755004
rs760755004
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C0266537
Disease:
Congenital lamellar cataract 		0.010 GeneticVariation BEFREE The authors focus attention on congenital lamellar cataract, which is associated with the R168W mutation in gammaC-crystallin, and congenital zonular pulverulent cataract, which is associated with a 5-bp insertion in the gammaC-crystallin gene. 17122105 2006