GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Blindness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0456909
Disease:
Blindness 		0.010 GeneticVariation BEFREE The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority. 10521295 1999