GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 GeneticVariation disease BEFREE Here, we describe the molecular diagnosis of GALK1 deficiency as the cause of autosomal recessive congenital cataract in a family from Costa Rica. 24211322 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 Biomarker disease BEFREE 16 (8%) out of 200 infants with congenital cataracts were found to be GALK deficient with male: female:: 9:7. 22632133 2012
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 GeneticVariation disease BEFREE Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. 20405025 2010
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.040 Biomarker disease BEFREE Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. 7670469 1995