GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Epidermolysis bullosa with pyloric atresia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912467
rs121912467 		1.000 0.080 17 75752221 missense variant C/A;T snv 4.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
dbSNP: rs121912464
rs121912464 		1.000 0.080 17 75755785 stop gained G/A snv
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726676
rs794726676 		1.000 0.080 17 75755759 frameshift variant G/- delins
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0