GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
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: rs770087254
rs770087254 		1.000 0.120 17 75758519 frameshift variant GCCTGGGCCGTGCGCCGAATCT/- delins
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771067891
rs771067891 		1.000 0.120 17 75765033 frameshift variant -/GC delins
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System 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
dbSNP: rs104894572
rs104894572 		1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs743554
rs743554 		1.000 0.080 17 75758167 intron variant G/A snv 0.14 0.17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs743554
rs743554 		1.000 0.080 17 75758167 intron variant G/A snv 0.14 0.17
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs750367954
rs750367954 		1.000 0.040 17 75756955 missense variant C/T snv 3.6E-05 4.9E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs80084721
rs80084721 		0.925 0.160 17 75763032 missense variant G/A;T snv 1.2E-03
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2001 2001