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: rs104894572
rs104894572 		1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 10 1999 2011
dbSNP: rs80084721
rs80084721 		0.925 0.160 17 75763032 missense variant G/A;T snv 1.2E-03
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 6 1999 2004
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: rs104894576
rs104894576 		1.000 0.120 17 75765043 missense variant C/T snv 8.6E-06 2.8E-05
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 1.000 6 1999 2004
dbSNP: rs1184406839
rs1184406839 		1.000 0.120 17 75758085 missense variant C/G snv 4.1E-06
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 1.000 6 1999 2004
dbSNP: rs1555748926
rs1555748926 		1.000 0.120 17 75765007 missense variant G/A snv
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 1.000 6 1999 2004
dbSNP: rs575139300
rs575139300 		1.000 0.120 17 75762781 missense variant C/T snv 2.8E-05 7.0E-06
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 1.000 6 1999 2004
dbSNP: rs754967473
rs754967473 		1.000 0.120 17 75758272 missense variant C/T snv 1.4E-05 4.2E-05
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 1.000 6 1999 2004
dbSNP: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
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: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
dbSNP: rs767329054
rs767329054 		1.000 0.120 17 75763385 frameshift variant C/-;CC 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 1.000 2 1999 2010
dbSNP: rs111033608
rs111033608 		1.000 0.120 17 75758091 stop gained G/A snv 3.7E-05 8.4E-05
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 1.000 1 2000 2000
dbSNP: rs371517491
rs371517491 		1.000 0.120 17 75758286 missense variant G/A snv 1.5E-05 4.2E-05
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 1.000 1 1999 1999
dbSNP: rs1026685248
rs1026685248 		1.000 0.120 17 75758300 stop gained A/G;T snv 4.7E-06 7.0E-06
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: rs104894577
rs104894577 		1.000 0.120 17 75764014 stop gained C/A snv
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: rs113464656
rs113464656 		1.000 0.120 17 75758448 splice donor variant C/A;G;T snv
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: 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: rs1311294794
rs1311294794 		1.000 0.120 17 75765136 start lost T/C;G snv
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: rs1365349586
rs1365349586 		1.000 0.120 17 75764050 missense variant G/A snv 7.0E-06
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: rs1555748534
rs1555748534 		1.000 0.120 17 75762785 frameshift variant -/GGTACTCGCTGGAGGCCAGGGAG 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: rs1555748556
rs1555748556 		1.000 0.120 17 75762886 splice acceptor variant C/T snv
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: rs1555748940
rs1555748940 		1.000 0.120 17 75765058 stop gained C/A snv
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: rs375690568
rs375690568 		1.000 0.120 17 75758281 missense variant C/T snv 9.2E-05 7.0E-05
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: rs759284637
rs759284637 		1.000 0.120 17 75758530 missense variant G/A snv 1.9E-05 2.1E-05
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