Galactosemia

Disease Term Disease ID Gene Symbol Classification References Source
Classic galactosemia 79239 GALT Causal Pathogenic evidence from ClinVar - ClinVar
Classical galactosemia C0268151 GALT Causal Pathogenic evidence from ClinVar 1373122, 1427861, 1610789, 1766867, 1897530, 2011574, 7550229, 7671959, 7887416, 7887417, 8112740, 8198125, 8499924, 8522334, 8551426, 8598637, 8692963, 8741038, 8869397, 8892021, 8956044, 9222760, 9396569, 9635294, 9686364, 9772178, 10037750, 10070616, 10220154, 10384398, 10399107, 10408771, 10535394, 10573007, 10649501, 10811638, 10960497, 11152465, 11261429, 11286503, 11397328, 11479743, 11596650, 11754113, 11919338, 12208137, 12350230, 12595586, 14518827, 14728988, 15172000, 15633893, 15775761, 15841485, 16540753, 17041746, 17079880, 17143577, 17303100, 17486650, 17876724, 17884932, 18207281, 18210213, 18813948, 18956253, 19181333, 19224951, 19375122, 19418241, 19581158, 20008339, 20100763, 20213376, 20547145, 20663501, 21188552, 21228398, 21779791, 22461411, 22693313, 22729817, 22743281, 22773758, 22870861, 22944367, 22963887, 23022339, 23319291, 23418865, 23430559, 23583749, 23690308, 23749220, 23924834, 24045215, 24973740, 25052314, 25087612, 25124065, 25268296, 25525159, 25592817, 25614870, 25814382 ClinVar
GALE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -
GALK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7670469 -
Classical galactosemia, homozygous Duarte-type C0268152 GALT Causal Pathogenic evidence from ClinVar - ClinVar
Galactosemias C0016952 GALT Causal Pathogenic evidence from ClinVar 22773758, 27604308 ClinVar
GALE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25526675 -
GALK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7670469 -