GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Weber-Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.100 GeneticVariation disease CLINVAR Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 12485428 2002
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.100 GeneticVariation disease CLINVAR Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780 1999