Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
0.800 GeneticVariation UNIPROT SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 12189494 2002
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
0.800 GeneticVariation UNIPROT Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. 8634719 1995
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
0.800 CausalMutation CLINVAR