Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848913
Disease: Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Juvenile
0.110 GeneticVariation disease BEFREE We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA. 20363167 2010
CUI: C1848913
Disease: Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Juvenile
0.110 CausalMutation disease CLINVAR