HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Tay-Sachs Disease, Variant B1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		0.410 GeneticVariation disease BEFREE Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465+1G> A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. 28923328 2017
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		0.410 GermlineCausalMutation disease ORPHANET
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		0.410 CausalMutation disease CLINVAR