HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Gangliosidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 GeneticVariation disease BEFREE The effect of the S4P change was much less than that of another HEXA mutation, G269S, associated with an adult onset form of G(M2) gangliosidosis. 15108204 2004
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 GeneticVariation disease BEFREE We identified a 1422 G-->C (amino acid W474C) substitution in the first position of exon 13 of HEXA of a non-Jewish proband who manifested a subacute variant of G(M2) gangliosidosis. 9603435 1998
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		0.030 GeneticVariation disease BEFREE Mutations in the HEXA gene cause Tay-Sachs disease (TSD), a GM2 ganglioside storage disorder. 8995368 1997