Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.110 GeneticVariation disease BEFREE The HEXA gene was first analyzed for the Gly269-->Ser mutation characteristic for adult GM2 gangliosidosis. 9153525 1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.110 CausalMutation disease CLINVAR
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		0.010 GeneticVariation disease BEFREE Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. 8950198 1996