Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157 1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289 1992
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 Biomarker phenotype HPO
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		0.100 Biomarker phenotype HPO
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		0.100 Biomarker phenotype HPO
Entrez Id: 2760
Gene Symbol: GM2A
GM2A 		0.100 Biomarker phenotype HPO
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		0.100 Biomarker phenotype HPO
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.100 Biomarker phenotype HPO
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		0.100 Biomarker phenotype HPO
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		0.100 Biomarker phenotype HPO
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		0.100 Biomarker phenotype HPO
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		0.100 CausalMutation phenotype CLINVAR