HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Tay-Sachs Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588 2016
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. 14566483 2003
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. 9603435 1998
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease. 9401008 1997
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157 1997
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Tay-Sachs disease and HEXA mutations among Moroccan Jews. 9338583 1997
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. 8757036 1996
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. 7717398 1995
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. 8581357 1995
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Molecular genetics of Tay-Sachs disease in Japan. 7837766 1994
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease. 7951261 1994
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625 1993
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. 8445615 1993
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Novel Tay-Sachs disease mutations from China. 1301190 1992
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. 1301189 1992
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. 1302612 1992
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283 1991
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679 1989
dbSNP: rs1057521137
rs1057521137
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.700 GeneticVariation UNIPROT A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. 2970528 1988