rs121907955, HEXA

N. diseases: 2
Disease: Tay-Sachs Disease ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908 2011
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Rapid identification of HEXA mutations in Tay-Sachs patients. 20100466 2010
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185 2008
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis. 16698036 2006
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. 16088929 2005
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Molecular genetics of Tay-Sachs disease in Japan. 7837766 1994
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 CausalMutation CLINVAR Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. 8044648 1993
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. 1827944 1991
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. 2140574 1990