Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Natural history of infantile G(M2) gangliosidosis. 22025593

2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Natural history of infantile G(M2) gangliosidosis. 22025593

2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779

2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779

2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. 19330222

2009
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. 19330222

2009
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. 16199656

2005
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. 16199656

2005
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. 15714079

2005
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. 15714079

2005
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Tay-Sachs disease screening and counseling families at risk for metabolic disease. 12108829

2002
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Tay-Sachs disease screening and counseling families at risk for metabolic disease. 12108829

2002
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. 9073025

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. 9073025

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. 8230592

1993
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. 8230592

1993
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992