Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0036572
Disease: Seizures
Seizures 		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: C0036572
Disease: Seizures
Seizures 		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: C0036572
Disease: Seizures
Seizures 		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: C0036572
Disease: Seizures
Seizures 		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: C0036572
Disease: Seizures
Seizures 		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
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker HPO

Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR