rs1057519467, HEXA

N. diseases: 5
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 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012