rs121907972, HEXA

N. diseases: 6
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
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.800 GeneticVariation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
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
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
Abnormal thalamic MRI signal intensity
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
0.700 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