rs121907972, HEXA

N. diseases: 6
Disease: Abnormal thalamic MRI signal intensity ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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