HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Abnormal thalamic MRI signal intensity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.100 CausalMutation phenotype CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624 2014
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.100 CausalMutation phenotype CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.100 CausalMutation phenotype CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157 1997
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		0.100 GeneticVariation phenotype CLINVAR