HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Hepatomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 CausalMutation phenotype CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 GeneticVariation phenotype CLINVAR