HHEX, hematopoietically expressed homeobox, 3087

N. diseases: 73; N. variants: 2
Disease: Gangliosidoses, GM2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.030 GeneticVariation disease BEFREE Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. 2220809 1990
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.030 Biomarker disease BEFREE This method of assay is especially helpful in the evaluation of atypical cases of HEX A deficiency for the definitive diagnosis of GM2-gangliosidosis. 2934978 1985
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		0.030 GeneticVariation disease BEFREE We propose to call these patients the AMB variant of GM2 gangliosidosis to denote the mutation in HEX A but with normal levels of HEX A and B with synthetic substrates. 6224417 1983