HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Cherry red spot of the macula ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		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: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 CausalMutation phenotype CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 CausalMutation phenotype CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157 1997
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 CausalMutation phenotype CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289 1992
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 Biomarker phenotype HPO
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.100 GeneticVariation phenotype CLINVAR