HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Cherry red spot of the macula ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906309
rs387906309
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C2216370
Disease:
Cherry red spot of the macula 		GGATA 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
dbSNP: rs387906309
rs387906309
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C2216370
Disease:
Cherry red spot of the macula 		GGATA 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624 2014
dbSNP: rs387906309
rs387906309
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C2216370
Disease:
Cherry red spot of the macula 		GGATA 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012