GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed. 27142856 2016
dbSNP: rs104894845
rs104894845
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%). 20007919 2010