ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Neurologic Symptoms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0235031
Disease:
Neurologic Symptoms 		0.010 GeneticVariation BEFREE In H1069Q homozygotes symptoms started later (21.3+/-7.2 years) than in H1069Q compound heterozygotes (14.6+/-5.8, P<0.001) or H1069Q negatives (10+/-4.4, P<0.001), and they had more frequently neurologic symptoms (93 vs. 47%, P<0.001) and Kayser-Fleischer rings (82 vs. 51%, P<0.001). 11690702 2001