ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Liver Failure, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0162557
Disease:
Liver Failure, Acute 		0.020 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795 2020
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0162557
Disease:
Liver Failure, Acute 		0.020 GeneticVariation BEFREE The patients carrying p.R778L presented a higher rate of acute liver failure than the patients without p.R778L (9.7% vs. 4.8%). 31172689 2019