ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.440 Biomarker disease HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.420 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.410 Biomarker disease HPO
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.410 CausalMutation disease CLINVAR
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.130 CausalMutation disease CLINVAR
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.130 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.120 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype HPO
CUI: C0152457
Disease: Kayser-Fleischer ring
Kayser-Fleischer ring 		0.110 GeneticVariation disease CLINVAR
CUI: C0152457
Disease: Kayser-Fleischer ring
Kayser-Fleischer ring 		0.110 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 CausalMutation disease CLINVAR
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0004604
Disease: Back Pain
Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.100 Biomarker disease HPO