Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 494 326 1983 2020
Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
annexin A5 0.458 0.769 3.8E-15
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.500 None 1.000 1 0 2011 2011
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.400 None 0.906 53 1 1987 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.360 None 1.000 6 3 2000 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.330 None 1.000 3 1 2006 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.320 None 1.000 3 0 2011 2014
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.320 None 1.000 3 0 2011 2014
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.320 None 1.000 2 0 1997 2005
Entrez Id: 191
Gene Symbol: AHCY
AHCY
adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.320 None 1.000 2 0 2013 2018
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.310 None 1.000 2 0 2012 2014
Entrez Id: 4017
Gene Symbol: LOXL2
LOXL2
lysyl oxidase like 2 0.527 0.731 3.4E-07
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 56899
Gene Symbol: ANKS1B
ANKS1B
ankyrin repeat and sterile alpha motif domain containing 1B 0.686 0.423 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1
TIMP metallopeptidase inhibitor 1 0.380 0.885 0.50
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
C-X-C motif chemokine ligand 8 0.310 0.962 2.7E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 635
Gene Symbol: BHMT
BHMT
betaine--homocysteine S-methyltransferase 0.595 0.731 3.7E-14
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
synuclein alpha 0.427 0.885 0.88
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 2
Gene Symbol: A2M
A2M
alpha-2-macroglobulin 0.529 0.769 4.5E-11
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
succinate dehydrogenase complex assembly factor 2 0.604 0.692 2.8E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 4713
Gene Symbol: NDUFB7
NDUFB7
NADH:ubiquinone oxidoreductase subunit B7 0.890 0.192 3.2E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 438
Gene Symbol: ASMT
ASMT
acetylserotonin O-methyltransferase 0.691 0.346 1.3E-20
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 5532
Gene Symbol: PPP3CB
PPP3CB
protein phosphatase 3 catalytic subunit beta 0.760 0.308 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.290 None 1.000 10 0 1993 2019