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: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2016 2016
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: 10598
Gene Symbol: AHSA1
AHSA1
activator of HSP90 ATPase activity 1 0.396 0.923 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2016 2016
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: 173
Gene Symbol: AFM
AFM
afamin 0.590 0.731 4.3E-19
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.030 None 1.000 3 0 1987 2019
Entrez Id: 250
Gene Symbol: ALPP
ALPP
alkaline phosphatase, placental 0.487 0.808 1.8E-13
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2020 2020
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: 265
Gene Symbol: AMELX
AMELX
amelogenin X-linked 0.599 0.769 7.5E-02
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 475
Gene Symbol: ATOX1
ATOX1
antioxidant 1 copper chaperone 0.656 0.500 0.59
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.100 None 0.846 13 0 1999 2019
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: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.020 None 1.000 2 0 1999 2004
Entrez Id: 80150
Gene Symbol: ASRGL1
ASRGL1
asparaginase and isoaspartyl peptidase 1 0.494 0.808 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 470
Gene Symbol: ATHS
ATHS
atherosclerosis susceptibility (lipoprotein associated) 0.551 0.769
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2017 2017
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
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: 26033
Gene Symbol: ATRNL1
ATRNL1
attractin like 1 0.546 0.769 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 2 2014 2014
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 0.010 None 1.000 1 0 1999 1999