Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 470
Gene Symbol: ATHS
ATHS 		atherosclerosis susceptibility (lipoprotein associated) 112 0.551 0.769 0.010 None 1.000 1 0 2020 2020
Entrez Id: 58163
Gene Symbol: RBPJP4
RBPJP4 		RBPJ pseudogene 4 12 0.805 0.423 0.010 None 1.000 1 0 2018 2018
Entrez Id: 60498
Gene Symbol: IGAN1
IGAN1 		IgA nephropathy 140 0.524 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 60502
Gene Symbol: CPAT1
CPAT1 		cerebral palsy, ataxic 1 34 0.674 0.654 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1636
Gene Symbol: ACE
ACE 		P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.010 None 1.000 1 0 2001 2001
Entrez Id: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.010 None 1.000 1 1 2018 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 1.000 definitive 0.980 494 326 1983 2020
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 1 2019 2019
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		Q9Y6Q2 STON1-GTF2A1L readthrough 40 0.682 0.385 1.5E-22 0.020 None 1.000 2 0 2018 2019
Entrez Id: 55226
Gene Symbol: NAT10
NAT10 		Q9H0A0 N-acetyltransferase 10 133 0.536 0.769 4.1E-22 0.010 None 1.000 1 0 2020 2020
Entrez Id: 438
Gene Symbol: ASMT
ASMT 		P46597 acetylserotonin O-methyltransferase 27 0.691 0.346 1.3E-20 0.300 None 1.000 1 0 2013 2013
Entrez Id: 2875
Gene Symbol: GPT
GPT 		P24298 glutamic--pyruvic transaminase Enzyme 511 0.403 0.923 3.6E-19 0.030 None 1.000 3 0 2007 2018
Entrez Id: 173
Gene Symbol: AFM
AFM 		P43652 afamin Transporter 86 0.590 0.731 4.3E-19 0.020 None 1.000 2 0 2018 2019
Entrez Id: 308
Gene Symbol: ANXA5
ANXA5 		P08758 annexin A5 283 0.458 0.769 3.8E-15 0.500 None 1.000 1 0 2011 2011
Entrez Id: 635
Gene Symbol: BHMT
BHMT 		Q93088 betaine--homocysteine S-methyltransferase 71 0.595 0.731 3.7E-14 0.300 None 1.000 1 0 2013 2013
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3 		P01011 serpin family A member 3 Enzyme modulator 229 0.486 0.846 8.8E-14 0.010 None < 0.001 1 0 2020 2020
Entrez Id: 250
Gene Symbol: ALPP
ALPP 		P05187 alkaline phosphatase, placental Enzyme 209 0.487 0.808 1.8E-13 0.010 None 1.000 1 0 2020 2020
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.010 None 1.000 1 0 1999 1999
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.020 None 1.000 2 0 1999 2004
Entrez Id: 11037
Gene Symbol: STON1
STON1 		Q9Y6Q2 stonin 1 Extracellular structure 27 0.729 0.308 1.5E-11 0.020 None 1.000 2 0 2018 2019
Entrez Id: 11036
Gene Symbol: GTF2A1L
GTF2A1L 		Q9UNN4 general transcription factor IIA subunit 1 like Transcription factor 37 0.678 0.385 2.8E-11 0.020 None 1.000 2 0 2018 2019
Entrez Id: 2
Gene Symbol: A2M
A2M 		P01023 alpha-2-macroglobulin Enzyme modulator 147 0.529 0.769 4.5E-11 0.300 None 1.000 1 0 2013 2013