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: 100653365
Gene Symbol: BED
BED 		Bornholm eye disease 24 0.729 0.308 0.020 None 1.000 2 0 2019 2020
Entrez Id: 58163
Gene Symbol: RBPJP4
RBPJP4 		RBPJ pseudogene 4 12 0.805 0.423 0.020 None 1.000 2 0 2018 2018
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12 		MT-CO2 pseudogene 12 703 0.368 0.962 0.010 None 1.000 1 0 2020 2020
Entrez Id: 110806262
Gene Symbol: LOC110806262
LOC110806262 		solute carrier family 6 member 4 gene promoter 63 0.626 0.423 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT 		SOX2 overlapping transcript 77 0.597 0.615 0.100 None 1.000 1 1 2014 2014
Entrez Id: 4513
Gene Symbol: COX2
COX2 		P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5182
Gene Symbol: PEPB
PEPB 		peptidase B 1 1.000 0.038 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8213
Gene Symbol: BAS
BAS 		Beta-adrenergic stimulation, response to 29 0.711 0.346 0.010 None 1.000 1 0 2017 2017
Entrez Id: 65065
Gene Symbol: NBEAL1
NBEAL1 		Q6ZS30 neurobeachin like 1 60 0.638 0.692 5.1E-33 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27255
Gene Symbol: CNTN6
CNTN6 		Q9UQ52 contactin 6 Receptor 36 0.678 0.462 9.0E-31 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		P01130 low density lipoprotein receptor 336 0.449 0.885 9.8E-24 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2053
Gene Symbol: EPHX2
EPHX2 		P34913 epoxide hydrolase 2 Enzyme 97 0.568 0.654 1.8E-21 0.030 None 1.000 3 0 2014 2017
Entrez Id: 6570
Gene Symbol: SLC18A1
SLC18A1 		P54219 solute carrier family 18 member A1 Transporter 45 0.647 0.462 2.8E-21 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2875
Gene Symbol: GPT
GPT 		P24298 glutamic--pyruvic transaminase Enzyme 511 0.403 0.923 3.6E-19 0.010 None 1.000 1 0 2020 2020
Entrez Id: 11169
Gene Symbol: WDHD1
WDHD1 		O75717 WD repeat and HMG-box DNA binding protein 1 Nucleic acid binding 161 0.529 0.846 4.4E-18 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 338
Gene Symbol: APOB
APOB 		P04114 apolipoprotein B 339 0.453 0.808 1.9E-16 0.020 None 1.000 2 0 2019 2019
Entrez Id: 80321
Gene Symbol: CEP70
CEP70 		Q8NHQ1 centrosomal protein 70 20 0.743 0.462 4.6E-15 0.010 None 1.000 1 0 2020 2020
Entrez Id: 55790
Gene Symbol: CSGALNACT1
CSGALNACT1 		Q8TDX6 chondroitin sulfate N-acetylgalactosaminyltransferase 1 Enzyme 28 0.716 0.423 9.3E-14 0.010 None 1.000 1 1 2018 2018
Entrez Id: 27329
Gene Symbol: ANGPTL3
ANGPTL3 		Q9Y5C1 angiopoietin like 3 Signaling 81 0.584 0.577 1.6E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 55 0.659 0.577 1.2E-12 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.050 None 1.000 5 0 2013 2019
Entrez Id: 3855
Gene Symbol: KRT7
KRT7 		P08729 keratin 7 287 0.463 0.808 3.1E-12 0.040 None 1.000 4 0 2017 2019