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: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 1
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
Q6DKK2 tetratricopeptide repeat domain 19 78 0.663 0.385 1.4E-08 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
Q9NX46 ADP-ribosylserine hydrolase 30 0.743 0.308 5.8E-04 0.100 None 0 0
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
Q9NX18 succinate dehydrogenase complex assembly factor 2 85 0.604 0.692 2.8E-06 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
Q9BUB7 transmembrane protein 70 83 0.636 0.654 2.9E-02 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
Q5THJ4 vacuolar protein sorting 13 homolog D 33 0.769 0.346 1.1E-06 0.100 None 0 0
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
Q69YN2 CWF19 like cell cycle control factor 1 51 0.691 0.346 1.4E-15 0.100 None 0 0
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 0 0
Entrez Id: 54832
Gene Symbol: VPS13C
VPS13C
Q709C8 vacuolar protein sorting 13 homolog C 71 0.653 0.346 7.6E-49 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
Q9NZK5 adenosine deaminase 2 Enzyme 165 0.545 0.846 8.1E-08 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 5230
Gene Symbol: PGK1
PGK1
P00558 phosphoglycerate kinase 1 Kinase 144 0.542 0.769 0.77 0.100 None 0 0
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 0
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
O00592 podocalyxin like 156 0.551 0.731 1.0E-03 0.100 None 0 0
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
P22309 UDP glucuronosyltransferase family 1 member A1 302 0.464 0.769 3.3E-06 0.100 None 0 0
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
Q9BX10 GTP binding protein 2 Enzyme 44 0.736 0.423 0.32 0.100 None 0 0
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD
Q8NFM7 interleukin 17 receptor D 82 0.617 0.654 1.1E-06 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
Q6XR72 solute carrier family 30 member 10 Transporter 120 0.578 0.654 0.98 0.100 None 0 0
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
Q6P5W5 solute carrier family 39 member 4 Transporter 87 0.628 0.692 3.1E-04 0.100 None 0 0