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: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 1.000 2 1 2010 2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		Q96HY7 dehydrogenase E1 and transketolase domain containing 1 28 0.711 0.385 2.8E-30 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA 		P17612 protein kinase cAMP-activated catalytic subunit alpha Kinase 88 0.606 0.692 0.97 0.100 None 0 0
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2 		Q7Z4I7 LIM zinc finger domain containing 2 Cellular structure 30 0.751 0.308 5.1E-05 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 597 0.401 0.846 1.00 0.100 None 0 0
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23 		Q9NUY8 TBC1 domain family member 23 33 0.729 0.308 1.8E-05 0.100 None 0 0
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1 		Q68CQ7 glycosyltransferase 8 domain containing 1 38 0.711 0.462 1.1E-08 0.100 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-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: 55131
Gene Symbol: RBM28
RBM28 		Q9NW13 RNA binding motif protein 28 44 0.682 0.423 6.2E-12 0.100 None 0 0
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14 		Q9NWM8 FKBP prolyl isomerase 14 60 0.650 0.654 1.5E-06 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: 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: 54820
Gene Symbol: NDE1
NDE1 		Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1 		Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 50 0.659 0.462 7.4E-05 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 0
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19 		Q9HC21 solute carrier family 25 member 19 Transporter 73 0.653 0.577 0.65 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 95 0.588 0.654 1.00 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		Q13702 receptor associated protein of the synapse 121 0.593 0.731 1.5E-03 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 0