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: 4358
Gene Symbol: MPV17
MPV17
P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.100 None 0 2
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 2
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: 1123
Gene Symbol: CHN1
CHN1
P15882 chimerin 1 112 0.573 0.615 3.1E-02 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 42 0.769 0.269 6.3E-09 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
Q16720 ATPase plasma membrane Ca2+ transporting 3 Transporter 72 0.631 0.692 1.00 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
Q8TD16 BICD cargo adaptor 2 97 0.615 0.731 0.98 0.100 None 0 1
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 55967
Gene Symbol: NDUFA12
NDUFA12
Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 50 0.659 0.462 7.4E-05 0.100 None 0 0