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: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 78 0.638 0.577 0.100 None 0 0
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 157 0.544 0.731 0.94 0.100 None 0 0
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
A0A140G945 P02489 crystallin alpha A 40 0.653 0.385 0.17 0.100 None 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 94 0.590 0.692 1.6E-34 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 78 0.638 0.500 4.5E-17 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.100 None 0 0
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 85 0.636 0.538 0.17 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
O00429 dynamin 1 like Enzyme modulator 273 0.475 0.808 5.7E-04 0.100 None 0 0
Entrez Id: 10733
Gene Symbol: PLK4
PLK4
O00444 polo like kinase 4 Kinase 135 0.551 0.731 7.1E-06 0.100 None 0 0
Entrez Id: 4697
Gene Symbol: NDUFA4
NDUFA4
O00483 NDUFA4 mitochondrial complex associated Enzyme 41 0.695 0.462 2.4E-02 0.100 None 0 0
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
O00548 delta like canonical Notch ligand 1 212 0.492 0.808 1.00 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 3
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.100 None 0 0
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
O14640 dishevelled segment polarity protein 1 Signaling 181 0.531 0.769 3.7E-06 0.100 None 0 0
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 0 0
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 154 0.558 0.692 0.99 0.100 None 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
O14807 muscle RAS oncogene homolog Enzyme modulator 113 0.590 0.731 0.92 0.100 None 0 0
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
O14810 complexin 1 138 0.576 0.654 0.82 0.100 None 0 0
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
O14813 paired like homeobox 2A 30 0.700 0.346 0.49 0.020 None 1.000 2 0 2004 2006