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 0.030 None 1.000 3 0 2005 2015
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.010 None 1.000 1 0 2000 2000
Entrez Id: 7503
Gene Symbol: XIST
XIST
X inactive specific transcript 146 0.522 0.808 0.010 None 1.000 1 0 1993 1993
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 78 0.638 0.577 0.100 None 0 0
Entrez Id: 389856
Gene Symbol: USP27X
USP27X
A6NNY8 ubiquitin specific peptidase 27 X-linked 49 0.705 0.462 0.92 0.100 None 0 0
Entrez Id: 55084
Gene Symbol: SOBP
SOBP
A7XYQ1 sine oculis binding protein homolog 15 0.839 0.192 1.00 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 0.110 None 1.000 1 0 2011 2011
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: 2304
Gene Symbol: FOXE1
FOXE1
O00358 forkhead box E1 Transcription factor 102 0.573 0.731 0.79 0.100 None 0 0
Entrez Id: 2009
Gene Symbol: EML1
EML1
O00423 EMAP like 1 31 0.705 0.462 1.00 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: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 11113
Gene Symbol: CIT
CIT
O14578 citron rho-interacting serine/threonine kinase Kinase 127 0.555 0.692 1.00 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: 5264
Gene Symbol: PHYH
PHYH
O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 8487
Gene Symbol: GEMIN2
GEMIN2
O14893 gem nuclear organelle associated protein 2 Nucleic acid binding 71 0.597 0.654 1.5E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.050 None 1.000 5 1 2008 2018
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
O14949 ubiquinol-cytochrome c reductase complex III subunit VII 26 0.722 0.308 4.8E-02 0.100 None 0 0
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
O43181 NADH:ubiquinone oxidoreductase subunit S4 137 0.587 0.808 3.1E-04 0.100 None 0 0
Entrez Id: 9901
Gene Symbol: SRGAP3
SRGAP3
O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 30 0.711 0.346 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 38 0.691 0.385 1.00 0.120 None 1.000 2 0 2011 2011
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
O43379 WD repeat domain 62 83 0.597 0.615 2.4E-23 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.010 None 1.000 1 0 1997 1997