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: 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: 139189
Gene Symbol: DGKK
DGKK 		Q5KSL6 diacylglycerol kinase kappa Enzyme 11 0.780 0.385 0.010 None 1.000 1 0 2016 2016
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: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 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: 259266
Gene Symbol: ASPM
ASPM 		Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.110 None 1.000 1 0 2016 2016
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		Q8NEM0 microcephalin 1 Nucleic acid binding 141 0.540 0.846 7.8E-30 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-29 0.120 None 1.000 2 0 2007 2018
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		Q9HC77 centromere protein J Enzyme 150 0.546 0.846 2.1E-27 0.100 None 0 0
Entrez Id: 22995
Gene Symbol: CEP152
CEP152 		O94986 centrosomal protein 152 Signaling 66 0.653 0.500 2.7E-27 0.100 None 0 0
Entrez Id: 80254
Gene Symbol: CEP63
CEP63 		Q96MT8 centrosomal protein 63 Cellular structure 44 0.666 0.500 6.2E-25 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
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: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		Q96SN8 CDK5 regulatory subunit associated protein 2 42 0.682 0.577 4.6E-23 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.130 None 1.000 3 0 1993 2015
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 9662
Gene Symbol: CEP135
CEP135 		Q66GS9 centrosomal protein 135 Enzyme modulator 31 0.695 0.615 3.6E-22 0.100 None 0 0
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 0
Entrez Id: 7173
Gene Symbol: TPO
TPO 		P07202 thyroid peroxidase Enzyme 306 0.455 0.846 1.8E-21 0.100 None 0 1
Entrez Id: 1663
Gene Symbol: DDX11
DDX11 		Q96FC9 DEAD/H-box helicase 11 Enzyme 44 0.674 0.577 2.3E-21 0.010 None 1.000 1 1 2013 2013