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: 105804841
Gene Symbol: ZRS
ZRS
ZPA regulatory sequence 21 0.722 0.269 0.030 None 1.000 3 0 2012 2013
Entrez Id: 57306
Gene Symbol: CUP2Q35
CUP2Q35
Syndactyly, type I 5 0.839 0.077 0.010 None 1.000 1 0 1998 1998
Entrez Id: 619407
Gene Symbol: MSSD
MSSD
syndactyly, mesoaxial synostotic, with phalangeal reduction 1 1.000 0.077 0.010 None 1.000 1 0 2014 2014
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.030 None 1.000 3 0 2005 2016
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 341208
Gene Symbol: HEPHL1
HEPHL1
Q6MZM0 hephaestin like 1 21 0.792 0.231 1.1E-34 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.100 None 0 0
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
Q2KHM9 KIAA0753 82 0.631 0.577 1.6E-28 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 1
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: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 1
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.100 None 0 0
Entrez Id: 55249
Gene Symbol: YY1AP1
YY1AP1
Q9H869 YY1 associated protein 1 Transcription factor 35 0.711 0.462 1.9E-18 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 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
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: 641
Gene Symbol: BLM
BLM
P54132 BLM RecQ like helicase 158 0.535 0.808 1.5E-15 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.010 None 1.000 1 0 2008 2008
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
Q96BN6 family with sequence similarity 149 member B1 59 0.663 0.423 2.5E-13 0.100 None 0 0
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1
Q8IWY9 codanin 1 77 0.610 0.731 1.1E-12 0.010 None 1.000 1 0 2008 2008
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
Q6NUK1 solute carrier family 25 member 24 Transporter 141 0.575 0.731 3.4E-12 0.100 None 0 0