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: 7979
Gene Symbol: SEM1
SEM1 		P60896 SEM1 26S proteasome complex subunit 61 0.633 0.538 1.8E-02 0.170 None 1.000 7 0 1994 2017
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3 		Split-hand/foot malformation 3 13 0.780 0.115 0.050 None 1.000 5 0 1996 2007
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.020 None 1.000 2 0 2006 2010
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.020 None 1.000 2 0 1999 2017
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG 		Q9P2Y5 UV radiation resistance associated 336 0.436 0.769 0.99 0.020 None 1.000 2 0 2006 2010
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4 		Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.020 None 1.000 2 0 2006 2010
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 363 0.447 0.846 2.7E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 171157
Gene Symbol: SHFM5
SHFM5 		split hand/foot malformation (ectrodactyly) type 5 6 0.839 0.115 0.010 None 1.000 1 0 2004 2004
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9 		Q7RTU4 basic helix-loop-helix family member a9 65 0.644 0.269 0.30 0.110 None 1.000 1 0 2016 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1913
Gene Symbol: EEC1
EEC1 		ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 26 0.691 0.538 0.010 None 1.000 1 0 1993 1993
Entrez Id: 1780
Gene Symbol: DYNC1I1
DYNC1I1 		O14576 dynein cytoplasmic 1 intermediate chain 1 Cellular structure 21 0.760 0.192 1.8E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1750
Gene Symbol: DLX6
DLX6 		P56179 distal-less homeobox 6 Transcription factor 42 0.659 0.615 0.92 0.110 None 1.000 1 0 2007 2007
Entrez Id: 5905
Gene Symbol: RANGAP1
RANGAP1 		P46060 Ran GTPase activating protein 1 Enzyme modulator 49 0.617 0.538 2.6E-02 0.010 None 1.000 1 0 1999 1999
Entrez Id: 64359
Gene Symbol: NXN
NXN 		Q6DKJ4 nucleoredoxin 117 0.584 0.577 1.00 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12 		Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 8945
Gene Symbol: BTRC
BTRC 		Q9Y297 beta-transducin repeat containing E3 ubiquitin protein ligase 75 0.601 0.731 1.2E-02 0.100 None 0 0
Entrez Id: 58513
Gene Symbol: EPS15L1
EPS15L1 		Q9UBC2 epidermal growth factor receptor pathway substrate 15 like 1 Enzyme modulator 17 0.743 0.385 1.00 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX 		Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		Q2M1Z3 Rho GTPase activating protein 31 96 0.581 0.615 1.00 0.100 None 0 0
Entrez Id: 56704
Gene Symbol: JPH1
JPH1 		Q9HDC5 junctophilin 1 29 0.705 0.269 0.77 0.100 None 0 0
Entrez Id: 64423
Gene Symbol: INF2
INF2 		Q27J81 inverted formin, FH2 and WH2 domain containing 62 0.644 0.423 0.97 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		Q9H237 porcupine O-acyltransferase Enzyme 162 0.545 0.692 1.00 0.100 None 0 0
Entrez Id: 81846
Gene Symbol: SBF2
SBF2 		Q86WG5 SET binding factor 2 Enzyme 77 0.619 0.577 6.4E-10 0.100 None 0 0