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: 30062
Gene Symbol: RAX
RAX 		Q9Y2V3 retina and anterior neural fold homeobox 18 0.729 0.346 0.10 0.120 None 1.000 2 0 2004 2008
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		Q13461 forkhead box E3 Transcription factor 118 0.568 0.654 0.18 0.120 None 1.000 2 0 2013 2018
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		P12644 bone morphogenetic protein 4 Signaling 423 0.422 0.808 0.96 0.110 None 1.000 1 0 2019 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP 		Q00604 norrin cystine knot growth factor NDP 142 0.566 0.692 0.65 0.110 None 1.000 1 0 2016 2016
Entrez Id: 3052
Gene Symbol: HCCS
HCCS 		P53701 holocytochrome c synthase Enzyme 135 0.559 0.731 0.89 0.110 None 1.000 1 1 2007 2007
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 55714
Gene Symbol: TENM3
TENM3 		Q9P273 teneurin transmembrane protein 3 72 0.599 0.692 1.00 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.100 None 0 1
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 0.100 None 0 0
Entrez Id: 7469
Gene Symbol: NELFA
NELFA 		Q9H3P2 negative elongation factor complex member A 82 0.619 0.615 0.13 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: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107 		Q6UX40 transmembrane protein 107 83 0.592 0.692 3.1E-08 0.100 None 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2 		Q9BPU9 B9 domain containing 2 Extracellular structure 66 0.606 0.577 5.3E-05 0.100 None 0 0
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.100 None 0 0
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 0
Entrez Id: 7837
Gene Symbol: PXDN
PXDN 		Q92626 peroxidasin Enzyme 51 0.647 0.500 2.5E-07 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		Q08AM6 VAC14 component of PIKFYVE complex Receptor 140 0.588 0.731 0.19 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 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: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.100 None 0 0