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: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 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 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.020 None 1.000 2 1 2019 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.100 None 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 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: 2260
Gene Symbol: FGFR1
FGFR1
P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.100 None 0 0
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: 1349
Gene Symbol: COX7B
COX7B
P24311 cytochrome c oxidase subunit 7B 104 0.595 0.654 0.67 0.100 None 0 0
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
P32243 orthodenticle homeobox 2 Transcription factor 200 0.514 0.808 0.92 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
P48165 gap junction protein alpha 8 Cell-cell junction 82 0.587 0.577 2.2E-03 0.020 None 1.000 2 0 2016 2018
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: 1063
Gene Symbol: CENPF
CENPF
P49454 centromere protein F 76 0.601 0.654 1.9E-36 0.100 None 0 0
Entrez Id: 414
Gene Symbol: ARSD
ARSD
P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1946
Gene Symbol: EFNA5
EFNA5
P52803 ephrin A5 Signaling 66 0.615 0.654 0.96 0.010 None 1.000 1 0 2015 2015
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: 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: 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: 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: 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: 55165
Gene Symbol: CEP55
CEP55
Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 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: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
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
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
Q6UX40 transmembrane protein 107 83 0.592 0.692 3.1E-08 0.100 None 0 0