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: 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: 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: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 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: 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: 1063
Gene Symbol: CENPF
CENPF
P49454 centromere protein F 76 0.601 0.654 1.9E-36 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: 55165
Gene Symbol: CEP55
CEP55
Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 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: 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: 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: 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: 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: 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: 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: 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: 3166
Gene Symbol: HMX1
HMX1
Q9NP08 H6 family homeobox 1 23 0.729 0.346 0.73 0.100 None 0 0
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: 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: 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: 54539
Gene Symbol: NDUFB11
NDUFB11
Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 149 0.566 0.692 0.80 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: 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: 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: 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