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: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.100 None 0 0
Entrez Id: 7428
Gene Symbol: VHL
VHL
P40337 von Hippel-Lindau tumor suppressor Enzyme 372 0.443 0.846 8.0E-02 0.100 None 0 0
Entrez Id: 760
Gene Symbol: CA2
CA2
P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.100 None 0 0
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Q9H8P0 steroid 5 alpha-reductase 3 99 0.604 0.692 2.5E-04 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5
P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.100 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
Q9Y6N9 USH1 protein network component harmonin Cellular structure 62 0.628 0.538 4.0E-18 0.100 None 0 0
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
P13611 versican Extracellular structure 205 0.497 0.808 1.00 0.100 None 0 0
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
P07339 cathepsin D Enzyme 242 0.478 0.846 9.2E-04 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
Q16678 cytochrome P450 family 1 subfamily B member 1 Enzyme 304 0.457 0.769 2.2E-05 0.100 None 0 0
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
Q86VQ0 lebercilin LCA5 53 0.674 0.269 4.1E-05 0.100 None 0 0
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
O60220 translocase of inner mitochondrial membrane 8A 200 0.510 0.846 0.65 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0 0
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
Q96EG1 arylsulfatase G Enzyme 48 0.666 0.423 6.4E-10 0.100 None 0 0
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
Q12948 forkhead box C1 Transcription factor 242 0.483 0.846 0.95 0.100 None 0 0
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 80 0.631 0.615 1.00 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: 1294
Gene Symbol: COL7A1
COL7A1
Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 0
Entrez Id: 10319
Gene Symbol: LAMC3
LAMC3
Q9Y6N6 laminin subunit gamma 3 Enzyme modulator 30 0.722 0.308 1.4E-23 0.100 None 0 0
Entrez Id: 10342
Gene Symbol: TFG
TFG
Q92734 trafficking from ER to golgi regulator 104 0.595 0.615 0.14 0.100 None 0 0