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: 346007
Gene Symbol: EYS
EYS
Q5T1H1 eyes shut homolog 69 0.631 0.538 3.7E-41 0.100 None 0 0
Entrez Id: 57519
Gene Symbol: STARD9
STARD9
Q9P2P6 StAR related lipid transfer domain containing 9 14 0.839 0.115 1.0E-38 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.060 None 1.000 6 0 1999 2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
Q14028 cyclic nucleotide gated channel subunit beta 1 Ion channel 65 0.628 0.538 1.8E-37 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.110 None 1.000 1 0 2018 2018
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.020 None 1.000 2 0 2011 2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.010 None 1.000 1 0 2018 2018
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: 5158
Gene Symbol: PDE6B
PDE6B
P35913 phosphodiesterase 6B 64 0.626 0.346 2.6E-27 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
Q9NZ08 endoplasmic reticulum aminopeptidase 1 Enzyme 156 0.556 0.692 2.1E-26 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.110 None 1.000 1 0 2010 2010
Entrez Id: 79585
Gene Symbol: CORO7
CORO7
P57737 coronin 7 Cellular structure 70 0.628 0.692 1.8E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
P16499 phosphodiesterase 6A 42 0.691 0.269 6.6E-25 0.100 None 0 0
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.010 None 1.000 1 0 2011 2011
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
Q49MI3 ceramide kinase like 50 0.678 0.308 9.8E-25 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: 9742
Gene Symbol: IFT140
IFT140
Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
O43490 prominin 1 Transporter 477 0.410 0.846 1.9E-22 0.110 None 1.000 1 0 2016 2016
Entrez Id: 2053
Gene Symbol: EPHX2
EPHX2
P34913 epoxide hydrolase 2 Enzyme 97 0.568 0.654 1.8E-21 0.010 None 1.000 1 0 2019 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
Q96JP9 cadherin related family member 1 48 0.670 0.308 2.8E-21 0.110 None 1.000 1 0 2012 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
Q16281 cyclic nucleotide gated channel subunit alpha 3 Ion channel 54 0.650 0.154 8.0E-20 0.100 None 0 0
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
P55268 laminin subunit beta 2 Enzyme modulator 116 0.601 0.654 2.5E-19 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC
P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.300 None 1.000 1 0 2004 2004