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: 81689
Gene Symbol: ISCA1
ISCA1
Q9BUE6 iron-sulfur cluster assembly 1 23 0.792 0.231 0.17 0.100 None 1.000 1 1 2017 2017
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
Q9P2Q2 FERM domain containing 4A 71 0.650 0.538 1.00 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
Q9H0W8 SMG9 nonsense mediated mRNA decay factor 48 0.729 0.346 3.5E-13 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
Q9NRR6 inositol polyphosphate-5-phosphatase E 153 0.561 0.615 3.1E-03 0.100 None 0 0
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: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Q8WVP7 limb development membrane protein 1 Receptor 98 0.619 0.308 1.3E-08 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 99 0.619 0.615 0.98 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
Q9P0N5 transmembrane protein 216 154 0.544 0.615 1.9E-03 0.100 None 0 0
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: 55165
Gene Symbol: CEP55
CEP55
Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 0.100 None 0 0
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
O43924 phosphodiesterase 6D Enzyme 79 0.623 0.577 6.4E-03 0.100 None 0 0
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
Q9NPI0 transmembrane protein 138 52 0.656 0.385 4.7E-02 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Q9UMX1 SUFU negative regulator of hedgehog signaling 272 0.493 0.769 1.00 0.100 None 0 0
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
Q9ULC3 RAB23, member RAS oncogene family 144 0.541 0.654 5.6E-03 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 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 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 173 0.559 0.846 2.6E-04 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