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 1
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.010 None 1.000 1 0 2004 2004
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.080 None 1.000 8 0 2004 2015
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
O43548 transglutaminase 5 Enzyme 48 0.656 0.615 2.4E-25 0.010 None 1.000 1 0 2002 2002
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 1
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 0 1994 1994
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1
Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 22 0.722 0.577 7.2E-21 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 1
Entrez Id: 8863
Gene Symbol: PER3
PER3
P56645 period circadian regulator 3 Transcription factor 122 0.559 0.731 1.4E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
Q8TD31 coiled-coil alpha-helical rod protein 1 193 0.505 0.808 1.0E-16 0.010 None 1.000 1 0 2000 2000
Entrez Id: 8991
Gene Symbol: SELENBP1
SELENBP1
Q13228 selenium binding protein 1 Immune response 214 0.493 0.846 3.2E-16 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 1
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
P08779 keratin 16 97 0.565 0.769 1.5E-14 0.010 None 1.000 1 0 1999 1999
Entrez Id: 133482
Gene Symbol: SLCO6A1
SLCO6A1
Q86UG4 solute carrier organic anion transporter family member 6A1 Transporter 449 0.412 0.885 2.9E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 1
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.010 None < 0.001 1 0 2012 2012
Entrez Id: 5319
Gene Symbol: PLA2G1B
PLA2G1B
P04054 phospholipase A2 group IB Enzyme 268 0.468 0.846 1.0E-10 0.020 None 1.000 2 0 1996 2003
Entrez Id: 1407
Gene Symbol: CRY1
CRY1
Q16526 cryptochrome circadian regulator 1 Enzyme 91 0.585 0.769 1.7E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 489
Gene Symbol: ATP2A3
ATP2A3
Q93084 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Transporter 61 0.617 0.577 2.2E-09 0.070 None 1.000 7 0 1999 2010
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
Q3SXY8 ADP ribosylation factor like GTPase 13B 79 0.631 0.538 2.7E-09 0.100 None 0 1
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1
Q8NBL1 protein O-glucosyltransferase 1 36 0.691 0.385 1.6E-08 0.010 None 1.000 1 0 2016 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 1