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: 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: 27095
Gene Symbol: TRAPPC3
TRAPPC3
O43617 trafficking protein particle complex 3 9 0.792 0.385 0.25 0.100 None 0 1
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: 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: 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: 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: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 1
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: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 1
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: 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: 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: 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: 3848
Gene Symbol: KRT1
KRT1
P04264 keratin 1 100 0.575 0.654 0.74 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.010 None 1.000 1 0 1997 1997
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 135 0.565 0.846 9.5E-03 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
P16615 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Transporter 159 0.529 0.808 1.00 1.000 limited 0.974 78 9 1999 2018
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: 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: 146
Gene Symbol: ADRA1D
ADRA1D
P25100 adrenoceptor alpha 1D G-protein coupled receptor 48 0.636 0.731 4.0E-05 0.010 None 1.000 1 0 1999 1999
Entrez Id: 27032
Gene Symbol: ATP2C1
ATP2C1
P98194 ATPase secretory pathway Ca2+ transporting 1 Transporter 45 0.663 0.423 1.00 0.080 None 0.750 8 0 2000 2017
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: 6462
Gene Symbol: SHBG
SHBG
P04278 sex hormone binding globulin 368 0.438 0.808 1.3E-06 0.010 None 1.000 1 0 2000 2000