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: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.110 None 1.000 1 0 2001 2001
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.110 None 1.000 1 1 2019 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
P16499 phosphodiesterase 6A 42 0.691 0.269 6.6E-25 0.110 None 1.000 1 0 2019 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
P35913 phosphodiesterase 6B 64 0.626 0.346 2.6E-27 0.110 None 1.000 1 0 2019 2019
Entrez Id: 92840
Gene Symbol: REEP6
REEP6
Q96HR9 receptor accessory protein 6 Transporter 46 0.670 0.385 1.7E-05 0.110 None 1.000 1 1 2018 2018
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
Q86SQ7 serologically defined colon cancer antigen 8 90 0.619 0.577 1.2E-11 0.110 None 1.000 1 0 2019 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.110 None 1.000 1 0 2010 2010
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Q02846 guanylate cyclase 2D, retinal Kinase 121 0.570 0.769 6.5E-10 0.100 None 1.000 21 4 1998 2019
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
A8MTZ0 BBSome interacting protein 1 37 0.695 0.423 4.2E-03 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 0
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
O95237 lecithin retinol acyltransferase 84 0.608 0.654 2.8E-02 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
P10745 retinol binding protein 3 73 0.621 0.500 1.1E-04 0.100 None 0 0
Entrez Id: 9129
Gene Symbol: PRPF3
PRPF3
O43395 pre-mRNA processing factor 3 Nucleic acid binding 42 0.695 0.385 1.00 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: 57709
Gene Symbol: SLC7A14
SLC7A14
Q8TBB6 solute carrier family 7 member 14 Transporter 36 0.695 0.308 2.2E-02 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
Q9Y5Y5 peroxisomal biogenesis factor 16 124 0.597 0.615 8.3E-05 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
Q92620 DEAH-box helicase 38 Enzyme 39 0.711 0.346 2.1E-12 0.100 None 0 0