Source: ALL
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: 8431
Gene Symbol: NR0B2
NR0B2
Q15466 nuclear receptor subfamily 0 group B member 2 Nuclear receptor 251 0.474 0.808 8.3E-06 0.690 limited 1.000 9 2 2001 2020
Entrez Id: 112609
Gene Symbol: MRAP2
MRAP2
Q96G30 melanocortin 2 receptor accessory protein 2 10 0.792 0.269 2.6E-07 0.420 limited 1.000 3 0 2013 2019
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
Q9NRF2 SH2B adaptor protein 1 140 0.566 0.731 0.97 0.700 moderate 0.906 32 5 2009 2020
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 247 0.498 0.808 5.0E-08 0.700 moderate 0.786 28 5 2001 2019
Entrez Id: 1363
Gene Symbol: CPE
CPE
P16870 carboxypeptidase E 101 0.584 0.692 0.99 0.730 moderate 0.923 13 0 1991 2013
Entrez Id: 283455
Gene Symbol: KSR2
KSR2
Q6VAB6 kinase suppressor of ras 2 Kinase 27 0.743 0.231 1.00 0.340 moderate 1.000 4 0 2013 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.900 strong 0.959 97 11 1996 2020
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
P81133 SIM bHLH transcription factor 1 Transcription factor 84 0.626 0.654 1.00 0.700 strong 0.955 22 4 1998 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.660 strong 1.000 7 1 2001 2019
Entrez Id: 23040
Gene Symbol: MYT1L
MYT1L
Q9UL68 myelin transcription factor 1 like Transcription factor 46 0.659 0.462 1.00 0.440 strong 1.000 6 1 2011 2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.660 strong 0.833 6 3 2000 2013
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
Q86SQ7 serologically defined colon cancer antigen 8 90 0.619 0.577 1.2E-11 0.440 strong 1.000 4 1 2010 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.620 strong 1.000 3 0 2002 2013
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.420 strong 1.000 2 1 2007 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.420 strong 1.000 2 0 2004 2006
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.410 strong 1.000 1 0 2014 2014
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.410 strong 1.000 1 1 2014 2014
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
Q8IWS0 PHD finger protein 6 Nucleic acid binding 122 0.581 0.692 1.00 0.410 strong 1.000 1 0 2007 2007
Entrez Id: 123016
Gene Symbol: TTC8
TTC8
Q8TAM2 tetratricopeptide repeat domain 8 72 0.631 0.500 1.2E-06 0.400 strong 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.400 strong 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.400 strong 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 0.400 strong 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.400 strong 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
Q9H0F7 ADP ribosylation factor like GTPase 6 75 0.636 0.462 1.0E-02 0.400 strong 0 1
Entrez Id: 3952
Gene Symbol: LEP
LEP
P41159 leptin 931 0.349 0.846 0.46 0.700 None 0.952 794 7 1973 2020