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: 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: 114548
Gene Symbol: NLRP3
NLRP3 		Q96P20 NLR family pyrin domain containing 3 805 0.361 0.962 8.1E-04 0.110 None 1.000 1 0 2018 2018
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		Q96NL8 chromosome 8 open reading frame 37 86 0.628 0.538 2.4E-05 0.100 None 0 0
Entrez Id: 55243
Gene Symbol: KIRREL1
KIRREL1 		Q96J84 kirre like nephrin family adhesion molecule 1 14 0.760 0.346 1.00 0.020 None 1.000 2 0 2006 2018
Entrez Id: 27235
Gene Symbol: COQ2
COQ2 		Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 139 0.590 0.731 1.3E-03 0.130 None 1.000 3 0 2006 2018
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B 		Q96D53 coenzyme Q8B Kinase 23 0.722 0.423 2.8E-13 0.110 None 1.000 1 0 2013 2013
Entrez Id: 26762
Gene Symbol: HAVCR1
HAVCR1 		Q96D42 hepatitis A virus cellular receptor 1 217 0.489 0.885 8.5E-07 0.010 None 1.000 1 0 2019 2019
Entrez Id: 843
Gene Symbol: CASP10
CASP10 		Q92851 caspase 10 Enzyme 166 0.528 0.692 4.6E-12 0.100 None 0 0
Entrez Id: 3066
Gene Symbol: HDAC2
HDAC2 		Q92769 histone deacetylase 2 Epigenetic regulator 257 0.476 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		Q92736 ryanodine receptor 2 Ion channel 160 0.539 0.615 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9640
Gene Symbol: ZNF592
ZNF592 		Q92610 zinc finger protein 592 31 0.700 0.462 1.00 0.100 None 0 0
Entrez Id: 94025
Gene Symbol: MUC16
MUC16 		Q8WXI7 mucin 16, cell surface associated 236 0.479 0.808 8.3E-112 0.010 None 1.000 1 0 2007 2007
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		Q8WW38 zinc finger protein, FOG family member 2 Transcription factor 142 0.565 0.731 1.00 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133 		Q8WUM0 nucleoporin 133 50 0.678 0.577 9.3E-05 0.110 None 1.000 1 0 2019 2019
Entrez Id: 51237
Gene Symbol: MZB1
MZB1 		Q8WU39 marginal zone B and B1 cell specific protein 100 0.565 0.769 3.2E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		Q8TAM2 tetratricopeptide repeat domain 8 72 0.631 0.500 1.2E-06 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 80312
Gene Symbol: TET1
TET1 		Q8NFU7 tet methylcytosine dioxygenase 1 156 0.523 0.808 1.00 0.010 None 1.000 1 0 2018 2018
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: 79023
Gene Symbol: NUP37
NUP37 		Q8NFH4 nucleoporin 37 Transporter 24 0.736 0.423 1.1E-05 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 89 0.638 0.654 0.45 0.100 None 0 0
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1 		Q8NBU5 ATPase family AAA domain containing 1 126 0.545 0.692 1.3E-03 0.010 None 1.000 1 0 2009 2009
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9 		Q8NBP7 proprotein convertase subtilisin/kexin type 9 Enzyme 257 0.482 0.808 2.7E-17 0.060 None 1.000 6 0 2016 2019
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO 		Q8N3V7 synaptopodin Cellular structure 37 0.663 0.577 0.99 0.010 None 1.000 1 0 2007 2007
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 0