Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.700 None 0.974 2 0 1966 2020
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.640 strong 1.000 1 0 2010 2019
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.420 None 1.000 1 0 2014 2019
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
chromosome 8 open reading frame 37 0.628 0.538 2.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.320 None 1.000 1 0 2016 2016
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.330 None 1.000 1 0 2015 2019
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.572 0.731 1.2E-17
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.320 None 1.000 1 0 2014 2017
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.640 None 1.000 1 0 2012 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.740 None 1.000 1 0 2004 2012
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
BBSome interacting protein 1 0.695 0.423 4.2E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.610 None 1.000 1 0 2013 2014