bardet-biedl syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (Human Disease Ontology, DOID_1935)
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Genes

160 genes co-occuring with the disease bardet-biedl syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BBS4 Bardet-Biedl syndrome 4 2.95262
BBS1 Bardet-Biedl syndrome 1 2.90704
BBS2 Bardet-Biedl syndrome 2 2.70867
ARL6 ADP-ribosylation factor-like 6 2.53746
BBS7 Bardet-Biedl syndrome 7 2.50124
BBS5 Bardet-Biedl syndrome 5 2.44394
BBS10 Bardet-Biedl syndrome 10 2.40209
BBS12 Bardet-Biedl syndrome 12 2.36905
TTC8 tetratricopeptide repeat domain 8 2.33084
MKKS McKusick-Kaufman syndrome 2.30914
CCDC28B coiled-coil domain containing 28B 2.09242
BBS9 Bardet-Biedl syndrome 9 1.85182
CEP290 centrosomal protein 290kDa 1.81465
TRIM32 tripartite motif containing 32 1.75369
MKS1 Meckel syndrome, type 1 1.71226
IFT54 intraflagellar transport 54 1.63859
LZTFL1 leucine zipper transcription factor-like 1 1.6086
IFT27 intraflagellar transport 27 1.56933
RAB8A RAB8A, member RAS oncogene family 1.55912
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 1.54539
ALMS1 Alstrom syndrome protein 1 1.46803
SDCCAG8 serologically defined colon cancer antigen 8 1.41446
CC2D2B coiled-coil and C2 domain containing 2B 1.34025
DRC7 dynein regulatory complex subunit 7 1.34025
ISLR immunoglobulin superfamily containing leucine-rich repeat 1.30838
WDR19 WD repeat domain 19 1.28479
TRAPPC3 trafficking protein particle complex 3 1.26603
IFT22 intraflagellar transport 22 1.24558
ARL13B ADP-ribosylation factor-like 13B 1.23733
CEP131 centrosomal protein 131kDa 1.23516
STOML3 stomatin (EPB72)-like 3 1.23386
TRAPPC8 trafficking protein particle complex 8 1.20959
WDPCP WD repeat containing planar cell polarity effector 1.17765
APOPT1 apoptogenic 1, mitochondrial 1.17164
KIF3A kinesin family member 3A 1.16563
TTC21B tetratricopeptide repeat domain 21B 1.16563
CEP70 centrosomal protein 70kDa 1.15752
KIFC3 kinesin family member C3 1.1422
IFT46 intraflagellar transport 46 1.10258
MCHR1 melanin-concentrating hormone receptor 1 1.06816
INVS inversin 1.06228
AHI1 Abelson helper integration site 1 1.0585
MYO3B myosin IIIB 1.05681
CEP76 centrosomal protein 76kDa 1.05639
C2CD3 C2 calcium-dependent domain containing 3 1.04335
PLLP plasmolipin 1.03746
OPN1SW opsin 1 (cone pigments), short-wave-sensitive 1.00414
SSTR3 somatostatin receptor 3 1.00246
IFT88 intraflagellar transport 88 1.00246
SMO smoothened, frizzled class receptor 0.990644
PCM1 pericentriolar material 1 0.948269
ARL3 ADP-ribosylation factor-like 3 0.945354
SPATA4 spermatogenesis associated 4 0.930828
CC2D2A coiled-coil and C2 domain containing 2A 0.929173
NPHP1 nephronophthisis 1 (juvenile) 0.924626
NPHP4 nephronophthisis 4 0.922561
FEM1B fem-1 homolog b (C. elegans) 0.872872
BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 0.860999
TMEM67 transmembrane protein 67 0.840934
CEP164 centrosomal protein 164kDa 0.816745
IFT140 intraflagellar transport 140 0.813052
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.805667
GLOD4 glyoxalase domain containing 4 0.801564
MYO9A myosin IXA 0.791721
EXOC7 exocyst complex component 7 0.790492
PKD2 polycystic kidney disease 2 (autosomal dominant) 0.776159
NPHP3 nephronophthisis 3 (adolescent) 0.771252
MC4R melanocortin 4 receptor 0.767576
OFD1 oral-facial-digital syndrome 1 0.760639
PKD1 polycystic kidney disease 1 (autosomal dominant) 0.752898
RBM4 RNA binding motif protein 4 0.744766
MYO3A myosin IIIA 0.730166
IFT57 intraflagellar transport 57 0.728952
NXNL1 nucleoredoxin-like 1 0.728143
GLIS2 GLIS family zinc finger 2 0.716425
RPGRIP1L RPGRIP1-like 0.691495
MID1 midline 1 0.676706
RFX1 regulatory factor X, 1 (influences HLA class II expression) 0.672722
IFT80 intraflagellar transport 80 0.669936
CNTLN centlein, centrosomal protein 0.654858
PRICKLE2 prickle homolog 2 (Drosophila) 0.653276
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) 0.639463
SHH sonic hedgehog 0.636315
NPY2R neuropeptide Y receptor Y2 0.626495
ARF4 ADP-ribosylation factor 4 0.623751
TMEM216 transmembrane protein 216 0.623359
ARL2 ADP-ribosylation factor-like 2 0.622967
RNF2 ring finger protein 2 0.618268
MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 0.613574
EHD1 EH-domain containing 1 0.612011
RPGR retinitis pigmentosa GTPase regulator 0.61162
HYDIN HYDIN, axonemal central pair apparatus protein 0.610057
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0.606543
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) 0.604981
LEP leptin 0.590169
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.58005
NPY5R neuropeptide Y receptor Y5 0.565666
USH1C Usher syndrome 1C (autosomal recessive, severe) 0.556732
ELSPBP1 epididymal sperm binding protein 1 0.555568
VIPR2 vasoactive intestinal peptide receptor 2 0.549747
RHO rhodopsin 0.540829
LEPR leptin receptor 0.535022
SIM1 single-minded family bHLH transcription factor 1 0.512648
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.509192
PARK2 parkin RBR E3 ubiquitin protein ligase 0.508424
PEX2 peroxisomal biogenesis factor 2 0.480186
VANGL2 VANGL planar cell polarity protein 2 0.476772
USH1G Usher syndrome 1G (autosomal recessive) 0.468441
RAB23 RAB23, member RAS oncogene family 0.468063
ZP2 zona pellucida glycoprotein 2 (sperm receptor) 0.458996
DFNB31 deafness, autosomal recessive 31 0.450701
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.435275
EVC2 Ellis van Creveld syndrome 2 0.433772
MYO7A myosin VIIA 0.427765
ADCY3 adenylate cyclase 3 0.407172
NXN nucleoredoxin 0.407172
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 0.388166
NMB neuromedin B 0.385193
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 0.383708
CSPG4 chondroitin sulfate proteoglycan 4 0.379997
CD207 CD207 molecule, langerin 0.374068
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.354131
ALDOB aldolase B, fructose-bisphosphate 0.346777
ZMYND10 zinc finger, MYND-type containing 10 0.344574
PYGM phosphorylase, glycogen, muscle 0.34384
EDN2 endothelin 2 0.339806
MYO5A myosin VA (heavy chain 12, myoxin) 0.334681
ASL argininosuccinate lyase 0.311014
NEO1 neogenin 1 0.306672
FLOT1 flotillin 1 0.300533
PCNT pericentrin 0.295132
EVC Ellis van Creveld protein 0.292616
AQP2 aquaporin 2 (collecting duct) 0.291898
PTCH1 patched 1 0.290103
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 0.270464
TSG101 tumor susceptibility 101 0.268332
PCDH15 protocadherin-related 15 0.261599
SAR1A secretion associated, Ras related GTPase 1A 0.261245
RAP2B RAP2B, member of RAS oncogene family 0.258064
RAB1B RAB1B, member RAS oncogene family 0.254536
KIF5B kinesin family member 5B 0.247852
ARF3 ADP-ribosylation factor 3 0.242595
CDH23 cadherin-related 23 0.239799
DVL1 dishevelled segment polarity protein 1 0.238752
NDN necdin, melanoma antigen (MAGE) family member 0.235268
ZNF77 zinc finger protein 77 0.228333
EPAS1 endothelial PAS domain protein 1 0.227988
ATXN7 ataxin 7 0.215992
PDCL phosducin-like 0.208245
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.19742
GLI1 GLI family zinc finger 1 0.187113
RCVRN recoverin 0.184424
DCC DCC netrin 1 receptor 0.180084
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.177029
DISC1 disrupted in schizophrenia 1 0.171036
ASPA aspartoacylase 0.169571
OCRL oculocerebrorenal syndrome of Lowe 0.167224
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.164149
POMC proopiomelanocortin 0.163938
NPS neuropeptide S 0.158778