Bardet-Biedl Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0752166
Similar Terms
Downloads & Tools

Genes

88 genes associated with the disease Bardet-Biedl Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
ALMS1 Alstrom syndrome protein 1
ARL6 ADP-ribosylation factor-like 6
ASTN2 astrotactin 2
AZIN1 antizyme inhibitor 1
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
C8ORF37 chromosome 8 open reading frame 37
CCDC28B coiled-coil domain containing 28B
CEP131 centrosomal protein 131kDa
CEP164 centrosomal protein 164kDa
CEP19 centrosomal protein 19kDa
CEP290 centrosomal protein 290kDa
EHD1 EH-domain containing 1
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FEM1B fem-1 homolog b (C. elegans)
FEZ1 fasciculation and elongation protein zeta 1 (zygin I)
GFAP glial fibrillary acidic protein
GLIS2 GLIS family zinc finger 2
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
IL18 interleukin 18
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
KIF2A kinesin heavy chain member 2A
KIF7 kinesin family member 7
KIFC3 kinesin family member C3
LEP leptin
LPO lactoperoxidase
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MARVELD2 MARVEL domain containing 2
MCHR1 melanin-concentrating hormone receptor 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MYH14 myosin, heavy chain 14, non-muscle
MYO3B myosin IIIB
MYO7A myosin VIIA
MYO9A myosin IXA
NDN necdin, melanoma antigen (MAGE) family member
NMB neuromedin B
NPHP1 nephronophthisis 1 (juvenile)
NPY neuropeptide Y
NPY2R neuropeptide Y receptor Y2
OFD1 oral-facial-digital syndrome 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PCM1 pericentriolar material 1
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PECAM1 platelet/endothelial cell adhesion molecule 1
PIGX phosphatidylinositol glycan anchor biosynthesis, class X
PLLP plasmolipin
RAB8A RAB8A, member RAS oncogene family
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RCVRN recoverin
RFX1 regulatory factor X, 1 (influences HLA class II expression)
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RTEL1 regulator of telomere elongation helicase 1
SCAPER S-phase cyclin A-associated protein in the ER
SDCCAG8 serologically defined colon cancer antigen 8
STOML3 stomatin (EPB72)-like 3
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3
SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4
TBC1D32 TBC1 domain family, member 32
TMEM67 transmembrane protein 67
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TRAPPC3 trafficking protein particle complex 3
TRIM32 tripartite motif containing 32
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TTC8 tetratricopeptide repeat domain 8
USP35 ubiquitin specific peptidase 35
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector
ZDHHC24 zinc finger, DHHC-type containing 24
ZNF645 zinc finger protein 645