Gene table of BBS10 : Bardet-Biedl syndrome 10

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BBS10	OMIM link	Number of associated genes	genes
PS209900	BARDET-BIEDL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	23	ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cargo trafficking to the periciliary membrane	R-HSA-5620920	7.31
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
BBSome-mediated cargo-targeting to cilium	R-HSA-5620922	8.46
Assembly of the primary cilium	R-HSA-5617833	5.44

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
repressing transcription factor binding	GO:0070491	5.71
ATP binding	GO:0005524	2.43
transcription factor binding	GO:0008134	3.46
small molecule binding	GO:0036094	1.89
RNA polymerase II repressing transcription factor binding	GO:0001103	6.44
RNA polymerase II transcription factor binding	GO:0001085	5.08
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19