Disease table of BARDET-BIEDL SYNDROME OMIM ID: PS209900
Gene-disease associations table
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Gene Associated with BARDET-BIEDL SYNDROME in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases ARL6 ClinVar, OMIM, HUMSAVAR HGNC link 3q11.2 2 PS209900 , PS268000 BBIP1 ClinVar, OMIM HGNC link 10q25.2 1 PS209900 BBS1 ClinVar, OMIM, HUMSAVAR HGNC link 11q13.2 1 PS209900 BBS10 ClinVar, OMIM, HUMSAVAR HGNC link 12q21.2 1 PS209900 BBS12 ClinVar, OMIM, HUMSAVAR HGNC link 4q27 1 PS209900 BBS2 ClinVar, OMIM, HUMSAVAR HGNC link 16q13 2 PS209900 , PS268000 BBS4 ClinVar, OMIM, HUMSAVAR HGNC link 15q24.1 1 PS209900 BBS5 ClinVar, OMIM, HUMSAVAR HGNC link 2q31.1 1 PS209900 BBS7 ClinVar, OMIM, HUMSAVAR HGNC link 4q27 1 PS209900 BBS9 ClinVar, OMIM, HUMSAVAR HGNC link 7p14.3 1 PS209900
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
By band
By region
By arm
By chromosome
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from STRING
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - molecular function annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment