BBS9-related ciliopathy

disease

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Summary

BBS9-related ciliopathy (MONDO:0700236) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	BBS9-related ciliopathy
Mondo ID	MONDO:0700236
GARD	0026385
Is cancer (heuristic)	no

Also known as: BBS9-related ciliopathy

Data availability: 7 ClinVar variants.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › ciliopathy › BBS9-related ciliopathy

Subtypes (1): Bardet-Biedl syndrome 9

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

7 retrieved; paginated sample, class counts are floors:

7 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1490103	NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)	BBS9	Uncertain significance	criteria provided, multiple submitters, no conflicts
2170236	NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)	BBS9	Uncertain significance	criteria provided, multiple submitters, no conflicts
235610	NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	BBS9	Uncertain significance	criteria provided, multiple submitters, no conflicts
3780960	NM_198428.3(BBS9):c.105T>G (p.Asn35Lys)	BBS9	Uncertain significance	criteria provided, single submitter
3780961	NM_198428.3(BBS9):c.2263G>A (p.Ala755Thr)	BBS9	Uncertain significance	criteria provided, single submitter
835777	NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)	BBS9	Uncertain significance	criteria provided, multiple submitters, no conflicts
910082	NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)	BBS9	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BBS9	Orphanet:110	Bardet-Biedl syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BBS9	HGNC:30000	ENSG00000122507	Q3SYG4	Protein PTHB1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BBS9	Protein PTHB1	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BBS9	Other/Unknown	no		PTHB1, PHTB1_N_dom, PHTB1_GAE_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BBS9	279	ubiquitous	marker	oocyte, secondary oocyte, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BBS9	132

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BBS9	Q3SYG4	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
BBSome-mediated cargo-targeting to cilium	1	496.5×	0.002	BBS9

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
protein localization to cilium	1	401.2×	0.012	BBS9
fat cell differentiation	1	181.2×	0.014	BBS9
visual perception	1	79.5×	0.017	BBS9
cilium assembly	1	73.6×	0.017	BBS9
protein transport	1	43.9×	0.023	BBS9

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BBS9	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	BBS9

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BBS9	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: BBS9