Bardet-Biedl syndrome 1

disease

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Also known as Bardet-Biedl syndrome 1, modifier ofBardet-Biedl syndrome type 1BBS1

Summary

Bardet-Biedl syndrome 1 (MONDO:0008854) is a disease caused by BBS1 (GenCC Definitive), with 18 cohort genes and 1 clinical trial. The dominant Reactome pathway is BBSome-mediated cargo-targeting to cilium (11 cohort genes).

At a glance

Causal gene: BBS1 (GenCC Definitive)
Cohort genes: 18
ClinVar variants: 553
Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 1
Mondo ID	MONDO:0008854
MeSH	C537909
OMIM	209900
DOID	DOID:0110123
UMLS	C2936862
MedGen	422452
GARD	0000820
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 1 · Bardet-Biedl syndrome 1, modifier of · Bardet-Biedl syndrome type 1 · BBS1

Data availability: 553 ClinVar variants · 7 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Bardet-Biedl syndrome › Bardet-Biedl syndrome 1

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

553 retrieved; paginated sample, class counts are floors:

225 uncertain significance, 77 likely pathogenic, 57 pathogenic, 55 pathogenic/likely pathogenic, 55 conflicting classifications of pathogenicity, 35 benign, 29 likely benign, 20 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1075539	NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)	ARL6	Pathogenic	criteria provided, multiple submitters, no conflicts
2041	NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	ARL6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2042	NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	ARL6	Pathogenic	criteria provided, multiple submitters, no conflicts
2044	NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	ARL6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
438186	NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)	ARL6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
68064	NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	ARL6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
126379	NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	BBIP1	Pathogenic	no assertion criteria provided
1037244	NM_024649.5(BBS1):c.1181-9C>G	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074464	NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1074693	NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075093	NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076842	NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12144	NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
12145	NM_024649.5(BBS1):c.432+1G>A	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
12146	NM_024649.5(BBS1):c.851del (p.Tyr284fs)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1299580	NM_024649.5(BBS1):c.48-1G>A	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1324292	NM_024649.5(BBS1):c.47+1G>T	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1373905	NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1434855	NM_024649.5(BBS1):c.1564del (p.Leu522fs)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1457144	NM_024649.5(BBS1):c.1A>G (p.Met1Val)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1459324	NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1504874	NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
189103	NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
193740	NM_024649.5(BBS1):c.887del (p.Ile296fs)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
1986958	NM_024649.5(BBS1):c.2T>C (p.Met1Thr)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2030272	NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2057607	NM_024649.5(BBS1):c.3G>A (p.Met1Ile)	BBS1	Pathogenic	criteria provided, multiple submitters, no conflicts
2098720	NM_024649.5(BBS1):c.723+2T>G	BBS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · Orphanet: 24 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
BBS1	Definitive	Autosomal recessive	Bardet-Biedl syndrome 1	7
CCDC28B	No Known Disease Relationship	Autosomal recessive	Bardet-Biedl syndrome 1

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BBS1	Orphanet:110	Bardet-Biedl syndrome
BBS1	Orphanet:791	Retinitis pigmentosa
ARL6	Orphanet:110	Bardet-Biedl syndrome
ARL6	Orphanet:791	Retinitis pigmentosa
BBS7	Orphanet:110	Bardet-Biedl syndrome
BBS10	Orphanet:110	Bardet-Biedl syndrome
BBS12	Orphanet:110	Bardet-Biedl syndrome
WDPCP	Orphanet:110	Bardet-Biedl syndrome
WDPCP	Orphanet:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome
BBIP1	Orphanet:110	Bardet-Biedl syndrome
BBS9	Orphanet:110	Bardet-Biedl syndrome
IFT172	Orphanet:110	Bardet-Biedl syndrome
IFT172	Orphanet:140969	Saldino-Mainzer syndrome
IFT172	Orphanet:474	Jeune syndrome
IFT172	Orphanet:791	Retinitis pigmentosa
LZTFL1	Orphanet:110	Bardet-Biedl syndrome
NPHP1	Orphanet:110	Bardet-Biedl syndrome
NPHP1	Orphanet:220497	Joubert syndrome with renal defect
NPHP1	Orphanet:3156	Senior-Loken syndrome
NPHP1	Orphanet:93592	Juvenile nephronophthisis
BBS2	Orphanet:110	Bardet-Biedl syndrome
BBS2	Orphanet:791	Retinitis pigmentosa
BBS4	Orphanet:110	Bardet-Biedl syndrome
BBS5	Orphanet:110	Bardet-Biedl syndrome

Cohort genes → proteins

18 cohort genes, 18 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	18

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CCDC28B	HGNC:28163	ENSG00000160050	Q9BUN5	Coiled-coil domain-containing protein 28B	gencc,clinvar
BBS1	HGNC:966	ENSG00000174483	Q8NFJ9	BBSome complex member BBS1	gencc,clinvar
ARL6	HGNC:13210	ENSG00000113966	Q9H0F7	ADP-ribosylation factor-like protein 6	clinvar
BBS7	HGNC:18758	ENSG00000138686	Q8IWZ6	BBSome complex member BBS7	clinvar
PSMG2	HGNC:24929	ENSG00000128789	Q969U7	Proteasome assembly chaperone 2	clinvar
CEP76	HGNC:25727	ENSG00000101624	Q8TAP6	Centrosomal protein of 76 kDa	clinvar
BBS10	HGNC:26291	ENSG00000179941	Q8TAM1	BBSome complex assembly protein BBS10	clinvar
BBS12	HGNC:26648	ENSG00000181004	Q6ZW61	Chaperonin-containing T-complex member BBS12	clinvar
ZDHHC24	HGNC:27387	ENSG00000174165	Q6UX98	Probable palmitoyltransferase ZDHHC24	clinvar
WDPCP	HGNC:28027	ENSG00000143951	O95876	WD repeat-containing and planar cell polarity effector protein fritz homolog	clinvar
BBIP1	HGNC:28093	ENSG00000214413	A8MTZ0	BBSome-interacting protein 1	clinvar
BBS9	HGNC:30000	ENSG00000122507	Q3SYG4	Protein PTHB1	clinvar
IFT172	HGNC:30391	ENSG00000138002	Q9UG01	Intraflagellar transport protein 172 homolog	clinvar
LZTFL1	HGNC:6741	ENSG00000163818	Q9NQ48	Leucine zipper transcription factor-like protein 1	clinvar
NPHP1	HGNC:7905	ENSG00000144061	O15259	Nephrocystin-1	clinvar
BBS2	HGNC:967	ENSG00000125124	Q9BXC9	BBSome complex member BBS2	clinvar
BBS4	HGNC:969	ENSG00000140463	Q96RK4	BBSome complex member BBS4	clinvar
BBS5	HGNC:970	ENSG00000163093	Q8N3I7	BBSome complex member BBS5	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CCDC28B	Coiled-coil domain-containing protein 28B	Involved in ciliogenesis.
BBS1	BBSome complex member BBS1	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
ARL6	ADP-ribosylation factor-like protein 6	Involved in membrane protein trafficking at the base of the ciliary organelle.
BBS7	BBSome complex member BBS7	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
PSMG2	Proteasome assembly chaperone 2	Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1.
CEP76	Centrosomal protein of 76 kDa	Centrosomal protein involved in regulation of centriole duplication.
BBS10	BBSome complex assembly protein BBS10	Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis.
BBS12	Chaperonin-containing T-complex member BBS12	Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis.
ZDHHC24	Probable palmitoyltransferase ZDHHC24	Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates.
WDPCP	WD repeat-containing and planar cell polarity effector protein fritz homolog	Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements.
BBIP1	BBSome-interacting protein 1	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
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.
IFT172	Intraflagellar transport protein 172 homolog	Required for the maintenance and formation of cilia.
LZTFL1	Leucine zipper transcription factor-like protein 1	Regulates ciliary localization of the BBSome complex.
NPHP1	Nephrocystin-1	Together with BCAR1 it may play a role in the control of epithelial cell polarity.
BBS2	BBSome complex member BBS2	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
BBS4	BBSome complex member BBS4	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
BBS5	BBSome complex member BBS5	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: 1 · Difficult: 5 · Unknown: 12 · Druggable fraction: 0.06

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
Scaffold/PPI	5	4.8×	0.009
Other/Unknown	12	1.2×	0.371
Protease	1	2.0×	0.393

Per-gene assignment

Symbol	Family	Druggable?	InterPro (top 3)
CCDC28B	Other/Unknown	no	CCDC28
BBS1	Other/Unknown	no	Quinoprotein_ADH-like_sf, BBS1, BBS1_N
ARL6	Other/Unknown	no	Small_GTP-bd, Small_GTPase_ARF/SAR, Small_GTPase_ARF
BBS7	Scaffold/PPI	no	WD40/YVTN_repeat-like_dom_sf, Bardet-Biedl_syndrome_7_prot, WD40_repeat_dom_sf
PSMG2	Other/Unknown	no	Proteasome_assmbl_chp_2_euk, Proteasome_assmbl_chaperone_2, PSMG2_sf
CEP76	Protease	yes	CEP76-C2, Papain-like_cys_pep_sf, CEP76
BBS10	Other/Unknown	no	Cpn60/GroEL/TCP-1, GroEL-like_apical_dom_sf, TCP-1-like_intermed_sf
BBS12	Other/Unknown	no	Cpn60/GroEL/TCP-1, GroEL-like_apical_dom_sf, TCP-1-like_intermed_sf
ZDHHC24	Other/Unknown	no	Palmitoyltrfase_DHHC, PFA4/ZDH16/20/ERF2-like
WDPCP	Scaffold/PPI	no	WD40/YVTN_repeat-like_dom_sf, Frtz, WD40_repeat_dom_sf
BBIP1	Other/Unknown	no	BBIP10
BBS9	Other/Unknown	no	PTHB1, PHTB1_N_dom, PHTB1_GAE_dom
IFT172	Scaffold/PPI	no	WD40_rpt, TPR-like_helical_dom_sf, WD40/YVTN_repeat-like_dom_sf
LZTFL1	Other/Unknown	no	LZTFL1
NPHP1	Scaffold/PPI	no	SH3_domain, NPHP1_SH3, SH3-like_dom_sf
BBS2	Scaffold/PPI	no	WD40/YVTN_repeat-like_dom_sf, Bardet-Biedl_syndrome_2_prot, BBS2_GAE_dom
BBS4	Other/Unknown	no	TPR-like_helical_dom_sf, TPR_rpt
BBS5	Other/Unknown	no	BBL5, PH-like_dom_sf, BBS5_PH

Expression context

Cohort genes with no expression data: 0.

14 cohort genes 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)	18
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right uterine tube	5
sperm	4
bronchial epithelial cell	4
endothelial cell	3
calcaneal tendon	3
oocyte	3
secondary oocyte	3
primordial germ cell in gonad	2
olfactory segment of nasal mucosa	2
gastrocnemius	1
hindlimb stylopod muscle	1
muscle of leg	1
left ovary	1
ovary	1
Brodmann (1909) area 23	1
oviduct epithelium	1
lateral nuclear group of thalamus	1
adult organism	1
gingival epithelium	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CCDC28B	243	ubiquitous	marker	hindlimb stylopod muscle, gastrocnemius, muscle of leg
BBS1	134	ubiquitous	yes	right uterine tube, left ovary, ovary
ARL6	228	ubiquitous	marker	oviduct epithelium, Brodmann (1909) area 23, endothelial cell
BBS7	262	ubiquitous	marker	endothelial cell, calcaneal tendon, lateral nuclear group of thalamus
PSMG2	288	ubiquitous	marker	primordial germ cell in gonad, adult organism, gingival epithelium
CEP76	247	ubiquitous	yes	secondary oocyte, oocyte, sperm
BBS10	253	ubiquitous	yes	calcaneal tendon, endothelial cell, ventricular zone
BBS12	204	ubiquitous	yes	primordial germ cell in gonad, sperm, bronchial epithelial cell
ZDHHC24	232	ubiquitous	marker	parotid gland, diaphragm, triceps brachii
WDPCP	253	ubiquitous	marker	pancreatic ductal cell, kidney epithelium, mucosa of paranasal sinus
BBIP1	288	ubiquitous	marker	epithelium of nasopharynx, buccal mucosa cell, sperm
BBS9	279	ubiquitous	marker	oocyte, secondary oocyte, calcaneal tendon
IFT172	236	ubiquitous	marker	right uterine tube, bronchial epithelial cell, left testis
LZTFL1	282	ubiquitous	marker	bronchial epithelial cell, sperm, epithelium of bronchus
NPHP1	193	ubiquitous	marker	right uterine tube, bronchial epithelial cell, olfactory segment of nasal mucosa
BBS2	262	ubiquitous	marker	adrenal tissue, right adrenal gland cortex, peripheral nervous system
BBS4	278	ubiquitous	marker	right uterine tube, oocyte, secondary oocyte
BBS5	140	ubiquitous	marker	right uterine tube, male germ line stem cell (sensu Vertebrata) in testis, olfactory segment of nasal mucosa

Protein interactions among cohort

Intra-cohort edges: 63.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BBS10	3,224
BBS4	2,544
NPHP1	2,302
BBS1	2,189
IFT172	1,922
BBS2	1,824
ARL6	1,811
CEP76	1,759
BBS7	1,622
LZTFL1	1,428

Intra-cohort edges

A	B	Sources
ARL6	BBIP1	intact
ARL6	BBS1	intact, string_interaction
ARL6	BBS10	string_interaction
ARL6	BBS12	string_interaction
ARL6	BBS2	string_interaction
ARL6	BBS4	intact
ARL6	BBS5	string_interaction
ARL6	BBS7	intact, string_interaction
ARL6	BBS9	intact
ARL6	WDPCP	string_interaction
BBIP1	BBS4	intact
BBIP1	BBS5	biogrid_interaction, intact
BBIP1	BBS7	intact
BBS1	BBS10	string_interaction
BBS1	BBS12	intact, string_interaction
BBS1	BBS2	biogrid_interaction, intact, string_interaction
BBS1	BBS4	biogrid_interaction, intact, string_interaction
BBS1	BBS5	biogrid_interaction, intact, string_interaction
BBS1	BBS7	biogrid_interaction, intact, string_interaction
BBS1	BBS9	biogrid_interaction, intact
BBS1	CCDC28B	intact, string_interaction
BBS1	LZTFL1	biogrid_interaction, intact, string_interaction
BBS1	WDPCP	string_interaction
BBS10	BBS12	intact, string_interaction
BBS10	BBS2	string_interaction
BBS10	BBS4	string_interaction
BBS10	BBS5	string_interaction
BBS10	BBS7	biogrid_interaction, intact, string_interaction
BBS10	BBS9	intact
BBS10	CCDC28B	string_interaction
BBS10	LZTFL1	string_interaction
BBS10	WDPCP	string_interaction
BBS12	BBS2	intact, string_interaction
BBS12	BBS4	intact, string_interaction
BBS12	BBS5	string_interaction
BBS12	BBS7	biogrid_interaction, intact, string_interaction
BBS12	BBS9	intact
BBS12	CCDC28B	string_interaction
BBS12	LZTFL1	string_interaction
BBS12	WDPCP	string_interaction
BBS2	BBS4	biogrid_interaction, intact, string_interaction
BBS2	BBS5	biogrid_interaction, intact, string_interaction
BBS2	BBS7	biogrid_interaction, intact, string_interaction
BBS2	BBS9	biogrid_interaction, intact
BBS2	CCDC28B	intact, string_interaction
BBS2	LZTFL1	biogrid_interaction, string_interaction
BBS2	WDPCP	string_interaction
BBS4	BBS5	biogrid_interaction, intact, string_interaction
BBS4	BBS7	biogrid_interaction, intact, string_interaction
BBS4	BBS9	biogrid_interaction, intact

Structural data

PDB: 10 · AlphaFold-only: 8 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PSMG2	Q969U7	13
BBS9	Q3SYG4	2
NPHP1	O15259	2
BBS1	Q8NFJ9	1
ARL6	Q9H0F7	1
WDPCP	O95876	1
BBIP1	A8MTZ0	1
IFT172	Q9UG01	1
BBS4	Q96RK4	1
BBS5	Q8N3I7	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BBS7	Q8IWZ6	92.99
ZDHHC24	Q6UX98	89.76
BBS2	Q9BXC9	89.49
CEP76	Q8TAP6	87.18
LZTFL1	Q9NQ48	83.74
BBS12	Q6ZW61	73.92
BBS10	Q8TAM1	71.26
CCDC28B	Q9BUN5	71.15

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 21. Enrichment computed across 18 evidence-associated genes (15 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 15 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	11	364.1×	4e-27	BBS1, ARL6, BBS7, BBS10, BBS12, BBIP1, BBS9, LZTFL1 (+3 more)
Cargo trafficking to the periciliary membrane	10	165.5×	1e-20	BBS1, ARL6, BBS7, BBS10, BBS12, BBIP1, LZTFL1, BBS2 (+2 more)
Cilium Assembly	11	79.8×	2e-19	BBS1, ARL6, BBS7, CEP76, BBS10, BBS12, BBIP1, LZTFL1 (+3 more)
Organelle biogenesis and maintenance	11	48.4×	5e-17	BBS1, ARL6, BBS7, CEP76, BBS10, BBS12, BBIP1, LZTFL1 (+3 more)
Anchoring of the basal body to the plasma membrane	2	15.1×	0.032	CEP76, NPHP1
Centrosome maturation	1	16.9×	0.147	CEP76
Proteasome assembly	1	13.6×	0.147	PSMG2
Intraflagellar transport	1	13.4×	0.147	IFT172
Hedgehog ‘off’ state	1	11.9×	0.147	IFT172
Loss of Nlp from mitotic centrosomes	1	10.6×	0.147	CEP76
Loss of proteins required for interphase microtubule organization from the centrosome	1	10.6×	0.147	CEP76
AURKA Activation by TPX2	1	10.2×	0.147	CEP76
Recruitment of mitotic centrosome proteins and complexes	1	9.1×	0.147	CEP76
Regulation of PLK1 Activity at G2/M Transition	1	8.5×	0.147	CEP76
Mitotic G2-G2/M phases	1	8.5×	0.147	CEP76
G2/M Transition	1	8.5×	0.147	CEP76
Recruitment of NuMA to mitotic centrosomes	1	7.8×	0.150	CEP76
Mitotic Prometaphase	1	4.6×	0.226	CEP76
M Phase	1	4.4×	0.226	CEP76
Cell Cycle, Mitotic	1	3.2×	0.284	CEP76
Cell Cycle	1	2.4×	0.345	CEP76

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 18 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cilium assembly	11	45.0×	1e-14	CCDC28B, BBS1, ARL6, BBS7, WDPCP, BBIP1, BBS9, IFT172 (+3 more)
fat cell differentiation	7	70.5×	3e-10	BBS1, ARL6, BBS7, BBS12, BBS9, BBS2, BBS4
melanosome transport	5	212.8×	7e-10	ARL6, BBS7, BBS2, BBS4, BBS5
non-motile cilium assembly	6	96.8×	7e-10	BBS1, BBS7, BBS10, IFT172, BBS2, BBS4
visual perception	8	35.3×	7e-10	BBS1, ARL6, BBS7, BBS10, BBS9, BBS2, BBS4, BBS5
photoreceptor cell maintenance	5	99.6×	3e-08	BBS1, BBS10, BBS12, BBS2, BBS4
regulation of cilium beat frequency involved in ciliary motility	3	312.1×	2e-06	BBS1, BBS2, BBS4
protein localization to cilium	4	89.2×	2e-06	BBS1, ARL6, BBS9, BBS4
striatum development	3	187.2×	8e-06	BBS1, BBS2, BBS4
heart looping	4	59.4×	8e-06	BBS7, IFT172, BBS4, BBS5
brain morphogenesis	3	122.1×	2e-05	BBS1, BBS2, BBS4
chaperone-mediated protein complex assembly	3	117.0×	3e-05	PSMG2, BBS10, BBS12
intraciliary transport	3	93.6×	5e-05	BBS12, WDPCP, IFT172
negative regulation of appetite by leptin-mediated signaling pathway	2	468.1×	7e-05	BBS2, BBS4
adult behavior	3	78.0×	7e-05	BBS1, BBS2, BBS4
protein transport	5	12.2×	4e-04	BBS7, BBIP1, BBS9, BBS4, BBS5
hippocampus development	3	38.5×	5e-04	BBS1, BBS2, BBS4
erythrocyte homeostasis	2	144.0×	7e-04	BBIP1, BBS4
cerebral cortex development	3	34.2×	7e-04	BBS1, BBS2, BBS4
smoothened signaling pathway	3	30.2×	1e-03	BBS7, WDPCP, IFT172
ventricular system development	2	93.6×	0.001	BBS1, BBS4
eating behavior	2	66.9×	0.003	BBS12, BBIP1
B cell homeostasis	2	62.4×	0.003	BBIP1, BBS4
Golgi to plasma membrane protein transport	2	58.5×	0.003	BBS1, BBS2
positive regulation of multicellular organism growth	2	55.1×	0.004	BBS2, BBS4
intracellular protein localization	3	17.4×	0.004	BBS7, BBS10, BBS2
Wnt signaling pathway	3	16.6×	0.004	ARL6, BBIP1, BBS4
limb development	2	45.7×	0.005	BBS7, IFT172
dendrite development	2	43.5×	0.005	BBS1, BBS4
hindgut development	1	936.2×	0.005	IFT172

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 18

Druggability breadth: 1 of 18 evidence-associated genes (6%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CCDC28B	0	0
BBS1	0	0
ARL6	0	0
BBS7	0	0
PSMG2	0	0
CEP76	0	0
BBS10	0	0
BBS12	0	0
ZDHHC24	0	0
WDPCP	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PSMG2	5	Binding:5

Pharmacogenomics

Cohort genes with a PharmGKB record: 18; 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	1	CEP76
E	Difficult family or no structure, no drug	17	CCDC28B, BBS1, ARL6, BBS7, PSMG2, BBS10, BBS12, ZDHHC24, WDPCP, BBIP1 (+7 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CCDC28B	0	—
BBS1	0	—
ARL6	0	—
BBS7	0	—
PSMG2	5	—
CEP76	0	—
BBS10	0	—
BBS12	0	—
ZDHHC24	0	—
WDPCP	0	—
BBIP1	0	—
BBS9	0	—
IFT172	0	—
LZTFL1	0	—
NPHP1	0	—
BBS2	0	—
BBS4	0	—
BBS5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration

Cohort genes: CCDC28B, BBS1, ARL6, BBS7, PSMG2, CEP76, BBS10, BBS12, ZDHHC24, WDPCP, BBIP1, BBS9, IFT172, LZTFL1, NPHP1, BBS2, BBS4, BBS5