Bardet-Biedl syndrome 11

Summary

Bardet-Biedl syndrome 11 (MONDO:0014439) is a disease caused by TRIM32 (GenCC Strong), with 2 cohort genes.

At a glance

• Causal gene: TRIM32 (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 213

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 11
Mondo ID	MONDO:0014439
MeSH	C565920
OMIM	615988
DOID	DOID:0110133
UMLS	C1859569
MedGen	395295
GARD	0010210
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 11 · Bardet-Biedl syndrome caused by mutation in TRIM32 · Bardet-Biedl syndrome type 11 · BBS11 · TRIM32 Bardet-Biedl syndrome

Data availability: 213 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › Bardet-Biedl syndrome 11

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

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

213 retrieved; paginated sample, class counts are floors:

149 uncertain significance, 28 conflicting classifications of pathogenicity, 13 likely pathogenic, 8 pathogenic/likely pathogenic, 6 likely benign, 6 benign, 2 benign/likely benign, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1451474	NM_012210.4(TRIM32):c.606_607del (p.Arg203fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2780044	NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
462946	NM_012210.4(TRIM32):c.1108del (p.Met370fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
498076	NM_012210.4(TRIM32):c.691del (p.Ala231fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7350	NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	ASTN2	Pathogenic	criteria provided, multiple submitters, no conflicts
7351	NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7352	NM_012210.4(TRIM32):c.1560del (p.Cys521fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
972625	NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)	ASTN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
597209	NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)	TRIM32	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2431597	NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)	ASTN2	Likely pathogenic	criteria provided, single submitter
2434245	NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)	ASTN2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3596355	NM_012210.4(TRIM32):c.430G>T (p.Glu144Ter)	ASTN2	Likely pathogenic	criteria provided, single submitter
3596357	NM_012210.4(TRIM32):c.495del (p.Arg166fs)	ASTN2	Likely pathogenic	criteria provided, single submitter
3596363	NM_012210.4(TRIM32):c.775_794del (p.Asp259fs)	ASTN2	Likely pathogenic	criteria provided, single submitter
3596369	NM_012210.4(TRIM32):c.1012del (p.Ala338fs)	ASTN2	Likely pathogenic	criteria provided, single submitter
3596380	NM_012210.4(TRIM32):c.1824del (p.Gly607_Tyr608insTer)	ASTN2	Likely pathogenic	criteria provided, single submitter
4845925	NM_012210.4(TRIM32):c.650_657del (p.Asn217fs)	ASTN2	Likely pathogenic	criteria provided, single submitter
3596359	NM_012210.4(TRIM32):c.577_581del (p.Arg193fs)	TRIM32	Likely pathogenic	criteria provided, single submitter
3596361	NM_012210.4(TRIM32):c.697_721dup (p.Tyr241delinsCysAlaGlyCysValSerLeuTer)	TRIM32	Likely pathogenic	criteria provided, single submitter
3596372	NM_012210.4(TRIM32):c.1297_1298del (p.Val434fs)	TRIM32	Likely pathogenic	criteria provided, single submitter
3596373	NM_012210.4(TRIM32):c.1448_1449dup (p.Val484fs)	TRIM32	Likely pathogenic	criteria provided, single submitter
3596374	NM_012210.4(TRIM32):c.1481G>A (p.Trp494Ter)	TRIM32	Likely pathogenic	criteria provided, single submitter
100583	NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1029181	NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1069605	NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1135374	NM_012210.4(TRIM32):c.114C>T (p.His38=)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
195280	NM_012210.4(TRIM32):c.558G>C (p.Gln186His)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
260215	NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
260216	NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
283473	NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)	ASTN2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · Orphanet: 2 · 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
TRIM32	Strong	Autosomal recessive	Bardet-Biedl syndrome 11	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TRIM32	Orphanet:110	Bardet-Biedl syndrome
TRIM32	Orphanet:1878	TRIM32-related limb-girdle muscular dystrophy R8

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TRIM32	HGNC:16380	ENSG00000119401	Q13049	E3 ubiquitin-protein ligase TRIM32	gencc,clinvar
ASTN2	HGNC:17021	ENSG00000148219	O75129	Astrotactin-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TRIM32	E3 ubiquitin-protein ligase TRIM32	E3 ubiquitin ligase that plays a role in various biological processes including neural stem cell differentiation, innate immunity, inflammatory resonse and autophagy.
ASTN2	Astrotactin-2	Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.5

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
Complement	1	134.0×	0.015
Transcription factor	1	4.1×	0.228

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TRIM32	Transcription factor	no		Znf_B-box, NHL_repeat, Znf_RING
ASTN2	Complement	yes		MACPF, Astrotactin, FN3_sf

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gastrocnemius	1
stromal cell of endometrium	1
tibialis anterior	1
buccal mucosa cell	1
dorsal root ganglion	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TRIM32	252	ubiquitous	yes	stromal cell of endometrium, tibialis anterior, gastrocnemius
ASTN2	236	ubiquitous	marker	buccal mucosa cell, trigeminal ganglion, dorsal root ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIM32	2,322
ASTN2	1,610

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ASTN2	O75129	3
TRIM32	Q13049	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 2 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
Regulation of innate immune responses to cytosolic DNA	1	761.3×	0.003	TRIM32
Antigen processing: Ubiquitination & Proteasome degradation	1	37.2×	0.027	TRIM32

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
actin ubiquitination	1	8426.0×	0.002	TRIM32
positive regulation of interleukin-17-mediated signaling pathway	1	8426.0×	0.002	TRIM32
positive regulation of chemokine (C-C motif) ligand 20 production	1	8426.0×	0.002	TRIM32
establishment of body hair planar orientation	1	1685.2×	0.006	ASTN2
positive regulation of striated muscle cell differentiation	1	1404.3×	0.006	TRIM32
free ubiquitin chain polymerization	1	1203.7×	0.006	TRIM32
negative regulation of protein localization to cell surface	1	648.1×	0.007	ASTN2
negative regulation of toll-like receptor 4 signaling pathway	1	561.7×	0.007	TRIM32
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1	561.7×	0.007	TRIM32
negative regulation of viral transcription	1	526.6×	0.007	TRIM32
positive regulation of tumor necrosis factor-mediated signaling pathway	1	526.6×	0.007	TRIM32
neuron cell-cell adhesion	1	495.6×	0.007	ASTN2
suppression of viral release by host	1	495.6×	0.007	TRIM32
cellular response to stress	1	421.3×	0.007	TRIM32
positive regulation of proteolysis	1	401.2×	0.007	TRIM32
negative regulation of cilium assembly	1	401.2×	0.007	TRIM32
positive regulation of autophagosome assembly	1	401.2×	0.007	TRIM32
positive regulation of cell motility	1	383.0×	0.007	TRIM32
muscle cell cellular homeostasis	1	324.1×	0.007	TRIM32
response to tumor necrosis factor	1	312.1×	0.007	TRIM32
positive regulation of neurogenesis	1	290.6×	0.007	TRIM32
tissue homeostasis	1	280.9×	0.007	TRIM32
protein localization to cell surface	1	247.8×	0.008	ASTN2
negative regulation of fibroblast proliferation	1	247.8×	0.008	TRIM32
response to starvation	1	234.1×	0.008	TRIM32
axon development	1	227.7×	0.008	TRIM32
positive regulation of cell cycle	1	221.7×	0.008	TRIM32
response to UV	1	183.2×	0.009	TRIM32
cellular response to amino acid starvation	1	159.0×	0.010	TRIM32
protein K63-linked ubiquitination	1	133.8×	0.011	TRIM32

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
TRIM32	0	0
ASTN2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	1	ASTN2
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TRIM32

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TRIM32	0	—
ASTN2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.