Schinzel-Giedion syndrome

Summary

Schinzel-Giedion syndrome (MONDO:0010010) is a disease caused by SETBP1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: SETBP1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 92
• Phenotypes (HPO): 92

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		46	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated
Prevalence at birth	1-9 / 100 000		Europe	Validated

Signs & symptoms

Clinical features (HPO)

92 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000337	Broad forehead	Very frequent (80-99%)
HP:0000455	Broad nasal tip	Very frequent (80-99%)
HP:0002007	Frontal bossing	Very frequent (80-99%)
HP:0003196	Short nose	Very frequent (80-99%)
HP:0011800	Midface retrusion	Very frequent (80-99%)
HP:0012736	Profound global developmental delay	Very frequent (80-99%)
HP:0012758	Neurodevelopmental delay	Very frequent (80-99%)
HP:0000078	Abnormality of the genital system	Frequent (30-79%)
HP:0000126	Hydronephrosis	Frequent (30-79%)
HP:0000154	Wide mouth	Frequent (30-79%)
HP:0000158	Macroglossia	Frequent (30-79%)
HP:0000260	Wide anterior fontanel	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000329	Facial hemangioma	Frequent (30-79%)
HP:0000341	Narrow forehead	Frequent (30-79%)
HP:0000356	Abnormality of the outer ear	Frequent (30-79%)
HP:0000369	Low-set ears	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000505	Visual impairment	Frequent (30-79%)
HP:0000520	Proptosis	Frequent (30-79%)
HP:0000586	Shallow orbits	Frequent (30-79%)
HP:0000885	Broad ribs	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001531	Failure to thrive in infancy	Frequent (30-79%)
HP:0001627	Abnormal heart morphology	Frequent (30-79%)
HP:0002079	Hypoplasia of the corpus callosum	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0004554	Generalized hypertrichosis	Frequent (30-79%)
HP:0009882	Short distal phalanx of finger	Frequent (30-79%)
HP:0011039	Abnormality of the helix	Frequent (30-79%)
HP:0000168	Abnormality of the gingiva	Occasional (5-29%)
HP:0000187	Broad alveolar ridges	Occasional (5-29%)
HP:0000218	High palate	Occasional (5-29%)
HP:0000278	Retrognathia	Occasional (5-29%)
HP:0000347	Micrognathia	Occasional (5-29%)
HP:0000375	Abnormal cochlea morphology	Occasional (5-29%)
HP:0000452	Choanal stenosis	Occasional (5-29%)
HP:0000522	Alacrima	Occasional (5-29%)
HP:0000684	Delayed eruption of teeth	Occasional (5-29%)
HP:0000765	Abnormal thorax morphology	Occasional (5-29%)
HP:0000889	Abnormality of the clavicle	Occasional (5-29%)
HP:0001537	Umbilical hernia	Occasional (5-29%)
HP:0001545	Anteriorly placed anus	Occasional (5-29%)
HP:0001734	Annular pancreas	Occasional (5-29%)
HP:0001845	Overlapping toe	Occasional (5-29%)
HP:0002089	Pulmonary hypoplasia	Occasional (5-29%)
HP:0002098	Respiratory distress	Occasional (5-29%)
HP:0002120	Cerebral cortical atrophy	Occasional (5-29%)
HP:0002190	Choroid plexus cyst	Occasional (5-29%)
HP:0002251	Aganglionic megacolon	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Schinzel-Giedion syndrome
Mondo ID	MONDO:0010010
MeSH	C536632
OMIM	269150
Orphanet	798
DOID	DOID:0070509
ICD-11	1542318431
NCIT	C129308
SNOMED CT	18899000
UMLS	C0265227
MedGen	120517
GARD	0000117
MedDRA	10063540
NORD	1694
Is cancer (heuristic)	no

Also known as: Schinzel Giedion midface-retraction syndrome · Schinzel Giedion Syndrome · Schinzel Giedion syndrome · Schinzel-Giedion midface-retraction syndrome · Schinzel-Giedion syndrome · SGS

Data availability: 92 ClinVar variants · 5 GenCC gene-disease records · 7 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › Schinzel-Giedion syndrome

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, 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, Bardet-Biedl syndrome 11, 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

92 retrieved; paginated sample, class counts are floors:

20 uncertain significance, 20 conflicting classifications of pathogenicity, 18 benign/likely benign, 11 pathogenic, 11 benign, 5 pathogenic/likely pathogenic, 5 likely pathogenic, 2 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1032	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	SETBP1	Pathogenic	criteria provided, multiple submitters, no conflicts
1033	NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)	SETBP1	Pathogenic	no assertion criteria provided
1034	NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)	SETBP1	Pathogenic	criteria provided, single submitter
1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1	Pathogenic	criteria provided, multiple submitters, no conflicts
157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1	Pathogenic	criteria provided, multiple submitters, no conflicts
157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1	Pathogenic	criteria provided, multiple submitters, no conflicts
159871	NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	SETBP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1878636	NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)	SETBP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
212152	NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	SETBP1	Pathogenic	criteria provided, single submitter
2573005	NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)	SETBP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3377279	NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)	SETBP1	Pathogenic	criteria provided, single submitter
441093	NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)	SETBP1	Pathogenic	criteria provided, single submitter
4533245	NM_015559.3(SETBP1):c.712del (p.Ser238fs)	SETBP1	Pathogenic	criteria provided, single submitter
521296	NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	SETBP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
620410	NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)	SETBP1	Pathogenic	criteria provided, multiple submitters, no conflicts
1184618	NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)	SETBP1	Likely pathogenic	no assertion criteria provided
2572532	NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)	SETBP1	Likely pathogenic	criteria provided, single submitter
3780596	NM_015559.3(SETBP1):c.540+7363G>T	SETBP1	Likely pathogenic	criteria provided, single submitter
4277470	NM_015559.3(SETBP1):c.1491_1499del (p.Arg498_Pro500del)	SETBP1	Likely pathogenic	criteria provided, single submitter
988755	NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)	SETBP1	Likely pathogenic	no assertion criteria provided
1184378	NM_015559.3(SETBP1):c.165G>A (p.Met55Ile)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1199493	NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1315372	NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1388157	NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
159868	NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
159869	NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
159870	NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
159881	NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
159883	NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	SETBP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · 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
SETBP1	Definitive	Autosomal dominant	Schinzel-Giedion syndrome	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SETBP1	Orphanet:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome
SETBP1	Orphanet:798	Schinzel-Giedion 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
SETBP1	HGNC:15573	ENSG00000152217	Q9Y6X0	SET-binding protein	gencc,clinvar

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)
SETBP1	Other/Unknown	no		AT_hook_DNA-bd_motif

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
buccal mucosa cell	1
caput epididymis	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SETBP1	280	ubiquitous	marker	ventricular zone, buccal mucosa cell, caput epididymis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SETBP1	2,077

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SETBP1	Q9Y6X0	43.30

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of DNA-templated transcription	1	31.6×	0.032	SETBP1

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
SETBP1	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	SETBP1

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)
SETBP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.