Spondyloepimetaphyseal dysplasia with multiple dislocations

Summary

Spondyloepimetaphyseal dysplasia with multiple dislocations (MONDO:0011335) is a disease caused by KIF22 (GenCC Definitive), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Europe)
• Causal gene: KIF22 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 29
• Phenotypes (HPO): 41

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

41 HPO clinical features (Orphanet curated; top 41 by frequency):

HPO ID	Term	Frequency
HP:0001382	Joint hypermobility	Very frequent (80-99%)
HP:0002652	Skeletal dysplasia	Very frequent (80-99%)
HP:0002656	Epiphyseal dysplasia	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0011800	Midface retrusion	Very frequent (80-99%)
HP:0000926	Platyspondyly	Frequent (30-79%)
HP:0001238	Slender finger	Frequent (30-79%)
HP:0001518	Small for gestational age	Frequent (30-79%)
HP:0001602	Laryngeal stenosis	Frequent (30-79%)
HP:0001832	Abnormal metatarsal morphology	Frequent (30-79%)
HP:0002651	Spondyloepimetaphyseal dysplasia	Frequent (30-79%)
HP:0002663	Delayed epiphyseal ossification	Frequent (30-79%)
HP:0002761	Generalized joint laxity	Frequent (30-79%)
HP:0002857	Genu valgum	Frequent (30-79%)
HP:0002970	Genu varum	Frequent (30-79%)
HP:0003025	Metaphyseal irregularity	Frequent (30-79%)
HP:0003088	Premature osteoarthritis	Frequent (30-79%)
HP:0006014	Abnormally shaped carpal bones	Frequent (30-79%)
HP:0006236	Slender metacarpals	Frequent (30-79%)
HP:0008755	Laryngotracheomalacia	Frequent (30-79%)
HP:0008857	Neonatal short-trunk short stature	Frequent (30-79%)
HP:0009815	Aplasia/hypoplasia of the extremities	Frequent (30-79%)
HP:0010674	Abnormality of the curvature of the vertebral column	Frequent (30-79%)
HP:0012095	Multiple joint dislocation	Frequent (30-79%)
HP:0012368	Flat face	Frequent (30-79%)
HP:0031367	Metaphyseal striations	Frequent (30-79%)
HP:0040064	Abnormality of limbs	Frequent (30-79%)
HP:0100168	Fragmented epiphyses	Frequent (30-79%)
HP:0000486	Strabismus	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0002650	Scoliosis	Occasional (5-29%)
HP:0002751	Kyphoscoliosis	Occasional (5-29%)
HP:0002808	Kyphosis	Occasional (5-29%)
HP:0002827	Hip dislocation	Occasional (5-29%)
HP:0002987	Elbow flexion contracture	Occasional (5-29%)
HP:0003048	Radial head subluxation	Occasional (5-29%)
HP:0003370	Flat capital femoral epiphysis	Occasional (5-29%)
HP:0004875	Neonatal inspiratory stridor	Occasional (5-29%)
HP:0005619	Thoracolumbar kyphosis	Occasional (5-29%)
HP:0006536	Airway obstruction	Occasional (5-29%)
HP:0030043	Hip subluxation	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spondyloepimetaphyseal dysplasia with multiple dislocations
Mondo ID	MONDO:0011335
MeSH	C535784
OMIM	603546
Orphanet	93360
DOID	DOID:0112199
NCIT	C125419
SNOMED CT	766820007
UMLS	C1863732
MedGen	350960
GARD	0009866
Is cancer (heuristic)	no

Also known as: SEMD-MD · SEMDJL2 · spondyloepimetaphyseal dysplasia with joint laxicity, Hall type · spondyloepimetaphyseal dysplasia with JOINT laxity type 2 · spondyloepimetaphyseal dysplasia with joint laxity type 2 · spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type · spondyloepimetaphyseal dysplasia with multiple dislocations Hall type · spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type · spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type

Data availability: 29 ClinVar variants · 5 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › spondyloepimetaphyseal dysplasia with multiple dislocations

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid syndrome

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

29 retrieved; paginated sample, class counts are floors:

16 uncertain significance, 3 likely pathogenic, 3 benign/likely benign, 2 benign, 2 pathogenic, 2 pathogenic/likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
2575102	NM_007317.3(KIF22):c.146G>A (p.Arg49Gln)	KIF22	Pathogenic	criteria provided, single submitter
30334	NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	KIF22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30335	NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)	KIF22	Pathogenic	criteria provided, multiple submitters, no conflicts
30336	NM_007317.3(KIF22):c.446G>T (p.Arg149Leu)	KIF22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1299611	NM_007317.3(KIF22):c.752T>C (p.Leu251Pro)	KIF22	Likely pathogenic	criteria provided, single submitter
1685360	NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys)	KIF22	Likely pathogenic	criteria provided, single submitter
30333	NM_007317.3(KIF22):c.442C>T (p.Pro148Ser)	KIF22	Likely pathogenic	criteria provided, single submitter
2330348	NM_007317.3(KIF22):c.127C>T (p.Arg43Cys)	KIF22	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1029156	NM_007317.3(KIF22):c.502T>C (p.Trp168Arg)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
1034376	NM_007317.3(KIF22):c.1647C>G (p.His549Gln)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
1034377	NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
1034378	NM_007317.3(KIF22):c.8C>T (p.Ala3Val)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
1474517	NM_007317.3(KIF22):c.641C>A (p.Pro214His)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
2498246	NM_007317.3(KIF22):c.361G>A (p.Ala121Thr)	KIF22	Uncertain significance	criteria provided, single submitter
2582410	NM_007317.3(KIF22):c.1898_1915del (p.Asp633_Glu638del)	KIF22	Uncertain significance	criteria provided, single submitter
2663884	NM_007317.3(KIF22):c.392C>G (p.Ala131Gly)	KIF22	Uncertain significance	criteria provided, single submitter
2689309	NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)	KIF22	Uncertain significance	criteria provided, single submitter
3362333	NM_007317.3(KIF22):c.1807G>C (p.Asp603His)	KIF22	Uncertain significance	criteria provided, single submitter
3367134	NM_007317.3(KIF22):c.1913A>C (p.Glu638Ala)	KIF22	Uncertain significance	criteria provided, single submitter
3891483	NM_007317.3(KIF22):c.1835C>T (p.Pro612Leu)	KIF22	Uncertain significance	criteria provided, single submitter
520925	NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
547879	NM_007317.3(KIF22):c.1424T>G (p.Val475Gly)	KIF22	Uncertain significance	criteria provided, single submitter
597025	NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)	KIF22	Uncertain significance	criteria provided, multiple submitters, no conflicts
992442	NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala)	KIF22	Uncertain significance	no assertion criteria provided
1170585	NM_007317.3(KIF22):c.1230C>T (p.Ile410=)	KIF22	Benign	criteria provided, multiple submitters, no conflicts
780181	NM_007317.3(KIF22):c.1145-6A>G	KIF22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
784332	NM_007317.3(KIF22):c.576G>C (p.Ser192=)	KIF22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
784333	NM_007317.3(KIF22):c.1737G>A (p.Gln579=)	KIF22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
803248	NM_007317.3(KIF22):c.1425G>A (p.Val475=)	KIF22	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · 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
KIF22	Definitive	Autosomal dominant	spondyloepimetaphyseal dysplasia with multiple dislocations	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIF22	Orphanet:93360	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

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
KIF22	HGNC:6391	ENSG00000079616	Q14807	Kinesin-like protein KIF22	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KIF22	Kinesin-like protein KIF22	Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis.

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)
KIF22	Other/Unknown	no		Kinesin_motor_dom, Hlx-hairpin-Hlx_DNA-bd_motif, RuvA_2-like

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
ganglionic eminence	1
right lobe of thyroid gland	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIF22	242	ubiquitous	marker	ventricular zone, ganglionic eminence, right lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIF22	2,097

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KIF22	Q14807	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. 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
Kinesins	1	178.4×	0.025	KIF22
Golgi-to-ER retrograde transport	1	132.8×	0.025	KIF22
COPI-dependent Golgi-to-ER retrograde traffic	1	110.9×	0.025	KIF22
Intra-Golgi and retrograde Golgi-to-ER traffic	1	104.8×	0.025	KIF22
MHC class II antigen presentation	1	89.2×	0.025	KIF22
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.028	KIF22
Membrane Trafficking	1	37.1×	0.035	KIF22
Hemostasis	1	36.0×	0.035	KIF22
Vesicle-mediated transport	1	34.8×	0.035	KIF22
Adaptive Immune System	1	29.8×	0.037	KIF22
Immune System	1	13.0×	0.077	KIF22

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
metaphase chromosome alignment	1	1053.2×	0.004	KIF22
sister chromatid cohesion	1	766.0×	0.004	KIF22
mitotic metaphase chromosome alignment	1	383.0×	0.005	KIF22
microtubule-based movement	1	295.6×	0.005	KIF22
mitotic cell cycle	1	133.8×	0.009	KIF22
DNA repair	1	63.8×	0.016	KIF22

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KIF22	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
KIF22	4	Binding:4

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	KIF22

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)
KIF22	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.