Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Summary

Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MONDO:0007918) is a disease caused by KIF11 (GenCC Definitive), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: KIF11 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 125
• Phenotypes (HPO): 67

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000478	Abnormality of the eye	Very frequent (80-99%)
HP:0000504	Abnormality of vision	Very frequent (80-99%)
HP:0001004	Lymphedema	Very frequent (80-99%)
HP:0000545	Myopia	Frequent (30-79%)
HP:0000969	Edema	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0001328	Specific learning disability	Frequent (30-79%)
HP:0001595	Abnormality of the hair	Frequent (30-79%)
HP:0001820	Leukonychia	Frequent (30-79%)
HP:0007703	Abnormality of retinal pigmentation	Frequent (30-79%)
HP:0008388	Abnormal toenail morphology	Frequent (30-79%)
HP:0100644	Melanonychia	Frequent (30-79%)
HP:0007731	Chorioretinal dysplasia	Occasional (5-29%)
HP:0007973	Retinal dysplasia	Occasional (5-29%)
HP:0009891	Underdeveloped supraorbital ridges	Occasional (5-29%)
HP:0010310	Chylothorax	Occasional (5-29%)
HP:0012471	Thick vermilion border	Occasional (5-29%)
HP:0012490	Panniculitis	Occasional (5-29%)
HP:0040189	Scaling skin	Occasional (5-29%)
HP:0100658	Cellulitis	Occasional (5-29%)
HP:0100758	Gangrene	Occasional (5-29%)
HP:0200042	Skin ulcer	Occasional (5-29%)
HP:0000286	Epicanthus	Occasional (5-29%)
HP:0000293	Full cheeks	Occasional (5-29%)
HP:0000307	Pointed chin	Occasional (5-29%)
HP:0000340	Sloping forehead	Occasional (5-29%)
HP:0000343	Long philtrum	Occasional (5-29%)
HP:0000411	Protruding ear	Occasional (5-29%)
HP:0000431	Wide nasal bridge	Occasional (5-29%)
HP:0000445	Wide nose	Occasional (5-29%)
HP:0000463	Anteverted nares	Occasional (5-29%)
HP:0000488	Retinopathy	Occasional (5-29%)
HP:0000492	Abnormal eyelid morphology	Occasional (5-29%)
HP:0000499	Abnormal eyelash morphology	Occasional (5-29%)
HP:0000501	Glaucoma	Occasional (5-29%)
HP:0000508	Ptosis	Occasional (5-29%)
HP:0000518	Cataract	Occasional (5-29%)
HP:0000528	Anophthalmia	Occasional (5-29%)
HP:0000541	Retinal detachment	Occasional (5-29%)
HP:0000556	Retinal dystrophy	Occasional (5-29%)
HP:0000568	Microphthalmia	Occasional (5-29%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000582	Upslanted palpebral fissure	Occasional (5-29%)
HP:0000587	Abnormal optic nerve morphology	Occasional (5-29%)
HP:0000614	Abnormal nasolacrimal system morphology	Occasional (5-29%)
HP:0000618	Blindness	Occasional (5-29%)
HP:0000646	Amblyopia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Mondo ID	MONDO:0007918
MeSH	C537711
OMIM	152950
Orphanet	2526
DOID	DOID:0060349
UMLS	C1835265
MedGen	320559
GARD	0003622
Is cancer (heuristic)	no

Also known as: KIF11 disease · KIF11-associated disorder · lymphedema, microcephaly and chorioretinopathy syndrome · MCLMR · microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant · microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability · microcephaly with or without chorioretinopathy, lymphedema, or mental retardation · microcephaly, lymphedema, chorioretinal dysplasia syndrome · MLCRD · MLCRD syndrome

Data availability: 125 ClinVar variants · 6 GenCC gene-disease records.

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 › microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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, 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, spondyloepimetaphyseal dysplasia with multiple dislocations, 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

125 retrieved; paginated sample, class counts are floors:

41 pathogenic, 36 likely pathogenic, 28 uncertain significance, 10 conflicting classifications of pathogenicity, 6 pathogenic/likely pathogenic, 2 benign/likely benign, 1 likely benign, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1029854	NM_004523.4(KIF11):c.2161-1G>A	KIF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070069	NM_004523.4(KIF11):c.157C>T (p.Arg53Ter)	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
1075991	NM_004523.4(KIF11):c.934C>T (p.Arg312Ter)	KIF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1299334	NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del	KIF11	Pathogenic	criteria provided, single submitter
1679262	NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs)	KIF11	Pathogenic	criteria provided, single submitter
1687208	NM_004523.4(KIF11):c.2304_2305del (p.His768fs)	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
1687289	NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer)	KIF11	Pathogenic	criteria provided, single submitter
1699270	NM_004523.4(KIF11):c.2771-1G>C	KIF11	Pathogenic	criteria provided, single submitter
1709900	NM_004523.4(KIF11):c.2049dup (p.Asn684Ter)	KIF11	Pathogenic	criteria provided, single submitter
1803208	NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)	KIF11	Pathogenic	criteria provided, single submitter
1803988	NM_004523.4(KIF11):c.945_946del (p.Lys315fs)	KIF11	Pathogenic	criteria provided, single submitter
1805660	NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)	KIF11	Pathogenic	criteria provided, single submitter
183016	NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs)	KIF11	Pathogenic	no assertion criteria provided
183017	NM_004523.4(KIF11):c.790-1G>A	KIF11	Pathogenic	no assertion criteria provided
192300	NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter)	KIF11	Pathogenic	no assertion criteria provided
192301	NM_004523.4(KIF11):c.790-1G>T	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
211271	NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)	KIF11	Pathogenic	criteria provided, single submitter
211274	NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
211275	NM_004523.4(KIF11):c.699-7_705del	KIF11	Pathogenic	criteria provided, single submitter
2500888	NM_004523.4(KIF11):c.2267+1G>A	KIF11	Pathogenic	criteria provided, single submitter
2691882	NM_004523.4(KIF11):c.574-2A>G	KIF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29768	NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter)	KIF11	Pathogenic	no assertion criteria provided
29769	NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs)	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
29771	NM_004523.4(KIF11):c.1592del (p.Gln531fs)	KIF11	Pathogenic	no assertion criteria provided
29772	NM_004523.4(KIF11):c.2547+2T>C	KIF11	Pathogenic	no assertion criteria provided
3382091	NM_004523.4(KIF11):c.634C>T (p.Gln212Ter)	KIF11	Pathogenic	criteria provided, single submitter
369969	NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter)	KIF11	Pathogenic	no assertion criteria provided
392999	NM_004523.4(KIF11):c.77+1G>A	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts
4081885	NM_004523.4(KIF11):c.1864C>T (p.Gln622Ter)	KIF11	Pathogenic	no assertion criteria provided
424002	NM_004523.4(KIF11):c.247C>T (p.Arg83Ter)	KIF11	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · 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
KIF11	Definitive	Autosomal dominant	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIF11	Orphanet:2526	Microcephaly-lymphedema-chorioretinopathy 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
KIF11	HGNC:6388	ENSG00000138160	P52732	Kinesin-like protein KIF11	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KIF11	Kinesin-like protein KIF11	Motor protein required for establishing a bipolar spindle and thus contributing to chromosome congression during mitosis.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KIF11	Enzyme (other)	yes	5.6.1.3	Kinesin_motor_dom, Kinesin_motor_CS, Kinesin-assoc_MT-bd_dom

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

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

Top tissues across cohort

Tissue	Cohort genes
embryo	1
ganglionic eminence	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIF11	205	ubiquitous	marker	ventricular zone, ganglionic eminence, embryo

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIF11	3,788

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KIF11	P52732	62

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	KIF11
Golgi-to-ER retrograde transport	1	132.8×	0.025	KIF11
COPI-dependent Golgi-to-ER retrograde traffic	1	110.9×	0.025	KIF11
Intra-Golgi and retrograde Golgi-to-ER traffic	1	104.8×	0.025	KIF11
MHC class II antigen presentation	1	89.2×	0.025	KIF11
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.028	KIF11
Membrane Trafficking	1	37.1×	0.035	KIF11
Hemostasis	1	36.0×	0.035	KIF11
Vesicle-mediated transport	1	34.8×	0.035	KIF11
Adaptive Immune System	1	29.8×	0.037	KIF11
Immune System	1	13.0×	0.077	KIF11

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
spindle elongation	1	5617.3×	0.001	KIF11
regulation of mitotic centrosome separation	1	3370.4×	0.001	KIF11
mitotic centrosome separation	1	2808.7×	0.001	KIF11
spindle organization	1	991.3×	0.002	KIF11
mitotic spindle assembly	1	343.9×	0.005	KIF11
microtubule-based movement	1	295.6×	0.005	KIF11
mitotic spindle organization	1	271.8×	0.005	KIF11
mitotic cell cycle	1	133.8×	0.008	KIF11
cell division	1	46.2×	0.022	KIF11

Therapeutics

Drug target analysis

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

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
KIF11	6	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
GOSSYPOL	3	KIF11
AZD-4877	2	KIF11
LITRONESIB	2	KIF11
ISPINESIB	2	KIF11
FILANESIB	2	KIF11
SB-743921	1	KIF11

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
KIF11	193	Binding:185, Functional:8

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
KIF11	5.6.1.3	plus-end-directed kinesin ATPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
KIF11	193

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

6 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.

Compound	Max phase	Cohort target (bioactivity)
GOSSYPOL	3	KIF11
AZD-4877	2	KIF11
LITRONESIB	2	KIF11
ISPINESIB	2	KIF11
FILANESIB	2	KIF11
SB-743921	1	KIF11

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	1	KIF11
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.