Matthew-Wood syndrome

Summary

Matthew-Wood syndrome (MONDO:0011010) is a disease caused by STRA6 (GenCC Definitive), with 4 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: STRA6 (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 168
• Phenotypes (HPO): 20

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		43	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0000528	Anophthalmia	Very frequent (80-99%)
HP:0000568	Microphthalmia	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0000776	Congenital diaphragmatic hernia	Frequent (30-79%)
HP:0002088	Abnormal lung morphology	Frequent (30-79%)
HP:0002089	Pulmonary hypoplasia	Frequent (30-79%)
HP:0030680	Abnormal cardiovascular system morphology	Frequent (30-79%)
HP:0000028	Cryptorchidism	Occasional (5-29%)
HP:0000076	Vesicoureteral reflux	Occasional (5-29%)
HP:0000085	Horseshoe kidney	Occasional (5-29%)
HP:0000089	Renal hypoplasia	Occasional (5-29%)
HP:0000130	Abnormality of the uterus	Occasional (5-29%)
HP:0000369	Low-set ears	Occasional (5-29%)
HP:0001252	Hypotonia	Occasional (5-29%)
HP:0001508	Failure to thrive	Occasional (5-29%)
HP:0001511	Intrauterine growth retardation	Occasional (5-29%)
HP:0001734	Annular pancreas	Occasional (5-29%)
HP:0025408	Abnormal spleen morphology	Occasional (5-29%)
HP:0100800	Aplasia/Hypoplasia of the pancreas	Occasional (5-29%)
HP:0100867	Duodenal stenosis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Matthew-Wood syndrome
Mondo ID	MONDO:0011010
MeSH	C537768
OMIM	601186
Orphanet	2470
DOID	DOID:0050819, DOID:0111807
SNOMED CT	722458000
UMLS	C1832661
MedGen	318679
GARD	0000713
Is cancer (heuristic)	no

Also known as: anophthalmia-pulmonary hypoplasia syndrome · clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations · Matthew Wood syndrome · Matthew-Wood syndrome · MCOPS9 · microphthalmia syndromic 9 · microphthalmia syndromic type 9 · microphthalmia, syndromic 9 · microphthalmia, syndromic type 9 · pulmonary agenesis microphthalmi and diaphragmatic defect · syndromic microphthalmia type 9

Data availability: 168 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › multiple congenital anomalies/dysmorphic syndrome › multiple congenital anomalies/dysmorphic syndrome without intellectual disability › Matthew-Wood syndrome

Related subtypes (167): Treacher-Collins syndrome, branchio-oto-renal syndrome, acrorenal syndrome, Townes-Brocks syndrome, Ascher syndrome, brachytelephalangy-dysmorphism-Kallmann syndrome, branchiooculofacial syndrome, Gordon syndrome, cataract-aberrant oral frenula-growth delay syndrome, cherubism, Alagille syndrome, cleft palate-lateral synechia syndrome, blepharocheilodontic syndrome, craniofacial-deafness-hand syndrome, cryptomicrotia-brachydactyly-excess fingertip arch syndrome, Beare-Stevenson cutis gyrata syndrome, Cyprus facial-neuromusculoskeletal syndrome, deafness-craniofacial syndrome, short stature-valvular heart disease-characteristic facies syndrome, 3-M syndrome, external auditory canal atresia-vertical talus-hypertelorism syndrome, femoral-facial syndrome, multinodular goiter-cystic kidney-polydactyly syndrome, hand-foot-genital syndrome, Bencze syndrome, oculoauriculovertebral spectrum with radial defects, Holt-Oram syndrome, mullerian duct anomalies-limb anomalies syndrome, Aase-Smith syndrome, LADD syndrome, Noonan syndrome with multiple lentigines, median nodule of the upper lip, Nager acrofacial dysostosis, Marshall syndrome, Binder syndrome, Schilbach-Rott syndrome, nasopalpebral lipoma-coloboma syndrome, autosomal dominant prognathism, short stature-craniofacial anomalies-genital hypoplasia syndrome, radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome, scalp-ear-nipple syndrome, flat face-microstomia-ear anomaly syndrome, Czeizel-Losonci syndrome, otospondylomegaepiphyseal dysplasia, autosomal dominant, ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome, posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome, acrofacial dysostosis, Weyers type, Freeman-Sheldon syndrome, Ackerman syndrome, acro-renal-mandibular syndrome, acrocraniofacial dysostosis, PAGOD syndrome, alar cartilages hypoplasia-coloboma-telecanthus syndrome, microcephaly-albinism-digital anomalies syndrome, fetal akinesia deformation sequence, Cooper-Jabs syndrome, Barber-Say syndrome, Beemer-Ertbruggen syndrome, blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome, camptodactyly syndrome, Guadalajara type 1, camptodactyly syndrome, Guadalajara type 2, heart defects-limb shortening syndrome, Verloove Vanhorick-Brubakk syndrome, Juberg-Hayward syndrome, heart defect - tongue hamartoma - polysyndactyly syndrome, Fraser syndrome, split hand-foot malformation 1 with sensorineural hearing loss, von Voss-Cherstvoy syndrome, autosomal recessive faciodigitogenital syndrome, gingival fibromatosis-facial dysmorphism syndrome, Fibulo-ulnar hypoplasia-renal anomalies syndrome, frontofacionasal dysplasia, genito-palato-cardiac syndrome, Hirschsprung disease-hearing loss-polydactyly syndrome, Holzgreve-Wagner-Rehder syndrome, hydrocephaly-tall stature-joint laxity syndrome, McKusick-Kaufman syndrome, acrofrontofacionasal dysostosis 2, Vici syndrome, Donohue syndrome, Dahlberg-Borer-Newcomer syndrome, macrosomia-microphthalmia-cleft palate syndrome, mesomelic dwarfism-cleft palate-camptodactyly syndrome, Nijmegen breakage syndrome, lethal congenital contracture syndrome 1, Richieri Costa-da Silva syndrome, Keipert syndrome, nephrosis-deafness-urinary tract-digital malformations syndrome, ichthyosis-oral and digital anomalies syndrome, otoonychoperoneal syndrome, PHAVER syndrome, polysyndactyly-cardiac malformation syndrome, postaxial acrofacial dysostosis, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, renal-genital-middle ear anomalies, Richieri Costa-Pereira syndrome, SHORT syndrome, tetraamelia-multiple malformations syndrome, thymic-renal-anal-lung dysplasia, trigonocephaly-bifid nose-acral anomalies syndrome, white forelock with malformations, syndactyly-telecanthus-anogenital and renal malformations syndrome, Abruzzo-Erickson syndrome, CHILD syndrome, pentalogy of Cantrell, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, short tarsus-absence of lower eyelashes syndrome, PARC syndrome, CODAS syndrome, pectus excavatum-macrocephaly-dysplastic nails syndrome, velo-facial-skeletal syndrome, anophthalmia plus syndrome, van den Ende-Gupta syndrome, absent tibia-polydactyly-arachnoid cyst syndrome, diaphragmatic defect-limb deficiency-skull defect syndrome, cleft lip/palate-intestinal malrotation-cardiopathy syndrome, microcephaly-cardiac defect-lung malsegmentation syndrome, dislocation of the hip-dysmorphism syndrome, short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, grange syndrome, camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye, arhinia, choanal atresia, and microphthalmia, anonychia-microcephaly syndrome, developmental malformations-deafness-dystonia syndrome, lethal congenital contracture syndrome 2, craniolenticulosutural dysplasia, 8q22.1 microdeletion syndrome, Braddock syndrome, choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, BNAR syndrome, Frias syndrome, lethal congenital contracture syndrome 3, Fontaine progeroid syndrome, microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, Nijmegen breakage syndrome-like disorder, Warsaw breakage syndrome, even-plus syndrome, split-foot malformation-mesoaxial polydactyly syndrome, anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome, digitotalar dysmorphism, heart-hand syndrome type 2, night blindness-skeletal anomalies-dysmorphism syndrome, Charlie M syndrome, facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome, cleft lip-retinopathy syndrome, Cole-Carpenter syndrome, progressive non-infectious anterior vertebral fusion, dysmorphism-pectus carinatum-joint laxity syndrome, Hirschsprung disease-type D brachydactyly syndrome, mandibuloacral dysplasia, contractures - webbed neck - micrognathia - hypoplastic nipples syndrome, Thomas syndrome, Waardenburg syndrome, Weill-Marchesani syndrome, branchiootic syndrome, auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome, Axenfeld-Rieger syndrome, macrostomia-preauricular tags-external ophthalmoplegia syndrome, pelvis syndrome, Fanconi anemia, van der Woude syndrome, hypertrichosis-acromegaloid facial appearance syndrome, 49,XYYYY syndrome, congenital vertebral-cardiac-renal anomalies syndrome, structural heart defects and renal anomalies syndrome, Greig cephalopolysyndactyly-contiguous gene 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

168 retrieved; paginated sample, class counts are floors:

63 uncertain significance, 32 likely benign, 20 pathogenic, 19 benign, 13 conflicting classifications of pathogenicity, 10 benign/likely benign, 9 likely pathogenic, 2 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1030805	NM_022369.4(STRA6):c.62dup (p.Ser22fs)	STRA6	Pathogenic	criteria provided, single submitter
1134	NM_022369.4(STRA6):c.147del (p.Gly50fs)	STRA6	Pathogenic	no assertion criteria provided
1136	NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)	STRA6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1137	NM_022369.4(STRA6):c.269C>T (p.Pro90Leu)	STRA6	Pathogenic	no assertion criteria provided
1139	NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs)	STRA6	Pathogenic	no assertion criteria provided
1141	NM_022369.4(STRA6):c.35_36dup (p.Gly13fs)	STRA6	Pathogenic	no assertion criteria provided
1142	NM_022369.4(STRA6):c.69G>A (p.Trp23Ter)	STRA6	Pathogenic	no assertion criteria provided
1334721	NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter)	STRA6	Pathogenic	criteria provided, multiple submitters, no conflicts
1387638	NM_022369.4(STRA6):c.985del (p.Val329fs)	STRA6	Pathogenic	criteria provided, single submitter
1970873	NM_022369.4(STRA6):c.267-1G>T	STRA6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
39742	NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)	STRA6	Pathogenic	criteria provided, single submitter
40078	NM_022369.4(STRA6):c.1678G>C (p.Asp560His)	STRA6	Pathogenic	no assertion criteria provided
572841	NM_022369.4(STRA6):c.1676dup (p.Asp560fs)	STRA6	Pathogenic	criteria provided, single submitter
88764	NM_022369.4(STRA6):c.1521-1G>A	STRA6	Pathogenic	no assertion criteria provided
915291	NM_022369.4(STRA6):c.438G>A (p.Trp146Ter)	STRA6	Pathogenic	criteria provided, single submitter
936558	NM_022369.4(STRA6):c.481del (p.Leu161fs)	STRA6	Pathogenic	criteria provided, single submitter
984924	NM_022369.4(STRA6):c.347del (p.Leu116fs)	STRA6	Pathogenic	criteria provided, single submitter
984925	NM_022369.4(STRA6):c.1301-6T>A	STRA6	Pathogenic	criteria provided, single submitter
1299461	NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter)	WNT7B	Pathogenic	no assertion criteria provided
1299462	NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser)	WNT7B	Pathogenic	no assertion criteria provided
437887	NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter)	WNT7B	Pathogenic	criteria provided, multiple submitters, no conflicts
4686622	NM_058238.3(WNT7B):c.324C>G (p.Tyr108Ter)	WNT7B	Pathogenic	criteria provided, single submitter
3892576	NM_001199040.2(STRA6):c.45G>A (p.Trp15Ter)	CCDC33	Likely pathogenic	criteria provided, single submitter
1064531	NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro)	STRA6	Likely pathogenic	criteria provided, single submitter
1133	NM_022369.4(STRA6):c.878C>T (p.Pro293Leu)	STRA6	Likely pathogenic	criteria provided, single submitter
1140	NM_022369.4(STRA6):c.527dup (p.Ser177fs)	STRA6	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3780680	NM_022369.4(STRA6):c.92dup (p.Glu32fs)	STRA6	Likely pathogenic	criteria provided, single submitter
446174	NM_022369.4(STRA6):c.113+3_113+4del	STRA6	Likely pathogenic	criteria provided, single submitter
951027	NM_022369.4(STRA6):c.1418+1_1418+3del	STRA6	Likely pathogenic	criteria provided, single submitter
956260	NM_022369.4(STRA6):c.431-2A>G	STRA6	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 13 · Orphanet: 4 · 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
STRA6	Definitive	Autosomal recessive	Matthew-Wood syndrome	5
RARB	Supportive	Autosomal dominant	Matthew-Wood syndrome	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
STRA6	Orphanet:2470	Matthew-Wood syndrome
STRA6	Orphanet:98938	Colobomatous microphthalmia
RARB	Orphanet:689829	Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
WNT7B	Orphanet:2470	Matthew-Wood syndrome

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
STRA6	HGNC:30650	ENSG00000137868	Q9BX79	Receptor for retinol uptake STRA6	gencc,clinvar
RARB	HGNC:9865	ENSG00000077092	P10826	Retinoic acid receptor beta	gencc
WNT7B	HGNC:12787	ENSG00000188064	P56706	Protein Wnt-7b	clinvar
CCDC33	HGNC:26552	ENSG00000140481	Q8N5R6	Coiled-coil domain-containing protein 33	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STRA6	Receptor for retinol uptake STRA6	Functions as a retinol transporter.
RARB	Retinoic acid receptor beta	Receptor for retinoic acid.
WNT7B	Protein Wnt-7b	Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.25

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
Nuclear receptor	1	96.5×	0.021
Other/Unknown	3	1.3×	0.404

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
STRA6	Other/Unknown	no		STRA6-like
RARB	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
WNT7B	Other/Unknown	no		Wnt, Wnt7, Wnt_CS
CCDC33	Other/Unknown	no		C2_dom, C2_domain_sf, CCD33

Expression context

Cohort genes with no expression data: 0.

4 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)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	2
endometrium	1
placenta	1
stromal cell of endometrium	1
choroid plexus epithelium	1
palpebral conjunctiva	1
parotid gland	1
vena cava	1
left testis	1
olfactory segment of nasal mucosa	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STRA6	128	broad	marker	stromal cell of endometrium, endometrium, placenta
RARB	210	ubiquitous	marker	choroid plexus epithelium, palpebral conjunctiva, buccal mucosa cell
WNT7B	122	broad	marker	vena cava, buccal mucosa cell, parotid gland
CCDC33	100	broad	marker	right uterine tube, olfactory segment of nasal mucosa, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RARB	2,185
CCDC33	2,024
WNT7B	1,676
STRA6	1,448

Structural data

PDB: 1 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RARB	P10826	9

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
WNT7B	P56706	90.71
STRA6	Q9BX79	78.18
CCDC33	Q8N5R6	72.34

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 4 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective visual phototransduction due to STRA6 loss of function	1	1268.9×	0.003	STRA6
Retinoid cycle disease events	1	951.7×	0.003	STRA6
Diseases associated with visual transduction	1	951.7×	0.003	STRA6
Diseases of the neuronal system	1	951.7×	0.003	STRA6
The canonical retinoid cycle in rods (twilight vision)	1	173.0×	0.014	STRA6
WNT ligand biogenesis and trafficking	1	141.0×	0.014	WNT7B
Signaling by Retinoic Acid	1	135.9×	0.014	RARB
Visual phototransduction	1	86.5×	0.019	STRA6
Nuclear Receptor transcription pathway	1	66.8×	0.020	RARB
Class B/2 (Secretin family receptors)	1	63.4×	0.020	WNT7B
Sensory Perception	1	31.7×	0.035	STRA6
Activation of anterior HOX genes in hindbrain development during early embryogenesis	1	30.4×	0.035	RARB
Disease	1	4.4×	0.212	STRA6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
embryonic digestive tract development	2	660.9×	3e-04	STRA6, RARB
stem cell proliferation	2	208.1×	0.001	WNT7B, RARB
regulation of cell projection size	1	5617.3×	0.002	WNT7B
chemoattraction of dopaminergic neuron axon	1	5617.3×	0.002	WNT7B
positive regulation of behavior	1	5617.3×	0.002	STRA6
lobar bronchus development	1	5617.3×	0.002	WNT7B
alveolar primary septum development	1	5617.3×	0.002	STRA6
outer medullary collecting duct development	1	5617.3×	0.002	WNT7B
lung development	2	132.2×	0.002	STRA6, WNT7B
retinol transport	1	2808.7×	0.002	STRA6
embryonic camera-type eye formation	1	2808.7×	0.002	STRA6
vitamin A import into cell	1	2808.7×	0.002	STRA6
renal inner medulla development	1	2808.7×	0.002	WNT7B
renal outer medulla development	1	2808.7×	0.002	WNT7B
inner medullary collecting duct development	1	2808.7×	0.002	WNT7B
metanephric loop of Henle development	1	2808.7×	0.002	WNT7B
establishment or maintenance of polarity of embryonic epithelium	1	1872.4×	0.003	WNT7B
nose morphogenesis	1	1872.4×	0.003	STRA6
trachea cartilage morphogenesis	1	1872.4×	0.003	WNT7B
developmental growth involved in morphogenesis	1	1872.4×	0.003	WNT7B
metanephros morphogenesis	1	1404.3×	0.003	WNT7B
paramesonephric duct development	1	1404.3×	0.003	STRA6
glandular epithelial cell development	1	1123.5×	0.003	RARB
forebrain regionalization	1	1123.5×	0.003	WNT7B
central nervous system vasculogenesis	1	1123.5×	0.003	WNT7B
embryonic placenta morphogenesis	1	1123.5×	0.003	WNT7B
metanephric epithelium development	1	1123.5×	0.003	WNT7B
ductus arteriosus closure	1	1123.5×	0.003	STRA6
uterus morphogenesis	1	936.2×	0.003	STRA6
pulmonary artery morphogenesis	1	936.2×	0.003	STRA6

Therapeutics

Drug target analysis

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

Druggability breadth: 2 of 4 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
RARB	BEXAROTENE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RARB	18	4
STRA6	0	0
WNT7B	0	0
CCDC33	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BEXAROTENE	4	RARB
AMOXICILLIN	4	RARB
ADAPALENE	4	RARB
TOLCAPONE	4	RARB
KETOCONAZOLE	4	RARB
CYCLOSPORINE	4	RARB
TAZAROTENE	4	RARB
TAMIBAROTENE	4	RARB
TRIFAROTENE	4	RARB
TRETINOIN	4	RARB
TROGLITAZONE	4	RARB
TROVAFLOXACIN	4	RARB
ALPROSTADIL	4	RARB
IBUPROFEN	4	RARB
ZAFIRLUKAST	4	RARB
ALITRETINOIN	4	RARB
CONESSINE	2	RARB
GLIQUIDONE	2	RARB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
RARB	278	Binding:199, Functional:78, ADMET:1
STRA6	1	Binding:1

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
RARB	278

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

18 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)
BEXAROTENE	4	RARB
AMOXICILLIN	4	RARB
ADAPALENE	4	RARB
TOLCAPONE	4	RARB
KETOCONAZOLE	4	RARB
CYCLOSPORINE	4	RARB
TAZAROTENE	4	RARB
TAMIBAROTENE	4	RARB
TRIFAROTENE	4	RARB
TRETINOIN	4	RARB
TROGLITAZONE	4	RARB
TROVAFLOXACIN	4	RARB
ALPROSTADIL	4	RARB
IBUPROFEN	4	RARB
ZAFIRLUKAST	4	RARB
ALITRETINOIN	4	RARB
CONESSINE	2	RARB
GLIQUIDONE	2	RARB

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	RARB
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	3	STRA6, WNT7B, CCDC33

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
STRA6	1	—
WNT7B	0	—
CCDC33	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.