Multiple self-healing squamous epithelioma

Summary

Multiple self-healing squamous epithelioma (MONDO:0007566) is a disease caused by TGFBR1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Causal gene: TGFBR1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 47

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	multiple self-healing squamous epithelioma
Mondo ID	MONDO:0007566
MeSH	C536150
OMIM	132800
Orphanet	65748
DOID	DOID:5585
NCIT	C4461
SNOMED CT	254659009
UMLS	C0546476
MedGen	154270
GARD	0003090
Is cancer (heuristic)	no

Also known as: ESS1 · ESS1 (formerly) · familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease · Ferguson-Smith syndrome · Ferguson-Smith tumor · Ferguson-Smith tumour · MSSE · multiple keratoacanthoma, Ferguson-Smith type · multiple self healing epithelioma of Ferguson-Smith · multiple self healing squamous epithelioma · multiple self-healing squamous epithelioma · multiple self-healing squamous epithelioma, susceptibility to · self-healing squamous epithelioma type 1

Data availability: 47 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › multiple self-healing squamous epithelioma

Related subtypes (116): mosaic variegated aneuploidy syndrome, tuberous sclerosis, hereditary breast ovarian cancer syndrome, hereditary multiple osteochondromas, nevoid basal cell carcinoma syndrome, leukemia, chronic lymphocytic, susceptibility to, 2, blue rubber bleb nevus, cherubism, Beckwith-Wiedemann syndrome, erythroleukemia, familial, susceptibility to, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, hyperparathyroidism 2 with jaw tumors, Kaposi sarcoma, susceptibility to, hereditary leiomyomatosis and renal cell cancer, susceptibility to uveal melanoma, melanoma and neural system tumor syndrome, nasopharyngeal carcinoma, susceptibility to, 2, WAGR syndrome, neuroblastoma, susceptibility to, 1, Rothmund-Thomson syndrome, mismatch repair cancer syndrome 1, Wiskott-Aldrich syndrome, N syndrome, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, prostate cancer/brain cancer susceptibility, Brooke-Spiegler syndrome, pancreatic cancer, susceptibility to, 1, Carney-Stratakis syndrome, nasopharyngeal carcinoma, susceptibility to, 1, ovarian cancer, susceptibility to, 1, colorectal cancer, susceptibility to, 1, lung cancer susceptibility 1, leukemia, chronic lymphocytic, susceptibility to, 1, Kostmann syndrome, colorectal cancer, susceptibility to, 2, colorectal cancer, susceptibility to, 3, colorectal cancer, susceptibility to, 5, colorectal cancer, susceptibility to, 6, colorectal cancer, susceptibility to, 7, leukemia, chronic lymphocytic, susceptibility to, 3, leukemia, chronic lymphocytic, susceptibility to, 4, leukemia, chronic lymphocytic, susceptibility to, 5, lung cancer susceptibility 3, colorectal cancer, susceptibility to, 8, colorectal cancer, susceptibility to, 9, colorectal cancer, susceptibility to, 10, colorectal cancer, susceptibility to, 11, lung cancer susceptibility 4, neuroblastoma, susceptibility to, 3, neuroblastoma, susceptibility to, 4, neuroblastoma, susceptibility to, 5, neuroblastoma, susceptibility to, 6, leukemia, acute lymphocytic, susceptibility to, 1, leukemia, acute lymphocytic, susceptibility to, 2, lung cancer susceptibility 5, BAP1-related tumor predisposition syndrome, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, basal cell carcinoma, susceptibility to, 7, colorectal cancer, susceptibility to, 12, leukemia, acute lymphoblastic, susceptibility to, 3, cholangiocarcinoma, susceptibility to, progeroid features-hepatocellular carcinoma predisposition syndrome, neuroblastoma, susceptibility to, 7, DDX41-related hematologic malignancy predisposition syndrome, nasopharyngeal carcinoma, susceptibility to, 3, familial isolated hyperparathyroidism, intestinal polyposis syndrome, dyskeratosis congenita, familial rhabdoid tumor, multiple endocrine neoplasia, hereditary pheochromocytoma-paraganglioma, PTEN hamartoma tumor syndrome, familial multiple fibrofolliculoma, hereditary retinoblastoma, familial atypical multiple mole melanoma syndrome, hereditary nonpolyposis colon cancer, Li-Fraumeni syndrome, Cobb syndrome, neurofibromatosis, susceptibility to familial cutaneous melanoma, pancreatic cancer, susceptibility to, 5, leukemia, acute myeloid, susceptibility to, diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, glioma susceptibility, hemangioma, capillary infantile, susceptibility to, CDH1-related diffuse gastric and lobular breast cancer syndrome, NTHL1-deficiency tumor predisposition syndrome, SAMD9-related spectrum and myeloid neoplasm risk, neuroblastoma, susceptibility to, 2, BARD1-related cancer predisposition, BRCA1-related cancer predisposition, BRCA2-related cancer predisposition, ATM-related cancer predisposition, CHEK2-related cancer predisposition, PALB2-related cancer predisposition, RAD51C-related cancer predisposition, RAD51D-related cancer predisposition, Li-fraumeni-like syndrome, breast cancer, familial, susceptibility to, 1, breast cancer, familial, susceptibility to, 2, breast cancer, familial, susceptibility to, 3, colorectal cancer, susceptibility to, 4, colorectal cancer, susceptibility to, on chromosome 15, ovarian cancer, familial, susceptibility to, 1, ovarian cancer, familial, susceptibility to, 2, ovarian cancer, familial, susceptibility to, 3, inherited hematologic cancer-predisposing syndrome, mosaic neurofibromatosis/schwannomatosis, tumor predisposition syndrome 2, prostate cancer, hereditary, X-linked 3, follicular lymphoma, susceptibility to, GPR161-related medulloblastoma predisposition, SAMD9L-related spectrum and myeloid neoplasm risk, HAVCR2-related cancer predisposition, EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition

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

47 retrieved; paginated sample, class counts are floors:

16 uncertain significance, 11 conflicting classifications of pathogenicity, 6 benign/likely benign, 5 benign, 3 likely pathogenic, 3 pathogenic/likely pathogenic, 2 pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
12524	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12526	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1805979	NM_004612.4(TGFBR1):c.98-1G>A	TGFBR1	Pathogenic	criteria provided, single submitter
213882	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29918	NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)	TGFBR1	Pathogenic	criteria provided, single submitter
1022363	NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del)	TGFBR1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1327058	NM_004612.4(TGFBR1):c.1059_1062delinsCAATAA (p.Leu354fs)	TGFBR1	Likely pathogenic	criteria provided, single submitter
2582402	NM_004612.4(TGFBR1):c.805+1G>T	TGFBR1	Likely pathogenic	criteria provided, single submitter
364096	NM_004612.4(TGFBR1):c.-13T>C	LOC130002223	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1081254	NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1512054	NM_004612.4(TGFBR1):c.1256-3C>T	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
161393	NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
213864	NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
213881	NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
213900	NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
408560	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
45096	NM_004612.4(TGFBR1):c.1387-4G>A	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
618428	NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
927276	NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)	TGFBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1356148	NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1425678	NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1527851	NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer)	TGFBR1	Uncertain significance	criteria provided, single submitter
1698260	NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
213899	NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
29915	NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
29916	NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)	TGFBR1	Uncertain significance	criteria provided, single submitter
29917	NM_004612.4(TGFBR1):c.806-2A>C	TGFBR1	Uncertain significance	criteria provided, single submitter
477564	NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
520216	NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
543893	NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)	TGFBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · 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
TGFBR1	Definitive	Autosomal dominant	multiple self-healing squamous epithelioma	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TGFBR1	Orphanet:284973	Marfan syndrome type 2
TGFBR1	Orphanet:60030	Loeys-Dietz syndrome
TGFBR1	Orphanet:65748	Multiple self-healing squamous epithelioma
TGFBR1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection

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
TGFBR1	HGNC:11772	ENSG00000106799	P36897	TGF-beta receptor type-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TGFBR1	TGF-beta receptor type-1	Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TGFBR1	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_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
saphenous vein	1
tibia	1
visceral pleura	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TGFBR1	269	ubiquitous	marker	saphenous vein, tibia, visceral pleura

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TGFBR1	4,828

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TGFBR1	P36897	44

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 23. 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
Loss of Function of TGFBR2 in Cancer	1	3806.7×	0.002	TGFBR1
TGFBR2 Kinase Domain Mutants in Cancer	1	3806.7×	0.002	TGFBR1
TGFBR1 LBD Mutants in Cancer	1	2855.0×	0.002	TGFBR1
Loss of Function of TGFBR1 in Cancer	1	2284.0×	0.002	TGFBR1
Loss of Function of SMAD2/3 in Cancer	1	1903.3×	0.002	TGFBR1
Signaling by TGF-beta Receptor Complex in Cancer	1	1903.3×	0.002	TGFBR1
SMAD2/3 Phosphorylation Motif Mutants in Cancer	1	1903.3×	0.002	TGFBR1
TGFBR1 KD Mutants in Cancer	1	1903.3×	0.002	TGFBR1
TGFBR3 regulates TGF-beta signaling	1	1427.5×	0.002	TGFBR1
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	1	671.8×	0.003	TGFBR1
Downregulation of TGF-beta receptor signaling	1	407.9×	0.005	TGFBR1
Signaling by TGFBR3	1	368.4×	0.005	TGFBR1
TGF-beta receptor signaling activates SMADs	1	326.3×	0.005	TGFBR1
Signaling by TGF-beta Receptor Complex	1	200.3×	0.008	TGFBR1
Deubiquitination	1	124.1×	0.012	TGFBR1
UCH proteinases	1	124.1×	0.012	TGFBR1
Signaling by TGFB family members	1	115.3×	0.012	TGFBR1
Diseases of signal transduction by growth factor receptors and second messengers	1	56.8×	0.022	TGFBR1
Ub-specific processing proteases	1	53.1×	0.023	TGFBR1
Post-translational protein modification	1	19.2×	0.060	TGFBR1
Disease	1	13.1×	0.084	TGFBR1
Metabolism of proteins	1	12.4×	0.084	TGFBR1
Signal Transduction	1	10.2×	0.098	TGFBR1

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
extracellular structure organization	1	16852.0×	0.002	TGFBR1
epicardium morphogenesis	1	8426.0×	0.002	TGFBR1
angiogenesis involved in coronary vascular morphogenesis	1	5617.3×	0.002	TGFBR1
vascular endothelial cell proliferation	1	5617.3×	0.002	TGFBR1
positive regulation of vasculature development	1	4213.0×	0.002	TGFBR1
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	1	4213.0×	0.002	TGFBR1
myofibroblast differentiation	1	3370.4×	0.002	TGFBR1
regulation of cardiac muscle cell proliferation	1	3370.4×	0.002	TGFBR1
positive regulation of tight junction disassembly	1	3370.4×	0.002	TGFBR1
ventricular compact myocardium morphogenesis	1	2407.4×	0.002	TGFBR1
parathyroid gland development	1	2407.4×	0.002	TGFBR1
trophoblast cell migration	1	2407.4×	0.002	TGFBR1
mesenchymal cell differentiation	1	2106.5×	0.002	TGFBR1
positive regulation of mesenchymal stem cell proliferation	1	2106.5×	0.002	TGFBR1
primordial germ cell migration	1	1872.4×	0.002	TGFBR1
coronary artery morphogenesis	1	1872.4×	0.002	TGFBR1
positive regulation of extracellular matrix assembly	1	1872.4×	0.002	TGFBR1
endothelial cell activation	1	1685.2×	0.002	TGFBR1
response to cholesterol	1	1685.2×	0.002	TGFBR1
regulation of epithelial to mesenchymal transition	1	1532.0×	0.002	TGFBR1
cardiac epithelial to mesenchymal transition	1	1203.7×	0.003	TGFBR1
ventricular trabecula myocardium morphogenesis	1	1053.2×	0.003	TGFBR1
regulation of protein ubiquitination	1	887.0×	0.003	TGFBR1
activin receptor signaling pathway	1	887.0×	0.003	TGFBR1
neuron fate commitment	1	802.5×	0.004	TGFBR1
pharyngeal system development	1	802.5×	0.004	TGFBR1
blastocyst development	1	674.1×	0.004	TGFBR1
negative regulation of chondrocyte differentiation	1	674.1×	0.004	TGFBR1
artery morphogenesis	1	674.1×	0.004	TGFBR1
filopodium assembly	1	648.1×	0.004	TGFBR1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · 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).

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
TGFBR1	MOMELOTINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TGFBR1	28	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1
NINTEDANIB	4	TGFBR1
DASATINIB	4	TGFBR1
CRIZOTINIB	4	TGFBR1
SARACATINIB	3	TGFBR1
CANERTINIB	3	TGFBR1
TESEVATINIB	3	TGFBR1
CEDIRANIB	3	TGFBR1
LESTAURTINIB	3	TGFBR1
GALUNISERTIB	2	TGFBR1
OSI-632	2	TGFBR1
OSI-027	2	TGFBR1
VACTOSERTIB	2	TGFBR1
BMS-690514	2	TGFBR1
DANUSERTIB	2	TGFBR1
R-406	2	TGFBR1
AT-9283	2	TGFBR1
ZILURGISERTIB	2	TGFBR1
TOZASERTIB	2	TGFBR1
KER-047	2	TGFBR1
GSK-1070916	1	TGFBR1
TAK-901	1	TGFBR1
XL-228	1	TGFBR1
MK-5108	1	TGFBR1
LY-3200882	1	TGFBR1
CYC-116	1	TGFBR1
PF-06952229	1	TGFBR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
TGFBR1	541	Binding:516, Functional:13, ADMET:12

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TGFBR1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
TGFBR1	541

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

28 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)
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1
NINTEDANIB	4	TGFBR1
DASATINIB	4	TGFBR1
CRIZOTINIB	4	TGFBR1
SARACATINIB	3	TGFBR1
CANERTINIB	3	TGFBR1
TESEVATINIB	3	TGFBR1
CEDIRANIB	3	TGFBR1
LESTAURTINIB	3	TGFBR1
GALUNISERTIB	2	TGFBR1
OSI-632	2	TGFBR1
OSI-027	2	TGFBR1
VACTOSERTIB	2	TGFBR1
BMS-690514	2	TGFBR1
DANUSERTIB	2	TGFBR1
R-406	2	TGFBR1
AT-9283	2	TGFBR1
ZILURGISERTIB	2	TGFBR1
TOZASERTIB	2	TGFBR1
KER-047	2	TGFBR1
GSK-1070916	1	TGFBR1
TAK-901	1	TGFBR1
XL-228	1	TGFBR1
MK-5108	1	TGFBR1
LY-3200882	1	TGFBR1
CYC-116	1	TGFBR1
PF-06952229	1	TGFBR1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	TGFBR1
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	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.