Connective tissue disorder

Summary

Connective tissue disorder (MONDO:0003900) is a disease (an umbrella term covering 16 Mondo subtypes) with 75 cohort genes (37 GWAS associations across 28 studies) and 83 clinical trials. The dominant Reactome pathway is Assembly of collagen fibrils and other multimeric structures (12 cohort genes). Top therapeutic interventions include pirfenidone, acetylcysteine, and avatrombopag.

At a glance

• Umbrella term: 16 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 37
• ClinVar variants: 1,357
• Clinical trials: 83

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	connective tissue disorder
Mondo ID	MONDO:0003900
EFO	EFO:1001986
MeSH	D003240
DOID	DOID:65
NCIT	C26729
SNOMED CT	105969002
UMLS	C0009782
MedGen	1098
Is cancer (heuristic)	no

Also known as: connective tissue disease · connective tissue disease or disorder · connective tissue diseases · connective tissue disorder · connective tissue disorders · disease of connective tissue · disease or disorder of connective tissue · disease, connective tissue · disorder of connective tissue · primary disorder of connective tissue · tissue disease, connective

Data availability: 1,357 ClinVar variants · 37 GWAS associations (28 studies) · 8 GenCC gene-disease records.

Disease family

An umbrella term covering 16 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › connective tissue disorder

Related subtypes (18): disorder of orbital region, integumentary system disorder, musculoskeletal system disorder, urinary system disorder, syndromic disease, auditory system disorder, breast disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, hematologic disorder, mouth disorder, disorder of visual system, otorhinolaryngologic disease

Subtypes (16): benign connective and soft tissue neoplasm, ochronosis disorder, enthesopathy, synovitis, collagenopathy, fasciitis, interstitial keratitis, periostitis, rheumatic disorder, panniculitis, ainhum, overlapping connective tissue disease, interstitial cystitis, connective tissue neoplasm, hereditary disorder of connective tissue, disease of the tendon

Genetics & variants

GWAS landscape

37 GWAS associations across 28 studies. Top hits map to 18 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr6:32606965	6e-100		A	0.35
rs117026326	4e-29	GTF2I-AS1, GTF2I	?
rs185439717	2e-14	LINC02466	G	2.52
rs181068683	1e-13	ETV6 - BCL2L14	C	2.42
rs2523584	3e-13	HLA-B	A	0.44
rs377221411	6e-13	LUC7L	G	3.47
rs537556691	1e-12	RTKN2	G	3.93
rs558072691	1e-12	SERINC5	G	3.65
chr6:32591315	2e-12		A	0.35
rs543997245	2e-12	BMP7	A	4
rs542777826	2e-12	FAM193A	T	3.54
rs181048655	2e-12	RNU4-66P - RIMS1	C	3.32
rs185017010	4e-12	CDCA7L	G	3.46
rs568214752	1e-11	SLC10A7	G	2.45
rs117594225	1e-11	YWHAE	T	2.58
rs770325541	2e-11	PAPOLA - RN7SKP108	G	2.15
rs550769386	2e-11	DMAC1 - PTPRD	G	2.87
rs537560322	2e-11	LINC02763 - NCAM1-AS2	T	4.24
rs866965763	2e-11	DNAJA1P1 - HMGN2P39	A	3.54
rs570881406	2e-11	GPC5	A	3.92
rs141910439	2e-11	EDIL3-DT - PPIAP79	G	2.83
rs548335381	3e-11	CFTR	G	3.16
rs188930018	3e-11	MYLK	A	2.11
rs150993937	4e-11	UBIAD1 - MTCYBP45	G	1.89
rs187389820	4e-11	WDR35	C	3.28
rs950777942	4e-11	NYAP2 - MIR5702	T	2.31
chr13:42457902	1e-10		C	0.09
chr5:56159818	3e-09		C	0.12
chr7:129069830	7e-09		CCCCA	0.12
chr14:106136048	7e-09		G	2.94

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90474048	UK Biobank Whole-Genome Sequencing Consortium	2025	10,382	448,058	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667825	UK Biobank Whole-Genome Sequencing Consortium	2025	10,382	448,058	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90474055	UK Biobank Whole-Genome Sequencing Consortium	2025	7,493	450,947	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90651168	Liu TY	2025	6,371	210,768	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436636	Zhou W	2018	3,463	399,404	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90080470	Backman JD	2021	3,379	383,362	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084456	Backman JD	2021	3,379	383,362	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90038660	Donertas HM	2021	3,206	481,392	Common genetic associations between age-related diseases.
GCST90044536	Jiang L	2021	2,600	453,748	A generalized linear mixed model association tool for biobank-scale data.
GCST90103422	Fitzgerald T	2022	2,146	168,611	CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	36

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	0
rare (<0.01)	22
unknown	11

Functional consequences

Consequence	Count
intron_variant	19
unknown	10
intergenic_variant	7
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr6:32606965							6e-100	Tier 4: intronic/intergenic
rs117026326	7	74711703	C>T	0.05	intron_variant	GTF2I-AS1, GTF2I	4e-29	Tier 4: intronic/intergenic
rs185439717	4	129687742	G>A	0.001	intron_variant	LINC02466	2e-14	Tier 4: intronic/intergenic
rs181068683	12	11981551	C>T	0.001	regulatory_region_variant	ETV6 - BCL2L14	1e-13	Tier 3: regulatory
rs2523584	6	31360113	A>G	0.093	intron_variant	HLA-B	3e-13	Tier 4: intronic/intergenic
rs377221411	16	208971	G>A,T	0	intron_variant	LUC7L	6e-13	Tier 4: intronic/intergenic
rs537556691	10	62241311	G>A	0	intron_variant	RTKN2	1e-12	Tier 4: intronic/intergenic
rs558072691	5	80174082	G>A	0	intron_variant	SERINC5	1e-12	Tier 4: intronic/intergenic
chr6:32591315				0.476			2e-12	Tier 4: intronic/intergenic
rs543997245	20	57232221	A>G	0	intron_variant	BMP7	2e-12	Tier 4: intronic/intergenic
rs542777826	4	2565217	T>C	0	intron_variant	FAM193A	2e-12	Tier 4: intronic/intergenic
rs181048655	6	71662879	C>T	0.001	intron_variant	RNU4-66P - RIMS1	2e-12	Tier 4: intronic/intergenic
rs185017010	7	21944400	G>A,C	0.001	intron_variant	CDCA7L	4e-12	Tier 4: intronic/intergenic
rs568214752	4	146300696	G>A,C	0.001	intron_variant	SLC10A7	1e-11	Tier 4: intronic/intergenic
rs117594225	17	1378383	T>C	0.001	intron_variant	YWHAE	1e-11	Tier 4: intronic/intergenic
rs770325541	14	96606259	G>A	0.001	intron_variant	PAPOLA - RN7SKP108	2e-11	Tier 4: intronic/intergenic
rs550769386	9	7934823	G>T	0	intron_variant	DMAC1 - PTPRD	2e-11	Tier 4: intronic/intergenic
rs537560322	11	112954594	T>C	0.001	intergenic_variant	LINC02763 - NCAM1-AS2	2e-11	Tier 4: intronic/intergenic
rs866965763	13	58776004	A>G	0	intergenic_variant	DNAJA1P1 - HMGN2P39	2e-11	Tier 4: intronic/intergenic
rs570881406	13	92798491	A>G	0	intron_variant	GPC5	2e-11	Tier 4: intronic/intergenic
rs141910439	5	84822084	G>A	0.001	intergenic_variant	EDIL3-DT - PPIAP79	2e-11	Tier 4: intronic/intergenic
rs548335381	7	117500412	G>A	0	intron_variant	CFTR	3e-11	Tier 4: intronic/intergenic
rs188930018	3	123828025	A>G	0.001	intron_variant	MYLK	3e-11	Tier 4: intronic/intergenic
rs150993937	1	11345114	G>T	0.002	intergenic_variant	UBIAD1 - MTCYBP45	4e-11	Tier 4: intronic/intergenic
rs187389820	2	19930813	C>A	0	intron_variant	WDR35	4e-11	Tier 4: intronic/intergenic
rs950777942	2	226473854	T>A	0.002	intergenic_variant	NYAP2 - MIR5702	4e-11	Tier 4: intronic/intergenic
chr13:42457902							1e-10	Tier 4: intronic/intergenic
chr5:56159818							3e-09	Tier 4: intronic/intergenic
chr7:129069830							7e-09	Tier 4: intronic/intergenic
chr14:106136048							7e-09	Tier 4: intronic/intergenic

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

188 conflicting classifications of pathogenicity, 162 benign/likely benign, 126 uncertain significance, 64 benign, 25 likely pathogenic, 12 pathogenic/likely pathogenic, 12 likely benign, 11 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS	Pathogenic	criteria provided, multiple submitters, no conflicts
143240	NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)	COL2A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1702527	NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu)	COL2A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1702530	NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg)	COL2A1	Pathogenic	criteria provided, single submitter
17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1440290	NM_001851.6(COL9A1):c.9dup (p.Cys4fs)	COL9A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
161449	NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)	COL9A1	Pathogenic	criteria provided, multiple submitters, no conflicts
1702389	NM_001853.4(COL9A3):c.528dup (p.Ile177fs)	COL9A3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11485	NM_006579.3(EBP):c.238G>A (p.Glu80Lys)	EBP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1343082	NM_000138.5(FBN1):c.2670C>A (p.Cys890Ter)	FBN1	Pathogenic	criteria provided, multiple submitters, no conflicts
16437	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1702405	NM_000138.5(FBN1):c.7429C>T (p.Gln2477Ter)	FBN1	Pathogenic	criteria provided, multiple submitters, no conflicts
16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3	Pathogenic	criteria provided, multiple submitters, no conflicts
16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3	Pathogenic	criteria provided, multiple submitters, no conflicts
16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3	Pathogenic	criteria provided, multiple submitters, no conflicts
1702483	NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)	SLC26A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
180524	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
213782	NM_005902.4(SMAD3):c.401-6G>A	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2510	NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)	SOX9	Pathogenic	criteria provided, multiple submitters, no conflicts
213934	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2	Pathogenic	criteria provided, multiple submitters, no conflicts
1702497	NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter)	TRIP11	Pathogenic	criteria provided, single submitter
127159	NM_025132.4(WDR19):c.3565+1G>A	WDR19	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1702373	NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)	COL2A1	Likely pathogenic	criteria provided, single submitter
1702374	NM_001844.5(COL2A1):c.2680-1G>A	COL2A1	Likely pathogenic	criteria provided, single submitter
1702375	NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)	COL2A1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1702376	NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)	COL2A1	Likely pathogenic	criteria provided, single submitter
1702377	NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)	COL2A1	Likely pathogenic	criteria provided, single submitter
1702379	NM_001844.5(COL2A1):c.4317+1G>A	COL2A1	Likely pathogenic	criteria provided, single submitter
1702380	NM_001844.5(COL2A1):c.604_609+2del	COL2A1	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 62 · Orphanet: 237 · 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
ABL1	Moderate	Autosomal dominant	connective tissue disorder	5
ACTA2	Moderate	Autosomal dominant	connective tissue disorder	8
DCC	Moderate	Autosomal recessive	connective tissue disorder	12
MYLK	Moderate	Autosomal dominant	connective tissue disorder	8
NOTCH1	Moderate	Autosomal dominant	connective tissue disorder	9
PIEZO2	Moderate	Autosomal recessive	connective tissue disorder	18
MYADML2	Limited	Autosomal recessive	connective tissue disorder
P4HA1	Limited	Autosomal recessive	connective tissue disorder

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ACTA2	Orphanet:2573	Moyamoya disease
ACTA2	Orphanet:404463	Multisystemic smooth muscle dysfunction syndrome
ACTA2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
MYLK	Orphanet:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
MYLK	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
NOTCH1	Orphanet:402075	Familial bicuspid aortic valve
NOTCH1	Orphanet:974	Adams-Oliver syndrome
PIEZO2	Orphanet:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
PIEZO2	Orphanet:2461	Marden-Walker syndrome
PIEZO2	Orphanet:376	Gordon syndrome
PIEZO2	Orphanet:707937	Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
DCC	Orphanet:238722	Familial congenital mirror movements
DCC	Orphanet:2744	Horizontal gaze palsy with progressive scoliosis
DCC	Orphanet:478	Kallmann syndrome
ABL1	Orphanet:521	Chronic myeloid leukemia
ABL1	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ABL1	Orphanet:643503	Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
ABL1	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia
SHOX	Orphanet:240	Léri-Weill dyschondrosteosis
SHOX	Orphanet:2632	Langer mesomelic dysplasia
SHOX	Orphanet:314795	SHOX-related short stature
SLC26A2	Orphanet:56304	Atelosteogenesis type II
SLC26A2	Orphanet:628	Diastrophic dysplasia
SLC26A2	Orphanet:93298	Achondrogenesis type 1B
SLC26A2	Orphanet:93307	Multiple epiphyseal dysplasia type 4
SOX9	Orphanet:140	Campomelic dysplasia
SOX9	Orphanet:2138	46,XX ovotesticular difference of sex development
SOX9	Orphanet:242	46,XY complete gonadal dysgenesis
SOX9	Orphanet:251510	46,XY partial gonadal dysgenesis
SOX9	Orphanet:393	46,XX testicular difference of sex development
SOX9	Orphanet:718	Isolated Pierre Robin sequence
TGFB2	Orphanet:60030	Loeys-Dietz syndrome
TGFB2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
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
TGFBR2	Orphanet:144	Lynch syndrome
TGFBR2	Orphanet:284973	Marfan syndrome type 2
TGFBR2	Orphanet:60030	Loeys-Dietz syndrome
TGFBR2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR2	Orphanet:99977	Squamous cell carcinoma of the esophagus
TGFBR3	Orphanet:231160	Familial cerebral saccular aneurysm
TNFRSF11B	Orphanet:1416	Familial calcium pyrophosphate deposition
TNFRSF11B	Orphanet:2801	Juvenile Paget disease
TRIP11	Orphanet:166272	Odontochondrodysplasia
TRIP11	Orphanet:93299	Achondrogenesis type 1A
WNT1	Orphanet:216812	Osteogenesis imperfecta type 3
WNT1	Orphanet:216820	Osteogenesis imperfecta type 4
WNT1	Orphanet:85193	Idiopathic juvenile osteoporosis

Cohort genes → proteins

75 cohort genes, 71 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	75

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ACTA2	HGNC:130	ENSG00000107796	P62736	Actin, aortic smooth muscle	gencc,clinvar
MYLK	HGNC:7590	ENSG00000065534	Q15746	Myosin light chain kinase, smooth muscle	gencc,clinvar
NOTCH1	HGNC:7881	ENSG00000148400	P46531	Neurogenic locus notch homolog protein 1	gencc,clinvar
PIEZO2	HGNC:26270	ENSG00000154864	Q9H5I5	Piezo-type mechanosensitive ion channel component 2	gencc
DCC	HGNC:2701	ENSG00000187323	P43146	Netrin receptor DCC	gencc
MYADML2	HGNC:34548	ENSG00000185105	A6NDP7	Myeloid-associated differentiation marker-like protein 2	gencc
ABL1	HGNC:76	ENSG00000097007	P00519	Tyrosine-protein kinase ABL1	gencc
P4HA1	HGNC:8546	ENSG00000122884	P13674	Prolyl 4-hydroxylase subunit alpha-1	gencc
SHOX	HGNC:10853	ENSG00000185960	O15266	Short stature homeobox protein	clinvar
SLC26A2	HGNC:10994	ENSG00000155850	P50443	Sulfate transporter	clinvar
SOX9	HGNC:11204	ENSG00000125398	P48436	Transcription factor SOX-9	clinvar
BTF3P11	HGNC:1126	ENSG00000118903		basic transcription factor 3 pseudogene 11	clinvar
TGFB2	HGNC:11768	ENSG00000092969	P61812	Transforming growth factor beta-2 proprotein	clinvar
TGFBR1	HGNC:11772	ENSG00000106799	P36897	TGF-beta receptor type-1	clinvar
TGFBR2	HGNC:11773	ENSG00000163513	P37173	TGF-beta receptor type-2	clinvar
TGFBR3	HGNC:11774	ENSG00000069702	Q03167	Transforming growth factor beta receptor type 3	clinvar
TNFRSF11B	HGNC:11909	ENSG00000164761	O00300	Tumor necrosis factor receptor superfamily member 11B	clinvar
TRIP11	HGNC:12305	ENSG00000100815	Q15643	Thyroid receptor-interacting protein 11	clinvar
WNT1	HGNC:12774	ENSG00000125084	P04628	Proto-oncogene Wnt-1	clinvar
NSDHL	HGNC:13398	ENSG00000147383	Q15738	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating	clinvar
IFT122	HGNC:13556	ENSG00000163913	Q9HBG6	Intraflagellar transport protein 122 homolog	clinvar
WNK4	HGNC:14544	ENSG00000126562	Q96J92	Serine/threonine-protein kinase WNK4	clinvar
CBS	HGNC:1550	ENSG00000160200	P35520	Cystathionine beta-synthase	clinvar
NDE1	HGNC:17619	ENSG00000072864	Q9NXR1	Nuclear distribution protein nudE homolog 1	clinvar
NTM	HGNC:17941	ENSG00000182667	Q9P121	Neurotrimin	clinvar
TRPV4	HGNC:18083	ENSG00000111199	Q9HBA0	Transient receptor potential cation channel subfamily V member 4	clinvar
WDR19	HGNC:18340	ENSG00000157796	Q8NEZ3	WD repeat-containing protein 19	clinvar
CLCN7	HGNC:2025	ENSG00000103249	P51798	H(+)/Cl(-) exchange transporter 7	clinvar
SLC35D1	HGNC:20800	ENSG00000116704	Q9NTN3	Nucleotide sugar transporter SLC35D1	clinvar
SLC39A13	HGNC:20859	ENSG00000165915	Q96H72	Zinc transporter ZIP13	clinvar
DYM	HGNC:21317	ENSG00000141627	Q7RTS9	Dymeclin	clinvar
COL11A1	HGNC:2186	ENSG00000060718	P12107	Collagen alpha-1(XI) chain	clinvar
COL11A2	HGNC:2187	ENSG00000204248	P13942	Collagen alpha-2(XI) chain	clinvar
COL1A1	HGNC:2197	ENSG00000108821	P02452	Collagen alpha-1(I) chain	clinvar
COL1A2	HGNC:2198	ENSG00000164692	P08123	Collagen alpha-2(I) chain	clinvar
COL2A1	HGNC:2200	ENSG00000139219	P02458	Collagen alpha-1(II) chain	clinvar
COL3A1	HGNC:2201	ENSG00000168542	P02461	Collagen alpha-1(III) chain	clinvar
COL5A1	HGNC:2209	ENSG00000130635	P20908	Collagen alpha-1(V) chain	clinvar
COL5A2	HGNC:2210	ENSG00000204262	P05997	Collagen alpha-2(V) chain	clinvar
COL9A1	HGNC:2217	ENSG00000112280	P20849	Collagen alpha-1(IX) chain	clinvar
COL9A2	HGNC:2218	ENSG00000049089	Q14055	Collagen alpha-2(IX) chain	clinvar
COL9A3	HGNC:2219	ENSG00000092758	Q14050	Collagen alpha-3(IX) chain	clinvar
COMP	HGNC:2227	ENSG00000105664	P49747	Cartilage oligomeric matrix protein	clinvar
ZNF469	HGNC:23216	ENSG00000225614	Q96JG9	Zinc finger protein 469	clinvar
TTC21B	HGNC:25660	ENSG00000123607	Q7Z4L5	Tetratricopeptide repeat protein 21B	clinvar
OFD1	HGNC:2567	ENSG00000046651	O75665	Centriole and centriolar satellite protein OFD1	clinvar
DDR2	HGNC:2731	ENSG00000162733	Q16832	Discoidin domain-containing receptor 2	clinvar
WDR35	HGNC:29250	ENSG00000118965	Q9P2L0	WD repeat-containing protein 35	clinvar
IFT80	HGNC:29262	ENSG00000068885	Q9P2H3	Intraflagellar transport protein 80 homolog	clinvar
IFT43	HGNC:29669	ENSG00000119650	Q96FT9	Intraflagellar transport protein 43 homolog	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ACTA2	Actin, aortic smooth muscle	Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
MYLK	Myosin light chain kinase, smooth muscle	Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC).
NOTCH1	Neurogenic locus notch homolog protein 1	Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination.
PIEZO2	Piezo-type mechanosensitive ion channel component 2	Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain.
DCC	Netrin receptor DCC	Receptor for netrin required for axon guidance.
ABL1	Tyrosine-protein kinase ABL1	Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autopha…
P4HA1	Prolyl 4-hydroxylase subunit alpha-1	Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.
SHOX	Short stature homeobox protein	Transcription factor that controls fundamental aspects of growth.
SLC26A2	Sulfate transporter	Sulfate transporter which mediates sulfate uptake into chondrocytes in order to maintain adequate sulfation of proteoglycans which is needed for cartilage development.
SOX9	Transcription factor SOX-9	Transcription factor that plays a key role in chondrocytes differentiation and skeletal development.
TGFB2	Transforming growth factor beta-2 proprotein	Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
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.
TGFBR2	TGF-beta receptor type-2	Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
TGFBR3	Transforming growth factor beta receptor type 3	Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis.
TNFRSF11B	Tumor necrosis factor receptor superfamily member 11B	Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis.
TRIP11	Thyroid receptor-interacting protein 11	Is a membrane tether required for vesicle tethering to Golgi.
WNT1	Proto-oncogene Wnt-1	Ligand for members of the frizzled family of seven transmembrane receptors.
NSDHL	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating	Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis.
IFT122	Intraflagellar transport protein 122 homolog	As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking.
WNK4	Serine/threonine-protein kinase WNK4	Serine/threonine-protein kinase component of the WNK4-SPAK/OSR1 kinase cascade, which acts as a key regulator of ion transport in the distal nephron and blood pressure.
CBS	Cystathionine beta-synthase	Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine.
NDE1	Nuclear distribution protein nudE homolog 1	Required for centrosome duplication and formation and function of the mitotic spindle.
NTM	Neurotrimin	Neural cell adhesion molecule.
TRPV4	Transient receptor potential cation channel subfamily V member 4	Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity.
WDR19	WD repeat-containing protein 19	As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly.
CLCN7	H(+)/Cl(-) exchange transporter 7	Slowly voltage-gated channel mediating the exchange of chloride ions against protons.
SLC35D1	Nucleotide sugar transporter SLC35D1	Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for either their cognate nucleoside monophosphate or another nucleotide sugar.
SLC39A13	Zinc transporter ZIP13	Functions as a zinc transporter transporting Zn(2+) from the Golgi apparatus to the cytosol and thus influences the zinc level at least in areas of the cytosol.
DYM	Dymeclin	Necessary for correct organization of Golgi apparatus.
COL11A1	Collagen alpha-1(XI) chain	May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
COL11A2	Collagen alpha-2(XI) chain	May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
COL1A1	Collagen alpha-1(I) chain	Type I collagen is a member of group I collagen (fibrillar forming collagen).
COL1A2	Collagen alpha-2(I) chain	Type I collagen is a member of group I collagen (fibrillar forming collagen).
COL2A1	Collagen alpha-1(II) chain	Type II collagen is specific for cartilaginous tissues.
COL3A1	Collagen alpha-1(III) chain	Collagen type III occurs in most soft connective tissues along with type I collagen.
COL5A1	Collagen alpha-1(V) chain	Type V collagen is a member of group I collagen (fibrillar forming collagen).
COL5A2	Collagen alpha-2(V) chain	Type V collagen is a member of group I collagen (fibrillar forming collagen).
COL9A1	Collagen alpha-1(IX) chain	Structural component of hyaline cartilage and vitreous of the eye.
COL9A2	Collagen alpha-2(IX) chain	Structural component of hyaline cartilage and vitreous of the eye.
COL9A3	Collagen alpha-3(IX) chain	Structural component of hyaline cartilage and vitreous of the eye.
COMP	Cartilage oligomeric matrix protein	Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin.
ZNF469	Zinc finger protein 469	May be involved in transcriptional regulation.
TTC21B	Tetratricopeptide repeat protein 21B	Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs).
OFD1	Centriole and centriolar satellite protein OFD1	Component of the centrioles controlling mother and daughter centrioles length.
DDR2	Discoidin domain-containing receptor 2	Tyrosine kinase involved in the regulation of tissues remodeling.
WDR35	WD repeat-containing protein 35	As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking.
IFT80	Intraflagellar transport protein 80 homolog	Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.
IFT43	Intraflagellar transport protein 43 homolog	As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis.
MFAP5	Microfibrillar-associated protein 5	May play a role in hematopoiesis.
EBP	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol.

Protein-family classification

Druggable: 26 · Difficult: 10 · Unknown: 39 · Druggable fraction: 0.35

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	9	3.3×	0.013
Antibody/Immunoglobulin	6	2.3×	0.196
Phosphatase	2	2.2×	0.564
Transporter	2	2.1×	0.564
Ion channel	1	1.5×	0.738
Scaffold/PPI	5	1.1×	0.738
Enzyme (other)	6	1.0×	0.775
Other/Unknown	39	0.9×	0.882
Transcription factor	5	0.6×	0.958

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ACTA2	Other/Unknown	no		Actin, Actin_CS, Actin/actin-like_CS
MYLK	Kinase	yes	2.7.11.18	Prot_kinase_dom, Ig_sub2, Ig_sub
NOTCH1	Scaffold/PPI	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Notch_dom
PIEZO2	Other/Unknown	no		Piezo, Piezo_cap_dom, Piezo_TM25-28
DCC	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
MYADML2	Other/Unknown	no		Marvel, MYADM-like
ABL1	Kinase	yes	2.7.10.2	Prot_kinase_dom, SH2, Ser-Thr/Tyr_kinase_cat_dom
P4HA1	Enzyme (other)	yes	1.14.11.2	Oxoglu/Fe-dep_dioxygenase_dom, Pro_4_hyd_alph, TPR-like_helical_dom_sf
SHOX	Transcription factor	no		HTH_motif, HD, OAR_dom
SLC26A2	Transporter	yes		SLC26A/SulP_fam, STAS_dom, SLC26A/SulP_dom
SOX9	Transcription factor	no		HMG_box_dom, Sox_N, HMG_box_dom_sf
BTF3P11	Other/Unknown	no
TGFB2	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGFb2
TGFBR1	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
TGFBR2	Kinase	yes	2.7.10.2	TGFB_receptor, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
TGFBR3	Other/Unknown	no		ZP_dom, ZP_dom_CS, ZP-C_dom
TNFRSF11B	Other/Unknown	no		Death_dom, TNFR/NGFR_Cys_rich_reg, DEATH-like_dom_sf
TRIP11	Other/Unknown	no		GRIP_dom
WNT1	Other/Unknown	no		Wnt, Wnt1, Wnt_CS
NSDHL	Enzyme (other)	yes	1.1.1.170	3Beta_OHSteriod_DH/Estase, NAD(P)-bd_dom_sf, Lipid_A_modif_metabolic_enz
IFT122	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
WNK4	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
CBS	Enzyme (other)	yes	4.2.1.22	CBS_dom, P-phosphate_BS, TrpB-like_PALP
NDE1	Other/Unknown	no		NUDE_dom, NUDE
NTM	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
TRPV4	Ion channel	yes		Ankyrin_rpt, Ion_trans_dom, TrpV1-4
WDR19	Transcription factor	no		WD40_rpt, TPR-like_helical_dom_sf, WD40/YVTN_repeat-like_dom_sf
CLCN7	Other/Unknown	no		CBS_dom, ClC, CIC-7
SLC35D1	Transporter	yes		Sugar_P_trans_dom, TPT_transporter
SLC39A13	Other/Unknown	no		ZIP
DYM	Other/Unknown	no		Dymeclin
COL11A1	Other/Unknown	no		Fib_collagen_C, Laminin_G, Collagen
COL11A2	Other/Unknown	no		Fib_collagen_C, Laminin_G, Collagen
COL1A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
COL1A2	Other/Unknown	no		Fib_collagen_C, Collagen, Collagen_superfamily
COL2A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
COL3A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
COL5A1	Other/Unknown	no		Fib_collagen_C, Laminin_G, Collagen
COL5A2	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
COL9A1	Other/Unknown	no		Collagen, ConA-like_dom_sf, TSPN-like_N
COL9A2	Other/Unknown	no		Collagen, Collagen_superfamily
COL9A3	Other/Unknown	no		Collagen, Collagen_superfamily
COMP	Other/Unknown	no		EGF, EGF-like_Ca-bd_dom, Thrombospondin_3-like_rpt
ZNF469	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, ZNF469
TTC21B	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, TTC21A/TTC21B
OFD1	Other/Unknown	no		LisH, OFD1
DDR2	Kinase	yes	2.7.10.1	FA58C, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
WDR35	Transcription factor	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WDR35
IFT80	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
IFT43	Other/Unknown	no		IFT43

Expression context

Cohort genes with no expression data: 0.

65 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)	75
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cartilage tissue	13
tibia	12
calcaneal tendon	8
skin of hip	6
stromal cell of endometrium	6
male germ line stem cell (sensu Vertebrata) in testis	5
periodontal ligament	5
saphenous vein	4
ventricular zone	4
right uterine tube	4
bronchial epithelial cell	4
tendon of biceps brachii	4
cauda epididymis	3
colonic epithelium	3
visceral pleura	3
corpus callosum	3
sural nerve	3
synovial joint	3
thoracic aorta	3
adrenal tissue	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ACTA2	289	ubiquitous	marker	cauda epididymis, blood vessel layer, saphenous vein
MYLK	289	ubiquitous	marker	cauda epididymis, saphenous vein, seminal vesicle
NOTCH1	272	ubiquitous	marker	ventricular zone, colonic epithelium, visceral pleura
PIEZO2	237	broad	marker	sural nerve, corpus callosum, dorsal root ganglion
DCC	154	broad	marker	cortical plate, right testis, left testis
MYADML2	84		yes	hindlimb stylopod muscle, gastrocnemius, skeletal muscle tissue of rectus abdominis
ABL1	283	ubiquitous	marker	frontal pole, paraflocculus, middle frontal gyrus
P4HA1	293	ubiquitous	marker	cartilage tissue, calcaneal tendon, tibia
SHOX	31	tissue_specific	yes	calcaneal tendon, subcutaneous adipose tissue, sural nerve
SLC26A2	282	ubiquitous	marker	colonic mucosa, mucosa of sigmoid colon, mucosa of transverse colon
SOX9	274	ubiquitous	marker	ventricular zone, cranial nerve II, hair follicle
BTF3P11	76		yes	male germ line stem cell (sensu Vertebrata) in testis, endometrium epithelium, Brodmann (1909) area 10
TGFB2	206	ubiquitous	marker	calcaneal tendon, tendon, cartilage tissue
TGFBR1	269	ubiquitous	marker	saphenous vein, tibia, visceral pleura
TGFBR2	289	ubiquitous	marker	pericardium, tibia, parietal pleura
TGFBR3	288	ubiquitous	marker	renal glomerulus, metanephric glomerulus, synovial joint
TNFRSF11B	201	ubiquitous	marker	cartilage tissue, ascending aorta, thoracic aorta
TRIP11	270	ubiquitous	marker	calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue
WNT1	73	tissue_specific	yes	granulocyte, nucleus accumbens, superior frontal gyrus
NSDHL	271	ubiquitous	marker	cervix squamous epithelium, adrenal tissue, esophagus mucosa
IFT122	250	ubiquitous	marker	right testis, left testis, right uterine tube
WNK4	177	broad	marker	kidney epithelium, renal medulla, lower esophagus mucosa
CBS	134	tissue_specific	marker	right lobe of liver, body of pancreas, liver
NDE1	134	ubiquitous	marker	colonic epithelium, ventricular zone, corpus callosum
NTM	231	ubiquitous	marker	right hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere
TRPV4	171	ubiquitous	marker	cartilage tissue, lower esophagus mucosa, olfactory segment of nasal mucosa
WDR19	269	ubiquitous	marker	right uterine tube, bronchial epithelial cell, adenohypophysis
CLCN7	296	ubiquitous	marker	metanephros cortex, right adrenal gland cortex, left adrenal gland cortex
SLC35D1	282	ubiquitous	marker	secondary oocyte, mucosa of sigmoid colon, colonic mucosa
SLC39A13	248	ubiquitous	marker	metanephros cortex, ascending aorta, thoracic aorta

Protein interactions among cohort

Intra-cohort edges: 107.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NOTCH1	7,411
ABL1	6,937
SMAD3	6,440
TGFBR2	5,777
LOX	5,479
COL1A1	5,341
FLNA	5,321
SOX9	4,935
TGFBR1	4,828
FGFR3	4,510

Intra-cohort edges

A	B	Sources
ALPL	COL1A1	string_interaction
ALPL	TNFRSF11B	string_interaction
ARSL	EBP	string_interaction
ARSL	SHOX	string_interaction
COL11A1	COL1A1	string_interaction
COL11A1	COL2A1	string_interaction
COL11A1	COL3A1	string_interaction
COL11A1	COL5A2	string_interaction
COL11A1	COL9A1	string_interaction
COL11A1	COL9A3	string_interaction
COL11A1	DDR2	string_interaction
COL11A2	COL2A1	string_interaction
COL11A2	COL5A1	string_interaction
COL11A2	DDR2	intact
COL1A1	COL1A2	intact
COL1A1	COL2A1	intact
COL1A1	COL3A1	string_interaction
COL1A1	COL5A1	intact, string_interaction
COL1A1	COL5A2	string_interaction
COL1A1	DDR2	string_interaction
COL1A1	EFEMP1	string_interaction
COL1A1	FBN1	string_interaction
COL1A1	LOX	intact
COL1A1	MFAP5	string_interaction
COL1A1	P4HA1	intact
COL1A1	TNFRSF11B	string_interaction
COL1A2	COL5A1	intact
COL1A2	LOX	intact
COL2A1	COL9A1	biogrid_interaction, intact, string_interaction
COL2A1	COL9A2	string_interaction
COL2A1	COL9A3	string_interaction
COL2A1	COMP	string_interaction
COL2A1	DDR2	string_interaction
COL2A1	FGFR3	intact, string_interaction
COL2A1	MATN3	intact
COL2A1	P4HA1	intact
COL2A1	SLC26A2	string_interaction
COL2A1	SOX9	string_interaction
COL2A1	TRIP11	string_interaction
COL3A1	COL5A1	string_interaction
COL3A1	COL5A2	string_interaction
COL3A1	DDR2	string_interaction
COL3A1	FBN1	string_interaction
COL3A1	FBN2	string_interaction
COL3A1	LOX	intact
COL3A1	MFAP5	string_interaction
COL5A1	COL5A2	string_interaction
COL5A1	DDR2	string_interaction
COL5A1	FBN1	string_interaction
COL5A1	ZNF469	string_interaction

Structural data

PDB: 49 · AlphaFold-only: 22 · No structure: 4

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABL1	P00519	85
TGFBR1	P36897	44
NOTCH1	P46531	29
FLNA	P21333	26
FLNB	O75369	23
TGFBR2	P37173	22
CBS	P35520	19
TRPV4	Q9HBA0	19
EIF2AK3	Q9NZJ5	15
FGFR3	P22607	15
COL1A1	P02452	14
SMAD3	P84022	12
TGFB2	P61812	11
COL2A1	P02458	11
COL3A1	P02461	11
FBN1	P35555	11
P4HA1	P13674	10
DCC	P43146	9
CLCN7	P51798	9
MYLK	Q15746	8
GLB1	P16278	8
LIFR	P42702	6
IFT122	Q9HBG6	5
COL1A2	P08123	5
COL9A1	P20849	5
DDR2	Q16832	5
ALPL	P05186	5
SLC26A2	P50443	4
WDR19	Q8NEZ3	4
COL9A2	Q14055	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PEX7	O00628	95.54
ACTA2	P62736	95.43
ARSL	P51690	92.57
IFT80	Q9P2H3	92.50
DYM	Q7RTS9	87.91
MYADML2	A6NDP7	86.63
WNT1	P04628	86.53
SLC35D1	Q9NTN3	80.98
MATN3	O15232	79.79
LDLRAD2	Q5SZI1	79.62
EFEMP1	Q12805	77.67
SLC39A13	Q96H72	76.33
OFD1	O75665	68.41
LOX	P28300	68.06
TRIP11	Q15643	66.78
MFAP5	Q13361	65.79
SHOX	O15266	63.90
COL5A2	P05997	53.15
COL11A1	P12107	53.06
COL11A2	P13942	50.18
ZNF469	Q96JG9
FBN2	P35556

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 372. Enrichment computed across 81 evidence-associated genes (69 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 69 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Assembly of collagen fibrils and other multimeric structures	12	34.8×	9e-14	COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2 (+4 more)
ECM proteoglycans	13	28.3×	9e-14	TGFB2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1 (+5 more)
Collagen chain trimerization	11	41.4×	1e-13	COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2 (+3 more)
Collagen biosynthesis and modifying enzymes	12	29.6×	4e-13	COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2 (+4 more)
Integrin cell surface interactions	12	23.4×	6e-12	COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2 (+4 more)
Collagen degradation	11	28.0×	7e-12	COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2 (+3 more)
Non-integrin membrane-ECM interactions	11	24.6×	3e-11	ACTA2, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1 (+3 more)
MET activates PTK2 signaling	8	44.1×	3e-10	COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2
Developmental Lineage of Pancreatic Ductal Cells	9	29.8×	5e-10	SOX9, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1 (+1 more)
Fibronectin matrix formation	6	49.6×	5e-08	COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2
Signaling by PDGF	7	25.8×	3e-07	COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3
NCAM1 interactions	7	25.2×	3e-07	COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3
Intraflagellar transport	7	20.3×	1e-06	TRIP11, IFT122, WDR19, TTC21B, WDR35, IFT80, IFT43
TGF-beta receptor signaling activates SMADs	6	28.4×	1e-06	TGFB2, TGFBR1, TGFBR2, TGFBR3, FBN1, SMAD3
TGFBR3 regulates TGF-beta signaling	4	82.8×	2e-06	TGFB2, TGFBR1, TGFBR2, TGFBR3
Syndecan interactions	5	30.6×	1e-05	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
Signaling by TGFBR3	5	26.7×	2e-05	TGFB2, TGFBR1, TGFBR2, TGFBR3, SMAD3
Elastic fibre formation	5	24.3×	3e-05	TGFB2, MFAP5, FBN1, FBN2, LOX
Loss of Function of TGFBR1 in Cancer	3	99.3×	4e-05	TGFBR1, TGFBR2, SMAD3
Molecules associated with elastic fibres	5	22.4×	5e-05	TGFB2, MFAP5, EFEMP1, FBN1, FBN2
Loss of Function of SMAD2/3 in Cancer	3	82.8×	6e-05	TGFBR1, TGFBR2, SMAD3
Signaling by TGF-beta Receptor Complex in Cancer	3	82.8×	6e-05	TGFBR1, TGFBR2, SMAD3
SMAD2/3 Phosphorylation Motif Mutants in Cancer	3	82.8×	6e-05	TGFBR1, TGFBR2, SMAD3
TGFBR1 KD Mutants in Cancer	3	82.8×	6e-05	TGFBR1, TGFBR2, SMAD3
Signaling by TGF-beta Receptor Complex	5	14.5×	3e-04	TGFB2, TGFBR1, TGFBR2, TGFBR3, SMAD3
Cholesterol biosynthesis via desmosterol (Bloch pathway)	3	49.6×	4e-04	NSDHL, EBP, LBR
Hedgehog ‘off’ state	5	12.9×	6e-04	IFT122, WDR19, TTC21B, OFD1, WDR35
GP1b-IX-V activation signalling	3	41.4×	6e-04	COL1A1, COL1A2, FLNA
Loss of Function of TGFBR2 in Cancer	2	110.3×	0.001	TGFBR1, TGFBR2
TGFBR2 Kinase Domain Mutants in Cancer	2	110.3×	0.001	TGFBR1, TGFBR2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 74 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
skeletal system development	20	34.0×	1e-22	SHOX, SOX9, TGFB2, TGFBR1, TNFRSF11B, COL11A2, COL1A1, COL1A2 (+12 more)
collagen fibril organization	14	42.5×	7e-17	TGFB2, TGFBR1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1 (+6 more)
endochondral ossification	7	51.4×	2e-08	CBS, COL1A1, COL2A1, IFT80, FGFR3, ALPL, PEX7
cellular response to transforming growth factor beta stimulus	8	29.9×	6e-08	ACTA2, SOX9, TGFBR1, COL1A1, DDR2, FBN1, SMAD3, ABL1
bone mineralization	8	29.4×	6e-08	SOX9, COL1A2, COMP, EIF2AK3, FGFR3, ALPL, LOX, PTH1R
intraciliary retrograde transport	5	75.9×	8e-07	IFT122, WDR19, TTC21B, WDR35, IFT43
cartilage development involved in endochondral bone morphogenesis	4	130.1×	2e-06	CBS, TRPV4, COL1A1, COL2A1
cartilage condensation	5	51.8×	5e-06	SOX9, TGFB2, COL11A1, COL2A1, PKD1
cilium assembly	10	9.9×	7e-06	NOTCH1, IFT122, WDR19, TTC21B, OFD1, WDR35, IFT80, IFT43 (+2 more)
embryonic eye morphogenesis	4	82.8×	1e-05	MFAP5, EFEMP1, FBN1, FBN2
epithelial to mesenchymal transition	6	25.3×	1e-05	NOTCH1, SOX9, TGFB2, TGFBR1, TGFBR2, TGFBR3
chondrocyte differentiation	6	24.4×	1e-05	SLC26A2, SOX9, COL2A1, COL3A1, FGFR3, PTH1R
tendon development	3	170.8×	2e-05	COL11A1, COL5A1, COMP
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	3	170.8×	2e-05	TGFB2, TGFBR1, TGFBR2
cardiac epithelial to mesenchymal transition	4	65.1×	2e-05	NOTCH1, TGFB2, TGFBR1, TGFBR3
transforming growth factor beta receptor signaling pathway	7	15.0×	3e-05	TGFB2, TGFBR1, TGFBR2, TGFBR3, COL1A2, COL3A1, SMAD3
heart development	9	9.6×	3e-05	NOTCH1, SOX9, TGFB2, TGFBR1, TGFBR2, COL3A1, FBN1, LOX (+1 more)
cartilage development	6	20.4×	3e-05	SOX9, TRIP11, COL11A2, COL2A1, MATN3, PKD1
chondrocyte proliferation	4	56.9×	4e-05	SLC26A2, COMP, DDR2, FGFR3
skin development	5	30.0×	4e-05	COL3A1, COL5A1, COL5A2, COMP, PKD1
ventricular septum morphogenesis	5	29.2×	4e-05	NOTCH1, TGFB2, TGFBR1, TGFBR2, TGFBR3
positive regulation of SMAD protein signal transduction	5	25.9×	7e-05	TGFB2, TGFBR1, TGFBR2, TGFBR3, SMAD3
positive regulation of epithelial to mesenchymal transition	5	21.5×	2e-04	TGFB2, TGFBR1, TGFBR2, COL1A1, SMAD3
negative regulation of chondrocyte differentiation	4	36.4×	2e-04	SOX9, TGFBR1, EFEMP1, NKX3-2
positive regulation of extracellular matrix assembly	3	75.9×	3e-04	SOX9, TGFBR1, SMAD3
animal organ regeneration	4	32.5×	3e-04	NOTCH1, TGFBR3, WNT1, HSPG2
embryonic cranial skeleton morphogenesis	4	31.4×	3e-04	TGFBR1, TGFBR2, WDR19, SMAD3
cardiac muscle cell proliferation	4	31.4×	3e-04	NOTCH1, TGFB2, TGFBR3, ABL1
in utero embryonic development	8	7.8×	3e-04	NOTCH1, TGFBR1, TGFBR2, WDR19, COL3A1, SMAD3, PKD1, PTH1R
elastic fiber assembly	3	62.1×	5e-04	COL3A1, LOX, MYH11

Therapeutics

Drug target analysis

Approved (phase 4): 12 · Phase ≥3: 14 · Phased (≥1): 19 · Undrugged: 56

Druggability breadth: 38 of 81 evidence-associated genes (47%) 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
MYLK	PONATINIB
ABL1	PONATINIB
TGFBR1	MOMELOTINIB
TGFBR2	PONATINIB
DDR2	PONATINIB
EBP	TRIFLUPERIDOL
FGFR3	PONATINIB
GLB1	MIGALASTAT
ALPL	SULCONAZOLE NITRATE
LOX	PYRITHIONE
SMAD3	FLUORESCEIN
NEK1	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ABL1	122	4
FGFR3	64	4
DDR2	59	4
MYLK	28	4
TGFBR1	28	4
TGFBR2	22	4
EBP	16	4
NEK1	12	4
ALPL	7	4
TRPV4	6	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONATINIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR2
AFATINIB	4	ABL1, MYLK
FEDRATINIB	4	ABL1, DDR2, FGFR3, MYLK, NEK1, TGFBR2
RUXOLITINIB	4	ABL1, MYLK
NIFEDIPINE	4	MYLK
BOSUTINIB	4	ABL1, DDR2, MYLK
GILTERITINIB	4	MYLK
TOVORAFENIB	4	ABL1, DDR2, MYLK, TGFBR2
NINTEDANIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR1
SUNITINIB	4	ABL1, DDR2, FGFR3, MYLK
DASATINIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR1, TGFBR2
QUIZARTINIB	4	ABL1, DDR2, MYLK
MIDOSTAURIN	4	ABL1, FGFR3, MYLK
TIVOZANIB	4	ABL1, DDR2
LENVATINIB	4	ABL1, DDR2, FGFR3
AXITINIB	4	ABL1, DDR2, FGFR3
SORAFENIB	4	ABL1, DDR2, FGFR3, TGFBR2
DASATINIB ANHYDROUS	4	ABL1, DDR2
IMATINIB MESYLATE	4	ABL1
NERATINIB	4	ABL1
INFIGRATINIB PHOSPHATE	4	ABL1, FGFR3
INFIGRATINIB	4	ABL1, FGFR3
IBRUTINIB	4	ABL1
REGORAFENIB	4	ABL1, DDR2
ENTRECTINIB	4	ABL1, FGFR3
DABRAFENIB	4	ABL1, NEK1, TGFBR1, TGFBR2
TOFACITINIB CITRATE	4	ABL1
AFATINIB DIMALEATE	4	ABL1
CABOZANTINIB	4	ABL1, DDR2
TOFACITINIB	4	ABL1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 14.

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

Symbol	Assays	Type breakdown
ABL1	3,282	Binding:3254, ADMET:16, Functional:10, Toxicity:2
FGFR3	975	Binding:948, Functional:18, ADMET:9
TGFBR1	541	Binding:516, Functional:13, ADMET:12
DDR2	389	Binding:386, ADMET:3
MYLK	303	Binding:303
NEK1	288	Binding:288
TGFBR2	188	Binding:188
EIF2AK3	153	Binding:151, Functional:2
GLB1	124	Binding:123, ADMET:1
TRPV4	99	Binding:94, Functional:5
WNK4	63	Binding:63
ALPL	58	Binding:50, Functional:4, ADMET:3, Toxicity:1
EBP	57	Binding:34, Functional:23
SMAD3	24	Binding:18, Functional:6
NOTCH1	23	Binding:19, ADMET:4
CBS	22	Binding:22
LOX	15	Binding:15
WNT1	10	Binding:10
COL1A1	8	Binding:8
FLNA	7	Binding:7
P4HA1	6	Binding:6
LIFR	6	Binding:6
COL1A2	4	Functional:4
SOX9	3	Binding:3
TGFB2	3	Binding:3
COL2A1	2	Binding:2
FLNB	2	Binding:2
HSPG2	2	Binding:2
LBR	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MYLK	2.7.11.18	myosin-light-chain kinase
ABL1	2.7.10.2	non-specific protein-tyrosine kinase
P4HA1	1.14.11.2	procollagen-proline 4-dioxygenase
TGFBR1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase
TGFBR2	2.7.10.2	non-specific protein-tyrosine kinase
NSDHL	1.1.1.170	3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)
CBS	4.2.1.22	cystathionine beta-synthase
DDR2	2.7.10.1	receptor protein-tyrosine kinase
EBP	5.3.3.5	cholestenol DELTA-isomerase
EIF2AK3	2.7.11.1	non-specific serine/threonine protein kinase
FGFR3	2.7.10.1	receptor protein-tyrosine kinase
ALPL	3.1.3.1	alkaline phosphatase
LBR	1.3.1.70	DELTA14-sterol reductase
LOX	1.4.3.13	protein-lysine 6-oxidase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
MYLK	303
ABL1	3,282
TGFBR1	541
TGFBR2	188
DDR2	389
EIF2AK3	153
FGFR3	975
GLB1	124
NEK1	288

Pharmacogenomics

Cohort genes with a PharmGKB record: 72; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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)
PONATINIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR2
AFATINIB	4	ABL1, MYLK
FEDRATINIB	4	ABL1, DDR2, FGFR3, MYLK, NEK1, TGFBR2
RUXOLITINIB	4	ABL1, MYLK
NIFEDIPINE	4	MYLK
BOSUTINIB	4	ABL1, DDR2, MYLK
GILTERITINIB	4	MYLK
TOVORAFENIB	4	ABL1, DDR2, MYLK, TGFBR2
NINTEDANIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR1
SUNITINIB	4	ABL1, DDR2, FGFR3, MYLK
DASATINIB	4	ABL1, DDR2, FGFR3, MYLK, TGFBR1, TGFBR2
QUIZARTINIB	4	ABL1, DDR2, MYLK
MIDOSTAURIN	4	ABL1, FGFR3, MYLK
TIVOZANIB	4	ABL1, DDR2
LENVATINIB	4	ABL1, DDR2, FGFR3
AXITINIB	4	ABL1, DDR2, FGFR3
SORAFENIB	4	ABL1, DDR2, FGFR3, TGFBR2
DASATINIB ANHYDROUS	4	ABL1, DDR2
IMATINIB MESYLATE	4	ABL1
NERATINIB	4	ABL1
INFIGRATINIB PHOSPHATE	4	ABL1, FGFR3
INFIGRATINIB	4	ABL1, FGFR3
IBRUTINIB	4	ABL1
REGORAFENIB	4	ABL1, DDR2
ENTRECTINIB	4	ABL1, FGFR3
DABRAFENIB	4	ABL1, NEK1, TGFBR1, TGFBR2
TOFACITINIB CITRATE	4	ABL1
AFATINIB DIMALEATE	4	ABL1
CABOZANTINIB	4	ABL1, DDR2
TOFACITINIB	4	ABL1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	12	MYLK, ABL1, TGFBR1, TGFBR2, DDR2, EBP, FGFR3, GLB1, ALPL, LOX (+2 more)
B	Phased (≥1) drug, not yet approved	7	NOTCH1, TGFB2, WNT1, CBS, TRPV4, EIF2AK3, FLNA
C	Druggable family + PDB, no drug	10	DCC, P4HA1, SLC26A2, NSDHL, WNK4, NTM, FLNB, HSPG2, LBR, LIFR
D	Druggable family + AlphaFold only, no drug	2	SLC35D1, ARSL
E	Difficult family or no structure, no drug	44	ACTA2, PIEZO2, MYADML2, SHOX, SOX9, BTF3P11, TGFBR3, TNFRSF11B, TRIP11, IFT122 (+34 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
PIEZO2	0	TRPV4
TGFBR3	0	TGFBR1, TGFBR2
NSDHL	0	EBP
ARSL	0	EBP
ACTA2	0	—
DCC	0	—
MYADML2	0	—
P4HA1	6	—
SHOX	0	—
SLC26A2	0	—
SOX9	3	—
BTF3P11	0	—
TNFRSF11B	0	—
TRIP11	0	—
IFT122	0	—
WNK4	63	—
NDE1	0	—
NTM	0	—
WDR19	0	—
CLCN7	0	—
SLC35D1	0	—
SLC39A13	0	—
DYM	0	—
COL11A1	0	—
COL11A2	0	—
COL1A1	8	—
COL1A2	4	—
COL2A1	2	—
COL3A1	0	—
COL5A1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 83.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	50
PHASE3	9
PHASE4	8
PHASE2	8
PHASE1	5
PHASE2/PHASE3	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT03683186	PHASE3	ENROLLING_BY_INVITATION	A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension
NCT06716606	PHASE3	RECRUITING	A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT00864201	PHASE3	UNKNOWN	A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01424033	PHASE2/PHASE3	TERMINATED	A Clinical Trial for CTD-ILD Treatment
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT03626688	PHASE3	COMPLETED	A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
NCT04915482	PHASE2/PHASE3	UNKNOWN	TPO-RAs Combined With Anti-CD20 Antibody in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT04993885	PHASE2	RECRUITING	Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT05998759	PHASE2	RECRUITING	Telitacicept for the Treatment of Connective Tissue Disease-associated Thrombocytopenia
NCT06104228	PHASE2	RECRUITING	129 Xenon MRI as a Biomarker for Diagnosis and Response to Therapy in Pulmonary Arterial Hypertension (PAH)
NCT06574581	PHASE1/PHASE2	RECRUITING	ADSCs Therapy in Patients With CTD-ILD
NCT00004357	PHASE2	COMPLETED	Absorption of Corticosteroids in Children With Juvenile Dermatomyositis
NCT00005675	PHASE2	COMPLETED	Oral Type I Collagen for Relieving Scleroderma
NCT01808196	PHASE2	COMPLETED	Testing Effectiveness of Losartan in Patients With EoE With or Without a CTD
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
NCT01093911	PHASE1	COMPLETED	Safety Study of CDP7657 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus (SLE)
NCT01764594	PHASE1	COMPLETED	Safety Study of CDP7657 in Patients With Systemic Lupus Erythematosus
NCT02392130	PHASE1	COMPLETED	A Clinical Trial to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin
NCT03337165	PHASE1	COMPLETED	Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis
NCT03929120	PHASE1	COMPLETED	Allogeneic Bone Marrow Mesenchymal Stem Cells for Patients With Interstitial Lung Disease (ILD) & Connective Tissue Disorders (CTD)
NCT00470327	Not specified	RECRUITING	A Study of the Natural Progression of Interstitial Lung Disease (ILD)
NCT04095351	Not specified	RECRUITING	Connective Tissue Diseases and Lung Manifestations
NCT04398628	Not specified	RECRUITING	ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
NCT04896138	Not specified	ENROLLING_BY_INVITATION	University of Virginia Natural History Study
NCT04918524	Not specified	RECRUITING	The Clinical Features and Pregnancy Outcomes of CTD Patients
NCT05665556	Not specified	RECRUITING	REgistry of Pulmonary Arterial Hypertension Associated With CONNECTIVE Tissue Diseases (RECONNECTIVE)
NCT05980728	Not specified	NOT_YET_RECRUITING	Connective Tissue Disease Patients With Pulmonary Hypertension

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PIRFENIDONE	4	2
ACETYLCYSTEINE	4	1
AVATROMBOPAG	4	1
BELIMUMAB	4	1
BOSENTAN	4	1
CLOBETASOL PROPIONATE	4	1
PREDNISONE	4	1
SACUBITRIL	4	1
SIROLIMUS	4	1
SULFAMETHOXAZOLE	4	1
TADALAFIL	4	1
TRIMETHOPRIM	4	1
RALINEPAG	3	3
TABALUMAB	3	3
DAPIROLIZUMAB PEGOL	3	2
TELITACICEPT	3	1
IFETROBAN	2	1
PERESOLIMAB	2	1
CHEMBL139521	0	1
CHEMBL177542	0	1
CHEMBL4244897	0	1
CHEMBL15720	0	1
CHEMBL5435500	0	1