Interstitial lung disease

Summary

Interstitial lung disease (MONDO:0015925) is a disease (an umbrella term covering 14 Mondo subtypes) caused by LAMP3 (GenCC Strong), with 25 cohort genes (65 GWAS associations across 21 studies) and 392 clinical trials. Top therapeutic interventions include treprostinil, pirfenidone, and tofacitinib.

At a glance

• Prevalence: 1-5 / 10 000 (Greece) [Orphanet-validated]
• Causal gene: LAMP3 (GenCC Strong)
• Umbrella term: 14 Mondo subtypes
• Cohort genes: 25
• GWAS associations: 65
• ClinVar variants: 13
• Clinical trials: 392

Clinical features

Epidemiology

Prevalence records

5 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	4.1	Denmark	Validated
Annual incidence	1-9 / 100 000	7.6	Spain	Validated
Annual incidence	1-9 / 100 000	4.63	Greece	Validated
Point prevalence	1-5 / 10 000	17.3	Greece	Validated
Annual incidence	1-9 / 100 000	5.4	Europe	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	interstitial lung disease
Mondo ID	MONDO:0015925
EFO	EFO:0004244
MeSH	D017563
Orphanet	182095
DOID	DOID:3082
ICD-10-CM	J80-J84
NCIT	C164315
SNOMED CT	233703007
UMLS	C5441745
MedGen	1788738
MedDRA	10022611
Anatomy (UBERON)	UBERON:0008946
Is cancer (heuristic)	no

Also known as: ILD · interstitial lung disease

Data availability: 13 ClinVar variants · 65 GWAS associations (21 studies) · 3 GenCC gene-disease records.

Disease family

An umbrella term covering 14 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › interstitial lung disease

Related subtypes (32): aspiration pneumonia, lung abscess, pneumonic plague, pulmonary alveolar proteinosis, pulmonary systemic sclerosis, obstructive lung disease, bronchiolitis, pulmonary immaturity, rheumatoid arthritis-associated interstitial lung disease, pulmonary embolism and infarction, acute chest syndrome, fungal lung infectious disease, middle lobe syndrome, pulmonary coin lesion, pulmonary plasma cell granuloma, silo filler disease, pulmonary alveolar microlithiasis, pulmonary venoocclusive disease, acute lung injury, hantavirus pulmonary syndrome, pulmonary non-tuberculous mycobacterial infection, respiratory failure, lung neoplasm, occupational lung disease, Wilson-Mikity syndrome, neonatal aspiration syndrome, pneumonitis, vanishing lung syndrome, restrictive pulmonary disease, shrinking lung syndrome, dystrophic pulmonary ossification, pulmonary artery disease

Subtypes (14): pulmonary fibrosis, bronchiolitis obliterans syndrome, pneumoconiosis, pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome, interstitial lung disease specific to childhood, isolated pulmonary capillaritis, interstitial lung disease specific to adulthood, drug or radiation exposure-related interstitial lung disease, hypersensitivity pneumonitis, secondary pulmonary hemosiderosis, inherited interstitial lung disease, radiation pneumonitis, bronchiolocentric pattern of interstitial pneumonia, idiopathic pulmonary fibrosis

Genetics & variants

GWAS landscape

65 GWAS associations across 21 studies. Top hits map to 36 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs35705950	1e-76	MUC5AC - MUC5B	T	1.01
rs2021408	2e-62	HLA-DPB1, HLA-DPA1	C	2.68
rs7934606	7e-34	MUC2	T	1.52
rs7734992	4e-20	TERT	C	0.24
rs2076295	1e-19	DSP	G	1.43
rs2736100	2e-19	TERT	A	1.37
rs1981997	9e-14	MAPT	G	1.41
rs6793295	8e-13	LRRC34	C	1.3
rs12610495	2e-12	DPP9	G	1.29
rs2034650	1e-11	IVD	A	1.3
rs2609255	2e-11	FAM13A	G	1.29
rs116483731	2e-11	SPDL1	A	0.81
rs7739124	3e-09	HTR1E - RN7SKP209	C	1.31
rs2957316	3e-09	MAPK8IP1P1 - ARL17B	C	0.26
rs912535	4e-09	HTR1E - RN7SKP209	G	1.37
rs73199442	5e-09	LINC00882	T	1.68
rs1278769	7e-09	ATP11A	G	1.27
rs6477542	7e-09	LINC01505	T	1.34
rs116906005	8e-09	DUS2	T	1.12
rs4727443	1e-08	AZGP1P1 - ZKSCAN1	C	1.3
rs6578890	1e-08	PPFIBP2	?	4.32
rs11191865	2e-08	STN1	A	1.25
rs12702634	2e-08	RPA3, UMAD1	C	2.04
rs561398374	2e-08	PLPPR1	A	14.1
rs6886640	4e-08	ISCA1P1 - HTR1A	G	1.28
rs7744971	4e-08	HTR1E - RN7SKP209	G	1.32
rs57919238	4e-08	NBEA	A	1.48
rs6631122	5e-08	CKS1BP6 - FTLP2	G	0.12
rs1379326	1e-07	CSMD1	C	1.78
rs7005380	2e-07	DEPTOR	G	1.25

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473724	UK Biobank Whole-Genome Sequencing Consortium	2025	4,477	453,963	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90018863	Sakaue S	2021	2,267	467,560	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90080147	Backman JD	2021	1,577	386,114	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084133	Backman JD	2021	1,577	386,114	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080146	Backman JD	2021	1,304	386,553	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084132	Backman JD	2021	1,304	386,553	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST009501	Hobbs BD	2019	1,181	7,255	Overlap of Genetic Risk Between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis.
GCST001968	Fingerlin TE	2013	1,161	4,683	Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
GCST90018643	Sakaue S	2021	1,046	176,974	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST009502	Hobbs BD	2019	965	7,255	Overlap of Genetic Risk Between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	2
Tier 3: regulatory	0
Tier 4: intronic/intergenic	46

MAF distribution

Bucket	Variants
common (>=0.05)	45
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	2

Functional consequences

Consequence	Count
intron_variant	30
intergenic_variant	14
missense_variant	2
non_coding_transcript_exon_variant	2
splice_region_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs35705950	11	1219991	G>A,T	0.05	splice_region_variant	MUC5AC - MUC5B	1e-76	Tier 2: splice/UTR
rs2021408	6	33078949	T>C	0.178	intron_variant	HLA-DPB1, HLA-DPA1	2e-62	Tier 4: intronic/intergenic
rs7934606	11	1100037	C>A,G,T	0.42	intron_variant	MUC2	7e-34	Tier 4: intronic/intergenic
rs7734992	5	1280013	T>A,C	0.05	intron_variant	TERT	4e-20	Tier 4: intronic/intergenic
rs2076295	6	7562999	T>A,C,G	0.44	intron_variant	DSP	1e-19	Tier 4: intronic/intergenic
rs2736100	5	1286401	C>A,G,T	0.49	intron_variant	TERT	2e-19	Tier 4: intronic/intergenic
rs1981997	17	45979401	G>A	0.23	intron_variant	MAPT	9e-14	Tier 4: intronic/intergenic
rs6793295	3	169800667	T>A,C,G	0.26	missense_variant	LRRC34	8e-13	Tier 1: coding
rs12610495	19	4717660	A>G,T	0.29	intron_variant	DPP9	2e-12	Tier 4: intronic/intergenic
rs2034650	15	40425103	G>A,C,T	0.49	intergenic_variant	IVD	1e-11	Tier 4: intronic/intergenic
rs2609255	4	88890044	G>T	0.21	intron_variant	FAM13A	2e-11	Tier 4: intronic/intergenic
rs116483731	5	169588475	G>A,T		missense_variant	SPDL1	2e-11	Tier 1: coding
rs7739124	6	87040097	C>A	0.33	intergenic_variant	HTR1E - RN7SKP209	3e-09	Tier 4: intronic/intergenic
rs2957316	17	46253848	T>C	0.05	intron_variant	MAPK8IP1P1 - ARL17B	3e-09	Tier 4: intronic/intergenic
rs912535	6	87042603	G>A,C,T	0.324	intergenic_variant	HTR1E - RN7SKP209	4e-09	Tier 4: intronic/intergenic
rs73199442	3	106852176	A>T	0.06	intron_variant	LINC00882	5e-09	Tier 4: intronic/intergenic
rs1278769	13	112882313	A>G,T	0.24	3_prime_UTR_variant	ATP11A	7e-09	Tier 2: splice/UTR
rs6477542	9	106745151	C>G,T	0.445	intergenic_variant	LINC01505	7e-09	Tier 4: intronic/intergenic
rs116906005	16	68050160	C>T	0.02	intron_variant	DUS2	8e-09	Tier 4: intronic/intergenic
rs4727443	7	99995723	C>A,G	0.39	intergenic_variant	AZGP1P1 - ZKSCAN1	1e-08	Tier 4: intronic/intergenic
rs6578890	11	7647630	A>G	0.05	intron_variant	PPFIBP2	1e-08	Tier 4: intronic/intergenic
rs11191865	10	103913084	G>A	0.49	intron_variant	STN1	2e-08	Tier 4: intronic/intergenic
rs12702634	7	7672101	C>G,T	0.081	intron_variant	RPA3, UMAD1	2e-08	Tier 4: intronic/intergenic
rs561398374	9	101262492	C>A		intron_variant	PLPPR1	2e-08	Tier 4: intronic/intergenic
rs6886640	5	62876649	G>A,C,T	0.38	intergenic_variant	ISCA1P1 - HTR1A	4e-08	Tier 4: intronic/intergenic
rs7744971	6	87028123	A>G	0.28	intergenic_variant	HTR1E - RN7SKP209	4e-08	Tier 4: intronic/intergenic
rs57919238	13	35459015	C>A,G	0.205	intron_variant	NBEA	4e-08	Tier 4: intronic/intergenic
rs6631122	X	30621617	T>A,G	0.05	intergenic_variant	CKS1BP6 - FTLP2	5e-08	Tier 4: intronic/intergenic
rs1379326	8	4760288	T>A,C,G	0.26	intron_variant	CSMD1	1e-07	Tier 4: intronic/intergenic
rs7005380	8	119941633	G>A,C,T	0.37	intron_variant	DEPTOR	2e-07	Tier 4: intronic/intergenic

ClinVar germline variants

13 retrieved; paginated sample, class counts are floors:

4 association, 4 benign; association, 2 pathogenic/likely pathogenic, 1 uncertain significance, 1 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
916674	NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	TERT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
916632	NM_198253.3(TERT):c.347C>T (p.Thr116Ile)	TERT	Likely pathogenic	criteria provided, multiple submitters, no conflicts
916671	NM_198253.3(TERT):c.230T>C (p.Leu77Pro)	LOC110806263	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
884833	NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)	ABCA3	Uncertain significance	criteria provided, multiple submitters, no conflicts
972888	NM_007365.3(PADI2):c.*258A>T	PADI2	association	no assertion criteria provided
972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	association	no assertion criteria provided
972890	NM_007365.3(PADI2):c.729T>G (p.Gly243=)	PADI2	association	no assertion criteria provided
972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	association	no assertion criteria provided
972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4	Benign; association	no assertion criteria provided
972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4	Benign; association	no assertion criteria provided
972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Benign; association	no assertion criteria provided
972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4	Benign; association	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 48 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
TERT	TERT	GWAS, Orphanet
MUC5B	MUC5B	GWAS, GenCC, Orphanet

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
LAMP3	Strong	Autosomal recessive	interstitial lung disease
ARHGAP42	Limited	Autosomal recessive	interstitial lung disease
MUC5B	Limited	Autosomal recessive	interstitial lung disease	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TERT	Orphanet:146	Differentiated thyroid carcinoma
TERT	Orphanet:1501	Adrenocortical carcinoma
TERT	Orphanet:1775	Dyskeratosis congenita
TERT	Orphanet:2032	Idiopathic pulmonary fibrosis
TERT	Orphanet:2495	Meningioma
TERT	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
TERT	Orphanet:457246	Clear cell sarcoma of kidney
TERT	Orphanet:618	Familial melanoma
TERT	Orphanet:88	Idiopathic aplastic anemia
MUC5B	Orphanet:171700	Diffuse panbronchiolitis
MUC5B	Orphanet:2032	Idiopathic pulmonary fibrosis
MUC5B	Orphanet:686465	Fibrotic hypersensitivity pneumonitis
ATP11A	Orphanet:2032	Idiopathic pulmonary fibrosis
ATP11A	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
DPP9	Orphanet:2032	Idiopathic pulmonary fibrosis
PMPCA	Orphanet:1170	Autosomal recessive cerebelloparenchymal disorder type 3
FAM13A	Orphanet:2032	Idiopathic pulmonary fibrosis
INPP5E	Orphanet:1454	Joubert syndrome with hepatic defect
INPP5E	Orphanet:220493	Joubert syndrome with ocular defect
INPP5E	Orphanet:475	Isolated Joubert syndrome
INPP5E	Orphanet:75858	MORM syndrome
STN1	Orphanet:2032	Idiopathic pulmonary fibrosis
STN1	Orphanet:313838	Coats plus syndrome
DSP	Orphanet:154	Familial isolated dilated cardiomyopathy
DSP	Orphanet:158687	Lethal acantholytic erosive disorder
DSP	Orphanet:2032	Idiopathic pulmonary fibrosis
DSP	Orphanet:293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
DSP	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
DSP	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
DSP	Orphanet:369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome
DSP	Orphanet:476096	Erythrokeratodermia-cardiomyopathy syndrome
DSP	Orphanet:50942	Striate palmoplantar keratoderma
DSP	Orphanet:65282	Carvajal syndrome
ABCA3	Orphanet:2032	Idiopathic pulmonary fibrosis
ABCA3	Orphanet:217563	Neonatal acute respiratory distress syndrome
ABCA3	Orphanet:440402	Interstitial lung disease due to ABCA3 deficiency
ABCA3	Orphanet:685082	Pediatric acute respiratory distress syndrome
GJA5	Orphanet:3303	Tetralogy of Fallot
GJA5	Orphanet:334	Hereditary atrial fibrillation
MAPT	Orphanet:100069	Semantic dementia
MAPT	Orphanet:100070	Progressive non-fluent aphasia
MAPT	Orphanet:240071	Classic progressive supranuclear palsy syndrome
MAPT	Orphanet:240085	Progressive supranuclear palsy-predominant parkinsonism syndrome
MAPT	Orphanet:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
MAPT	Orphanet:240103	Progressive supranuclear palsy-corticobasal syndrome
MAPT	Orphanet:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
MAPT	Orphanet:275864	Behavioral variant of frontotemporal dementia

Cohort genes → proteins

25 cohort genes, 24 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	16
gwas_and_gencc	1
gwas_and_clinvar	1
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TERT	HGNC:11730	ENSG00000164362	O14746	Telomerase reverse transcriptase	gwas,clinvar
MUC5B	HGNC:7516	ENSG00000117983	Q9HC84	Mucin-5B	gwas,gencc
LAMP3	HGNC:14582	ENSG00000078081	Q9UQV4	Lysosome-associated membrane glycoprotein 3	gencc
ARHGAP42	HGNC:26545	ENSG00000165895	A6NI28	Rho GTPase-activating protein 42	gencc
RPA3	HGNC:10291	ENSG00000106399	P35244	Replication protein A 14 kDa subunit	gwas
ATP11A	HGNC:13552	ENSG00000068650	P98196	Phospholipid-transporting ATPase IH	gwas
PADI2	HGNC:18341	ENSG00000117115	Q9Y2J8	Protein-arginine deiminase type-2	clinvar
PADI4	HGNC:18368	ENSG00000159339	Q9UM07	Protein-arginine deiminase type-4	clinvar
DPP9	HGNC:18648	ENSG00000142002	Q86TI2	Dipeptidyl peptidase 9	gwas
PMPCA	HGNC:18667	ENSG00000165688	Q10713	Mitochondrial-processing peptidase subunit alpha	clinvar
FAM13A	HGNC:19367	ENSG00000138640	O94988	Protein FAM13A	gwas
IPO11	HGNC:20628	ENSG00000086200	Q9UI26	Importin-11	gwas
INPP5E	HGNC:21474	ENSG00000148384	Q9NRR6	Phosphatidylinositol polyphosphate 5-phosphatase type IV	clinvar
DUSP23	HGNC:21480	ENSG00000158716	Q9BVJ7	Dual specificity protein phosphatase 23	gwas
STN1	HGNC:26200	ENSG00000107960	Q9H668	CST complex subunit STN1	gwas
LRRC34	HGNC:28408	ENSG00000171757	Q8IZ02	Leucine-rich repeat-containing protein 34	gwas
ACP6	HGNC:29609	ENSG00000162836	Q9NPH0	Lysophosphatidic acid phosphatase type 6	gwas
DSP	HGNC:3052	ENSG00000096696	P15924	Desmoplakin	gwas
ABCA3	HGNC:33	ENSG00000167972	Q99758	Phospholipid-transporting ATPase ABCA3	clinvar
GJA5	HGNC:4279	ENSG00000265107	P36382	Gap junction alpha-5 protein	gwas
FCF1P3	HGNC:44615	ENSG00000239997		FCF1 pseudogene 3	gwas
UMAD1	HGNC:48955	ENSG00000219545	C9J7I0	UBAP1-MVB12-associated (UMA)-domain containing protein 1	gwas
HTR1E	HGNC:5291	ENSG00000168830	P28566	5-hydroxytryptamine receptor 1E	gwas
MAPT	HGNC:6893	ENSG00000186868	P10636	Microtubule-associated protein tau	gwas
MUC2	HGNC:7512	ENSG00000198788	Q02817	Mucin-2	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TERT	Telomerase reverse transcriptase	Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes.
MUC5B	Mucin-5B	Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus.
LAMP3	Lysosome-associated membrane glycoprotein 3	Lysosomal membrane glycoprotein which plays a role in the unfolded protein response (UPR) that contributes to protein degradation and cell survival during proteasomal dysfunction.
ARHGAP42	Rho GTPase-activating protein 42	May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle.
RPA3	Replication protein A 14 kDa subunit	As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress.
ATP11A	Phospholipid-transporting ATPase IH	Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of t…
PADI2	Protein-arginine deiminase type-2	Catalyzes the deimination of arginine residues of proteins.
PADI4	Protein-arginine deiminase type-4	Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance.
DPP9	Dipeptidyl peptidase 9	Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2.
PMPCA	Mitochondrial-processing peptidase subunit alpha	Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
IPO11	Importin-11	Functions in nuclear protein import as nuclear transport receptor.
INPP5E	Phosphatidylinositol polyphosphate 5-phosphatase type IV	Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bispho…
DUSP23	Dual specificity protein phosphatase 23	Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues.
STN1	CST complex subunit STN1	Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex.
LRRC34	Leucine-rich repeat-containing protein 34	Highly expressed in stem cells where it may be involved in regulation of pluripotency.
ACP6	Lysophosphatidic acid phosphatase type 6	Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol.
DSP	Desmoplakin	A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.
ABCA3	Phospholipid-transporting ATPase ABCA3	Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pul…
GJA5	Gap junction alpha-5 protein	One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
HTR1E	5-hydroxytryptamine receptor 1E	G-protein coupled receptor for 5-hydroxytryptamine (serotonin).
MAPT	Microtubule-associated protein tau	Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity.
MUC2	Mucin-2	Coats the epithelia of the intestines and other mucus membrane-containing organs to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces.

Protein-family classification

Druggable: 9 · Difficult: 3 · Unknown: 13 · Druggable fraction: 0.36

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
Phosphatase	2	6.7×	0.284
Protease	2	2.9×	0.593
Transporter	1	3.1×	0.686
Enzyme (other)	3	1.4×	0.686
Scaffold/PPI	2	1.4×	0.686
GPCR	1	1.0×	0.826
Other/Unknown	13	0.9×	0.826
Transcription factor	1	0.3×	0.960

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TERT	Other/Unknown	no		RT_dom, Telomerase_RT, Telomerase_RBD
MUC5B	Other/Unknown	no		VWF_dom, VWF_type-D, TIL_dom
LAMP3	Other/Unknown	no		Lysosome-assoc_membr_glycop, Lamp2-like_luminal
ARHGAP42	Scaffold/PPI	no		RhoGAP_dom, SH3_domain, PH_domain
RPA3	Other/Unknown	no		NA-bd_OB-fold, Rfa2
ATP11A	Transcription factor	no	7.6.2.1	P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf
PADI2	Enzyme (other)	yes	3.5.3.15	PAD, Cupredoxin, PAD_C
PADI4	Enzyme (other)	yes	3.5.3.15	PAD, Cupredoxin, PAD_C
DPP9	Protease	yes	3.4.13.19	Peptidase_S9_cat, Peptidase_S9B_N, AB_hydrolase_fold
PMPCA	Protease	yes	3.4.24.64	Pept_M16_Zn_BS, Peptidase_M16_C, Metalloenz_LuxS/M16
FAM13A	Other/Unknown	no		RhoGAP_dom, Rho_GTPase_activation_prot, FAM13
IPO11	Other/Unknown	no		Importin-beta_N, ARM-like, ARM-type_fold
INPP5E	Enzyme (other)	yes	3.1.3.36	IPPc, Endo/exonu/phosph_ase_sf, INPP5E
DUSP23	Phosphatase	yes	3.1.3.48	Tyr_Pase_dom, Tyr_Pase_cat, Tyr_Pase_AS
STN1	Other/Unknown	no		NA-bd_OB_tRNA, NA-bd_OB-fold, Stn1
LRRC34	Other/Unknown	no		Leu-rich_rpt, LRR_dom_sf, LRR-containing_regulator
ACP6	Phosphatase	yes	3.1.3.106	His_Pase_clade-2, His_PPase_superfam, Acid_Pase_AS
DSP	Scaffold/PPI	no		Plectin_repeat, SH3_domain, Spectrin/alpha-actinin
ABCA3	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC2_TM
GJA5	Other/Unknown	no		Connexin, Connexin40, Connexin_N
FCF1P3	Other/Unknown	no
UMAD1	Other/Unknown	no		UMA, UMAD1
HTR1E	GPCR	yes		GPCR_Rhodpsn, 5HT_rcpt, GPCR_Rhodpsn_7TM
MAPT	Other/Unknown	no		MAP_tubulin-bd_rpt, Tau, MAP2/MAP4/Tau
MUC2	Other/Unknown	no		VWF_dom, VWF_type-D, TIL_dom

Expression context

Cohort genes with no expression data: 0.

21 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)	25
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	3
right uterine tube	3
mucosa of transverse colon	2
lower lobe of lung	2
sperm	2
visceral pleura	2
calcaneal tendon	2
jejunal mucosa	2
bronchial epithelial cell	2
bronchus	2
right lobe of liver	2
oocyte	2
secondary oocyte	2
primordial germ cell in gonad	2
prefrontal cortex	2
olfactory bulb	1
stromal cell of endometrium	1
type B pancreatic cell	1
gall bladder	1
trachea	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TERT	105	broad	yes	stromal cell of endometrium, type B pancreatic cell, olfactory bulb
MUC5B	171	tissue_specific	marker	trachea, gall bladder, mucosa of transverse colon
LAMP3	199	broad	marker	lower lobe of lung, sperm, visceral pleura
ARHGAP42	224	ubiquitous	marker	calcaneal tendon, jejunal mucosa, sural nerve
RPA3	287	ubiquitous	marker	bronchial epithelial cell, epithelium of bronchus, bronchus
ATP11A	268	ubiquitous	marker	germinal epithelium of ovary, visceral pleura, heart right ventricle
PADI2	251	broad	marker	medial globus pallidus, globus pallidus, C1 segment of cervical spinal cord
PADI4	123	tissue_specific	marker	blood, bone marrow, bone marrow cell
DPP9	236	ubiquitous	marker	gastrocnemius, hindlimb stylopod muscle, right lobe of liver
PMPCA	276	ubiquitous	marker	right lobe of liver, adrenal tissue, apex of heart
FAM13A	293	ubiquitous	marker	secondary oocyte, oocyte, jejunal mucosa
IPO11	241	ubiquitous	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, colonic epithelium
INPP5E	279	ubiquitous	yes	right uterine tube, secondary oocyte, oocyte
DUSP23	240	ubiquitous	marker	left adrenal gland cortex, left adrenal gland, olfactory segment of nasal mucosa
STN1	284	ubiquitous	marker	lower esophagus mucosa, oral cavity, esophagus mucosa
LRRC34	192	broad	marker	bronchial epithelial cell, bronchus, sperm
ACP6	257	ubiquitous	marker	right uterine tube, pancreatic ductal cell, mucosa of stomach
DSP	253	ubiquitous	marker	skin of hip, upper leg skin, hair follicle
ABCA3	222	ubiquitous	marker	lower lobe of lung, upper lobe of lung, upper lobe of left lung
GJA5	190	broad	marker	placenta, right coronary artery, left coronary artery
FCF1P3	44		yes	male germ line stem cell (sensu Vertebrata) in testis, corpus callosum, right uterine tube
UMAD1	249	ubiquitous	marker	body of pancreas, calcaneal tendon, pancreas
HTR1E	77	broad	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, prefrontal cortex
MAPT	141	broad	marker	cortical plate, superior frontal gyrus, prefrontal cortex
MUC2	96	tissue_specific	marker	mucosa of transverse colon, rectum, small intestine Peyer’s patch

Protein interactions among cohort

Intra-cohort edges: 12.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAPT	7,289
TERT	5,717
RPA3	5,390
PMPCA	3,679
DSP	2,897
MUC5B	2,659
MUC2	2,069
DPP9	1,878
STN1	1,863
LAMP3	1,527

Intra-cohort edges

A	B	Sources
ABCA3	LAMP3	intact
ACP6	GJA5	string_interaction
ACP6	PMPCA	biogrid_interaction
ATP11A	DPP9	string_interaction
ATP11A	FAM13A	string_interaction
ATP11A	MUC5B	string_interaction
ATP11A	STN1	string_interaction
DPP9	FAM13A	string_interaction
LRRC34	STN1	string_interaction
MUC2	MUC5B	string_interaction
RPA3	STN1	string_interaction
RPA3	UMAD1	string_interaction

Structural data

PDB: 17 · AlphaFold-only: 7 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAPT	P10636	293
PADI4	Q9UM07	28
PADI2	Q9Y2J8	24
TERT	O14746	23
DPP9	Q86TI2	14
MUC2	Q02817	12
RPA3	P35244	10
STN1	Q9H668	8
DSP	P15924	4
ACP6	Q9NPH0	3
HTR1E	P28566	3
MUC5B	Q9HC84	2
DUSP23	Q9BVJ7	2
ABCA3	Q99758	2
LAMP3	Q9UQV4	1
INPP5E	Q9NRR6	1
LRRC34	Q8IZ02	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
IPO11	Q9UI26	93.53
PMPCA	Q10713	88.46
ATP11A	P98196	83.48
ARHGAP42	A6NI28	75.04
GJA5	P36382	70.35
UMAD1	C9J7I0	61.63
FAM13A	O94988	61.00

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 114. Enrichment computed across 25 evidence-associated genes (17 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 17 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Extension of Telomeres	2	70.7×	0.040	TERT, STN1
Defective ABCA3 causes SMDP3	1	671.8×	0.042	ABCA3
Telomere Maintenance	2	43.3×	0.042	TERT, STN1
Chromosome Maintenance	2	24.9×	0.065	TERT, STN1
ARL13B-mediated ciliary trafficking of INPP5E	1	223.9×	0.085	INPP5E
Diseases associated with surfactant metabolism	1	167.9×	0.097	ABCA3
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	1	96.0×	0.103	TERT
Apoptotic cleavage of cell adhesion proteins	1	61.1×	0.103	DSP
Caspase-mediated cleavage of cytoskeletal proteins	1	56.0×	0.103	MAPT
Serotonin receptors	1	56.0×	0.103	HTR1E
Telomere C-strand synthesis initiation	1	48.0×	0.103	STN1
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	1	48.0×	0.103	RPA3
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	1	48.0×	0.103	RPA3
Removal of the Flap Intermediate	1	48.0×	0.103	RPA3
Telomere C-strand (Lagging Strand) Synthesis	1	44.8×	0.103	STN1
Translesion synthesis by REV1	1	42.0×	0.103	RPA3
Defective GALNT3 causes HFTC	1	42.0×	0.103	MUC5B
Defective GALNT12 causes CRCS1	1	42.0×	0.103	MUC5B
Defective C1GALT1C1 causes TNPS	1	39.5×	0.103	MUC5B
Translesion synthesis by POLI	1	39.5×	0.103	RPA3
Synthesis of PIPs at the Golgi membrane	1	37.3×	0.103	INPP5E
Removal of the Flap Intermediate from the C-strand	1	37.3×	0.103	RPA3
Translesion synthesis by POLK	1	37.3×	0.103	RPA3
Processing of SMDT1	1	37.3×	0.103	PMPCA
Translesion Synthesis by POLH	1	35.4×	0.103	RPA3
ABC transporters in lipid homeostasis	1	35.4×	0.103	ABCA3
Diseases of metabolism	2	9.5×	0.103	MUC5B, ABCA3
RHOA GTPase cycle	2	8.8×	0.103	FAM13A, ARHGAP42
Chromatin modifying enzymes	2	8.5×	0.103	PADI2, PADI4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 23 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
telomere maintenance	4	46.5×	3e-04	TERT, RPA3, STN1, LRRC34
RNA-templated transcription	1	732.7×	0.018	TERT
mitral valve development	1	732.7×	0.018	GJA5
septum primum development	1	732.7×	0.018	GJA5
atrial ventricular junction remodeling	1	732.7×	0.018	GJA5
positive regulation of cell communication by chemical coupling	1	732.7×	0.018	GJA5
DNA strand elongation	1	732.7×	0.018	TERT
positive regulation of protein homooligomerization	1	732.7×	0.018	ABCA3
plus-end-directed organelle transport along microtubule	1	732.7×	0.018	MAPT
atrial cardiac muscle cell to AV node cell communication by electrical coupling	1	732.7×	0.018	GJA5
Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling	1	732.7×	0.018	GJA5
regulation of Purkinje myocyte action potential	1	732.7×	0.018	GJA5
siRNA transcription	1	732.7×	0.018	TERT
regulation of renin secretion into blood stream	1	732.7×	0.018	GJA5
negative regulation of lymphocyte chemotaxis	1	732.7×	0.018	PADI2
positive regulation of transdifferentiation	1	732.7×	0.018	TERT
regulation of viral life cycle	1	732.7×	0.018	LAMP3
vasomotion	1	732.7×	0.018	GJA5
pulmonary valve formation	1	366.4×	0.020	GJA5
RNA-templated DNA biosynthetic process	1	366.4×	0.020	TERT
cell communication by chemical coupling	1	366.4×	0.020	GJA5
foramen ovale closure	1	366.4×	0.020	GJA5
positive regulation of hair cycle	1	366.4×	0.020	TERT
SA node cell to atrial cardiac muscle cell communication by electrical coupling	1	366.4×	0.020	GJA5
AV node cell to bundle of His cell communication by electrical coupling	1	366.4×	0.020	GJA5
bundle of His cell to Purkinje myocyte communication by electrical coupling	1	366.4×	0.020	GJA5
regulation of bundle of His cell action potential	1	366.4×	0.020	GJA5
regulation of phosphatidylcholine metabolic process	1	366.4×	0.020	ABCA3
neurofibrillary tangle assembly	1	366.4×	0.020	MAPT
negative regulation of protein localization to mitochondrion	1	366.4×	0.020	MAPT

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

13 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Mycophenolate Mofetil	Phase 3
Nintedanib	Phase 3
Rituximab	Phase 3
Tadalafil	Phase 3
Treprostinil	Phase 3
Amitriptyline	Phase 2
Azathioprine	Phase 2
Duloxetine	Phase 2
Gadoterate Meglumine	Phase 2
Pirfenidone	Phase 2
Pomalidomide	Phase 2
Sodium Chloride	Phase 2
Uridine Triphosphate	Phase 2

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 19

Druggability breadth: 11 of 25 evidence-associated genes (44%) 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
TERT	BERBERINE
PADI4	CHLORTETRACYCLINE
DPP9	SITAGLIPTIN
HTR1E	IMIPRAMINE
MAPT	BEPRIDIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAPT	449	4
HTR1E	14	4
TERT	10	4
DPP9	8	4
PADI4	3	4
PADI2	1	2
MUC5B	0	0
LAMP3	0	0
ARHGAP42	0	0
RPA3	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BERBERINE	4	MAPT, TERT
DOXORUBICIN	4	TERT
CHLORTETRACYCLINE	4	PADI4
SITAGLIPTIN	4	DPP9
VILDAGLIPTIN	4	DPP9
TENELIGLIPTIN	4	DPP9
LINAGLIPTIN	4	DPP9
SAXAGLIPTIN ANHYDROUS	4	DPP9
GOSOGLIPTIN	4	DPP9
IMIPRAMINE	4	HTR1E, MAPT
DIHYDROERGOTAMINE MESYLATE	4	HTR1E, MAPT
AZELASTINE HYDROCHLORIDE	4	HTR1E
SUMATRIPTAN	4	HTR1E
BREXPIPRAZOLE	4	HTR1E
FROVATRIPTAN SUCCINATE	4	HTR1E
LASMIDITAN	4	HTR1E
CLOZAPINE	4	HTR1E, MAPT
BEPRIDIL	4	MAPT
PHENYLBUTAZONE	4	MAPT
CEFOTAXIME SODIUM	4	MAPT
DIENESTROL	4	MAPT
PROGESTERONE	4	MAPT
CLOTRIMAZOLE	4	MAPT
CHOLECALCIFEROL	4	MAPT
LATANOPROST	4	MAPT
CHLORTHALIDONE	4	MAPT
FLUORESCEIN	4	MAPT
OXCARBAZEPINE	4	MAPT
NABUMETONE	4	MAPT
GLIPIZIDE	4	MAPT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 8.

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

Symbol	Assays	Type breakdown
TERT	391	Binding:389, Functional:2
HTR1E	184	Binding:161, Functional:20, ADMET:3
MAPT	184	Binding:180, Functional:4
DPP9	160	Binding:154, ADMET:6
PADI4	86	Binding:84, Functional:2
PADI2	30	Binding:30
DUSP23	6	Binding:6
DSP	2	Binding:2
RPA3	1	Binding:1
PMPCA	1	Binding:1
IPO11	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ATP11A	7.6.2.1	P-type phospholipid transporter
PADI2	3.5.3.15, 3.5.3.6	protein-arginine deiminase, arginine deiminase
PADI4	3.5.3.15	protein-arginine deiminase
DPP9	3.4.13.19	membrane dipeptidase
PMPCA	3.4.24.64	mitochondrial processing peptidase
INPP5E	3.1.3.36	phosphoinositide 5-phosphatase
DUSP23	3.1.3.48	protein-tyrosine-phosphatase
ACP6	3.1.3.106	2-lysophosphatidate phosphatase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
TERT	391
DPP9	160
HTR1E	184
MAPT	184

Pharmacogenomics

Cohort genes with a PharmGKB record: 24; 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)
BERBERINE	4	MAPT, TERT
DOXORUBICIN	4	TERT
CHLORTETRACYCLINE	4	PADI4
SITAGLIPTIN	4	DPP9
VILDAGLIPTIN	4	DPP9
TENELIGLIPTIN	4	DPP9
LINAGLIPTIN	4	DPP9
SAXAGLIPTIN ANHYDROUS	4	DPP9
GOSOGLIPTIN	4	DPP9
IMIPRAMINE	4	HTR1E, MAPT
DIHYDROERGOTAMINE MESYLATE	4	HTR1E, MAPT
AZELASTINE HYDROCHLORIDE	4	HTR1E
SUMATRIPTAN	4	HTR1E
BREXPIPRAZOLE	4	HTR1E
FROVATRIPTAN SUCCINATE	4	HTR1E
LASMIDITAN	4	HTR1E
CLOZAPINE	4	HTR1E, MAPT
BEPRIDIL	4	MAPT
PHENYLBUTAZONE	4	MAPT
CEFOTAXIME SODIUM	4	MAPT
DIENESTROL	4	MAPT
PROGESTERONE	4	MAPT
CLOTRIMAZOLE	4	MAPT
CHOLECALCIFEROL	4	MAPT
LATANOPROST	4	MAPT
CHLORTHALIDONE	4	MAPT
FLUORESCEIN	4	MAPT
OXCARBAZEPINE	4	MAPT
NABUMETONE	4	MAPT
GLIPIZIDE	4	MAPT

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	TERT, PADI4, DPP9, HTR1E, MAPT
B	Phased (≥1) drug, not yet approved	1	PADI2
C	Druggable family + PDB, no drug	4	INPP5E, DUSP23, ACP6, ABCA3
D	Druggable family + AlphaFold only, no drug	1	PMPCA
E	Difficult family or no structure, no drug	14	MUC5B, LAMP3, ARHGAP42, RPA3, ATP11A, FAM13A, IPO11, STN1, LRRC34, DSP (+4 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ATP11A	0	DPP9
MUC5B	0	—
LAMP3	0	—
ARHGAP42	0	—
RPA3	1	—
PMPCA	1	—
FAM13A	0	—
IPO11	1	—
INPP5E	0	—
DUSP23	6	—
STN1	0	—
LRRC34	0	—
ACP6	0	—
DSP	2	—
ABCA3	0	—
GJA5	0	—
FCF1P3	0	—
UMAD1	0	—
MUC2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 392.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	284
PHASE2	43
PHASE4	18
PHASE3	15
PHASE2/PHASE3	11
PHASE1	10
PHASE1/PHASE2	7
EARLY_PHASE1	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07077486	PHASE4	RECRUITING	Effects of Telitacicept vs Cyclophosphamide on Lupus Related Interstitial Lung Disease
NCT07319598	PHASE4	RECRUITING	A Study to Test Tetrandrine Tablets for Connective Tissue Disease-Related Lung Disease
NCT07570888	PHASE4	NOT_YET_RECRUITING	This is a Trial Designed to Evaluate the Combination of Nerandomilast With Mycophenolate Across a Wide Variety of Pulmonary Fibrosis Subtypes, With the Aim of Providing Clinicians With Assurance That This is an Appropriate Therapeutic Combination.
NCT00625079	PHASE4	WITHDRAWN	Pulmonary Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil
NCT00637065	PHASE4	UNKNOWN	Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study
NCT00882817	PHASE4	COMPLETED	Pulmonary Rehabilitation in Interstitial Lung Diseases
NCT02143687	PHASE4	COMPLETED	Patients With Pulmonary Hypertension or Interstitial Lung Disease at Altitude - Effect of Oxygen on Exercise Performance
NCT02150616	PHASE4	UNKNOWN	Patients With Pulmonary Hypertension or Interstitial Lung Disease at Altitude - Effect of Oxygen on Breathing and Sleep
NCT02622022	PHASE4	COMPLETED	Palliation of Dyspnea With Morphine in Patients With Interstitial Lung Disease
NCT02821689	PHASE4	UNKNOWN	Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis
NCT04036721	PHASE4	SUSPENDED	Coorticosteroid Regimen in Patients With Anti-PD-1/PD-L1 Induced Pneumonitis
NCT04311567	PHASE4	TERMINATED	Effects of Tofacitinib vs Methotrexate on Rheumatoid Arthritis Interstitial Lung Disease
NCT04619680	PHASE4	COMPLETED	The Study of the Use of Nintedanib in Slowing Lung Disease in Patients With Fibrotic or Non-Fibrotic Interstitial Lung Disease Related to COVID-19
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT04988282	PHASE4	COMPLETED	Systemic Corticosteroids in Treatment of Post-COVID-19 Interstitial Lung Disease
NCT05129410	PHASE4	UNKNOWN	Clinical Study of MMF in Treatment of IIM-ILD and Its Effect on Peripheral Blood Treg Cells
NCT05375435	PHASE4	UNKNOWN	Efficacy and Safety of Triple Therapy in Patients With Anti-MDA5 Antibody-positive Dermatomyositis
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT04905693	PHASE3	ENROLLING_BY_INVITATION	Extension Study of Inhaled Treprostinil in Subjects With Fibrotic Lung Disease
NCT05828953	PHASE2/PHASE3	RECRUITING	Anlotinib Capsules in the Treatment for IPF/PF-ILDs
NCT05943535	PHASE3	RECRUITING	Study of the Efficacy and Safety of Inhaled Treprostinil in Subjects With Progressive Pulmonary Fibrosis (TETON-PPF)
NCT06297096	PHASE3	RECRUITING	Study of the Efficacy of Nintedanib+Tocilizumab in Patients With Systemic Sclerosis and Interstitial Lung Disease
NCT06674148	PHASE2/PHASE3	RECRUITING	A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of the Efficacy and Safety of Qifangfeixian Granules in the Treatment of Connective Tissue Disease-Associated Interstitial Lung Disease (CTD-ILD)
NCT06806592	PHASE3	RECRUITING	A Study to Test Whether Nerandomilast Helps People With Lungfibrosis Related to Rheumatic Diseases
NCT07179380	PHASE3	RECRUITING	Efficacy and Safety Study of Treprostinil Palmitil Inhalation Powder (TPIP) in Participants With Pulmonary Hypertension Associated With Interstitial Lung Disease (PH-ILD)
NCT07201922	PHASE3	RECRUITING	A Study to Test Whether Nerandomilast Can Help Slow Down Changes in the Lung in People With a Family History of Pulmonary Fibrosis
NCT07234032	PHASE3	NOT_YET_RECRUITING	An Open-Label Extension Study of Treprostinil Palmitil Inhalation Powder (TPIP) in Participants With Pulmonary Hypertension Associated With Interstitial Lung Disease (PH-ILD)
NCT07540988	PHASE3	NOT_YET_RECRUITING	FIBRONEER-ACT: A Study to Test Whether Nerandomilast Helps People With Fibrosing Interstitial Lung Disease at Risk for Disease Progression
NCT07613099	PHASE3	NOT_YET_RECRUITING	Evaluation of Fibrotic Disease Activity in Cardiopulmonary Disorders Using 18F-Fibroblast Activation Protein Inhibitor (18F-FAPI-74 PET/CT Imaging)
NCT00319033	PHASE2/PHASE3	COMPLETED	Open-label Study With Bosentan in Interstitial Lung Disease
NCT01424033	PHASE2/PHASE3	TERMINATED	A Clinical Trial for CTD-ILD Treatment
NCT01570764	PHASE3	COMPLETED	Cyclophosphamide Systemic Sclerosis Associated Interstitial Lung Disease
NCT01862926	PHASE2/PHASE3	COMPLETED	Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD
NCT01955824	PHASE2/PHASE3	COMPLETED	A Trial on Clinical Efficacy of 1% Versus 2% Lignocaine in Cough Suppression and Pain Relief in Patients Undergoing Flexible Bronchoscopy
NCT02630316	PHASE2/PHASE3	COMPLETED	Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE
NCT02633293	PHASE2/PHASE3	TERMINATED	An Open Label Extension Study to Evaluate Inhaled Treprostinil in Adult PH With ILD Including CPFE
NCT02896205	PHASE3	COMPLETED	Study to Compare the Efficacy of Mycophenolate Mofetil in Systemic Sclerosis Related Early Interstitial Lung Disease
NCT03018756	PHASE3	COMPLETED	Nebulized Fentanyl in Patients With Mild to Moderate Interstitial Lung Disease and Chronic Dyspnea
NCT03726398	PHASE2/PHASE3	WITHDRAWN	CompRehensive Phenotypic Characterization of Patients With Scleroderma-Associated ILD and PH
NCT03770663	PHASE3	UNKNOWN	Cyclophosphamide and Azathioprine vs Tacrolimus in Antisynthetase Syndrome-related Interstitial Lung Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TREPROSTINIL	4	10
PIRFENIDONE	4	6
TOFACITINIB	4	4
AMITRIPTYLINE	4	3
CYCLOPHOSPHAMIDE ANHYDROUS	4	3
SILDENAFIL	4	3
BOSENTAN	4	2
DIMERCAPROL	4	2
GADOTERATE MEGLUMINE	4	2
NINTEDANIB	4	2
OXYGEN	4	2
ACETYLCYSTEINE	4	1
AZATHIOPRINE	4	1
DABIGATRAN ETEXILATE MESYLATE	4	1
DEXAMETHASONE	4	1
EMAPALUMAB	4	1
FENTANYL CITRATE	4	1
HYDROXYCHLOROQUINE	4	1
METHYLPREDNISOLONE	4	1
MYCOPHENOLATE MOFETIL	4	1
POMALIDOMIDE	4	1
XENON XE-129, HYPERPOLARIZED	4	1
BARDOXOLONE METHYL	3	1
CATEQUENTINIB	3	1
DABIGATRAN	3	1
IXAZOMIB	3	1
LEVOMENTHOL	3	1
MORPHINE HYDROCHLORIDE	3	1
REGRAMOSTIM	3	1
TRANSCROCETINATE SODIUM	3	1