NTM

Summary

NTM (neurotrimin, HGNC:17941) is a protein-coding gene on chromosome 11q25, encoding Neurotrimin (Q9P121). Neural cell adhesion molecule.

This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 50863 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_001352005

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17941
Approved symbol	NTM
Name	neurotrimin
Location	11q25
Locus type	gene with protein product
Status	Approved
Aliases	HNT, NTRI, IGLON2, CEPU-1
Ensembl gene	ENSG00000182667
Ensembl biotype	protein_coding
OMIM	607938
Entrez	50863

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 11 protein_coding, 11 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000374784, ENST00000374786, ENST00000374791, ENST00000416661, ENST00000425719, ENST00000427481, ENST00000436745, ENST00000457381, ENST00000463395, ENST00000467255, ENST00000470371, ENST00000474900, ENST00000477098, ENST00000479431, ENST00000482316, ENST00000483174, ENST00000490356, ENST00000496094, ENST00000496198, ENST00000498764, ENST00000539799, ENST00000550167, ENST00000683400

RefSeq mRNA: 19 — MANE Select: NM_001352005 NM_001048209, NM_001144058, NM_001144059, NM_001352001, NM_001352002, NM_001352003, NM_001352004, NM_001352005, NM_001352006, NM_001352007, NM_001352008, NM_001352009, NM_001386964, NM_001386965, NM_001386966, NM_001386967, NM_001386968, NM_001386969, NM_016522

CCDS: CCDS41733, CCDS44777, CCDS44778, CCDS8491, CCDS91626

Canonical transcript exons

ENST00000683400 — 9 exons

Exon	Start	End
ENSE00001464656	132335046	132336822
ENSE00001797272	132330153	132330185
ENSE00003608747	132212022	132212147
ENSE00003611863	132310112	132310232
ENSE00003624688	131911564	131911648
ENSE00003644933	132146282	132146514
ENSE00003654495	132314552	132314703
ENSE00003749057	132307689	132307823
ENSE00003919139	131370615	131370888

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6419 / max 3310.7233, expressed in 1025 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117647	16.3947	427
117666	2.1510	577
117648	1.5987	205
117664	0.9032	413
117662	0.9028	421
117661	0.7170	388
117660	0.6295	376
117649	0.5597	163
117665	0.4681	300
117659	0.4661	218

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.44	gold quality
cerebellar cortex	UBERON:0002129	98.39	gold quality
cerebellar hemisphere	UBERON:0002245	98.39	gold quality
cerebellar vermis	UBERON:0004720	98.34	gold quality
cerebellum	UBERON:0002037	98.29	gold quality
primary visual cortex	UBERON:0002436	98.16	gold quality
middle temporal gyrus	UBERON:0002771	97.65	gold quality
postcentral gyrus	UBERON:0002581	97.59	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.54	gold quality
occipital lobe	UBERON:0002021	97.51	gold quality
parietal lobe	UBERON:0001872	97.40	gold quality
corpus callosum	UBERON:0002336	97.25	gold quality
superior frontal gyrus	UBERON:0002661	97.25	gold quality
right frontal lobe	UBERON:0002810	97.03	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.85	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.77	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.77	gold quality
cortical plate	UBERON:0005343	96.71	gold quality
frontal cortex	UBERON:0001870	96.62	gold quality
entorhinal cortex	UBERON:0002728	96.46	gold quality
temporal lobe	UBERON:0001871	96.35	gold quality
neocortex	UBERON:0001950	96.35	gold quality
prefrontal cortex	UBERON:0000451	96.34	gold quality
anterior cingulate cortex	UBERON:0009835	96.16	gold quality
amygdala	UBERON:0001876	96.15	gold quality
cingulate cortex	UBERON:0003027	96.12	gold quality
medial globus pallidus	UBERON:0002477	96.09	gold quality
cerebral cortex	UBERON:0000956	96.03	gold quality
caudate nucleus	UBERON:0001873	95.95	gold quality
telencephalon	UBERON:0001893	95.93	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	90.89
E-GEOD-109979	yes	66.63
E-HCAD-11	yes	28.46
E-GEOD-137537	yes	17.35
E-HCAD-25	yes	16.43
E-GEOD-84465	yes	11.09
E-ANND-3	yes	9.38
E-GEOD-130148	yes	8.65
E-ENAD-17	no	341.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF6, TXK

miRNA regulators (miRDB)

87 targeting NTM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311

Literature-anchored findings (GeneRIF, showing 10)

• NTM shows close linkage to OPCML on chromosome 11q25. (PMID:12819783)
• Human neurotrimin is expressed on the surface of CHO cells and could strengthen their aggregation. (PMID:15379248)
• The finding of this study provided evidence that NTM at 11q25 chromosome regions affecting IQ. (PMID:21036197)
• A quantitative analysis of central corneal thickness and a subsequent analysis of primary open-angle glaucoma (POAG), SNPs in two cell adhesion molecules, NTM and CNTNAP4, were identified and may increase POAG susceptibility in a subset of cases. (PMID:22661486)
• A translocation breaks intron 1 of a splicing isoform of Neurotrimin at 11q25 in a family with intracranial and thoracic aortic aneurysm. (PMID:23054244)
• The generation and cardiac phenotype of single and double heterozygous gene-targeted OPCML and Neurotrimin knockout mice. (PMID:24616287)
• Both the AFF3 and NTM triglyceride associations were replicated among Multi-ethnic Study of Atherosclerosis study participants (P = 1.00 x 10(-7) and 8.00 x 10(-5), respectively). (PMID:25819087)
• NTM is not a susceptibility gene for autism spectrum disorders. (PMID:26334118)
• Neurotrimin, a neural cell adhesion molecule, is increased in leiomyoma compared to myometrium in patient tissue after estrogen and progesterone treatment. (PMID:32033718)
• Highly Conserved Molecular Features in IgLONs Contrast Their Distinct Structural and Biological Outcomes. (PMID:32710982)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	opcml	ENSDARG00000013005
mus_musculus	Ntm	ENSMUSG00000059974
rattus_norvegicus	Ntm	ENSRNOG00000066437
drosophila_melanogaster	Ama	FBGN0000071
drosophila_melanogaster	Lac	FBGN0010238
drosophila_melanogaster	klg	FBGN0017590
drosophila_melanogaster	fipi	FBGN0031627
drosophila_melanogaster	DIP-eta	FBGN0031725
drosophila_melanogaster	DIP-iota	FBGN0031837
drosophila_melanogaster	CG13506	FBGN0034723
drosophila_melanogaster	DIP-zeta	FBGN0051708
drosophila_melanogaster	DIP-kappa	FBGN0051814
drosophila_melanogaster	CG33543	FBGN0053543
drosophila_melanogaster	DIP-beta	FBGN0259245
drosophila_melanogaster	DIP-epsilon	FBGN0259714
caenorhabditis_elegans	rig-5	WBGENE00004372

Paralogs (5): IGLON5 (ENSG00000142549), NEGR1 (ENSG00000172260), IGSF5 (ENSG00000183067), OPCML (ENSG00000183715), LSAMP (ENSG00000185565)

Protein

Protein identifiers

Neurotrimin — Q9P121 (reviewed: Q9P121)

Alternative names: IgLON family member 2

All UniProt accessions (8): Q9P121, B7Z1Z5, C9J0V2, C9JK95, F6WFR7, F8VTR5, F8W8Y1, H7BZ62

UniProt curated annotations — full annotation on UniProt →

Function. Neural cell adhesion molecule.

Subcellular location. Cell membrane.

Similarity. Belongs to the immunoglobulin superfamily. IgLON family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P121-1	1	yes
Q9P121-2	2
Q9P121-3	3
Q9P121-4	4

RefSeq proteins (19): NP_001041674, NP_001137530, NP_001137531, NP_001338930, NP_001338931, NP_001338932, NP_001338933, NP_001338934, NP_001338935, NP_001338936, NP_001338937, NP_001338938, NP_001373893, NP_001373894, NP_001373895, NP_001373896, NP_001373897, NP_001373898, NP_057606 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013151	Immunoglobulin_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050876	IgLON_domain	Family

Pfam: PF00047, PF07679, PF13927

UniProt features (45 total): strand 22, glycosylation site 7, splice variant 4, disulfide bond 3, domain 3, helix 2, signal peptide 1, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6U7N	X-RAY DIFFRACTION	3.32
6DLF	X-RAY DIFFRACTION	3.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P121-F1	82.62	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 321

Disulfide bonds (3): 57–115, 157–201, 243–295

Glycosylation sites (7): 284, 292, 305, 321, 44, 70, 152

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins

MSigDB gene sets: 128 (showing top): GOBP_NEURON_RECOGNITION, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_SYNAPSE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_CELL_JUNCTION_ASSEMBLY, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP, CHANDRAN_METASTASIS_UP, chr11q25, LEE_TARGETS_OF_PTCH1_AND_SUFU_DN

GO Biological Process (2): cell adhesion (GO:0007155), neuron recognition (GO:0008038)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
membrane	2
cellular process	1
cell recognition	1
neuron development	1
binding	1
cell periphery	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

1686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NTM	HSF4	Q9ULV5	866
NTM	PRNP	P04156	701
NTM	PID1	Q7Z2X4	688
NTM	MFGE8	Q08431	651
NTM	MSMB	P08118	494
NTM	CNTN2	P78432	480
NTM	FGF9	P31371	440
NTM	TMEM272	A0A1B0GTI8	440
NTM	CXCR5	P32302	436
NTM	NTMT2	Q5VVY1	430
NTM	LTBR	P36941	428
NTM	NPTN	Q9Y639	427
NTM	RNF181	Q9P0P0	426
NTM	CEACAM5	P06731	403
NTM	CPNE5	Q9HCH3	398

IntAct

41 interactions, top by confidence:

A	B	Type	Score
NTM	KRTAP3-2	psi-mi:“MI:0915”(physical association)	0.670
KRTAP3-2	NTM	psi-mi:“MI:0915”(physical association)	0.670
NTM	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.560
NTM	CCKBR	psi-mi:“MI:0915”(physical association)	0.560
C19orf47	NTM	psi-mi:“MI:0915”(physical association)	0.560
NTM	C19orf47	psi-mi:“MI:0915”(physical association)	0.560
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
NTM	DDX27	psi-mi:“MI:0915”(physical association)	0.400
LSAMP	NTM	psi-mi:“MI:0915”(physical association)	0.400
NEGR1	NTM	psi-mi:“MI:0915”(physical association)	0.400
NTM	NTM	psi-mi:“MI:0915”(physical association)	0.400
NTM	LSAMP	psi-mi:“MI:0915”(physical association)	0.400
NTM	NEGR1	psi-mi:“MI:0915”(physical association)	0.400
TBCC	NTM	psi-mi:“MI:0915”(physical association)	0.400
TRPV2	NTM	psi-mi:“MI:0915”(physical association)	0.370
ECE1	NTM	psi-mi:“MI:0915”(physical association)	0.370
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): NTM (Two-hybrid), NTM (Two-hybrid), KRTAP3-2 (Two-hybrid), C19orf47 (Two-hybrid), NTM (Affinity Capture-MS), NTM (Affinity Capture-MS), NTM (Affinity Capture-MS), OPCML (Affinity Capture-MS), CALR (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), OPCML (Affinity Capture-MS), NTM (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), NTM (Affinity Capture-MS)

ESM2 similar proteins: A4IFA6, A6NGN9, B1AUH1, B3N666, B4Q599, O09127, O73791, P00545, P07333, P11834, P13369, P29322, P32736, P35590, P35916, P35917, Q06805, Q06806, Q13308, Q13449, Q14982, Q2EY13, Q2EY14, Q2EY15, Q2VWP9, Q58DA5, Q5IS61, Q5JZY3, Q5R412, Q62718, Q62813, Q6GU68, Q7Z3B1, Q80Z24, Q8BKG3, Q8BLK3, Q8BYG9, Q8HW98, Q8TDY8, Q90773

Diamond homologs: A2A8L5, A4IFW2, A6NGN9, A7MBJ4, B3N666, B4GBH0, B4GKZ8, B4HY03, B4KPU0, B4NZY8, B4Q599, P10586, P11834, P32736, Q03696, Q0E9H9, Q13449, Q14982, Q24372, Q26474, Q290N5, Q29JX6, Q58DA5, Q5IS61, Q5R412, Q62718, Q62813, Q64604, Q696W0, Q7Z3B1, Q80Z24, Q8BLK3, Q8HW98, Q90773, Q98892, Q98919, Q99PJ0, Q9P121, Q9VM64, Q9W6V2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2315 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:132212128:G:C	W169C	1.000
11:132212128:G:T	W169C	1.000
11:132310213:T:A	W255R	1.000
11:132310213:T:C	W255R	1.000
11:132310215:G:C	W255C	1.000
11:132310215:G:T	W255C	1.000
11:132146318:G:C	W68C	0.999
11:132146318:G:T	W68C	0.999
11:132146503:T:C	L130P	0.999
11:132212085:T:C	L155P	0.999
11:132212126:T:A	W169R	0.999
11:132212126:T:C	W169R	0.999
11:132212127:G:C	W169S	0.999
11:132307757:T:G	Y199D	0.999
11:132307763:T:A	C201S	0.999
11:132307763:T:C	C201R	0.999
11:132307764:G:C	C201S	0.999
11:132307777:T:A	N205K	0.999
11:132307777:T:G	N205K	0.999
11:132310172:T:C	L241P	0.999
11:132310177:T:A	C243S	0.999
11:132310177:T:C	C243R	0.999
11:132310178:G:C	C243S	0.999
11:132310214:G:C	W255S	0.999
11:132314608:T:C	L280P	0.999
11:132314652:T:A	C295S	0.999
11:132314652:T:C	C295R	0.999
11:132314653:G:C	C295S	0.999
11:132314666:C:A	N299K	0.999
11:132314666:C:G	N299K	0.999

dbSNP variants (sampled 300 via entrez): RS1000000568 (11:131492760 G>A), RS1000003942 (11:131632741 C>A), RS1000005052 (11:131723858 C>A,G), RS1000008342 (11:132046809 T>C), RS1000012034 (11:131452438 C>T), RS1000014396 (11:131869815 C>T), RS1000017184 (11:131560168 G>GCAAC), RS1000019131 (11:131760368 G>C), RS1000023657 (11:132022943 T>A,C), RS1000026434 (11:132332038 A>G,T), RS1000027347 (11:132161280 A>G), RS1000030018 (11:131389998 G>T), RS1000031243 (11:132299429 C>A), RS1000033440 (11:131851440 A>C), RS1000040572 (11:132312898 C>A)

Disease associations

OMIM: gene MIM:607938 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): connective tissue disorder (MONDO:0003900)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST000904_3	Asperger disorder	2.000000e-06
GCST001540_1	Male fertility	3.000000e-06
GCST001737_20	Chronic obstructive pulmonary disease-related biomarkers	8.000000e-06
GCST001762_190	Obesity-related traits	2.000000e-06
GCST001933_1	Sunburns	6.000000e-06
GCST003081_1	Glucocorticoid-induced osteonecrosis (age 10 years and older)	5.000000e-07
GCST003083_2	Glucocorticoid-induced osteonecrosis (time dependent analysis)	1.000000e-06
GCST003473_19	Aggressiveness in attention deficit hyperactivity disorder	1.000000e-06
GCST003489_11	Food addiction	5.000000e-06
GCST003489_6	Food addiction	1.000000e-07
GCST003854_38	Gut microbiota (functional units)	3.000000e-08
GCST003997_42	Myopia	1.000000e-15
GCST004862_140	Itch intensity from mosquito bite adjusted by bite size	5.000000e-06
GCST004865_3	Itch intensity from mosquito bite adjusted by bite size	2.000000e-06
GCST006087_16	Familial lung adenocarcinoma	2.000000e-06
GCST006291_46	Spherical equivalent or myopia (age of diagnosis)	7.000000e-12
GCST006585_2010	Blood protein levels	2.000000e-58
GCST006585_2811	Blood protein levels	6.000000e-32
GCST006950_26	Feeling worry	3.000000e-08
GCST008369_21	Plasma anti-thyroglobulin levels	4.000000e-06
GCST008550_27	Mental health study participation (completed survey)	2.000000e-11
GCST008550_28	Mental health study participation (completed survey)	5.000000e-08
GCST008595_111	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	1.000000e-08
GCST008758_16	Pre-treatment viral load in HIV-1 infection	1.000000e-16
GCST008759_13	Intake of total sugars	6.000000e-06
GCST010002_203	Refractive error	7.000000e-29
GCST010313_9	Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome	9.000000e-06
GCST010988_433	Adult body size	4.000000e-12
GCST010989_33	Body size at age 10	1.000000e-08
GCST011737_2	Severe exacerbations in childhood asthma	9.000000e-07

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004803	male fertility
EFO:0004804	birth rate
EFO:0004730	hormone measurement
EFO:0007829	eating behaviour
EFO:0007830	food addiction measurement
EFO:0007874	gut microbiome measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0006953	family history of lung cancer
EFO:0004847	age at onset
EFO:0009589	worry measurement
EFO:0010130	health study participation
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0010125	viral load
EFO:0010158	sugar consumption measurement
EFO:0008343	sex interaction measurement
EFO:0010733	polyunsaturated fatty acid measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007614	asthma exacerbation measurement
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003240	Connective Tissue Diseases	C17.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	7
trichostatin A	affects cotreatment, increases expression, decreases expression	3
(+)-JQ1 compound	affects cotreatment, decreases expression	2
Arsenic	decreases expression, increases methylation, increases abundance, increases expression	2
Cadmium	decreases expression, increases abundance, increases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	affects methylation, affects cotreatment, decreases methylation	1
sodium arsenate	increases abundance, increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
mirdametinib	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cytarabine	decreases expression	1
Dexamethasone	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	decreases expression	1
Methylnitrosourea	decreases expression	1

Clinical trials (associated diseases)

83 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
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
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
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
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
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
NCT04084678	PHASE3	TERMINATED	A Study of Ralinepag to Evaluate Effects on Exercise Capacity by CPET in Subjects With WHO Group 1 PH
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
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
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
NCT05516758	PHASE2	TERMINATED	A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis
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)
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)
NCT01424033	PHASE2/PHASE3	TERMINATED	A Clinical Trial for CTD-ILD Treatment
NCT04915482	PHASE2/PHASE3	UNKNOWN	TPO-RAs Combined With Anti-CD20 Antibody in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
NCT06574581	PHASE1/PHASE2	RECRUITING	ADSCs Therapy in Patients With CTD-ILD
NCT00001330	Not specified	COMPLETED	Study of Silicone-Associated Connective Tissue Diseases
NCT00001641	Not specified	COMPLETED	Study of Heritable Connective Tissue Disorders
NCT00001978	Not specified	TERMINATED	Determination of Kidney Function
NCT00076830	Not specified	COMPLETED	Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00341679	Not specified	COMPLETED	Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
NCT00470327	Not specified	RECRUITING	A Study of the Natural Progression of Interstitial Lung Disease (ILD)
NCT00491309	Not specified	UNKNOWN	Exercise and Respiratory Therapy in Patients With Rheumatoid Arthritis / Collagenosis and Pulmonary Hypertension