TXNDC15

Summary

TXNDC15 (thioredoxin domain containing 15, HGNC:20652) is a protein-coding gene on chromosome 5q31.1, encoding Thioredoxin domain-containing protein 15 (Q96J42). Acts as a positive regulator of ciliary hedgehog signaling.

This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization.

Source: NCBI Gene 79770 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Strong, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 88 total — 7 pathogenic
• Phenotypes (HPO): 72
• MANE Select transcript: NM_024715

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20652
Approved symbol	TXNDC15
Name	thioredoxin domain containing 15
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	TMX5, FLJ22625, 2310047H23Rik
Ensembl gene	ENSG00000113621
Ensembl biotype	protein_coding
OMIM	617778
Entrez	79770

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000358387, ENST00000502625, ENST00000505174, ENST00000506350, ENST00000506916, ENST00000507024, ENST00000508779, ENST00000508810, ENST00000509954, ENST00000511070, ENST00000856994, ENST00000926577, ENST00000926578, ENST00000957250

RefSeq mRNA: 2 — MANE Select: NM_024715 NM_001350735, NM_024715

CCDS: CCDS4180

Canonical transcript exons

ENST00000358387 — 5 exons

Exon	Start	End
ENSE00001886365	134899489	134901635
ENSE00003488865	134896294	134896424
ENSE00003559553	134893492	134893655
ENSE00003658355	134887695	134888182
ENSE00003900666	134874371	134874530

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.1710 / max 373.7383, expressed in 1817 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58619	62.0803	1817
58618	0.0908	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.05	gold quality
stromal cell of endometrium	CL:0002255	97.16	gold quality
colonic epithelium	UBERON:0000397	96.78	gold quality
tibia	UBERON:0000979	96.50	gold quality
adenohypophysis	UBERON:0002196	96.31	gold quality
adrenal tissue	UBERON:0018303	96.19	gold quality
pituitary gland	UBERON:0000007	95.97	gold quality
descending thoracic aorta	UBERON:0002345	95.86	gold quality
cortical plate	UBERON:0005343	95.82	gold quality
decidua	UBERON:0002450	95.80	gold quality
thoracic aorta	UBERON:0001515	95.69	gold quality
ascending aorta	UBERON:0001496	95.67	gold quality
thyroid gland	UBERON:0002046	95.31	gold quality
trachea	UBERON:0003126	95.23	gold quality
left coronary artery	UBERON:0001626	95.22	gold quality
left lobe of thyroid gland	UBERON:0001120	95.19	gold quality
right lobe of thyroid gland	UBERON:0001119	95.18	gold quality
pericardium	UBERON:0002407	95.11	gold quality
skin of hip	UBERON:0001554	95.07	gold quality
right coronary artery	UBERON:0001625	95.07	gold quality
tendon	UBERON:0000043	95.03	gold quality
aorta	UBERON:0000947	95.02	gold quality
parotid gland	UBERON:0001831	94.95	gold quality
body of pancreas	UBERON:0001150	94.88	gold quality
coronary artery	UBERON:0001621	94.88	gold quality
islet of Langerhans	UBERON:0000006	94.69	gold quality
pancreas	UBERON:0001264	94.69	gold quality
adrenal gland	UBERON:0002369	94.59	gold quality
popliteal artery	UBERON:0002250	94.55	gold quality
tibial artery	UBERON:0007610	94.55	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	103.09
E-MTAB-9467	yes	48.53
E-CURD-122	yes	41.23
E-HCAD-4	yes	39.09
E-MTAB-8410	yes	35.92
E-CURD-46	yes	35.20
E-HCAD-1	yes	33.00
E-ANND-3	yes	26.51
E-HCAD-11	yes	16.50
E-MTAB-10553	yes	9.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

58 targeting TXNDC15, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4312	99.34	67.30	511
HSA-MIR-1912-3P	99.32	67.40	936

Literature-anchored findings (GeneRIF, showing 2)

• Increased surface thiol isomerase activity on platelets, compared with cells of the vascular wall, may explain the platelet-selective actions of S-nitrosoglutathione and help define its antithrombotic potential (PMID:21642008)
• TXNDC15 was identified as a novel causative gene of prenatally diagnosed Meckel-Gruber syndrome. (PMID:30851085)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	txndc15	ENSDARG00000110357
mus_musculus	Txndc15	ENSMUSG00000021497
rattus_norvegicus	Txndc15	ENSRNOG00000000133
drosophila_melanogaster	bug	FBGN0034050
caenorhabditis_elegans		WBGENE00008281

Protein

Protein identifiers

Thioredoxin domain-containing protein 15 — Q96J42 (reviewed: Q96J42)

All UniProt accessions (7): Q96J42, D6R962, D6RAV9, D6RB48, D6RBD9, H0Y928, H0Y997

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a positive regulator of ciliary hedgehog signaling. Involved in ciliogenesis.

Subcellular location. Cell projection. Cilium membrane.

Disease relevance. Meckel syndrome 14 (MKS14) [MIM:619879] A form of Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Death occurs in the prenatal or perinatal period. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96J42-1	1	yes
Q96J42-2	2

RefSeq proteins (2): NP_001337664, NP_078991* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013766	Thioredoxin_domain	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR042418	TXNDC15	Family

Pfam: PF00085

UniProt features (18 total): glycosylation site 4, sequence variant 3, sequence conflict 2, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96J42-F1	64.90	0.33

Functional residue map

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

Glycosylation sites (4): 206, 293, 187, 194

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 318 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_CELL_PROJECTION_ORGANIZATION, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, GOBP_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOCC_CELL_PROJECTION_MEMBRANE, chr5q31, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CILIARY_MEMBRANE, GOCC_CILIUM, CHEN_METABOLIC_SYNDROM_NETWORK

GO Biological Process (3): positive regulation of smoothened signaling pathway (GO:0045880), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

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

GO Cellular Component (5): cilium (GO:0005929), ciliary membrane (GO:0060170), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1
cell projection membrane	1
bounding membrane of organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

596 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TXNDC15	CATSPER3	Q86XQ3	564
TXNDC15	TMX1	Q9H3N1	533
TXNDC15	TTC23	Q5W5X9	517
TXNDC15	CIBAR1	A1XBS5	503
TXNDC15	FAM98C	Q17RN3	493
TXNDC15	INTS10	Q9NVR2	459
TXNDC15	SLC25A48	Q6ZT89	452
TXNDC15	DDX46	Q7L014	426
TXNDC15	KRTCAP2	Q8N6L1	424
TXNDC15	CAMLG	P49069	423
TXNDC15	PCBD2	Q9H0N5	418
TXNDC15	TMX3	Q96JJ7	410
TXNDC15	CCDC125	Q86Z20	408
TXNDC15	EXOC3L2	Q2M3D2	400
TXNDC15	CFAP184	Q2M329	400
TXNDC15	MOB3A	Q96BX8	400

IntAct

43 interactions, top by confidence:

A	B	Type	Score
ASPH	TXNDC15	psi-mi:“MI:0915”(physical association)	0.560
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
SERPINA12	TSPAN6	psi-mi:“MI:0914”(association)	0.530
BRINP3	BUB1	psi-mi:“MI:0914”(association)	0.530
GRAMD2B	EFCAB14	psi-mi:“MI:0914”(association)	0.530
FUT3	C1QL1	psi-mi:“MI:0914”(association)	0.530
ZDHHC17	TXNDC15	psi-mi:“MI:0915”(physical association)	0.370
	VPS37C	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
ASIC4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
SPPL2B	GPR89A	psi-mi:“MI:0914”(association)	0.350
TXNDC15	GET1	psi-mi:“MI:0914”(association)	0.350
CCL19	DCTN6	psi-mi:“MI:0914”(association)	0.350
PATE1	MANBA	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	MANBA	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B	ADAM10	psi-mi:“MI:0914”(association)	0.350
SLC17A2	ABCD4	psi-mi:“MI:0914”(association)	0.350
ATP1B1	TM9SF1	psi-mi:“MI:0914”(association)	0.350
LCN6	COCH	psi-mi:“MI:0914”(association)	0.350
DNAJC25-GNG10	CHST10	psi-mi:“MI:0914”(association)	0.350
ATP1B4	SYNGR3	psi-mi:“MI:0914”(association)	0.350
DIPK1A	SGPL1	psi-mi:“MI:0914”(association)	0.350
IL17A	ATP1A3	psi-mi:“MI:0914”(association)	0.350
ITIH3	HSP90B1	psi-mi:“MI:0914”(association)	0.350
OBP2A	TXNDC15	psi-mi:“MI:0914”(association)	0.350
SPPL2B	HAS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (108): TXNDC15 (Two-hybrid), TXNDC15 (Affinity Capture-MS), TXNDC15 (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), KIDINS220 (Affinity Capture-MS), SGPL1 (Affinity Capture-MS), PIGU (Affinity Capture-MS), NEK4 (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), AGPAT5 (Affinity Capture-MS), PIGN (Affinity Capture-MS), CCDC109B (Affinity Capture-MS), PON2 (Affinity Capture-MS), TAPT1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA2, A2RRU4, A4FUY1, A5D7V5, A8MVS5, D4A6L0, E1BBQ2, O19131, O54693, O75144, P09564, P15151, P19438, P29590, P31994, P32506, P32507, P50555, P97260, Q14CZ8, Q28110, Q3TEW6, Q53EL9, Q5BJT4, Q5DRQ8, Q5T848, Q61190, Q640R3, Q6AYP5, Q6AYT8, Q6BAA4, Q6GQT6, Q6P6J9, Q6UX15, Q70EL4, Q75VT8, Q7TSK2, Q7Z692, Q8C419, Q8N126

Diamond homologs: Q0IHI1, Q17770, Q5BJT4, Q6P6J9, Q96J42, Q17967, Q92249

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	6	20.1×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	0
Uncertain significance	49
Likely benign	13
Benign	6

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1687008	NM_024715.4(TXNDC15):c.956dup (p.Ser321fs)	Pathogenic
1687009	NM_024715.4(TXNDC15):c.211dup (p.Gln71fs)	Pathogenic
1687010	NM_024715.4(TXNDC15):c.635T>C (p.Leu212Pro)	Pathogenic
266074	NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)	Pathogenic
266075	NM_024715.4(TXNDC15):c.103+1G>A	Pathogenic
684428	NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter)	Pathogenic
932395	NM_024715.4(TXNDC15):c.379C>T (p.Arg127Ter)	Pathogenic

SpliceAI

794 predictions. Top by Δscore:

Variant	Effect	Δscore
5:134888179:ACAG:A	donor_loss	1.0000
5:134888182:GGT:G	donor_loss	1.0000
5:134888183:G:A	donor_loss	1.0000
5:134888184:T:A	donor_loss	1.0000
5:134887690:TTTA:T	acceptor_loss	0.9900
5:134887693:A:AG	acceptor_gain	0.9900
5:134887694:G:GA	acceptor_loss	0.9900
5:134887694:G:GG	acceptor_gain	0.9900
5:134874482:TGGC:T	donor_gain	0.9800
5:134874483:GGCA:G	donor_gain	0.9800
5:134888142:GA:G	donor_gain	0.9800
5:134896289:TGTAG:T	acceptor_gain	0.9800
5:134896291:TAG:T	acceptor_gain	0.9800
5:134896420:GACAG:G	donor_gain	0.9800
5:134899483:TTTCA:T	acceptor_loss	0.9800
5:134899484:TTCAG:T	acceptor_loss	0.9800
5:134899485:TCAG:T	acceptor_loss	0.9800
5:134899486:CA:C	acceptor_loss	0.9800
5:134899488:GGT:G	acceptor_gain	0.9800
5:134896290:GTAGC:G	acceptor_gain	0.9700
5:134896292:A:AG	acceptor_gain	0.9700
5:134896293:G:GG	acceptor_gain	0.9700
5:134896293:G:T	acceptor_gain	0.9700
5:134888117:AACT:A	donor_gain	0.9600
5:134888183:G:GG	donor_gain	0.9600
5:134896292:AGC:A	acceptor_gain	0.9600
5:134899487:A:AG	acceptor_gain	0.9600
5:134899488:G:GG	acceptor_gain	0.9600
5:134874529:GG:G	donor_gain	0.9500
5:134874530:GG:G	donor_gain	0.9500

AlphaMissense

2352 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:134893538:T:A	V213D	1.000
5:134893541:T:C	L214P	1.000
5:134896311:G:A	G258D	1.000
5:134896325:C:T	P263S	1.000
5:134896326:C:A	P263H	1.000
5:134896326:C:G	P263R	1.000
5:134896341:T:C	F268S	1.000
5:134893528:T:C	C210R	0.999
5:134893529:G:A	C210Y	0.999
5:134893530:T:G	C210W	0.999
5:134893543:T:C	F215L	0.999
5:134893544:T:C	F215S	0.999
5:134893544:T:G	F215C	0.999
5:134893545:T:A	F215L	0.999
5:134893545:T:G	F215L	0.999
5:134893558:T:C	C220R	0.999
5:134893559:G:A	C220Y	0.999
5:134893559:G:T	C220F	0.999
5:134893560:C:G	C220W	0.999
5:134893564:T:C	F222L	0.999
5:134893566:T:A	F222L	0.999
5:134893566:T:G	F222L	0.999
5:134893568:C:T	S223F	0.999
5:134893580:C:A	A227D	0.999
5:134893598:T:C	L233P	0.999
5:134893609:T:C	F237L	0.999
5:134893611:T:A	F237L	0.999
5:134893611:T:G	F237L	0.999
5:134893634:T:C	L245P	0.999
5:134896307:T:C	F257L	0.999

dbSNP variants (sampled 300 via entrez): RS1000300535 (5:134885245 G>C), RS1000330596 (5:134875564 A>G), RS1000343353 (5:134895847 T>A), RS1000358682 (5:134877852 A>G), RS1000727620 (5:134899024 C>G,T), RS1000738484 (5:134891761 C>CA), RS1001006082 (5:134889065 C>T), RS1001294145 (5:134880702 C>T), RS1001467555 (5:134885556 G>A), RS1001514331 (5:134890864 T>C), RS1001588293 (5:134876836 C>T), RS1001628711 (5:134891290 A>C), RS1001678430 (5:134891804 T>C), RS1001704984 (5:134876918 T>A,C), RS1001788643 (5:134877256 G>A)

Disease associations

OMIM: gene MIM:617778 | disease phenotypes: MIM:619879, MIM:249000, MIM:601457

GenCC curated gene-disease

Disease	Classification	Inheritance
meckel syndrome 14	Strong	Autosomal recessive
Meckel syndrome	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ciliopathy	Strong	AR

Mondo (3): meckel syndrome 14 (MONDO:0030819), Meckel syndrome (MONDO:0018921), severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive (MONDO:0011086)

Orphanet (2): Meckel syndrome (Orphanet:564), Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet:331206)

HPO phenotypes

72 total (30 of 72 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000037	Male pseudohermaphroditism
HP:0000062	Ambiguous genitalia
HP:0000068	Urethral atresia
HP:0000073	Ureteral duplication
HP:0000113	Polycystic kidney dysplasia
HP:0000151	Aplasia of the uterus
HP:0000175	Cleft palate
HP:0000221	Furrowed tongue
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000293	Full cheeks
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000457	Depressed nasal ridge
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000482	Microcornea
HP:0000518	Cataract
HP:0000528	Anophthalmia
HP:0000532	Abnormal chorioretinal morphology
HP:0000568	Microphthalmia
HP:0000647	Sclerocornea

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000175_35	Height	8.000000e-06
GCST006585_331	Blood protein levels	4.000000e-17

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563311	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	9
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
butyraldehyde	decreases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects methylation, increases abundance	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Ivermectin	decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Nitrogen Dioxide	affects methylation, increases abundance	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	affects methylation, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01401998	Not specified	RECRUITING	ARPKD Database Study