ECHDC1

Summary

ECHDC1 (ethylmalonyl-CoA decarboxylase 1, HGNC:21489) is a protein-coding gene on chromosome 6q22.33, encoding Ethylmalonyl-CoA decarboxylase (Q9NTX5). Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading.

Predicted to enable carboxy-lyase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol.

Source: NCBI Gene 55862 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 34 total — 3 likely-pathogenic
• MANE Select transcript: NM_001002030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21489
Approved symbol	ECHDC1
Name	ethylmalonyl-CoA decarboxylase 1
Location	6q22.33
Locus type	gene with protein product
Status	Approved
Aliases	dJ351K20.2
Ensembl gene	ENSG00000093144
Ensembl biotype	protein_coding
OMIM	612136
Entrez	55862

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 21 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000368287, ENST00000368289, ENST00000368291, ENST00000368292, ENST00000368295, ENST00000417628, ENST00000430841, ENST00000436638, ENST00000454591, ENST00000454859, ENST00000460558, ENST00000461239, ENST00000474240, ENST00000474289, ENST00000475319, ENST00000479525, ENST00000488087, ENST00000525745, ENST00000526299, ENST00000528402, ENST00000531582, ENST00000531967, ENST00000534442, ENST00000894268, ENST00000894269, ENST00000928919, ENST00000928920, ENST00000928921, ENST00000955814, ENST00000955815

RefSeq mRNA: 5 — MANE Select: NM_001002030 NM_001002030, NM_001105544, NM_001105545, NM_001139510, NM_018479

CCDS: CCDS34530, CCDS43504, CCDS47471, CCDS47472, CCDS55054

Canonical transcript exons

ENST00000454859 — 6 exons

Exon	Start	End
ENSE00001512026	127343336	127343609
ENSE00001861847	127288712	127290277
ENSE00003469763	127330809	127331030
ENSE00003483924	127327002	127327144
ENSE00003521401	127316450	127316502
ENSE00003652715	127314816	127314896

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 98.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3317 / max 487.5155, expressed in 1788 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75423	8.4407	1715
75426	3.1716	1309
75428	2.7507	1281
75422	2.3641	225
75424	1.2734	507
75427	0.6784	393
75425	0.6527	370

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	98.35	gold quality
palpebral conjunctiva	UBERON:0001812	98.32	gold quality
parotid gland	UBERON:0001831	97.90	gold quality
mammalian vulva	UBERON:0000997	97.59	gold quality
lower lobe of lung	UBERON:0008949	97.06	gold quality
colonic mucosa	UBERON:0000317	97.01	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.97	gold quality
colonic epithelium	UBERON:0000397	96.87	gold quality
upper leg skin	UBERON:0004262	96.86	gold quality
germinal epithelium of ovary	UBERON:0001304	96.76	gold quality
visceral pleura	UBERON:0002401	96.70	gold quality
epithelium of nasopharynx	UBERON:0001951	96.58	gold quality
esophagus squamous epithelium	UBERON:0006920	96.58	gold quality
monocyte	CL:0000576	96.51	gold quality
mononuclear cell	CL:0000842	96.31	gold quality
mammary duct	UBERON:0001765	96.31	gold quality
rectum	UBERON:0001052	96.27	gold quality
parietal pleura	UBERON:0002400	96.14	gold quality
leukocyte	CL:0000738	96.06	gold quality
adipose tissue	UBERON:0001013	95.82	gold quality
skin of hip	UBERON:0001554	95.74	gold quality
pleura	UBERON:0000977	95.72	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.69	gold quality
connective tissue	UBERON:0002384	95.65	gold quality
mammary gland	UBERON:0001911	95.59	gold quality
thoracic mammary gland	UBERON:0005200	95.59	gold quality
biceps brachii	UBERON:0001507	95.57	gold quality
tonsil	UBERON:0002372	95.50	gold quality
endometrium	UBERON:0001295	95.29	gold quality
tibia	UBERON:0000979	95.27	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

91 targeting ECHDC1, 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-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426

Literature-anchored findings (GeneRIF, showing 3)

• Mutations in the coding regions of the RNF146 and ECHDC1 genes do not contribute to the burden of inherited predisposition of breast cancer in Ashkenazi high risk women. (PMID:19517271)
• Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor. (PMID:33750001)
• Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? (PMID:33973257)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Echdc1	ENSMUSG00000019883
rattus_norvegicus	Echdc1	ENSRNOG00000011622
caenorhabditis_elegans	C32E8.9	WBGENE00016325

Paralogs (13): ECH1 (ENSG00000104823), ECHDC2 (ENSG00000121310), ECHS1 (ENSG00000127884), CDY2B (ENSG00000129873), ECHDC3 (ENSG00000134463), AUH (ENSG00000148090), CDYL (ENSG00000153046), CDYL2 (ENSG00000166446), ECI1 (ENSG00000167969), CDY1 (ENSG00000172288), CDY1B (ENSG00000172352), CDY2A (ENSG00000182415), HIBCH (ENSG00000198130)

Protein

Protein identifiers

Ethylmalonyl-CoA decarboxylase — Q9NTX5 (reviewed: Q9NTX5)

Alternative names: Enoyl-CoA hydratase domain-containing protein 1, Methylmalonyl-CoA decarboxylase

All UniProt accessions (12): Q9NTX5, E9PIU8, E9PJS8, E9PLY6, E9PPG7, E9PRU6, F2Z2D6, H0Y525, H0Y5L2, H0YCS9, H0YD54, J3KP84

UniProt curated annotations — full annotation on UniProt →

Function. Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Acts preferentially on (S)-ethylmalonyl-CoA but also has some activity on the (R)-isomer. Also has methylmalonyl-CoA decarboxylase activity at lower level.

Subcellular location. Cytoplasm. Cytosol.

Similarity. Belongs to the enoyl-CoA hydratase/isomerase family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9NTX5-1	1	yes
Q9NTX5-2	2
Q9NTX5-3	3
Q9NTX5-4	4, HEL-S-76
Q9NTX5-5	5
Q9NTX5-6	6

RefSeq proteins (5): NP_001002030, NP_001099014, NP_001099015, NP_001132982, NP_060949 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001753	Enoyl-CoA_hydra/iso	Domain
IPR018376	Enoyl-CoA_hyd/isom_CS	Conserved_site
IPR029045	ClpP/crotonase-like_dom_sf	Homologous_superfamily

Pfam: PF00378

Enzyme classification (BRENDA):

• EC 4.1.1.94 — ethylmalonyl-CoA decarboxylase (BRENDA: 3 organisms, 4 substrates, 2 inhibitors, 4 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
(S)-ETHYLMALONYL-COA	0.001–0.0065	2
METHYLMALONYL-COA	0.0031–0.0151	2

Catalyzed reactions (Rhea), 3 shown:

• (2S)-ethylmalonyl-CoA + H(+) = butanoyl-CoA + CO2 (RHEA:32131)
• (2R)-ethylmalonyl-CoA + H(+) = butanoyl-CoA + CO2 (RHEA:59540)
• (S)-methylmalonyl-CoA + H(+) = propanoyl-CoA + CO2 (RHEA:61340)

UniProt features (16 total): modified residue 6, splice variant 4, initiator methionine 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NTX5-F1	90.84	0.83

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 (6): 217, 2, 2, 2, 217, 301

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, CHANDRAN_METASTASIS_DN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_LIPID_OXIDATION, GOBP_FATTY_ACID_METABOLIC_PROCESS, GOMF_CARBOXY_LYASE_ACTIVITY, GOMF_CARBON_CARBON_LYASE_ACTIVITY, chr6q22

GO Biological Process (1): fatty acid beta-oxidation (GO:0006635)

GO Molecular Function (5): methyl/ethyl malonyl-CoA decarboxylase activity (GO:0004492), carboxy-lyase activity (GO:0016831), catalytic activity (GO:0003824), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (3): cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
carboxy-lyase activity	1
carbon-carbon lyase activity	1
molecular_function	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2252 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ECHDC1	ACADSB	P45954	650
ECHDC1	RNF146	Q9NTX7	507
ECHDC1	HMGN1	P05114	501
ECHDC1	NAXD	Q8IW45	494
ECHDC1	ACAA2	P42765	470
ECHDC1	ACAA1	P09110	470
ECHDC1	ACADS	P16219	469
ECHDC1	MTCL3	Q5TF21	441
ECHDC1	CIRBP	Q14011	441
ECHDC1	MCEE	Q96PE7	424
ECHDC1	RBPJ	Q06330	410
ECHDC1	LGMN	Q99538	409
ECHDC1	NAXE	Q8NCW5	396
ECHDC1	ENDOD1	O94919	384
ECHDC1	ABHD1	Q96SE0	374

IntAct

67 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GORASP2	ECHDC1	psi-mi:“MI:0915”(physical association)	0.560
DHRS4	NDUFS2	psi-mi:“MI:0914”(association)	0.530
TMEM108	TCAF2	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
ECHDC1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
ECHDC1	MOK	psi-mi:“MI:0915”(physical association)	0.400
ECHDC1	SERBP1	psi-mi:“MI:0915”(physical association)	0.400
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
PRNP	CARNS1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
OXCT2	SHMT2	psi-mi:“MI:0914”(association)	0.350
OXCT2	CLPX	psi-mi:“MI:0914”(association)	0.350
OXCT2	NME4	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
WIPI2	AIP	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
AIFM2	PPP2CA	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
MAGEF1	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
AQP3	UBXN8	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): PNP (Co-fractionation), RMDN1 (Co-fractionation), ECHDC1 (Proximity Label-MS), ECHDC1 (Affinity Capture-MS), ECHDC1 (Affinity Capture-MS), ECHDC1 (Affinity Capture-MS), ECHDC1 (Affinity Capture-MS), SNAP47 (Affinity Capture-MS), ECHDC1 (Affinity Capture-MS), ECHDC1 (Affinity Capture-MS), ECHDC1 (Proximity Label-MS), ECHDC1 (Affinity Capture-MS), GORASP2 (Two-hybrid), ECHDC1 (Affinity Capture-MS), MOK (Proximity Label-MS)

ESM2 similar proteins: A6QP05, A9JS71, F1NB38, F1R6N4, O35459, P11172, P13439, P17256, P23965, P31754, P42125, P42126, Q03426, Q0V8R7, Q13011, Q28C91, Q28DB5, Q2HJD5, Q3MIE0, Q3URE1, Q4G176, Q58DN7, Q5E9H9, Q5E9T8, Q5HZQ8, Q5R4W0, Q5R514, Q5R824, Q5REX5, Q5RFG0, Q62651, Q62904, Q64323, Q6AYG5, Q6GLK6, Q6GM82, Q6NYL5, Q6PE15, Q7T0X7, Q8BGT5

Diamond homologs: A0QRD3, G4V4T7, I6Y3U6, P0ABU0, P0ABU1, P23966, P44960, P9WNP4, P9WNP5, Q49WG8, Q4L549, Q5HH38, Q5HQC3, Q5R4W0, Q6GAG7, Q6GI37, Q7A6A9, Q7CQ56, Q8CPQ4, Q8GYN9, Q8NXA0, Q99V48, Q9CLV5, Q9D9V3, Q9NTX5, Q9TM10, A0R4Q3, A5F2P2, C6DAL7, F1NB38, F1R6N4, O34893, Q28C91, Q2HJD5, Q5HZQ8, Q6AYG5, Q6D2L7, Q9KT58, A0A481WNM8, A1JIG4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	26
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
978062	NM_001002030.2(ECHDC1):c.221-4_222delinsTA	Likely pathogenic
978063	NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)	Likely pathogenic
978064	NM_001002030.2(ECHDC1):c.498-40AG[2]	Likely pathogenic

SpliceAI

1484 predictions. Top by Δscore:

Variant	Effect	Δscore
6:127290273:TTAAC:T	acceptor_gain	1.0000
6:127314810:TCCTA:T	donor_loss	1.0000
6:127314811:CCTAC:C	donor_loss	1.0000
6:127314812:CTACC:C	donor_loss	1.0000
6:127314813:TA:T	donor_loss	1.0000
6:127314814:A:T	donor_loss	1.0000
6:127314815:C:CT	donor_loss	1.0000
6:127314895:GT:G	acceptor_gain	1.0000
6:127314897:C:CC	acceptor_gain	1.0000
6:127330826:C:CT	donor_gain	1.0000
6:127330827:T:TT	donor_gain	1.0000
6:127330868:T:TA	donor_gain	1.0000
6:127331026:CATTT:C	acceptor_gain	1.0000
6:127331028:TTT:T	acceptor_gain	1.0000
6:127331028:TTTC:T	acceptor_loss	1.0000
6:127331029:TT:T	acceptor_gain	1.0000
6:127331029:TTCTG:T	acceptor_loss	1.0000
6:127331030:TC:T	acceptor_loss	1.0000
6:127331031:C:CC	acceptor_gain	1.0000
6:127331031:CTGG:C	acceptor_loss	1.0000
6:127290274:TAAC:T	acceptor_gain	0.9900
6:127290275:AACC:A	acceptor_loss	0.9900
6:127290276:ACCTG:A	acceptor_loss	0.9900
6:127290277:CCTGT:C	acceptor_loss	0.9900
6:127290278:C:CA	acceptor_loss	0.9900
6:127290278:C:CC	acceptor_gain	0.9900
6:127290279:T:A	acceptor_loss	0.9900
6:127312424:C:CT	donor_gain	0.9900
6:127314892:GAAGT:G	acceptor_gain	0.9900
6:127314894:AGT:A	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000010930 (6:127292570 C>T), RS1000040646 (6:127303412 G>A), RS1000055963 (6:127330024 C>A), RS1000119399 (6:127337392 C>A), RS1000152666 (6:127345145 AC>A), RS1000267393 (6:127306447 G>A,C), RS1000324905 (6:127343576 G>A,C,T), RS1000344557 (6:127312989 A>G), RS1000451228 (6:127293041 T>G), RS1000510752 (6:127329646 G>C), RS1000593064 (6:127311818 T>C), RS1000780880 (6:127343418 C>G), RS1000791598 (6:127306158 T>C), RS1000829946 (6:127317705 A>G), RS1000902067 (6:127325653 C>G)

Disease associations

OMIM: gene MIM:612136 | disease phenotypes: MIM:201470

GenCC curated gene-disease

Mondo (1): short chain acyl-CoA dehydrogenase deficiency (MONDO:0008722)

Orphanet (1): Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000162_1	Breast cancer	3.000000e-08
GCST005956_74	Waist-to-hip ratio adjusted for BMI	2.000000e-15
GCST005957_4	Waist-to-hip ratio adjusted for BMI (age <50)	5.000000e-07
GCST005958_6	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-11
GCST005962_17	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-16
GCST007637_49	Diffusing capacity of carbon monoxide	9.000000e-06
GCST90002397_479	Mean spheric corpuscular volume	8.000000e-12
GCST90013421_38	Left-handedness	1.000000e-08
GCST90020025_526	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_527	Waist-to-hip ratio adjusted for BMI	7.000000e-13
GCST90020026_809	Hip index	4.000000e-08
GCST90020027_1046	Waist-hip index	8.000000e-09
GCST90020027_1047	Waist-hip index	3.000000e-13
GCST90020029_1443	Waist circumference adjusted for body mass index	2.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0009902	handedness
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537596	Short chain Acyl CoA dehydrogenase deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases expression, affects cotreatment	3
bisphenol S	affects expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Tretinoin	decreases expression, increases expression	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
sodium arsenate	decreases expression	1
beta-lapachone	increases expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
bisphenol AF	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Clorgyline	increases expression	1
Dactinomycin	increases secretion, affects cotreatment	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1QP	Abcam HeLa ECHDC1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06759272	PHASE4	NOT_YET_RECRUITING	Impact of CYP2C19 Genotype-guided Approach in Antiplatelet Therapy on Platelet Reactivity Index Among Coronary Artery Disease (CAD) Patients
NCT05122455	PHASE2/PHASE3	COMPLETED	Effects of Edoxaban on Platelet Aggregation
NCT01427179	Not specified	RECRUITING	Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)
NCT01429727	Not specified	RECRUITING	The Virtual Multicenter Spontaneous Coronary Artery Dissection (SCAD) Registry
NCT03941184	Not specified	COMPLETED	Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity
NCT04906356	Not specified	RECRUITING	Canadian SCAD Study
NCT04936438	Not specified	ACTIVE_NOT_RECRUITING	Clinical Cohort Study - INTERCATH
NCT07317323	Not specified	RECRUITING	Norwegian Spontaneous Coronary Artery Dissection Study