ALDH8A1

Summary

ALDH8A1 (aldehyde dehydrogenase 8 family member A1, HGNC:15471) is a protein-coding gene on chromosome 6q23.3, encoding 2-aminomuconic semialdehyde dehydrogenase (Q9H2A2). Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.

This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism.

Source: NCBI Gene 64577 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 59 total — 1 pathogenic
• MANE Select transcript: NM_022568

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15471
Approved symbol	ALDH8A1
Name	aldehyde dehydrogenase 8 family member A1
Location	6q23.3
Locus type	gene with protein product
Status	Approved
Aliases	ALDH12
Ensembl gene	ENSG00000118514
Ensembl biotype	protein_coding
OMIM	606467
Entrez	64577

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 nonsense_mediated_decay

ENST00000265605, ENST00000349305, ENST00000367845, ENST00000367847, ENST00000460753, ENST00000534012, ENST00000876151, ENST00000876152, ENST00000876153, ENST00000876154, ENST00000876155, ENST00000876156

RefSeq mRNA: 3 — MANE Select: NM_022568 NM_001193480, NM_022568, NM_170771

CCDS: CCDS5171, CCDS5172, CCDS55057

Canonical transcript exons

ENST00000265605 — 7 exons

Exon	Start	End
ENSE00000798803	134929054	134929215
ENSE00000798806	134942409	134942564
ENSE00000798807	134943819	134943966
ENSE00001215372	134917393	134918867
ENSE00002153632	134949916	134950101
ENSE00003499708	134939266	134939415
ENSE00003658161	134932776	134933032

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 98.60.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5184 / max 240.9100, expressed in 21 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75698	0.4465	21
75697	0.0449	10
75699	0.0271	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nephron tubule	UBERON:0001231	98.60	gold quality
liver	UBERON:0002107	97.93	gold quality
kidney epithelium	UBERON:0004819	97.90	gold quality
renal glomerulus	UBERON:0000074	97.38	gold quality
right lobe of liver	UBERON:0001114	97.17	gold quality
metanephric glomerulus	UBERON:0004736	97.02	gold quality
adult mammalian kidney	UBERON:0000082	92.49	gold quality
renal medulla	UBERON:0000362	91.97	gold quality
kidney	UBERON:0002113	90.79	gold quality
cortex of kidney	UBERON:0001225	89.21	gold quality
metanephros	UBERON:0000081	85.32	gold quality
adult organism	UBERON:0007023	84.31	gold quality
metanephros cortex	UBERON:0010533	80.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.32	silver quality
inferior olivary complex	UBERON:0002127	79.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.29	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.16	gold quality
primary visual cortex	UBERON:0002436	76.26	gold quality
cerebellar hemisphere	UBERON:0002245	74.21	gold quality
cerebellar cortex	UBERON:0002129	73.94	gold quality
right hemisphere of cerebellum	UBERON:0014890	73.47	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	73.12	silver quality
parietal pleura	UBERON:0002400	72.87	gold quality
cerebellum	UBERON:0002037	72.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.24	gold quality
lower esophagus	UBERON:0013473	72.20	gold quality
occipital lobe	UBERON:0002021	71.82	gold quality
middle temporal gyrus	UBERON:0002771	71.43	gold quality
mucosa of stomach	UBERON:0001199	71.05	gold quality
right frontal lobe	UBERON:0002810	71.01	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)

45 targeting ALDH8A1, 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-4282	99.99	75.36	6408
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-380-3P	99.89	70.18	1978
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-6837-3P	98.42	66.71	1149
HSA-MIR-4691-5P	98.41	66.77	1343

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldh8a1	ENSDARG00000036776
mus_musculus	Aldh8a1	ENSMUSG00000037542
rattus_norvegicus	Aldh8a1	ENSRNOG00000014907
caenorhabditis_elegans		WBGENE00000116

Paralogs (17): ALDH3B1 (ENSG00000006534), ALDH3A2 (ENSG00000072210), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH5A1 (ENSG00000112294), ALDH6A1 (ENSG00000119711), ALDH1A2 (ENSG00000128918), ALDH3B2 (ENSG00000132746), ALDH1L2 (ENSG00000136010), ALDH1B1 (ENSG00000137124), ALDH9A1 (ENSG00000143149), ALDH1L1 (ENSG00000144908), ALDH4A1 (ENSG00000159423), ALDH16A1 (ENSG00000161618), ALDH7A1 (ENSG00000164904), ALDH1A1 (ENSG00000165092), ALDH1A3 (ENSG00000184254)

Protein

Protein identifiers

2-aminomuconic semialdehyde dehydrogenase — Q9H2A2 (reviewed: Q9H2A2)

Alternative names: Aldehyde dehydrogenase 12, Aldehyde dehydrogenase family 8 member A1

All UniProt accessions (3): Q9H2A2, E9PKV1, H0YF40

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney.

Pathway. Amino-acid degradation; L-kynurenine degradation.

Miscellaneous. Lacks enzymatic activity. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the aldehyde dehydrogenase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9H2A2-1	1	yes
Q9H2A2-2	2
Q9H2A2-3	3
Q9H2A2-4	4

RefSeq proteins (3): NP_001180409, NP_072090, NP_739577 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015590	Aldehyde_DH_dom	Domain
IPR016160	Ald_DH_CS_CYS	Conserved_site
IPR016161	Ald_DH/histidinol_DH	Homologous_superfamily
IPR016162	Ald_DH_N	Homologous_superfamily
IPR016163	Ald_DH_C	Homologous_superfamily
IPR029510	Ald_DH_CS_GLU	Conserved_site

Pfam: PF00171

Enzyme classification (BRENDA):

• EC 1.2.1.3 — aldehyde dehydrogenase (NAD+) (BRENDA: 46 organisms, 365 substrates, 267 inhibitors, 547 Km, 169 kcat entries)

Substrate kinetics (BRENDA)

128 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
NAD+	0.0003–16	121
ACETALDEHYDE	0.0001–80	59
PROPANAL	—	54
BENZALDEHYDE	—	21
HEXANAL	—	15
PROPIONALDEHYDE	0.0028–12	15
PHOSPHONOACETALDEHYDE	0.0032–0.5	13
GLYCOLALDEHYDE	0.005–0.69	10
FORMALDEHYDE	0.031–0.7	7
P-NITROBENZALDEHYDE	—	7
6-DIMETHYLAMINO-2-NAPHTHALDEHYDE	0.0017–0.02	6
BUTANAL	0.0002–0.045	6
METHYLGLYOXAL	0.0086–1.876	6
NADP+	0.27–8.47	6
OCTANAL	—	6

Catalyzed reactions (Rhea), 1 shown:

• 2-aminomuconate 6-semialdehyde + NAD(+) + H2O = (2Z,4E)-2-aminomuconate + NADH + 2 H(+) (RHEA:14469)

UniProt features (15 total): splice variant 4, mutagenesis site 3, active site 2, chain 1, sequence variant 1, sequence conflict 1, binding site 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2A2-F1	97.52	0.98

Functional residue map

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

Catalytic / active sites (3): 253 (proton acceptor); 287 (nucleophile); 155 (transition state stabilizer)

Ligand- & substrate-binding residues (1): 209–215

Post-translational modifications (1): 362

Mutagenesis-validated functional residues (3):

Position	Phenotype
109	about 65-fold loss of catalytic efficiency.
155	complete loss of activity.
451	complete loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5365859	RA biosynthesis pathway
R-HSA-162582	Signal Transduction
R-HSA-5362517	Signaling by Retinoic Acid
R-HSA-9006931	Signaling by Nuclear Receptors

MSigDB gene sets: 93 (showing top): GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_RETINAL_METABOLIC_PROCESS, GOBP_RETINOIC_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS

GO Biological Process (4): retinoic acid metabolic process (GO:0042573), retinal metabolic process (GO:0042574), 9-cis-retinoic acid biosynthetic process (GO:0042904), obsolete L-kynurenine catabolic process (GO:0097053)

GO Molecular Function (4): retinal dehydrogenase (NAD+) activity (GO:0001758), aminomuconate-semialdehyde dehydrogenase activity (GO:0047102), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by Retinoic Acid	1
Signaling by Nuclear Receptors	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
retinoid metabolic process	2
cellular anatomical structure	2
monocarboxylic acid metabolic process	1
hormone metabolic process	1
aldehyde metabolic process	1
olefinic compound metabolic process	1
retinoic acid biosynthetic process	1
9-cis-retinoic acid metabolic process	1
aldehyde dehydrogenase (NAD+) activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	1
catalytic activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDH8A1	ALDH18A1	P54886	615
ALDH8A1	HBS1L	Q9Y450	610
ALDH8A1	PDE7B	Q9NP56	453
ALDH8A1	AHI1	Q8N157	437
ALDH8A1	TBPL1	P62380	419
ALDH8A1	RPS12	P25398	418
ALDH8A1	ADHFE1	Q8IWW8	416
ALDH8A1	GRAMD2A	Q8IUY3	415
ALDH8A1	MCEE	Q96PE7	402
ALDH8A1	ADH6	P28332	400
ALDH8A1	SDR9C7	Q8NEX9	375
ALDH8A1	RDH16	O75452	365
ALDH8A1	ADH4	P08319	365
ALDH8A1	ADH7	P40394	365
ALDH8A1	VCPIP1	Q96JH7	356

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ALDH8A1	ALDH6A1	psi-mi:“MI:0914”(association)	0.530
LRRK2	SF3B1	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): RPUSD2 (Affinity Capture-MS), ALDH6A1 (Affinity Capture-MS), SMC4 (Affinity Capture-MS), MED15 (Affinity Capture-MS), ALDH5A1 (Co-fractionation), ALDH8A1 (Co-fractionation), ALDH8A1 (Co-fractionation), DPP3 (Co-fractionation), ESD (Co-fractionation), NPEPL1 (Co-fractionation), ALDH6A1 (Affinity Capture-MS), RPUSD2 (Affinity Capture-MS), ALDH8A1 (Affinity Capture-RNA), RPUSD2 (Affinity Capture-MS), ALDH6A1 (Affinity Capture-MS)

ESM2 similar proteins: A0R909, A1B4L2, A4IJP9, A4IPB2, A4IPF5, A5F3A7, A6X2G8, A7GKJ4, A9VRG6, B7GFV3, B7H4V1, B7HSW8, B7IUW8, B7JM99, B9J1L9, C1EV77, C3L546, C3PBP4, F8JX40, P0C6D7, P25526, P25553, P37685, P46368, P46369, P62028, P63938, P76149, P9WNY0, P9WNY1, Q29228, Q2KJH9, Q5KYK0, Q5KYR4, Q5L3K8, Q63GS0, Q66I21, Q6HP91, Q81IP0, Q81ZF8

Diamond homologs: A0A7W3RCJ3, A0B2F6, A0PST9, A0QMB9, A0R4Q0, A1KJE8, A1UVS4, A2RWD6, A3MEC6, A3NKP8, A3P6B0, A3PI00, A4JJG5, A4WUY6, A5U390, A5VPA5, A6X2G8, A6ZR27, A9AN00, A9M9H7, B0CKN3, B0RNV0, B1K708, B1Z033, B2SA42, B2TCJ9, B3VMC0, B4EHJ1, B9F3B6, B9KNS6, C0RHQ3, D4GP41, D5E1S7, E1V7V8, O32507, O93344, P05091, P0DOV9, P11884, P12762

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	48
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	Pathogenic

SpliceAI

1096 predictions. Top by Δscore:

Variant	Effect	Δscore
6:134932772:ATAC:A	donor_loss	1.0000
6:134932773:TACCT:T	donor_loss	1.0000
6:134932774:A:AC	donor_gain	1.0000
6:134932774:ACC:A	donor_loss	1.0000
6:134932775:C:CC	donor_gain	1.0000
6:134933030:CAC:C	acceptor_gain	1.0000
6:134939412:CCAG:C	acceptor_gain	1.0000
6:134939413:CAGC:C	acceptor_gain	1.0000
6:134942405:TCAC:T	donor_loss	1.0000
6:134942407:A:AC	donor_gain	1.0000
6:134942408:C:CC	donor_gain	1.0000
6:134942408:CCGA:C	donor_gain	1.0000
6:134942560:TTTCC:T	acceptor_gain	1.0000
6:134942561:TTCC:T	acceptor_gain	1.0000
6:134942562:TCC:T	acceptor_gain	1.0000
6:134942563:CC:C	acceptor_gain	1.0000
6:134942563:CCCTG:C	acceptor_gain	1.0000
6:134942564:CC:C	acceptor_gain	1.0000
6:134942565:C:CC	acceptor_gain	1.0000
6:134942565:C:T	acceptor_gain	1.0000
6:134942566:T:C	acceptor_loss	1.0000
6:134942567:G:C	acceptor_gain	1.0000
6:134942567:G:GC	acceptor_gain	1.0000
6:134942576:A:T	acceptor_gain	1.0000
6:134943813:TCTCA:T	donor_loss	1.0000
6:134943814:CTCA:C	donor_loss	1.0000
6:134943815:TCACC:T	donor_loss	1.0000
6:134943816:CA:C	donor_loss	1.0000
6:134943817:A:AC	donor_gain	1.0000
6:134943818:C:CC	donor_gain	1.0000

AlphaMissense

3194 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:134918700:A:C	F393L	0.998
6:134918700:A:T	F393L	0.998
6:134918702:A:G	F393L	0.998
6:134918508:G:C	F457L	0.997
6:134918508:G:T	F457L	0.997
6:134918510:A:G	F457L	0.997
6:134918549:A:G	W444R	0.997
6:134918549:A:T	W444R	0.997
6:134929181:A:T	V295D	0.997
6:134939393:A:C	N155K	0.997
6:134939393:A:T	N155K	0.997
6:134932933:C:T	G231E	0.996
6:134918527:C:A	R451M	0.995
6:134918673:A:C	F402L	0.995
6:134918673:A:T	F402L	0.995
6:134918675:A:G	F402L	0.995
6:134929198:A:C	C289W	0.995
6:134932934:C:A	G231W	0.995
6:134939324:C:A	K178N	0.995
6:134939324:C:G	K178N	0.995
6:134939361:G:T	A166D	0.995
6:134939398:A:G	W154R	0.995
6:134939398:A:T	W154R	0.995
6:134939402:G:C	S152R	0.995
6:134939402:G:T	S152R	0.995
6:134939404:T:G	S152R	0.995
6:134918488:C:T	G464E	0.994
6:134918506:C:T	G458E	0.994
6:134918618:C:G	A421P	0.994
6:134929214:C:A	G284V	0.994

dbSNP variants (sampled 300 via entrez): RS1000015663 (6:134928398 T>C), RS1000071204 (6:134928031 A>T), RS1000124967 (6:134941945 C>A,T), RS1000135309 (6:134934629 C>A), RS1000266697 (6:134951652 C>G), RS1000563379 (6:134943372 C>G,T), RS1000585206 (6:134939224 C>T), RS1000773289 (6:134932532 G>T), RS1000921271 (6:134933278 G>A), RS1001009200 (6:134949398 T>C), RS1001022471 (6:134926979 C>A), RS1001025154 (6:134937966 G>A,T), RS1001136626 (6:134943095 T>C), RS1001158644 (6:134927548 A>C), RS1001209556 (6:134927485 CCTTT>C)

Disease associations

OMIM: gene MIM:606467 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST002097_6	Coronary artery calcification	7.000000e-06
GCST006629_57	Pulse pressure	1.000000e-13
GCST010796_369	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_370	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_371	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_372	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_373	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_374	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_375	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_751	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_752	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_753	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_754	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_755	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_756	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_757	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_758	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_759	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_760	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_761	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_762	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_763	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_764	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09
GCST010796_765	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_766	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_767	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_768	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_769	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_770	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_771	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0005763	pulse pressure measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	8
Aflatoxin B1	affects expression, decreases expression, decreases methylation	5
Valproic Acid	increases expression, decreases expression, affects cotreatment	4
Cyclosporine	decreases expression	3
ochratoxin A	increases expression	2
(+)-JQ1 compound	decreases expression, increases expression	2
Rotenone	increases expression, decreases expression	2
Tetrachlorodibenzodioxin	increases expression, affects expression	2
aristolochic acid I	increases expression	1
OTX015	decreases expression	1
mivebresib	decreases expression	1
methyleugenol	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
senecionine	decreases expression	1
senkirkine	decreases expression	1
heliotrine	decreases expression	1
sodium bichromate	increases expression	1
cypermethrin	decreases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	increases methylation	1
racecadotril	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	decreases expression	1
PCB 180	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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