PDXDC1

Summary

PDXDC1 (pyridoxal dependent decarboxylase domain containing 1, HGNC:28995) is a protein-coding gene on chromosome 16p13.11, encoding Pyridoxal-dependent decarboxylase domain-containing protein 1 (Q6P996).

Enables cadherin binding activity. Predicted to be involved in carboxylic acid metabolic process. Located in Golgi apparatus.

Source: NCBI Gene 23042 — RefSeq curated summary.

At a glance

• GWAS associations: 38
• Clinical variants (ClinVar): 309 total — 1 pathogenic
• MANE Select transcript: NM_015027

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28995
Approved symbol	PDXDC1
Name	pyridoxal dependent decarboxylase domain containing 1
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0251
Ensembl gene	ENSG00000179889
Ensembl biotype	protein_coding
OMIM	614244
Entrez	23042

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 26 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000396410, ENST00000450288, ENST00000455313, ENST00000535621, ENST00000561930, ENST00000562119, ENST00000563522, ENST00000563667, ENST00000563679, ENST00000565362, ENST00000565986, ENST00000566426, ENST00000566633, ENST00000567306, ENST00000569715, ENST00000570001, ENST00000627450, ENST00000850603, ENST00000850604, ENST00000850605, ENST00000881197, ENST00000881198, ENST00000881199, ENST00000881200, ENST00000881201, ENST00000881202, ENST00000881203, ENST00000881204, ENST00000940247, ENST00000940248, ENST00000957850, ENST00000957851

RefSeq mRNA: 10 — MANE Select: NM_015027 NM_001285444, NM_001285445, NM_001285447, NM_001285448, NM_001285449, NM_001285450, NM_001324019, NM_001324020, NM_001324021, NM_015027

CCDS: CCDS32393, CCDS66954, CCDS66955, CCDS66957, CCDS73830, CCDS73831

Canonical transcript exons

ENST00000396410 — 23 exons

Exon	Start	End
ENSE00001287712	15032861	15032979
ENSE00001287720	15031735	15031906
ENSE00002164437	14975026	14975220
ENSE00002585281	15036016	15038332
ENSE00003459387	15022704	15022754
ENSE00003459503	15029951	15030056
ENSE00003498107	15017120	15017168
ENSE00003503345	14997753	14997826
ENSE00003507262	15018840	15018965
ENSE00003516728	15009681	15009759
ENSE00003539179	15033278	15033399
ENSE00003540433	15034286	15034378
ENSE00003547011	15008779	15008847
ENSE00003557500	15026643	15026706
ENSE00003572931	15004187	15004333
ENSE00003582215	15017321	15017422
ENSE00003582528	15034457	15034553
ENSE00003627086	15028878	15028966
ENSE00003631138	14998340	14998405
ENSE00003635314	15006394	15006583
ENSE00003642069	15035449	15035553
ENSE00003651156	15016129	15016213
ENSE00003654670	15001776	15001856

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 98.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8428 / max 257.1184, expressed in 1806 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152882	4.4077	1666
152880	4.2529	1570
152881	2.8841	1456
152883	2.1744	1130
152886	0.1237	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	98.52	gold quality
right testis	UBERON:0004534	98.30	gold quality
left testis	UBERON:0004533	98.21	gold quality
colonic epithelium	UBERON:0000397	98.10	gold quality
body of pancreas	UBERON:0001150	97.68	gold quality
minor salivary gland	UBERON:0001830	97.25	gold quality
islet of Langerhans	UBERON:0000006	97.21	gold quality
right lobe of liver	UBERON:0001114	97.19	gold quality
sural nerve	UBERON:0015488	97.19	gold quality
gall bladder	UBERON:0002110	97.18	gold quality
transverse colon	UBERON:0001157	97.06	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.06	gold quality
calcaneal tendon	UBERON:0003701	96.95	gold quality
body of stomach	UBERON:0001161	96.86	gold quality
adenohypophysis	UBERON:0002196	96.70	gold quality
mucosa of transverse colon	UBERON:0004991	96.61	gold quality
stromal cell of endometrium	CL:0002255	96.44	gold quality
smooth muscle tissue	UBERON:0001135	96.28	gold quality
left lobe of thyroid gland	UBERON:0001120	96.27	gold quality
right lobe of thyroid gland	UBERON:0001119	96.24	gold quality
endocervix	UBERON:0000458	96.17	gold quality
metanephros cortex	UBERON:0010533	96.17	gold quality
pancreas	UBERON:0001264	96.11	gold quality
bone marrow cell	CL:0002092	95.99	gold quality
popliteal artery	UBERON:0002250	95.41	gold quality
tibial artery	UBERON:0007610	95.41	gold quality
mucosa of stomach	UBERON:0001199	95.40	gold quality
ascending aorta	UBERON:0001496	95.34	gold quality
thoracic aorta	UBERON:0001515	95.33	gold quality
stomach	UBERON:0000945	95.32	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.34
E-MTAB-6379	no	232.63
E-MTAB-6058	no	47.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting PDXDC1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
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-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6513-3P	99.59	69.77	1102

Literature-anchored findings (GeneRIF, showing 2)

• This study’s results suggest that Pdxdc1 may regulate acoustic pre-pulse inhibition and could be a good target for further investigation as a potential treatment for schizophrenia. (PMID:28485732)
• Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene. (PMID:32644145)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdxdc1	ENSDARG00000101886
mus_musculus	Pdxdc1	ENSMUSG00000022680
rattus_norvegicus	Pdxdc1	ENSRNOG00000002407
drosophila_melanogaster	CG1486	FBGN0031174
caenorhabditis_elegans		WBGENE00007593

Paralogs (7): GAD1 (ENSG00000128683), DDC (ENSG00000132437), GAD2 (ENSG00000136750), CSAD (ENSG00000139631), HDC (ENSG00000140287), GADL1 (ENSG00000144644), SGPL1 (ENSG00000166224)

Protein

Protein identifiers

Pyridoxal-dependent decarboxylase domain-containing protein 1 — Q6P996 (reviewed: Q6P996)

All UniProt accessions (9): Q6P996, H3BM88, H3BND4, H3BNL6, H3BPV5, H3BQ54, H3BQS3, H3BU11, Q86XE2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the group II decarboxylase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6P996-1	1	yes
Q6P996-2	2
Q6P996-3	3
Q6P996-4	4
Q6P996-5	5

RefSeq proteins (10): NP_001272373, NP_001272374, NP_001272376, NP_001272377, NP_001272378, NP_001272379, NP_001310948, NP_001310949, NP_001310950, NP_055842* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002129	PyrdxlP-dep_de-COase	Domain
IPR015421	PyrdxlP-dep_Trfase_major	Homologous_superfamily
IPR015424	PyrdxlP-dep_Trfase	Homologous_superfamily
IPR050477	GrpII_AminoAcid_Decarb	Family
IPR055102	PDXDC1-like_3rd	Domain
IPR055103	PDXDC1-like_2nd	Domain

Pfam: PF00282, PF22930, PF22937

UniProt features (33 total): modified residue 11, splice variant 7, sequence conflict 7, compositionally biased region 4, region of interest 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P996-F1	75.13	0.40

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 (11): 691, 710, 718, 722, 748, 757, 779, 786, 414, 652, 687

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 182 (showing top): TGCGCANK_UNKNOWN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_ATRX, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, YOKOE_CANCER_TESTIS_ANTIGENS, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, MORF_PPP5C, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, CREB_Q2_01, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, COATES_MACROPHAGE_M1_VS_M2_DN

GO Biological Process (1): carboxylic acid metabolic process (GO:0019752)

GO Molecular Function (5): carboxy-lyase activity (GO:0016831), pyridoxal phosphate binding (GO:0030170), cadherin binding (GO:0045296), lyase activity (GO:0016829), carbon-carbon lyase activity (GO:0016830)

GO Cellular Component (1): Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxoacid metabolic process	1
carbon-carbon lyase activity	1
anion binding	1
vitamin B6 binding	1
cell adhesion molecule binding	1
catalytic activity	1
lyase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDXDC1	BFAR	Q9NZS9	915
PDXDC1	NOMO1	P78421	887
PDXDC1	NTAN1	Q96AB6	724
PDXDC1	RRN3	Q9NYV6	710
PDXDC1	MPV17L	Q2QL34	667
PDXDC1	H3BMD7	H3BMD7	649
PDXDC1	MARF1	Q9Y4F3	540
PDXDC1	ZNF765	Q7L2R6	516
PDXDC1	BCAP29	Q9UHQ4	512
PDXDC1	KIAA2013	Q8IYS2	505
PDXDC1	PPP1R35	Q8TAP8	501
PDXDC1	STEEP1	Q9H5V9	501
PDXDC1	PPP1R26	Q5T8A7	491
PDXDC1	MYO1D	O94832	490
PDXDC1	WDR27	A2RRH5	480

IntAct

151 interactions, top by confidence:

A	B	Type	Score
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
TMEM108	TCAF2	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
PTGIR	TMEM63A	psi-mi:“MI:0914”(association)	0.530
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
CD244	MTX2	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
PDXDC2P	PDXDC1	psi-mi:“MI:0915”(physical association)	0.400
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:0914”(association)	0.350
	IPO5	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	SNAP23	psi-mi:“MI:0914”(association)	0.350

BioGRID (283): PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), NSFL1C (Co-fractionation), PDXDC1 (Affinity Capture-MS), PDXDC1 (Proximity Label-MS), PDXDC1 (Proximity Label-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Proximity Label-MS), PDXDC1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GXY4, A4D1P6, A8XSV3, B0JZ65, B0R160, B0WYR6, E9Q7R9, F1REV3, F6S215, O00443, O65418, P50748, Q09178, Q12769, Q17I16, Q19317, Q2TAW0, Q3MHH2, Q402B2, Q4V9P9, Q5R6T6, Q5RAY1, Q5RB52, Q5RE88, Q5ZJY3, Q5ZL79, Q5ZLL7, Q6DTM3, Q6GM71, Q6INI5, Q6P996, Q6X9E4, Q6ZQQ6, Q7TMQ7, Q86XI2, Q8BJW5, Q8BMQ2, Q8C3Y4, Q8K3E5, Q8N157

Diamond homologs: A7MBC2, Q66HY8, Q6DF78, Q6P474, Q6P996, Q99K01, O96569

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAPK1	unknown	PDXDC1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 203 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Downstream signal transduction	6	17.0×	2e-04
PI3K Cascade	5	10.2×	6e-03
Transport of vitamins, nucleosides, and related molecules	5	10.2×	6e-03
Signaling by FGFR2 in disease	5	9.9×	6e-03
Constitutive Signaling by Aberrant PI3K in Cancer	10	9.5×	5e-05
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	10	7.2×	2e-04
RAF/MAP kinase cascade	11	5.0×	1e-03
PIP3 activates AKT signaling	10	5.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
D-glucose transmembrane transport	5	26.6×	1e-03
peptidyl-tyrosine phosphorylation	5	12.0×	1e-02
phospholipase C-activating G protein-coupled receptor signaling pathway	9	6.7×	5e-03
protein autophosphorylation	8	6.6×	7e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	11	4.9×	6e-03
G protein-coupled receptor signaling pathway	16	3.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	221
Likely benign	18
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1180506	GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1	Pathogenic

SpliceAI

8546 predictions. Top by Δscore:

Variant	Effect	Δscore
16:14975155:G:GT	donor_gain	1.0000
16:14975216:AGAAG:A	donor_loss	1.0000
16:14975218:AAGGT:A	donor_loss	1.0000
16:14975219:AGGT:A	donor_loss	1.0000
16:14975221:G:C	donor_loss	1.0000
16:14997743:T:TA	acceptor_gain	1.0000
16:14997750:CA:C	acceptor_loss	1.0000
16:14997751:A:AG	acceptor_gain	1.0000
16:14997751:A:G	acceptor_loss	1.0000
16:14997752:G:GT	acceptor_gain	1.0000
16:14997752:GA:G	acceptor_gain	1.0000
16:14997752:GAT:G	acceptor_gain	1.0000
16:14997752:GATA:G	acceptor_gain	1.0000
16:14997824:GAG:G	donor_gain	1.0000
16:14997825:AGG:A	donor_loss	1.0000
16:14997826:GGT:G	donor_loss	1.0000
16:14997827:G:GG	donor_gain	1.0000
16:14997827:GTGA:G	donor_loss	1.0000
16:14998333:A:AG	acceptor_gain	1.0000
16:14998334:A:G	acceptor_gain	1.0000
16:14998338:A:AG	acceptor_gain	1.0000
16:14998339:G:GA	acceptor_gain	1.0000
16:14998339:GAA:G	acceptor_gain	1.0000
16:15001774:A:AG	acceptor_gain	1.0000
16:15001774:AGT:A	acceptor_gain	1.0000
16:15001774:AGTG:A	acceptor_gain	1.0000
16:15001775:G:GG	acceptor_gain	1.0000
16:15001775:GT:G	acceptor_gain	1.0000
16:15001775:GTG:G	acceptor_gain	1.0000
16:15001775:GTGG:G	acceptor_gain	1.0000

AlphaMissense

5119 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:15017339:A:C	S294R	0.999
16:15017341:C:A	S294R	0.999
16:15017341:C:G	S294R	0.999
16:15018900:T:A	W342R	0.999
16:15018900:T:C	W342R	0.999
16:15006533:T:G	Y177D	0.998
16:15016212:G:C	G271R	0.998
16:15017363:T:A	W302R	0.998
16:15017363:T:C	W302R	0.998
16:15006539:A:C	S179R	0.997
16:15006541:T:A	S179R	0.997
16:15006541:T:G	S179R	0.997
16:15009694:T:C	L221P	0.997
16:15034331:G:C	A620P	0.997
16:15004233:A:C	S97R	0.996
16:15004235:T:A	S97R	0.996
16:15004235:T:G	S97R	0.996
16:15004294:T:A	I117K	0.996
16:15006437:G:A	G145R	0.996
16:15006437:G:C	G145R	0.996
16:15016213:G:T	G271V	0.996
16:15017394:C:A	T312K	0.996
16:15006459:T:C	L152P	0.995
16:15008786:T:C	L196S	0.995
16:15009751:C:A	A240E	0.995
16:15016129:G:A	G243E	0.995
16:15016152:G:C	D251H	0.995
16:15004227:G:A	G95R	0.994
16:15004227:G:C	G95R	0.994
16:15006452:T:C	C150R	0.994

dbSNP variants (sampled 300 via entrez): RS1000007371 (16:15032331 A>G), RS1000038947 (16:15107822 A>C), RS1000043521 (16:15125949 G>A,T), RS1000050810 (16:15087395 C>A,G), RS1000091517 (16:15135686 G>A,T), RS1000100096 (16:15051935 T>C), RS1000108886 (16:15129349 G>A), RS1000114780 (16:14977536 C>T), RS1000125173 (16:14993253 T>C,G), RS1000205622 (16:15122165 AAAACAAAC>A,AAAAC,AAAACAAACAAAC), RS1000220188 (16:15036096 G>C), RS1000226436 (16:15146109 G>A), RS1000263531 (16:15126039 ATT>A,AT,ATTT,ATTTT), RS1000272266 (16:14977016 T>C), RS1000287147 (16:15046029 T>C)

Disease associations

OMIM: gene MIM:614244 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST000611_1	Height	7.000000e-06
GCST001180_2	Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid)	3.000000e-07
GCST001217_34	Metabolic traits	5.000000e-16
GCST001414_9	Phospholipid levels (plasma)	6.000000e-23
GCST002216_40	Triglycerides	2.000000e-08
GCST002444_7	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	2.000000e-67
GCST002444_8	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	5.000000e-25
GCST002446_5	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	1.000000e-15
GCST002446_8	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-14
GCST002449_7	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	2.000000e-10
GCST002450_10	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	2.000000e-12
GCST002783_139	Body mass index	5.000000e-06
GCST002783_326	Body mass index	2.000000e-06
GCST002783_603	Body mass index	6.000000e-07
GCST002938_5	Copper levels	6.000000e-07
GCST004066_57	Hip circumference	5.000000e-07
GCST004066_58	Hip circumference	1.000000e-08
GCST004237_16	Triglyceride levels	6.000000e-09
GCST004904_120	Body mass index	1.000000e-09
GCST007635_5	Fatty acid desaturase activity (serum)	5.000000e-08
GCST008129_26	Body mass index	2.000000e-09
GCST008151_95	Waist circumference	1.000000e-06
GCST008152_71	Weight	2.000000e-06
GCST008160_97	Waist circumference	1.000000e-06
GCST008595_202	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	6.000000e-11
GCST008839_113	Height	4.000000e-16
GCST008932_11	Cholesteryl ester levels	2.000000e-06
GCST009364_17	Triglyceride levels x long total sleep time interaction (2df test)	3.000000e-09
GCST009602_16	Metabolic syndrome	7.000000e-11
GCST010136_16	Fruit consumption	2.000000e-08

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0007759	alpha-linolenic acid measurement
EFO:0004725	metabolite measurement
EFO:0004530	triglyceride measurement
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0004340	body mass index
EFO:0004338	body weight
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0008589	esterified cholesterol measurement
EFO:0000195	metabolic syndrome
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression, increases expression, affects expression	4
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
Valproic Acid	affects expression, decreases methylation	2
Aflatoxin B1	decreases methylation	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects expression	1
beta-lapachone	increases expression	1
ochratoxin A	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
avobenzone	increases expression	1
pentabromodiphenyl ether	increases expression	1
K 7174	increases expression	1
bisphenol S	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Caffeine	affects phosphorylation	1
Dietary Carbohydrates	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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