PID1

Summary

PID1 (phosphotyrosine interaction domain containing 1, HGNC:26084) is a protein-coding gene on chromosome 2q36.3, encoding PTB-containing, cubilin and LRP1-interacting protein (Q7Z2X4). Increases proliferation of preadipocytes without affecting adipocytic differentiation.

Involved in several processes, including negative regulation of ATP biosynthetic process; negative regulation of D-glucose import; and positive regulation of metabolic process. Located in cytoplasm.

Source: NCBI Gene 55022 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 42 total — 1 likely-pathogenic
• MANE Select transcript: NM_001100818

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26084
Approved symbol	PID1
Name	phosphotyrosine interaction domain containing 1
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	NYGGF4, FLJ20701
Ensembl gene	ENSG00000153823
Ensembl biotype	protein_coding
OMIM	612930
Entrez	55022

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000354069, ENST00000392054, ENST00000392055, ENST00000409462, ENST00000482518, ENST00000534952, ENST00000960981

RefSeq mRNA: 5 — MANE Select: NM_001100818 NM_001100818, NM_001330156, NM_001330157, NM_001330158, NM_017933

CCDS: CCDS2471, CCDS42830, CCDS82577, CCDS82578

Canonical transcript exons

ENST00000392055 — 3 exons

Exon	Start	End
ENSE00003484768	229155818	229155964
ENSE00003993809	229271014	229271287
ENSE00003993810	229023973	229026108

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 97.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.7405 / max 435.9598, expressed in 1355 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34389	20.9761	1349
34387	0.6961	175
34382	0.0598	35
34388	0.0085	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
descending thoracic aorta	UBERON:0002345	97.09	gold quality
thoracic aorta	UBERON:0001515	96.75	gold quality
ascending aorta	UBERON:0001496	96.71	gold quality
mucosa of stomach	UBERON:0001199	96.65	gold quality
decidua	UBERON:0002450	94.01	gold quality
calcaneal tendon	UBERON:0003701	93.83	gold quality
tibia	UBERON:0000979	92.88	gold quality
liver	UBERON:0002107	92.55	gold quality
right lobe of liver	UBERON:0001114	92.53	gold quality
right adrenal gland cortex	UBERON:0035827	92.36	gold quality
right coronary artery	UBERON:0001625	92.09	gold quality
left coronary artery	UBERON:0001626	91.74	gold quality
periodontal ligament	UBERON:0008266	91.66	gold quality
skin of hip	UBERON:0001554	91.59	gold quality
aorta	UBERON:0000947	91.34	gold quality
coronary artery	UBERON:0001621	91.17	gold quality
endothelial cell	CL:0000115	91.14	silver quality
muscle layer of sigmoid colon	UBERON:0035805	91.11	gold quality
left uterine tube	UBERON:0001303	90.99	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.93	gold quality
adrenal cortex	UBERON:0001235	90.89	gold quality
endocervix	UBERON:0000458	90.88	gold quality
monocyte	CL:0000576	90.85	gold quality
left adrenal gland cortex	UBERON:0035825	90.75	gold quality
right adrenal gland	UBERON:0001233	90.68	gold quality
mononuclear cell	CL:0000842	90.48	gold quality
leukocyte	CL:0000738	90.35	gold quality
left adrenal gland	UBERON:0001234	90.32	gold quality
omental fat pad	UBERON:0010414	89.98	gold quality
peritoneum	UBERON:0002358	89.95	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	59.39
E-MTAB-8142	yes	41.47
E-MTAB-10287	yes	15.71
E-HCAD-25	yes	15.62
E-CURD-119	yes	10.74
E-GEOD-93593	yes	4.56
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
MFN1	Activation
PPARGC1A	Activation
PPARGC1B	Activation

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

80 targeting PID1, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440

Literature-anchored findings (GeneRIF, showing 12)

• A novel gene named NYGGF4, which was expressed at a higher level in obese subjects, was isolated and characterized and could play a role in cell growth and adipogenesis process (PMID:16815647)
• Q7Z2X4 protein (PID1) identified as a cytosolic ligand of LRP1 in a trimeric complex with Cubilin. Q7Z2X4 named PCLI1 (PTB-containing, Cubilin and LRP1 Interacting protein 1) (PMID:17124247)
• Data show that NYGGF4 regulates the functions of IRS-1 and Akt, decreases GLUT4 translocation and reduces glucose uptake in response to insulin. (PMID:19079291)
• NYGGF4 over-expression impairs the insulin sensitivity of 3T3-L1 adipocytes through decreasing GLUT4 translocation and had no effects on the secretory function of adipocytes. (PMID:19849947)
• TNFA up-regulated the expression of NYGGF4 during preadipocyte differentiation. (PMID:20140872)
• Overexpression of NYGGF4 caused mitochondrial dysfunction in adipocytes, which might be responsible for the development of NYGGF4-induced insulin resistance. (PMID:20165904)
• NYGGF4 acts directly on the IRS1/PI3K/AKT insulin pathway to reduce glucose uptake and transport, impairs mitochondrial function and causes insulin resistance, and thus may be a useful therapeutic target for obesity-associated insulin resistance. (PMID:22284633)
• NYGGF4 plays a role in IR and its effects on IR could be reversed by metformin through activating IRS-1/PI3K/Akt and AMPK-PGC1-alpha pathways. (PMID:22968630)
• overexpression of TFAM can restore mitochondrial function to normal levels in NYGGF4-overexpressing adipocytes (PMID:23274913)
• Overall survival and radiation-free progression-free survival were longer in medulloblastoma patients whose tumors had higher PID1 mRNA levels. (PMID:24300787)
• By acting as an insulin-dependent retention adaptor, PID1 serves as a regulator of LRP1 function controlling the disposal of postprandial lipoproteins. (PMID:30100244)
• PID1 reduces serum HDL-Cholesterol levels. (PMID:31339628)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pid1	ENSDARG00000098984
mus_musculus	Pid1	ENSMUSG00000045658
rattus_norvegicus	Pid1	ENSRNOG00000029735

Protein

Protein identifiers

PTB-containing, cubilin and LRP1-interacting protein — Q7Z2X4 (reviewed: Q7Z2X4)

Alternative names: Phosphotyrosine interaction domain-containing protein 1, Protein NYGGF4

All UniProt accessions (2): Q7Z2X4, F5H314

UniProt curated annotations — full annotation on UniProt →

Function. Increases proliferation of preadipocytes without affecting adipocytic differentiation.

Subunit / interactions. Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with LRP1 and CUBN.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in subcutaneous fat, heart, skeletal muscle, brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte.

Induction. Up-regulated in fat of obese subjects.

Polymorphism. Some sequences seem to have a duplication of exon 2.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z2X4-1	1	yes
Q7Z2X4-2	2
Q7Z2X4-3	3
Q7Z2X4-4	4

RefSeq proteins (5): NP_001094288, NP_001317085, NP_001317086, NP_001317087, NP_060403 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR039112	PID1	Family
IPR039114	PID1_PTB	Domain

Pfam: PF14719

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z2X4-F1	67.82	0.35

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 (2): 236, 247

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 282 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_CARBOHYDRATE_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS

GO Biological Process (23): energy reserve metabolic process (GO:0006112), mitochondrion organization (GO:0007005), positive regulation of gene expression (GO:0010628), regulation of mitochondrial fusion (GO:0010635), cellular response to leptin stimulus (GO:0044320), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of D-glucose import across plasma membrane (GO:0046325), negative regulation of insulin receptor signaling pathway (GO:0046627), regulation of mitochondrial membrane potential (GO:0051881), positive regulation of fat cell proliferation (GO:0070346), cellular response to cytokine stimulus (GO:0071345), cellular response to interleukin-6 (GO:0071354), cellular response to tumor necrosis factor (GO:0071356), cellular response to fatty acid (GO:0071398), negative regulation of protein localization to plasma membrane (GO:1903077), regulation of reactive oxygen species metabolic process (GO:2000377), positive regulation of reactive oxygen species metabolic process (GO:2000379), negative regulation of ATP biosynthetic process (GO:2001170), positive regulation of ATP biosynthetic process (GO:2001171), positive regulation of biosynthetic process (GO:0009891), regulation of cell population proliferation (GO:0042127), obsolete positive regulation of nucleobase-containing compound metabolic process (GO:0045935), regulation of ATP biosynthetic process (GO:2001169)

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

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular response to cytokine stimulus	2
reactive oxygen species metabolic process	2
positive regulation of metabolic process	2
ATP biosynthetic process	2
regulation of ATP biosynthetic process	2
energy derivation by oxidation of organic compounds	1
organelle organization	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
mitochondrial fusion	1
regulation of mitochondrion organization	1
regulation of anatomical structure morphogenesis	1
cellular response to hormone stimulus	1
response to leptin	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
negative regulation of D-glucose transmembrane transport	1
regulation of D-glucose import across plasma membrane	1
D-glucose import across plasma membrane	1
insulin receptor signaling pathway	1
negative regulation of signal transduction	1
regulation of insulin receptor signaling pathway	1
negative regulation of cellular response to insulin stimulus	1
regulation of membrane potential	1
positive regulation of cell population proliferation	1
fat cell proliferation	1
regulation of fat cell proliferation	1
response to cytokine	1
response to interleukin-6	1
response to tumor necrosis factor	1
response to fatty acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
regulation of metabolic process	1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PID1	NTM	Q9P121	688
PID1	HSF4	Q9ULV5	681
PID1	MFGE8	Q08431	635
PID1	TFCP2	Q12800	626
PID1	FAM13A	O94988	582
PID1	GSTCD	Q8NEC7	576
PID1	THSD4	Q6ZMP0	544
PID1	INTS12	Q96CB8	529
PID1	SLC2A4	P14672	517
PID1	FABP4	P15090	492
PID1	IRS1	P35568	492
PID1	MSMB	P08118	490
PID1	PPT2	Q9UMR5	480
PID1	MIIP	Q5JXC2	476
PID1	SPHKAP	Q2M3C7	473

IntAct

39 interactions, top by confidence:

A	B	Type	Score
PID1	CRX	psi-mi:“MI:0915”(physical association)	0.560
PID1	NME1	psi-mi:“MI:0915”(physical association)	0.560
PID1		psi-mi:“MI:0915”(physical association)	0.560
	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	PID1	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	BANP	psi-mi:“MI:0915”(physical association)	0.560
CBY2	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	MDFI	psi-mi:“MI:0915”(physical association)	0.560
GOPC	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	THAP1	psi-mi:“MI:0915”(physical association)	0.560
CRX	PID1	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560
BANP	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	CBY2	psi-mi:“MI:0915”(physical association)	0.560
MDFI	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	GOPC	psi-mi:“MI:0915”(physical association)	0.560
NME1	PID1	psi-mi:“MI:0915”(physical association)	0.560
PID1	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (31): PID1 (Two-hybrid), PID1 (Two-hybrid), PID1 (Two-hybrid), PID1 (Two-hybrid), PID1 (Two-hybrid), PID1 (Two-hybrid), THAP1 (Two-hybrid), GOPC (Two-hybrid), CCDC33 (Two-hybrid), SPERT (Two-hybrid), KRTAP10-1 (Two-hybrid), NOTCH2NL (Two-hybrid), PID1 (Affinity Capture-MS), PID1 (Affinity Capture-RNA), PID1 (Two-hybrid)

ESM2 similar proteins: A0A2R8VHF7, A0JM23, A2QRA0, A4IIA7, A4IIV4, A6NFN9, A6NHR9, A7MBF6, F4IG73, F4JSE7, O17482, O95876, P12540, P21784, P34089, P38899, P55895, P56696, Q08AW4, Q0D2D7, Q12789, Q13829, Q28DC9, Q2WGJ8, Q3E7Y5, Q3UUE9, Q4R907, Q4VXA5, Q5BK83, Q5EA90, Q5F476, Q5HZS2, Q5M9F0, Q5RAX4, Q5RBH4, Q5RD21, Q6AYL6, Q6DGA7, Q6PIY5, Q70XZ2

Diamond homologs: Q3UBG2, Q7Z2X4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	34
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
982191	NM_001100818.2(PID1):c.586G>A (p.Asp196Asn)	Likely pathogenic

SpliceAI

1892 predictions. Top by Δscore:

Variant	Effect	Δscore
2:229026109:C:CA	acceptor_loss	1.0000
2:229026110:T:A	acceptor_loss	1.0000
2:229026112:CAGA:C	acceptor_gain	1.0000
2:229026115:A:AC	acceptor_gain	1.0000
2:229026115:A:C	acceptor_gain	1.0000
2:229026118:C:CT	acceptor_gain	1.0000
2:229026119:A:T	acceptor_gain	1.0000
2:229155815:TA:T	donor_loss	1.0000
2:229155816:A:C	donor_loss	1.0000
2:229155961:AGTG:A	acceptor_gain	1.0000
2:229155962:GTG:G	acceptor_gain	1.0000
2:229155963:TG:T	acceptor_gain	1.0000
2:229155965:C:CC	acceptor_gain	1.0000
2:229155966:T:C	acceptor_loss	1.0000
2:229271009:CTTAC:C	donor_loss	1.0000
2:229271010:TTACC:T	donor_loss	1.0000
2:229271011:TACC:T	donor_loss	1.0000
2:229026105:TAAC:T	acceptor_gain	0.9900
2:229026107:AC:A	acceptor_gain	0.9900
2:229026108:CC:C	acceptor_gain	0.9900
2:229026109:C:CC	acceptor_gain	0.9900
2:229155960:AAGTG:A	acceptor_gain	0.9900
2:229155974:A:T	acceptor_gain	0.9900
2:229271012:A:AC	donor_gain	0.9900
2:229271013:C:CC	donor_gain	0.9900
2:229271013:CCTG:C	donor_gain	0.9900
2:229026104:GTAAC:G	acceptor_gain	0.9800
2:229026106:AAC:A	acceptor_gain	0.9800
2:229026113:A:T	acceptor_gain	0.9800
2:229069597:G:C	donor_gain	0.9800

AlphaMissense

1457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:229025789:G:T	A199D	0.999
2:229025841:A:G	W182R	0.999
2:229025841:A:T	W182R	0.999
2:229025843:G:T	A181D	0.999
2:229025846:A:G	F180S	0.999
2:229026041:A:T	V115D	0.999
2:229025753:A:G	L211P	0.998
2:229025762:G:T	A208D	0.998
2:229025790:C:G	A199P	0.998
2:229025873:G:T	A171D	0.998
2:229025878:G:C	C169W	0.998
2:229025891:C:G	R165P	0.998
2:229025951:A:G	L145P	0.998
2:229025728:G:C	F219L	0.997
2:229025728:G:T	F219L	0.997
2:229025730:A:G	F219L	0.997
2:229025781:A:G	C202R	0.997
2:229025786:A:T	V200E	0.997
2:229025796:A:G	C197R	0.997
2:229025839:C:A	W182C	0.997
2:229025839:C:G	W182C	0.997
2:229025844:C:G	A181P	0.997
2:229025880:A:G	C169R	0.997
2:229025888:A:C	I166S	0.997
2:229025888:A:T	I166N	0.997
2:229025957:A:T	V143D	0.997
2:229025750:G:T	A212D	0.996
2:229025779:G:C	C202W	0.996
2:229025840:C:G	W182S	0.996
2:229025879:C:T	C169Y	0.996

dbSNP variants (sampled 300 via entrez): RS1000000067 (2:229149737 T>G), RS1000010404 (2:229261568 T>C), RS1000015817 (2:229093596 G>C), RS1000037887 (2:229133036 T>C), RS1000048428 (2:229194009 T>C), RS1000049130 (2:229220226 C>T), RS1000083599 (2:229261955 T>C), RS1000086198 (2:229234394 G>A), RS1000106335 (2:229060856 G>C), RS1000107499 (2:229173158 T>C), RS1000117280 (2:229054203 C>T), RS1000142236 (2:229208461 C>T), RS1000145316 (2:229103547 G>C), RS1000147602 (2:229143570 G>C), RS1000159927 (2:229236059 G>C)

Disease associations

OMIM: gene MIM:612930 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (1): Moyamoya angiopathy (Orphanet:477768)

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000885_10	Response to antipsychotic treatment in schizophrenia (reasoning)	3.000000e-06
GCST001784_27	Pulmonary function (smoking interaction)	2.000000e-09
GCST004147_27	Chronic obstructive pulmonary disease	2.000000e-09
GCST004185_43	Lung function (FEV1/FVC)	9.000000e-12
GCST006463_7	Urinary albumin excretion (no hypertensive medication)	1.000000e-10
GCST006586_8	Urinary albumin excretion	9.000000e-23
GCST007203_12	Total cholesterol levels	6.000000e-06
GCST007430_92	Peak expiratory flow	3.000000e-12
GCST007431_75	Lung function (FEV1/FVC)	9.000000e-63
GCST007432_117	FEV1	1.000000e-06
GCST007692_94	Chronic obstructive pulmonary disease	2.000000e-20
GCST007939_12	Medication use (antimigraine preparations)	2.000000e-08
GCST010242_237	HDL cholesterol levels	1.000000e-08
GCST010244_110	Triglyceride levels	7.000000e-09
GCST010866_45	Coronary artery disease	2.000000e-12
GCST010867_55	Coronary artery disease	1.000000e-08
GCST011536_7	Intestinal permeability measurement	8.000000e-06
GCST012227_1244	Hip circumference adjusted for BMI	3.000000e-08

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004350	reasoning
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0004285	albuminuria
EFO:0004574	total cholesterol measurement
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0009939	Antimigraine preparation use measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0011031	intestinal permeability measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects expression, affects cotreatment, increases expression	4
Valproic Acid	affects expression, increases expression	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
sodium arsenite	decreases expression, increases expression	3
perfluorooctane sulfonic acid	decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation, affects methylation	3
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
Arsenic	decreases expression, increases abundance	2
Progesterone	increases expression, affects cotreatment	2
Asbestos, Crocidolite	affects expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
pirprofen	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
chloroquine diphosphate	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	increases expression, affects cotreatment	1
cupric chloride	increases expression	1
esmolol	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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