PLEKHG1

Summary

PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1, HGNC:20884) is a protein-coding gene on chromosome 6q25.1, encoding Pleckstrin homology domain-containing family G member 1 (Q9ULL1). Acts as a guanine nucleotide exchange factor (GEF) for RAC1 and CDC42.

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm.

Source: NCBI Gene 57480 — RefSeq curated summary.

At a glance

• Gene–disease (curated): periventricular leukomalacia (Limited, GenCC)
• GWAS associations: 53
• Clinical variants (ClinVar): 211 total
• MANE Select transcript: NM_001029884

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20884
Approved symbol	PLEKHG1
Name	pleckstrin homology and RhoGEF domain containing G1
Location	6q25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1209, ARHGEF41
Ensembl gene	ENSG00000120278
Ensembl biotype	protein_coding
OMIM	620134
Entrez	57480

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000358517, ENST00000367326, ENST00000475490, ENST00000643446, ENST00000643692, ENST00000644913, ENST00000644968, ENST00000644996, ENST00000696526, ENST00000856903, ENST00000856904, ENST00000856905, ENST00000856906

RefSeq mRNA: 10 — MANE Select: NM_001029884 NM_001029884, NM_001329798, NM_001329799, NM_001329800, NM_001329801, NM_001329802, NM_001329803, NM_001329804, NM_001329805, NM_001329806

CCDS: CCDS34552

Canonical transcript exons

ENST00000696526 — 17 exons

Exon	Start	End
ENSE00000896368	150830582	150832205
ENSE00001444240	150768638	150768738
ENSE00001444243	150733584	150734092
ENSE00001444244	150650728	150650786
ENSE00002144715	150795856	150795902
ENSE00002149817	150818183	150818216
ENSE00002153376	150821195	150821233
ENSE00002154487	150786390	150786459
ENSE00002157786	150823654	150823676
ENSE00002159529	150800719	150800869
ENSE00002170315	150819679	150819774
ENSE00002179256	150809648	150809734
ENSE00002183330	150809105	150809287
ENSE00002185712	150804610	150804741
ENSE00002198164	150809381	150809476
ENSE00003819735	150839833	150843665
ENSE00003967605	150599885	150600017

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 88.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0503 / max 195.1328, expressed in 1189 samples.

FANTOM5 promoters (24 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70532	5.4812	1115
70549	1.1030	278
70548	0.3908	170
70540	0.3838	180
70541	0.3714	166
70537	0.3635	81
70531	0.3554	195
70538	0.2347	149
70543	0.1733	53
70551	0.1630	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	88.28	gold quality
ileal mucosa	UBERON:0000331	87.19	gold quality
spleen	UBERON:0002106	86.32	gold quality
oviduct epithelium	UBERON:0004804	86.24	gold quality
secondary oocyte	CL:0000655	86.13	gold quality
oocyte	CL:0000023	86.00	gold quality
ventricular zone	UBERON:0003053	85.97	gold quality
omental fat pad	UBERON:0010414	83.17	gold quality
peritoneum	UBERON:0002358	83.10	gold quality
corpus epididymis	UBERON:0004359	82.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.88	gold quality
colonic epithelium	UBERON:0000397	82.38	gold quality
vermiform appendix	UBERON:0001154	82.29	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.06	gold quality
lower esophagus mucosa	UBERON:0035834	81.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.04	gold quality
spinal cord	UBERON:0002240	80.96	gold quality
caput epididymis	UBERON:0004358	80.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.49	gold quality
gall bladder	UBERON:0002110	80.34	gold quality
upper lobe of left lung	UBERON:0008952	80.31	gold quality
calcaneal tendon	UBERON:0003701	80.13	gold quality
upper lobe of lung	UBERON:0008948	80.02	gold quality
tibialis anterior	UBERON:0001385	79.77	gold quality
lymph node	UBERON:0000029	79.62	gold quality
fallopian tube	UBERON:0003889	79.12	gold quality
thymus	UBERON:0002370	79.03	gold quality
lung	UBERON:0002048	78.93	gold quality
skin of leg	UBERON:0001511	78.80	gold quality
right lung	UBERON:0002167	78.64	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	25.17
E-HCAD-35	yes	20.65
E-ANND-3	yes	19.70
E-MTAB-11268	no	943.91
E-MTAB-6379	no	116.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

134 targeting PLEKHG1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-144-3P	99.94	73.98	2698
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

Literature-anchored findings (GeneRIF, showing 2)

• PLEKHG1 rs9478812 variant substantially increases risk of preeclampsia. (PMID:29967039)
• Genetic variation in PLEKHG1 is associated with white matter hyperintensities and ischemic stroke, most strongly with the small vessel subtype, suggesting it acts by promoting small vessel arteriopathy. (PMID:30659137)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000111585
mus_musculus	Plekhg1	ENSMUSG00000040624
rattus_norvegicus	Plekhg1	ENSRNOG00000016011

Paralogs (22): TRIO (ENSG00000038382), MCF2L2 (ENSG00000053524), PLEKHG2 (ENSG00000090924), MCF2 (ENSG00000101977), ARHGEF7 (ENSG00000102606), MCF2L (ENSG00000126217), ARHGEF6 (ENSG00000129675), ARHGEF9 (ENSG00000131089), VAV3 (ENSG00000134215), VAV1 (ENSG00000141968), TIAM2 (ENSG00000146426), KIAA1755 (ENSG00000149633), PLEKHG4B (ENSG00000153404), TIAM1 (ENSG00000156299), KALRN (ENSG00000160145), VAV2 (ENSG00000160293), ARHGEF40 (ENSG00000165801), SPATA13 (ENSG00000182957), SESTD1 (ENSG00000187231), PLEKHN1 (ENSG00000187583), PLEKHG4 (ENSG00000196155), ARHGEF25 (ENSG00000240771)

Protein

Protein identifiers

Pleckstrin homology domain-containing family G member 1 — Q9ULL1 (reviewed: Q9ULL1)

All UniProt accessions (5): A0A2R8Y2B1, Q9ULL1, H0YD71, Q5JYA6, Q5T1F3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) for RAC1 and CDC42.

RefSeq proteins (10): NP_001025055, NP_001316727, NP_001316728, NP_001316729, NP_001316730, NP_001316731, NP_001316732, NP_001316733, NP_001316734, NP_001316735 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR043324	PH_PLEKHG1_G2_G3	Domain
IPR055251	SOS1_NGEF_PH	Domain

Pfam: PF00621, PF22697

UniProt features (25 total): region of interest 8, compositionally biased region 8, sequence variant 4, domain 2, chain 1, modified residue 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULL1-F1	50.77	0.19

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 (1): 1192

Mutagenesis-validated functional residues (1):

Position	Phenotype
258	abolishes gef activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 138 (showing top): MODULE_255, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_317, GOMF_GTPASE_BINDING, chr6q25, KOYAMA_SEMA3B_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, VANTVEER_BREAST_CANCER_ESR1_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, MODULE_69, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, MIKKELSEN_ES_ICP_WITH_H3K4ME3, FEVR_CTNNB1_TARGETS_UP

GO Biological Process (1): regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), small GTPase binding (GO:0031267)

GO Cellular Component (2): nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
GTPase binding	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

886 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHG1	TEX51	A0A1B0GUA7	571
PLEKHG1	IYD	Q6PHW0	564
PLEKHG1	BCAS3	Q9H6U6	509
PLEKHG1	PLEK2	Q9NYT0	493
PLEKHG1	PLEK	P08567	491
PLEKHG1	OXNAD1	Q96HP4	472
PLEKHG1	DCPH1	Q9H993	472
PLEKHG1	TTLL2	Q9BWV7	467
PLEKHG1	STK32A	Q8WU08	455
PLEKHG1	COX7B2	Q8TF08	453
PLEKHG1	CCDC170	Q8IYT3	447
PLEKHG1	ZBTB2	Q8N680	447
PLEKHG1	MTHFD1L	Q6UB35	446
PLEKHG1	GPR149	Q86SP6	441
PLEKHG1	DYNC1LI2	O43237	438

IntAct

30 interactions, top by confidence:

A	B	Type	Score
LLGL2	RBBP6	psi-mi:“MI:0914”(association)	0.350
TUBGCP5	DNAJC6	psi-mi:“MI:0914”(association)	0.350
CHST15	SLC43A3	psi-mi:“MI:0914”(association)	0.350
MYH13	C1orf226	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ODF2	DDX3X	psi-mi:“MI:2364”(proximity)	0.270
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP89	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
SSX2IP	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
OFD1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP162	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
RPGRIP1L	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
SSX2IP	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
NINL	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
HOOK2	SEC16A	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270
ATG16L1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
MAP1LC3B	FAM83G	psi-mi:“MI:2364”(proximity)	0.270
MAP1LC3C	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
RB1CC1	TRAPPC13	psi-mi:“MI:2364”(proximity)	0.270
ANKRD28	TBKBP1	psi-mi:“MI:2364”(proximity)	0.270
Lats2	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
PLEKHG1		psi-mi:“MI:0915”(physical association)	0.000
	PLEKHG1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (75): PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Affinity Capture-MS), PLEKHG1 (Affinity Capture-MS), PLEKHG1 (Affinity Capture-MS), PLEKHG1 (Affinity Capture-MS), PLEKHG1 (Proximity Label-MS), PLEKHG1 (Proximity Label-MS)

ESM2 similar proteins: A0A0G2JUG7, A1L390, E9Q0S6, O08774, O14924, O15085, O43182, O54834, O54960, O60307, O75052, P57095, Q13009, Q3U1V8, Q3U214, Q3UHC7, Q4VAC9, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q5VWQ8, Q60610, Q64512, Q6AX33, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6ZMN7, Q76G19, Q76LL6, Q76M68, Q7T2V3, Q810W7, Q8CGE9, Q8IX03, Q8R0S2, Q8R4H2, Q8WYP3

Diamond homologs: A1L390, F1M0Z1, O43307, O75962, P91620, P91621, Q0KL02, Q13009, Q1ZXH8, Q3UTH8, Q4VAC9, Q58DL7, Q58EX7, Q5DU57, Q5RDK0, Q60610, Q6KAU7, Q6P720, Q6ZPF3, Q7TNR9, Q96N96, Q9H7P9, Q9NR80, Q9QX73, Q9ULL1, A0JNJ1, A4RF61, A6H8I2, A6NI72, A8MVU1, O15068, O43125, O75886, O89100, O93436, P07751, P10569, P14598, P16086, P16546

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PIP3	up-regulates	PLEKHG1	“chemical activation”
PLEKHG1	“up-regulates activity”	CDC42	“guanine nucleotide exchange factor”
FYN	“up-regulates activity”	PLEKHG1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 39 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
Anchoring of the basal body to the plasma membrane	8	34.8×	7e-09
Recruitment of mitotic centrosome proteins and complexes	6	31.4×	2e-06
Loss of Nlp from mitotic centrosomes	5	30.5×	2e-05
Loss of proteins required for interphase microtubule organization from the centrosome	5	30.5×	2e-05
AURKA Activation by TPX2	5	29.3×	2e-05
Recruitment of NuMA to mitotic centrosomes	6	26.9×	4e-06
Regulation of PLK1 Activity at G2/M Transition	5	24.4×	4e-05
Membrane Trafficking	6	8.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	184
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3924 predictions. Top by Δscore:

Variant	Effect	Δscore
6:150600016:GG:G	donor_gain	1.0000
6:150600017:GG:G	donor_gain	1.0000
6:150650787:G:GG	donor_gain	1.0000
6:150800866:GCAT:G	donor_gain	1.0000
6:150800870:G:GG	donor_gain	1.0000
6:150804607:AAG:A	acceptor_gain	1.0000
6:150804608:A:G	acceptor_gain	1.0000
6:150804609:G:GC	acceptor_loss	1.0000
6:150804609:G:GG	acceptor_gain	1.0000
6:150804739:CAG:C	donor_loss	1.0000
6:150804740:AGGT:A	donor_loss	1.0000
6:150804742:GTGAG:G	donor_loss	1.0000
6:150809286:TGG:T	donor_loss	1.0000
6:150809288:G:GA	donor_loss	1.0000
6:150809289:T:A	donor_loss	1.0000
6:150809376:TCTA:T	acceptor_loss	1.0000
6:150809377:CTAGT:C	acceptor_loss	1.0000
6:150809379:A:AG	acceptor_gain	1.0000
6:150809379:AGT:A	acceptor_gain	1.0000
6:150809379:AGTGT:A	acceptor_gain	1.0000
6:150809380:G:GA	acceptor_gain	1.0000
6:150809380:G:T	acceptor_loss	1.0000
6:150809380:GT:G	acceptor_gain	1.0000
6:150809380:GTG:G	acceptor_gain	1.0000
6:150809380:GTGT:G	acceptor_gain	1.0000
6:150809380:GTGTG:G	acceptor_gain	1.0000
6:150809644:GCA:G	acceptor_loss	1.0000
6:150809646:A:T	acceptor_loss	1.0000
6:150809730:C:G	donor_gain	1.0000
6:150809730:CTAAG:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002071 (6:150729140 G>A), RS1000030876 (6:150708392 A>G), RS1000066190 (6:150610018 C>A), RS1000098932 (6:150651795 G>A), RS1000106163 (6:150696344 G>A), RS1000115567 (6:150816810 G>A), RS1000117686 (6:150825822 C>A), RS1000141607 (6:150650953 A>C), RS1000154168 (6:150692997 G>A,C), RS1000177060 (6:150752495 C>T), RS1000179344 (6:150664259 T>C), RS1000192867 (6:150661593 A>G), RS1000193152 (6:150834617 G>A,C), RS1000195892 (6:150743716 C>A,T), RS1000204448 (6:150834405 G>A,C)

Disease associations

OMIM: gene MIM:620134 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
periventricular leukomalacia	Limited	Autosomal dominant

Mondo (2): prostate cancer (MONDO:0008315), periventricular leukomalacia (MONDO:0015742)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

53 associations (top):

Study	Trait	p-value
GCST000320_6	Panic disorder	5.000000e-07
GCST001471_5	Alcohol and nicotine co-dependence	1.000000e-06
GCST001762_119	Obesity-related traits	3.000000e-06
GCST001762_213	Obesity-related traits	3.000000e-06
GCST001762_30	Obesity-related traits	2.000000e-06
GCST001915_17	Alzheimer’s disease (cognitive decline)	2.000000e-06
GCST002143_10	Blood pressure	2.000000e-11
GCST002143_9	Blood pressure	5.000000e-08
GCST002187_6	Systolic blood pressure in sickle cell anemia	8.000000e-06
GCST002936_10	Cadmium levels	7.000000e-06
GCST004250_2	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	6.000000e-06
GCST004385_2	Systolic blood pressure	6.000000e-09
GCST004386_5	Diastolic blood pressure	3.000000e-07
GCST004388_14	Blood pressure traits (multi-trait analysis)	5.000000e-07
GCST004776_48	Systolic blood pressure	9.000000e-07
GCST004777_14	Diastolic blood pressure	1.000000e-10
GCST005195_116	Coronary artery disease	6.000000e-09
GCST005196_136	Coronary artery disease	1.000000e-09
GCST006166_3	Diastolic blood pressure x alcohol consumption interaction (2df test)	4.000000e-28
GCST006167_4	Mean arterial pressure x alcohol consumption interaction (2df test)	2.000000e-16
GCST006169_35	Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)	4.000000e-12
GCST006170_1	Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)	1.000000e-10
GCST006172_21	Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test)	9.000000e-14
GCST006187_19	Diastolic blood pressure (cigarette smoking interaction)	1.000000e-28
GCST006188_34	Systolic blood pressure (cigarette smoking interaction)	3.000000e-22
GCST006258_34	Diastolic blood pressure	2.000000e-09
GCST006259_55	Systolic blood pressure	4.000000e-07
GCST006434_7	Systolic blood pressure x alcohol consumption interaction (2df test)	5.000000e-22
GCST007094_57	Diastolic blood pressure	1.000000e-18
GCST007095_128	Systolic blood pressure	6.000000e-06

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0003940	physical activity
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0007965	response to combination chemotherapy
EFO:0005763	pulse pressure measurement
EFO:0004329	alcohol drinking
EFO:0006340	mean arterial pressure
EFO:0006527	smoking status measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004343	waist-hip ratio
EFO:0004348	hematocrit
EFO:0009188	Red cell distribution width

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D007969	Leukomalacia, Periventricular	C10.228.140.300.700; C10.228.140.461.550; C14.907.253.612; C16.614.521.450
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

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
Valproic Acid	increases methylation, affects expression, increases expression	4
methylmercuric chloride	decreases expression, increases expression	2
sodium arsenite	affects expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
triphenyl phosphate	affects expression	1
sodium arsenate	increases abundance, decreases expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
cylindrospermopsin	increases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
nutlin 3	increases expression	1
dorsomorphin	decreases expression, increases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
gardiquimod	increases expression, decreases reaction	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Demecolcine	increases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Formaldehyde	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120588	PHASE4	COMPLETED	Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm Birth
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer