FGD6

Summary

FGD6 (FYVE, RhoGEF and PH domain containing 6, HGNC:21740) is a protein-coding gene on chromosome 12q22, encoding FYVE, RhoGEF and PH domain-containing protein 6 (Q6ZV73). May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP.

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be active in cytoplasm.

Source: NCBI Gene 55785 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 200 total
• MANE Select transcript: NM_018351

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21740
Approved symbol	FGD6
Name	FYVE, RhoGEF and PH domain containing 6
Location	12q22
Locus type	gene with protein product
Status	Approved
Aliases	ZFYVE24, FLJ11183
Ensembl gene	ENSG00000180263
Ensembl biotype	protein_coding
OMIM	613520
Entrez	55785

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000343958, ENST00000451107, ENST00000546711, ENST00000548069, ENST00000549499, ENST00000550368, ENST00000551521, ENST00000860146

RefSeq mRNA: 1 — MANE Select: NM_018351 NM_018351

CCDS: CCDS31878

Canonical transcript exons

ENST00000343958 — 21 exons

Exon	Start	End
ENSE00001305695	95076749	95081556
ENSE00001364564	95208843	95211267
ENSE00003464915	95152926	95152993
ENSE00003465570	95141388	95141539
ENSE00003471983	95108503	95108561
ENSE00003475952	95107563	95107631
ENSE00003485789	95113651	95113701
ENSE00003505574	95106954	95107037
ENSE00003513381	95134739	95134826
ENSE00003523223	95092699	95092845
ENSE00003533363	95172600	95172744
ENSE00003542536	95152811	95152841
ENSE00003596593	95105007	95105086
ENSE00003603069	95108348	95108419
ENSE00003604930	95089569	95089696
ENSE00003615700	95137522	95137678
ENSE00003626066	95084498	95084646
ENSE00003654002	95094592	95094694
ENSE00003654989	95085780	95085908
ENSE00003788265	95091707	95091809
ENSE00003848126	95217225	95217467

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 92.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7802 / max 168.4856, expressed in 1634 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132727	5.2543	1465
132728	3.2762	1241
132723	0.1241	52
132722	0.0940	35
132724	0.0316	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	92.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.14	gold quality
secondary oocyte	CL:0000655	85.82	gold quality
oocyte	CL:0000023	85.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.19	gold quality
sural nerve	UBERON:0015488	81.09	gold quality
colonic epithelium	UBERON:0000397	80.61	gold quality
monocyte	CL:0000576	79.66	gold quality
mononuclear cell	CL:0000842	79.39	gold quality
leukocyte	CL:0000738	78.77	gold quality
skin of abdomen	UBERON:0001416	77.27	gold quality
tonsil	UBERON:0002372	76.97	gold quality
calcaneal tendon	UBERON:0003701	76.37	gold quality
skin of leg	UBERON:0001511	75.71	gold quality
zone of skin	UBERON:0000014	75.04	gold quality
islet of Langerhans	UBERON:0000006	74.66	gold quality
adrenal tissue	UBERON:0018303	74.63	gold quality
gall bladder	UBERON:0002110	74.62	gold quality
muscle layer of sigmoid colon	UBERON:0035805	74.56	gold quality
rectum	UBERON:0001052	74.24	gold quality
right adrenal gland cortex	UBERON:0035827	73.72	gold quality
visceral pleura	UBERON:0002401	73.62	gold quality
left adrenal gland	UBERON:0001234	73.58	gold quality
left adrenal gland cortex	UBERON:0035825	73.31	gold quality
cortical plate	UBERON:0005343	73.10	gold quality
ganglionic eminence	UBERON:0004023	72.99	gold quality
stromal cell of endometrium	CL:0002255	72.91	gold quality
adrenal gland	UBERON:0002369	72.86	gold quality
pancreas	UBERON:0001264	72.79	gold quality
body of pancreas	UBERON:0001150	72.70	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.73
E-ENAD-17	no	84.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

218 targeting FGD6, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4476	100.00	68.18	2030
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4803	99.98	71.99	3117

Literature-anchored findings (GeneRIF, showing 1)

• data suggest that oxidized phospholipids and FGD6-Arg329 might act synergistically to increase susceptibility to PCV (PMID:27089177)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fgd6	ENSDARG00000045528
mus_musculus	Fgd6	ENSMUSG00000020021
rattus_norvegicus	Fgd6	ENSRNOG00000054515
caenorhabditis_elegans		WBGENE00001366
caenorhabditis_elegans		WBGENE00001490

Paralogs (10): FARP2 (ENSG00000006607), FGD1 (ENSG00000102302), FGD3 (ENSG00000127084), ARHGEF39 (ENSG00000137135), FGD4 (ENSG00000139132), FGD2 (ENSG00000146192), FARP1 (ENSG00000152767), FGD5 (ENSG00000154783), FRMD7 (ENSG00000165694), ECT2L (ENSG00000203734)

Protein

Protein identifiers

FYVE, RhoGEF and PH domain-containing protein 6 — Q6ZV73 (reviewed: Q6ZV73)

Alternative names: Zinc finger FYVE domain-containing protein 24

All UniProt accessions (5): Q6ZV73, F8VQX5, F8VWT6, F8VY01, H0YI21

UniProt curated annotations — full annotation on UniProt →

Function. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape.

Subcellular location. Cytoplasm. Cytoskeleton.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZV73-1	1	yes
Q6ZV73-2	2

RefSeq proteins (1): NP_060821* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR000306	Znf_FYVE	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR037743	FGD6_N_PH	Domain
IPR051092	FYVE_RhoGEF_PH	Family

Pfam: PF00169, PF00621, PF01363

UniProt features (43 total): binding site 8, sequence conflict 8, modified residue 7, compositionally biased region 6, region of interest 5, domain 3, splice variant 2, sequence variant 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9JB3	X-RAY DIFFRACTION	1.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZV73-F1	54.72	0.28

Functional residue map

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

Ligand- & substrate-binding residues (8): 1228; 1231; 1244; 1247; 1252; 1255; 1273; 1276

Post-translational modifications (7): 231, 515, 554, 605, 692, 721, 1197

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 241 (showing top): GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MODULE_255, GOBP_REGULATION_OF_GTPASE_ACTIVITY, MODULE_317, GOCC_RUFFLE, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, WOO_LIVER_CANCER_RECURRENCE_UP, GROSS_HYPOXIA_VIA_ELK3_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, DOUGLAS_BMI1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, PRAMOONJAGO_SOX4_TARGETS_UP

GO Biological Process (5): cytoskeleton organization (GO:0007010), regulation of cell shape (GO:0008360), actin cytoskeleton organization (GO:0030036), regulation of GTPase activity (GO:0043087), filopodium assembly (GO:0046847)

GO Molecular Function (5): guanyl-nucleotide exchange factor activity (GO:0005085), zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): ruffle (GO:0001726), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), lamellipodium (GO:0030027)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell leading edge	2
plasma membrane bounded cell projection	2
organelle organization	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cytoskeleton organization	1
actin filament-based process	1
GTPase activity	1
regulation of hydrolase activity	1
plasma membrane bounded cell projection assembly	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
transition metal ion binding	1
GTPase binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

836 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGD6	USP16	Q9Y5T5	718
FGD6	SLC7A5	Q01650	713
FGD6	ASNS	P08184	710
FGD6	TRIB3	Q96RU7	668
FGD6	SLC3A2	P08195	648
FGD6	CDC42	P21181	555
FGD6	TMEM14A	Q9Y6G1	549
FGD6	METTL25	Q8N6Q8	540
FGD6	PPM1N	Q8N819	520
FGD6	GIT1	Q9Y2X7	499
FGD6	GCSAM	Q8N6F7	484
FGD6	VEZT	Q9HBM0	464
FGD6	RABIF	P47224	459
FGD6	GGT5	P36269	437
FGD6	PKN3	Q6P5Z2	432

IntAct

42 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
FGD6	YWHAH	psi-mi:“MI:0915”(physical association)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
FGD6	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
FGD6	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
PB2	SEC15L3	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
Arhgap33	MAP3K7	psi-mi:“MI:0914”(association)	0.350
SFN	ANKRD17	psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
DBNL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
HRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (65): FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), FGD6 (Affinity Capture-MS), KIF13B (Affinity Capture-MS)

ESM2 similar proteins: A0A096MK47, A2A995, A2ALU4, A4IGN8, A6NGG8, A6NMK8, B1AXH1, B2RQL2, D3ZMK9, D3ZUI5, E9Q309, O14513, O60303, O75128, Q0P5X5, Q14B48, Q1W617, Q2M1Z3, Q3UMF0, Q499V8, Q569L8, Q571I4, Q5BQN8, Q5DTX6, Q5HYW2, Q5T1N1, Q5VWT5, Q5ZJ26, Q62394, Q68DA7, Q69ZL1, Q6GQV1, Q6INC4, Q6PAC4, Q6ZRS4, Q6ZV73, Q6ZVD7, Q7TP36, Q7TS75, Q86YV5

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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
Activation of BAD and translocation to mitochondria	7	205.0×	2e-13
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	180.9×	2e-13
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	180.9×	2e-13
Activation of BH3-only proteins	7	133.7×	2e-12
RHO GTPases activate PKNs	7	85.4×	5e-11
Intrinsic Pathway for Apoptosis	7	78.8×	9e-11
FOXO-mediated transcription	5	64.6×	2e-07
SARS-CoV-1-host interactions	7	47.3×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	73.3×	4e-08
intracellular protein localization	8	27.9×	4e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	165
Likely benign	14
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

4064 predictions. Top by Δscore:

Variant	Effect	Δscore
12:95084492:ACTT:A	donor_loss	1.0000
12:95084493:CTTA:C	donor_gain	1.0000
12:95084494:TTAC:T	donor_loss	1.0000
12:95084495:TA:T	donor_loss	1.0000
12:95084496:A:AC	donor_gain	1.0000
12:95084496:A:T	donor_loss	1.0000
12:95084497:C:CA	donor_gain	1.0000
12:95084497:CT:C	donor_gain	1.0000
12:95084497:CTT:C	donor_gain	1.0000
12:95084652:T:C	acceptor_gain	1.0000
12:95084660:A:C	acceptor_gain	1.0000
12:95089562:CACT:C	donor_loss	1.0000
12:95089563:ACTT:A	donor_loss	1.0000
12:95089564:CTTA:C	donor_loss	1.0000
12:95089565:TTAC:T	donor_loss	1.0000
12:95089566:TACTT:T	donor_loss	1.0000
12:95089567:A:AC	donor_gain	1.0000
12:95089567:ACTT:A	donor_gain	1.0000
12:95089568:C:CG	donor_gain	1.0000
12:95089568:CTT:C	donor_gain	1.0000
12:95089568:CTTC:C	donor_gain	1.0000
12:95089568:CTTCT:C	donor_gain	1.0000
12:95091579:A:AC	donor_gain	1.0000
12:95091580:C:CC	donor_gain	1.0000
12:95092634:T:TA	donor_gain	1.0000
12:95092702:T:A	donor_gain	1.0000
12:95092841:TCTGC:T	acceptor_loss	1.0000
12:95092842:CTGC:C	acceptor_gain	1.0000
12:95092842:CTGCC:C	acceptor_loss	1.0000
12:95092843:TGC:T	acceptor_gain	1.0000

AlphaMissense

9522 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:95081555:A:G	W1420R	1.000
12:95081555:A:T	W1420R	1.000
12:95084636:G:T	A1373D	1.000
12:95085802:A:G	L1362P	1.000
12:95091729:A:C	C1276W	1.000
12:95091731:A:G	C1276R	1.000
12:95091740:A:G	C1273R	1.000
12:95091792:A:C	C1255W	1.000
12:95091794:A:G	C1255R	1.000
12:95091801:G:C	C1252W	1.000
12:95091802:C:T	C1252Y	1.000
12:95091803:A:G	C1252R	1.000
12:95092714:G:C	C1244W	1.000
12:95092715:C:G	C1244S	1.000
12:95092715:C:T	C1244Y	1.000
12:95092716:A:G	C1244R	1.000
12:95092716:A:T	C1244S	1.000
12:95092726:T:A	R1240S	1.000
12:95092726:T:G	R1240S	1.000
12:95092727:C:G	R1240T	1.000
12:95092741:G:C	F1235L	1.000
12:95092741:G:T	F1235L	1.000
12:95092742:A:G	F1235S	1.000
12:95092743:A:G	F1235L	1.000
12:95092753:G:C	C1231W	1.000
12:95092754:C:T	C1231Y	1.000
12:95092755:A:G	C1231R	1.000
12:95092762:A:C	C1228W	1.000
12:95092763:C:G	C1228S	1.000
12:95092763:C:T	C1228Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000009001 (12:95139344 G>A), RS1000009785 (12:95185148 A>G), RS1000035307 (12:95127331 G>A), RS1000056515 (12:95087746 C>G), RS1000067534 (12:95216486 G>A), RS1000079517 (12:95095586 G>A,C), RS1000098318 (12:95216196 A>G), RS1000099634 (12:95156506 G>A), RS1000103516 (12:95139058 A>G), RS1000157421 (12:95114545 A>G), RS1000175153 (12:95100960 T>C,G), RS1000217488 (12:95080329 T>C), RS1000226055 (12:95101243 A>G), RS1000288247 (12:95152454 T>C), RS1000313058 (12:95114318 G>A,C)

Disease associations

OMIM: gene MIM:613520 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST002006_3	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)	2.000000e-07
GCST002766_4	Exudative age-related macular degeneration	3.000000e-08
GCST004185_3	Lung function (FEV1/FVC)	9.000000e-18
GCST005194_101	Coronary artery disease	7.000000e-12
GCST005195_55	Coronary artery disease	1.000000e-12
GCST006629_38	Pulse pressure	9.000000e-14
GCST007431_116	Lung function (FEV1/FVC)	2.000000e-21
GCST007692_30	Chronic obstructive pulmonary disease	2.000000e-07
GCST007692_31	Chronic obstructive pulmonary disease	2.000000e-08
GCST008162_21	Hip circumference	3.000000e-06
GCST010703_206	Brain morphology (MOSTest)	1.000000e-11
GCST010866_96	Coronary artery disease	4.000000e-24
GCST010867_7	Coronary artery disease	6.000000e-13
GCST011020_6	Intracranial aneurysm	3.000000e-12
GCST011021_11	Intracranial aneurysm	5.000000e-14
GCST011100_16	Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis)	8.000000e-09
GCST011947_34	White matter hyperintensity volume	4.000000e-06
GCST011950_34	White matter hyperintensity volume (adjusted for hypertension)	5.000000e-06
GCST90002401_48	Platelet distribution width	9.000000e-10
GCST90002402_143	Platelet count	5.000000e-11

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0005763	pulse pressure measurement
EFO:0004346	neuroimaging measurement
EFO:0007796	parental longevity
EFO:0009762	healthspan
EFO:0005665	white matter hyperintensity measurement
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Aflatoxin B1	increases expression, increases methylation	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tretinoin	increases expression	2
FR900359	decreases phosphorylation	1
daidzein	affects cotreatment, decreases expression	1
trichostatin A	affects expression	1
daidzin	affects cotreatment, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
vanadyl sulfate	increases expression	1
genistin	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
glycitein	decreases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
glycitin	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dimethylarsinous acid	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1

Clinical trials (associated diseases)

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