FRMD6

Summary

FRMD6 (FERM domain containing 6, HGNC:19839) is a protein-coding gene on chromosome 14q22.1, encoding FERM domain-containing protein 6 (Q96NE9).

Predicted to be involved in positive regulation of hippo signaling. Predicted to act upstream of or within apical constriction; protein localization; and regulation of actin filament-based process. Located in cytoplasm and plasma membrane.

Source: NCBI Gene 122786 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_001267046

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19839
Approved symbol	FRMD6
Name	FERM domain containing 6
Location	14q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC17921, willin, EX1
Ensembl gene	ENSG00000139926
Ensembl biotype	protein_coding
OMIM	614555
Entrez	122786

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 31 protein_coding, 6 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000344768, ENST00000356218, ENST00000395718, ENST00000553556, ENST00000554167, ENST00000554495, ENST00000554745, ENST00000554778, ENST00000555197, ENST00000555703, ENST00000555936, ENST00000555952, ENST00000556137, ENST00000557001, ENST00000557103, ENST00000557183, ENST00000557405, ENST00000557522, ENST00000854278, ENST00000854279, ENST00000854280, ENST00000854281, ENST00000854282, ENST00000854283, ENST00000854284, ENST00000854285, ENST00000924040, ENST00000924041, ENST00000924042, ENST00000924043, ENST00000924044, ENST00000924045, ENST00000924046, ENST00000924047, ENST00000924048, ENST00000951823, ENST00000951824, ENST00000951825, ENST00000951826, ENST00000951827, ENST00000951828

RefSeq mRNA: 4 — MANE Select: NM_001267046 NM_001042481, NM_001267046, NM_001267047, NM_152330

CCDS: CCDS58318, CCDS58319, CCDS9704

Canonical transcript exons

ENST00000344768 — 14 exons

Exon	Start	End
ENSE00000940792	51704749	51704935
ENSE00001001591	51702512	51702588
ENSE00001001594	51715325	51715499
ENSE00001093307	51698142	51698232
ENSE00001093315	51689691	51689935
ENSE00001915087	51651910	51651996
ENSE00003477649	51708078	51708233
ENSE00003500366	51721949	51722080
ENSE00003554445	51712483	51712551
ENSE00003595226	51711531	51711596
ENSE00003597771	51725779	51725870
ENSE00003610262	51701056	51701159
ENSE00003685614	51720055	51720390
ENSE00003900837	51727745	51730727

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 99.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.3776 / max 1315.2651, expressed in 1523 samples.

FANTOM5 promoters (25 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139546	30.9330	1478
139547	2.8249	799
139540	2.3442	387
139548	2.2583	1078
139528	0.9707	91
207216	0.6715	476
139527	0.6259	85
139541	0.5012	200
139523	0.2255	62
139539	0.2101	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.04	gold quality
cartilage tissue	UBERON:0002418	99.00	gold quality
tibia	UBERON:0000979	98.55	gold quality
cauda epididymis	UBERON:0004360	98.23	gold quality
stromal cell of endometrium	CL:0002255	97.98	gold quality
esophagus squamous epithelium	UBERON:0006920	97.82	gold quality
epithelium of mammary gland	UBERON:0003244	97.64	gold quality
mammary duct	UBERON:0001765	97.63	gold quality
oral cavity	UBERON:0000167	97.39	gold quality
upper leg skin	UBERON:0004262	97.24	gold quality
skin of hip	UBERON:0001554	96.92	gold quality
gingiva	UBERON:0001828	96.64	gold quality
gingival epithelium	UBERON:0001949	96.60	gold quality
lower esophagus mucosa	UBERON:0035834	96.40	gold quality
mammalian vulva	UBERON:0000997	95.94	gold quality
seminal vesicle	UBERON:0000998	95.86	gold quality
smooth muscle tissue	UBERON:0001135	95.56	gold quality
epithelial cell of pancreas	CL:0000083	95.51	gold quality
body of uterus	UBERON:0009853	95.40	gold quality
parietal pleura	UBERON:0002400	94.95	gold quality
myometrium	UBERON:0001296	94.76	gold quality
mammary gland	UBERON:0001911	94.56	gold quality
thoracic mammary gland	UBERON:0005200	94.55	gold quality
esophagus mucosa	UBERON:0002469	94.46	gold quality
pharyngeal mucosa	UBERON:0000355	94.33	gold quality
penis	UBERON:0000989	93.86	gold quality
urinary bladder	UBERON:0001255	93.60	gold quality
sural nerve	UBERON:0015488	93.38	gold quality
gall bladder	UBERON:0002110	93.26	gold quality
dorsal root ganglion	UBERON:0000044	93.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-2	yes	1221.01
E-GEOD-86618	yes	512.91
E-CURD-112	yes	501.05
E-ANND-3	yes	10.11
E-GEOD-83139	yes	6.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

173 targeting FRMD6, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
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-3924	100.00	72.09	2394
HSA-MIR-513A-5P	100.00	69.77	2465
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-1277-5P	100.00	73.95	5056
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-27A-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 11)

• Results describe a new FERM domain-containing protein called Willin. (PMID:16137681)
• in mammalian cells willin influences Hippo signaling activity by activating the core Hippo pathway kinase cassette (PMID:21666719)
• Human homolog of Drosophila expanded, hEx, functions as a putative tumor suppressor in human cancer cell lines independently of the Hippo pathway (PMID:21785462)
• Genome-wide and gene-based association implicates FRMD6 in Alzheimer disease. (PMID:22190428)
• a novel function of FRMD6 in inhibiting human GBM growth and progression and uncover a novel mechanism by which FRMD6 exerts its anti-GBM activity. (PMID:27661120)
• we report for the first time that CRB3 acts as an upstream regulator of the Hippo pathway to regulate contact inhibition by recruiting other Hippo molecules, such as Kibra and/or FRMD6, in mammary epithelial cells. (PMID:28079891)
• Results indicate that metastasis associated 1 family member 2 (MTA2) represses a cohort of genes including FERM domain containing 6 protein (FRMD6) that are critically involved in the growth and mobility of hepatocellular carcinoma (HCC). (PMID:31128910)
• concluded that lncRNA FRMD6-AS2 repressed uterine corpus endometrial carcinoma, at least in part, by increasing FRMD6 (PMID:31917993)
• FRMD6 has tumor suppressor functions in prostate cancer. (PMID:33249427)
• CircRNA VPRBP inhibits tumorigenicity of cervical cancer via miR-93-5p/FRMD6 axis. (PMID:35501594)
• High-tissue FRMD6 expression predicts better outcomes among colorectal cancer patients. (PMID:38385211)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	frmd6	ENSDARG00000002332
mus_musculus	Frmd6	ENSMUSG00000048285
rattus_norvegicus	Frmd6	ENSRNOG00000007329
drosophila_melanogaster	yrt	FBGN0004049
drosophila_melanogaster	cora	FBGN0010434
drosophila_melanogaster	Frmd5	FBGN0032225
caenorhabditis_elegans	erm-1	WBGENE00001333
caenorhabditis_elegans	frm-1	WBGENE00001488
caenorhabditis_elegans		WBGENE00001489
caenorhabditis_elegans	frm-4	WBGENE00001491

Paralogs (10): MYLIP (ENSG00000007944), EPB41L2 (ENSG00000079819), EPB41L3 (ENSG00000082397), EPB41L1 (ENSG00000088367), EPB41L4B (ENSG00000095203), EPB41L5 (ENSG00000115109), EPB41L4A (ENSG00000129595), EPB41 (ENSG00000159023), FRMD5 (ENSG00000171877), FRMD3 (ENSG00000172159)

Protein

Protein identifiers

FERM domain-containing protein 6 — Q96NE9 (reviewed: Q96NE9)

Alternative names: Willin

All UniProt accessions (5): Q96NE9, G3V2L4, G3V517, H0YJ19, H0YJC1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cell membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96NE9-1	1	yes
Q96NE9-2	2
Q96NE9-3	3

RefSeq proteins (4): NP_001035946, NP_001253975, NP_001253976, NP_689543 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR018979	FERM_N	Domain
IPR018980	FERM_PH-like_C	Domain
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily
IPR041781	FRMD6-FERM_C	Domain
IPR047145	FRMD6-like	Family

Pfam: PF00373, PF09379, PF09380

UniProt features (14 total): modified residue 5, splice variant 2, sequence conflict 2, compositionally biased region 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96NE9-F1	67.38	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 (5): 522, 523, 525, 542, 544

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 324 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_HIPPO_SIGNALING, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, ROZANOV_MMP14_TARGETS_UP, BRN2_01, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN

GO Biological Process (4): apical constriction (GO:0003383), intracellular protein localization (GO:0008104), regulation of actin filament-based process (GO:0032970), positive regulation of hippo signaling (GO:0035332)

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

GO Cellular Component (6): cytoplasm (GO:0005737), plasma membrane (GO:0005886), apical junction complex (GO:0043296), cytoplasmic side of apical plasma membrane (GO:0098592), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
epithelial cell morphogenesis	1
actin-mediated cell contraction	1
macromolecule localization	1
actin filament-based process	1
regulation of cellular process	1
hippo signaling	1
regulation of hippo signaling	1
positive regulation of intracellular signal transduction	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
cell-cell junction	1
cytoplasmic side of plasma membrane	1
apical plasma membrane	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRMD6	NF2	P35240	900
FRMD6	MCOLN1	Q9GZU1	826
FRMD6	WWC1	Q8IX03	825
FRMD6	MCOLN3	Q8TDD5	658
FRMD6	MCOLN2	Q8IZK6	649
FRMD6	SAV1	Q9H4B6	605
FRMD6	CRB2	Q5IJ48	589
FRMD6	RASSF8	Q8NHQ8	569
FRMD6	LATS2	Q9NRM7	559
FRMD6	LATS1	O95835	544
FRMD6	CRB1	P82279	540
FRMD6	YAP1	P46937	537
FRMD6	WWTR1	Q9GZV5	521
FRMD6	AMOTL2	Q9Y2J4	505
FRMD6	NFASC	O94856	480

IntAct

108 interactions, top by confidence:

A	B	Type	Score
YWHAG	FRMD6	psi-mi:“MI:0915”(physical association)	0.870
FRMD6	YWHAB	psi-mi:“MI:0915”(physical association)	0.850
FRMD6	YWHAQ	psi-mi:“MI:0914”(association)	0.770
FRMD6	MLH1	psi-mi:“MI:0915”(physical association)	0.670
MLH1	FRMD6	psi-mi:“MI:0915”(physical association)	0.670
RASSF8	FRMD6	psi-mi:“MI:0915”(physical association)	0.660
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
FRMD6	YWHAZ	psi-mi:“MI:0914”(association)	0.610
WDR7	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
IKZF1	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
DNAJA3	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
FLJ13057	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
FRMD6	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
FRMD6	JMJD6	psi-mi:“MI:0915”(physical association)	0.560
COX6B2	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
EXOC5	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
FRMD6	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
BLZF1	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
FRMD6	MED4	psi-mi:“MI:0915”(physical association)	0.560
MID2	FRMD6	psi-mi:“MI:0915”(physical association)	0.560
FRMD6	SSX2IP	psi-mi:“MI:0915”(physical association)	0.560
FRMD6		psi-mi:“MI:0915”(physical association)	0.560

BioGRID (85): FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), FRMD6 (Two-hybrid), COX6B2 (Two-hybrid), LOC727751 (Two-hybrid), TP53BP2 (Affinity Capture-MS)

ESM2 similar proteins: A2A2Y4, A2AFR3, A4IJ06, B9EJ86, E1C3P4, F1LXF1, G9CGD6, O08874, O14795, P49797, Q05AA6, Q0P4Q4, Q0VGY8, Q13474, Q14CM0, Q16513, Q3B7D5, Q566C5, Q5F3L9, Q5R803, Q62769, Q641K1, Q69ZK0, Q6DRP4, Q6NTL4, Q6PAJ1, Q6ZM86, Q7Z628, Q80TI0, Q8BHD4, Q8BMS9, Q8C0V9, Q8CB96, Q8IZC4, Q8K2Y9, Q8TCU6, Q923Q2, Q92625, Q96NE9, Q9BSQ5

Diamond homologs: Q8C0V9, Q8N878, Q8VII0, Q96NE9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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	106.6×	2e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	94.0×	3e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	94.0×	3e-11
Activation of BH3-only proteins	8	79.4×	6e-12
Intrinsic Pathway for Apoptosis	8	46.9×	2e-10
RHO GTPases activate PKNs	7	44.4×	7e-09
FOXO-mediated transcription	5	33.6×	6e-06
Apoptosis	8	26.9×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	32.8×	1e-05
intracellular protein localization	7	10.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3489 predictions. Top by Δscore:

Variant	Effect	Δscore
14:51489417:GCAG:G	donor_gain	1.0000
14:51489419:AGG:A	donor_loss	1.0000
14:51489420:GG:G	donor_loss	1.0000
14:51689936:G:GG	donor_gain	1.0000
14:51692184:GG:G	donor_gain	1.0000
14:51692185:GG:G	donor_gain	1.0000
14:51698139:CA:C	acceptor_loss	1.0000
14:51698140:A:AT	acceptor_loss	1.0000
14:51698229:CAAA:C	donor_gain	1.0000
14:51698230:AAA:A	donor_gain	1.0000
14:51698231:AA:A	donor_gain	1.0000
14:51698231:AAGT:A	donor_loss	1.0000
14:51698232:AG:A	donor_loss	1.0000
14:51698233:G:GG	donor_gain	1.0000
14:51698233:G:T	donor_loss	1.0000
14:51698234:T:TC	donor_loss	1.0000
14:51700041:T:TA	acceptor_gain	1.0000
14:51700042:G:A	acceptor_gain	1.0000
14:51700045:A:AG	acceptor_gain	1.0000
14:51700046:T:G	acceptor_gain	1.0000
14:51700053:A:AG	acceptor_gain	1.0000
14:51700054:G:GG	acceptor_gain	1.0000
14:51701049:T:G	acceptor_gain	1.0000
14:51702503:T:TA	acceptor_gain	1.0000
14:51702506:TTCTA:T	acceptor_loss	1.0000
14:51702507:TCTAG:T	acceptor_loss	1.0000
14:51702508:CTAG:C	acceptor_loss	1.0000
14:51702509:TA:T	acceptor_loss	1.0000
14:51702510:A:AG	acceptor_gain	1.0000
14:51702510:A:T	acceptor_loss	1.0000

AlphaMissense

4151 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:51701115:T:A	W84R	1.000
14:51701115:T:C	W84R	1.000
14:51704784:T:C	L136P	1.000
14:51704856:T:C	L160P	1.000
14:51708162:G:C	A215P	1.000
14:51711579:G:A	G255R	1.000
14:51711579:G:C	G255R	1.000
14:51711580:G:A	G255E	1.000
14:51712522:T:A	W274R	1.000
14:51712522:T:C	W274R	1.000
14:51712524:G:C	W274C	1.000
14:51712524:G:T	W274C	1.000
14:51712541:T:C	L280S	1.000
14:51712546:T:C	F282L	1.000
14:51712548:T:A	F282L	1.000
14:51712548:T:G	F282L	1.000
14:51715335:T:C	F287S	1.000
14:51715341:T:C	I289T	1.000
14:51715341:T:G	I289S	1.000
14:51715374:T:C	L300P	1.000
14:51715379:T:G	Y302D	1.000
14:51715413:T:C	L313P	1.000
14:51715436:C:G	H321D	1.000
14:51698212:T:C	F57S	0.999
14:51698215:G:A	G58E	0.999
14:51698218:T:A	L59H	0.999
14:51698218:T:G	L59R	0.999
14:51698220:A:C	S60R	0.999
14:51698222:T:A	S60R	0.999
14:51698222:T:G	S60R	0.999

dbSNP variants (sampled 300 via entrez): RS1000000014 (14:51682369 T>C), RS1000003253 (14:51552236 A>G), RS1000011638 (14:51419440 C>T), RS1000023674 (14:51706154 C>T), RS1000047014 (14:51585980 C>A,T), RS1000054141 (14:51715003 G>A), RS1000063095 (14:51428796 G>T), RS1000069887 (14:51407421 T>C,G), RS1000083325 (14:51633335 C>T), RS1000091306 (14:51537125 T>C), RS1000095125 (14:51623282 A>T), RS1000109824 (14:51675867 A>C), RS1000110074 (14:51594188 G>A,C,T), RS1000127701 (14:51622872 C>T), RS1000144918 (14:51505413 C>T)

Disease associations

OMIM: gene MIM:614555 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000461_13	Hippocampal atrophy	1.000000e-06
GCST000597_11	Brain structure	5.000000e-07
GCST000898_8	Total ventricular volume	3.000000e-06
GCST001365_8	Anticoagulant levels	8.000000e-06
GCST002392_2	Lung cancer (smoking interaction)	7.000000e-06
GCST003075_46	Cognitive decline rate in late mild cognitive impairment	1.000000e-06
GCST003075_52	Cognitive decline rate in late mild cognitive impairment	2.000000e-06
GCST004088_11	Nonsyndromic cleft lip with or without cleft palate	2.000000e-07
GCST004088_12	Nonsyndromic cleft lip with or without cleft palate	7.000000e-10
GCST009597_249	Multiple sclerosis	1.000000e-09
GCST009615_14	Triglyceride levels x loop diuretics use interaction	3.000000e-07
GCST009615_15	Triglyceride levels x loop diuretics use interaction	6.000000e-06
GCST010397_3	Gut microbiota (bacterial taxa, rank normal transformation method)	8.000000e-07

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0004633	protein C measurement
EFO:0006527	smoking status measurement
EFO:0007710	cognitive decline measurement
EFO:0003959	cleft lip
EFO:0004530	triglyceride measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, affects methylation, decreases methylation	3
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	increases abundance, decreases expression	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Ozone	increases oxidation, increases abundance, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, increases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	affects expression	1
methylparaben	increases expression	1
afimoxifene	decreases expression, decreases reaction	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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