FILIP1

Summary

FILIP1 (filamin A interacting protein 1, HGNC:21015) is a protein-coding gene on chromosome 6q14.1, encoding Filamin-A-interacting protein 1 (Q7Z7B0). By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone.

This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling.

Source: NCBI Gene 27145 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neuromuscular disorder, congenital, with dysmorphic facies (Strong, GenCC)
• GWAS associations: 31
• Clinical variants (ClinVar): 187 total — 6 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 69
• MANE Select transcript: NM_015687

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21015
Approved symbol	FILIP1
Name	filamin A interacting protein 1
Location	6q14.1
Locus type	gene with protein product
Status	Approved
Aliases	FILIP, KIAA1275
Ensembl gene	ENSG00000118407
Ensembl biotype	protein_coding
OMIM	607307
Entrez	27145

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000237172, ENST00000370020, ENST00000393004, ENST00000498523, ENST00000865871, ENST00000970094, ENST00000970095

RefSeq mRNA: 3 — MANE Select: NM_015687 NM_001289987, NM_001300866, NM_015687

CCDS: CCDS4984, CCDS75480

Canonical transcript exons

ENST00000237172 — 6 exons

Exon	Start	End
ENSE00000797945	75353539	75353717
ENSE00000797946	75362744	75362917
ENSE00001253077	75414697	75414978
ENSE00001892019	75493414	75493800
ENSE00001896263	75308090	75308897
ENSE00003524900	75312397	75315202

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 98.92.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4590 / max 191.6009, expressed in 427 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74473	1.0449	207
74471	0.3254	122
74468	0.2926	127
74469	0.2123	45
74475	0.1469	74
74474	0.1427	72
74472	0.1242	43
74467	0.0853	41
74476	0.0847	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.86	gold quality
myocardium	UBERON:0002349	98.73	gold quality
tibialis anterior	UBERON:0001385	98.69	gold quality
deltoid	UBERON:0001476	98.39	gold quality
heart right ventricle	UBERON:0002080	98.27	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.26	gold quality
biceps brachii	UBERON:0001507	98.17	gold quality
quadriceps femoris	UBERON:0001377	98.16	gold quality
vastus lateralis	UBERON:0001379	98.09	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.68	gold quality
skeletal muscle tissue	UBERON:0001134	96.46	gold quality
muscle tissue	UBERON:0002385	95.36	gold quality
body of tongue	UBERON:0011876	91.51	gold quality
gastrocnemius	UBERON:0001388	91.43	gold quality
cardiac ventricle	UBERON:0002082	91.29	gold quality
heart left ventricle	UBERON:0002084	91.05	gold quality
saphenous vein	UBERON:0007318	90.96	gold quality
muscle of leg	UBERON:0001383	90.67	gold quality
tendon of biceps brachii	UBERON:0008188	89.94	gold quality
heart	UBERON:0000948	89.85	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.66	gold quality
cardiac atrium	UBERON:0002081	89.11	gold quality
vena cava	UBERON:0004087	88.79	gold quality
right atrium auricular region	UBERON:0006631	88.36	gold quality
ventricular zone	UBERON:0003053	86.70	gold quality
lower lobe of lung	UBERON:0008949	86.33	gold quality
visceral pleura	UBERON:0002401	86.30	gold quality
smooth muscle tissue	UBERON:0001135	85.84	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	12.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting FILIP1, 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-548AW	99.99	72.57	3559
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-4666A-5P	99.41	69.72	1887

Literature-anchored findings (GeneRIF, showing 4)

• Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1. (PMID:23087206)
• Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma. (PMID:34000624)
• Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. (PMID:36943452)
• Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. (PMID:37163662)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	filip1a	ENSDARG00000078419
danio_rerio	filip1b	ENSDARG00000079634
mus_musculus	Filip1	ENSMUSG00000034898
rattus_norvegicus	Filip1	ENSRNOG00000011521
caenorhabditis_elegans		WBGENE00016792

Paralogs (3): CTTNBP2NL (ENSG00000143079), FILIP1L (ENSG00000168386), LUZP1 (ENSG00000169641)

Protein

Protein identifiers

Filamin-A-interacting protein 1 — Q7Z7B0 (reviewed: Q7Z7B0)

All UniProt accessions (2): Q7Z7B0, A0A075B6G6

UniProt curated annotations — full annotation on UniProt →

Function. By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.

Subunit / interactions. Interacts with FLNA. Interacts with RHOD (in GTP-bound form).

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Moderately expressed in adult heart and brain. Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and fetal brain, and hardly detectable in liver, pancreas, spleen, and fetal liver. Within brain, moderate expression is found in amygdala and caudate nucleus. Expressed in skin fibroblasts.

Disease relevance. Neuromuscular disorder, congenital, with dysmorphic facies (NMDF) [MIM:620775] An autosomal recessive neuromuscular disorder characterized by multiple congenital joint contractures, hypotonia, muscle weakness, and facial dysmorphism. Patients may also exhibit motor delay, speech delay, impaired intellectual development, and abnormal brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the FILIP1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z7B0-1	1, L-FILIP	yes
Q7Z7B0-2	2
Q7Z7B0-3	3, S-FILIP

RefSeq proteins (3): NP_001276916, NP_001287795, NP_056502* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019131	Cortactin-binding_p2_N	Domain
IPR050719	Cortactin-Actin_Reg	Family

Pfam: PF09727

UniProt features (32 total): sequence conflict 9, compositionally biased region 6, sequence variant 6, region of interest 4, modified residue 2, splice variant 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7B0-F1	68.05	0.33

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): 138, 979

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9013405	RHOD GTPase cycle

MSigDB gene sets: 292 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, AP4_Q6, GOBP_NEUROGENESIS, CHX10_01, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_FOREBRAIN_DEVELOPMENT, NKX62_Q2, GOBP_CELL_JUNCTION_ORGANIZATION, GATA3_01, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, TGCTGAY_UNKNOWN, GOBP_PALLIUM_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5

GO Biological Process (5): neuron migration (GO:0001764), cerebral cortex development (GO:0021987), corpus callosum development (GO:0022038), modification of postsynaptic structure (GO:0099010), protein localization to actin cytoskeleton (GO:1903119)

GO Molecular Function (0):

GO Cellular Component (7): nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	2
intracellular membraneless organelle	2
cellular anatomical structure	2
cell migration	1
generation of neurons	1
pallium development	1
telencephalon development	1
modification of synaptic structure	1
protein localization to cytoskeleton	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
cytoskeleton	1
synapse	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FILIP1	FLNA	P21333	974
FILIP1	SENP6	Q9GZR1	588
FILIP1	WHAMM	Q8TF30	587
FILIP1	ERVW-1	Q9UQF0	553
FILIP1	FLNC	Q14315	518
FILIP1	KLHL42	Q9P2K6	507
FILIP1	GLT8D1	Q68CQ7	480
FILIP1	FLNB	O75369	479
FILIP1	CLDN20	P56880	455
FILIP1	OTOGL	Q3ZCN5	452
FILIP1	EMC2	Q15006	451
FILIP1	ASTN2	O75129	447
FILIP1	MCF2L	O15068	444
FILIP1	CHST11	Q9NPF2	430
FILIP1	RHOD	O00212	414

IntAct

9 interactions, top by confidence:

A	B	Type	Score
FILIP1	NPM1	psi-mi:“MI:0915”(physical association)	0.400
RAD51D	FILIP1	psi-mi:“MI:0915”(physical association)	0.400
FILIP1	CDC42	psi-mi:“MI:0915”(physical association)	0.370
FILIP1		psi-mi:“MI:0915”(physical association)	0.370
PPP1CA	ACO2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
FILIP1	DAPK3	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): FILIP1 (Reconstituted Complex), FILIP1 (Proximity Label-MS), FILIP1 (Proximity Label-MS), FILIP1 (Proximity Label-MS), MOB4 (Affinity Capture-MS), NEK7 (Affinity Capture-MS), DAPK3 (Affinity Capture-MS), PIBF1 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), PDCD10 (Affinity Capture-MS), MYL4 (Affinity Capture-MS), TBK1 (Affinity Capture-MS), PRKAR1B (Affinity Capture-MS), MIB1 (Affinity Capture-MS)

ESM2 similar proteins: A0MZ66, A0MZ67, A6PWD2, A7MD70, B3DLE8, B9EKI3, F7DP49, O35550, O35551, O45420, P82094, Q05D60, Q08DR9, Q15276, Q28IH8, Q3KR99, Q3UIJ9, Q4L180, Q4R7H3, Q4V7C8, Q53EZ4, Q5BIX7, Q5R923, Q5RA03, Q5RI56, Q5U3Z6, Q6NRC9, Q6NRW2, Q6P0R8, Q6P402, Q6P6L0, Q7YS99, Q7Z7B0, Q861Q8, Q8BT07, Q8BVC4, Q8K2Q9, Q8K3K8, Q8K4T4, Q8R5M4

Diamond homologs: A3KNA5, Q4L180, Q5RDH2, Q6P6L0, Q7Z7B0, Q8K4T4, Q8SX68, Q99LJ0, Q9CS72, Q9P2B4, A0M8S4, A0M8T5, A1X157, B9EJA2, Q00PJ1, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	151
Likely benign	15
Benign	5

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
3066458	NM_015687.5(FILIP1):c.463G>T (p.Glu155Ter)	Pathogenic
3066459	NM_015687.5(FILIP1):c.2665C>T (p.Arg889Ter)	Pathogenic
3066460	NC_000006.12:g.75288632_75374566del	Pathogenic
3066461	NM_015687.5(FILIP1):c.169C>T (p.Arg57Ter)	Pathogenic
3066462	NM_015687.5(FILIP1):c.3398C>T (p.Pro1133Leu)	Pathogenic
4293894	NM_015687.5(FILIP1):c.1039G>T (p.Glu347Ter)	Pathogenic
3391155	NM_015687.5(FILIP1):c.694C>T (p.Arg232Ter)	Likely pathogenic

SpliceAI

2034 predictions. Top by Δscore:

Variant	Effect	Δscore
6:75308894:CTGA:C	acceptor_gain	1.0000
6:75308898:C:CC	acceptor_gain	1.0000
6:75315200:AACC:A	acceptor_loss	1.0000
6:75315201:ACC:A	acceptor_loss	1.0000
6:75315203:C:CA	acceptor_loss	1.0000
6:75315203:C:CC	acceptor_gain	1.0000
6:75353533:CATTA:C	donor_loss	1.0000
6:75353534:ATTAC:A	donor_loss	1.0000
6:75353535:TTACC:T	donor_loss	1.0000
6:75353536:TAC:T	donor_loss	1.0000
6:75353537:ACC:A	donor_loss	1.0000
6:75353538:C:G	donor_loss	1.0000
6:75353538:CCT:C	donor_gain	1.0000
6:75353714:CCAG:C	acceptor_gain	1.0000
6:75353715:CAG:C	acceptor_gain	1.0000
6:75353715:CAGC:C	acceptor_gain	1.0000
6:75353718:C:CC	acceptor_gain	1.0000
6:75353719:T:C	acceptor_loss	1.0000
6:75362738:TTTTA:T	donor_loss	1.0000
6:75362739:TTTAC:T	donor_loss	1.0000
6:75362740:TTA:T	donor_loss	1.0000
6:75362741:TA:T	donor_loss	1.0000
6:75362743:C:CA	donor_loss	1.0000
6:75362743:CCT:C	donor_gain	1.0000
6:75362913:CTGGC:C	acceptor_gain	1.0000
6:75362914:TGGC:T	acceptor_gain	1.0000
6:75362915:GGC:G	acceptor_gain	1.0000
6:75362916:GC:G	acceptor_gain	1.0000
6:75362917:CC:C	acceptor_gain	1.0000
6:75362918:C:CC	acceptor_gain	1.0000

AlphaMissense

7981 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:75312626:A:C	I1069S	1.000
6:75312626:A:G	I1069T	1.000
6:75312626:A:T	I1069N	1.000
6:75312632:A:C	I1067S	1.000
6:75312632:A:G	I1067T	1.000
6:75312971:A:T	I954N	1.000
6:75312977:A:G	I952T	1.000
6:75313052:A:G	I927T	1.000
6:75313052:A:T	I927K	1.000
6:75313058:A:G	L925S	1.000
6:75313097:A:C	I912S	1.000
6:75313097:A:G	I912T	1.000
6:75313097:A:T	I912N	1.000
6:75312440:A:T	I1131K	0.999
6:75312446:A:C	I1129S	0.999
6:75312446:A:T	I1129N	0.999
6:75312632:A:T	I1067N	0.999
6:75312971:A:C	I954S	0.999
6:75312971:A:G	I954T	0.999
6:75312977:A:C	I952R	0.999
6:75312977:A:T	I952K	0.999
6:75313052:A:C	I927R	0.999
6:75313058:A:C	L925W	0.999
6:75313064:G:T	A923E	0.999
6:75313065:C:G	A923P	0.999
6:75313091:A:T	V914E	0.999
6:75313094:C:G	R913P	0.999
6:75314192:A:G	L547P	0.999
6:75314339:A:G	L498P	0.999
6:75315104:A:G	L243P	0.999

dbSNP variants (sampled 300 via entrez): RS1000023340 (6:75350599 T>A), RS1000028288 (6:75402593 A>C), RS1000046012 (6:75463786 G>A), RS1000046546 (6:75320056 A>G), RS1000048913 (6:75437639 T>A,C), RS1000080185 (6:75402976 A>G), RS1000080557 (6:75440168 C>A,T), RS1000112106 (6:75373909 T>C), RS1000114190 (6:75333171 A>G), RS1000129147 (6:75462499 T>C), RS1000129368 (6:75346095 T>C), RS1000134089 (6:75296169 C>G), RS1000134765 (6:75309534 C>T), RS1000135131 (6:75357444 T>A), RS1000138216 (6:75450084 C>A,T)

Disease associations

OMIM: gene MIM:607307 | disease phenotypes: MIM:620775

GenCC curated gene-disease

Disease	Classification	Inheritance
neuromuscular disorder, congenital, with dysmorphic facies	Strong	Autosomal recessive

Mondo (1): neuromuscular disorder, congenital, with dysmorphic facies (MONDO:0958332)

Orphanet (0):

HPO phenotypes

69 total (30 of 69 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000325	Triangular face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000431	Wide nasal bridge
HP:0000448	Prominent nose
HP:0000463	Anteverted nares
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000494	Downslanted palpebral fissures
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0000873	Diabetes insipidus
HP:0000954	Single transverse palmar crease
HP:0001159	Syndactyly
HP:0001181	Adducted thumb

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST002647_54	Height	5.000000e-25
GCST004063_96	Waist circumference adjusted for body mass index	3.000000e-09
GCST004063_98	Waist circumference adjusted for body mass index	7.000000e-06
GCST004067_156	Hip circumference adjusted for BMI	2.000000e-08
GCST004067_19	Hip circumference adjusted for BMI	1.000000e-13
GCST004067_212	Hip circumference adjusted for BMI	1.000000e-07
GCST004500_5	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	7.000000e-10
GCST004500_82	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	7.000000e-06
GCST004500_89	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004501_46	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-10
GCST004501_47	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	5.000000e-07
GCST004501_48	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	7.000000e-06
GCST004504_47	Waist circumference adjusted for BMI in non-smokers	3.000000e-06
GCST004504_48	Waist circumference adjusted for BMI in non-smokers	5.000000e-08
GCST004562_172	Waist circumference adjusted for body mass index	3.000000e-09
GCST004562_225	Waist circumference adjusted for body mass index	2.000000e-06
GCST004563_188	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	6.000000e-06
GCST004563_245	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	7.000000e-09
GCST004564_174	Waist circumference adjusted for BMI in active individuals	9.000000e-06
GCST004564_175	Waist circumference adjusted for BMI in active individuals	1.000000e-07
GCST006926_13	Osteoarthritis (hip)	3.000000e-15
GCST007001_5	Cerebrospinal AB1-42 levels in normal cognition	3.000000e-07
GCST007091_17	Osteoarthritis (hip)	2.000000e-13
GCST010396_300	Gut microbiota (bacterial taxa, hurdle binary method)	1.000000e-07
GCST012226_479	Waist circumference adjusted for body mass index	6.000000e-14
GCST012227_14	Hip circumference adjusted for BMI	1.000000e-08
GCST012227_15	Hip circumference adjusted for BMI	2.000000e-16
GCST012227_16	Hip circumference adjusted for BMI	3.000000e-08
GCST90020028_603	Hip circumference adjusted for BMI	5.000000e-11
GCST90020028_604	Hip circumference adjusted for BMI	3.000000e-18

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0004670	beta-amyloid 1-42 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, increases expression	4
Decitabine	affects expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Nickel	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
trichostatin A	increases expression, decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
clothianidin	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases abundance, decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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