RILPL1

Summary

RILPL1 (Rab interacting lysosomal protein like 1, HGNC:26814) is a protein-coding gene on chromosome 12q24.31, encoding RILP-like protein 1 (Q5EBL4). Plays a role in the regulation of cell shape and polarity.

Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; nitric oxide mediated signal transduction; and protein transport from ciliary membrane to plasma membrane. Located in several cellular components, including cytosol; microtubule organizing center; and nucleoplasm. Implicated in oculopharyngodistal myopathy 4.

Source: NCBI Gene 353116 — RefSeq curated summary.

At a glance

• Gene–disease (curated): oculopharyngodistal myopathy 4 (Limited, GenCC)
• GWAS associations: 19
• Clinical variants (ClinVar): 61 total
• Phenotypes (HPO): 54
• MANE Select transcript: NM_178314

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26814
Approved symbol	RILPL1
Name	Rab interacting lysosomal protein like 1
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39378
Ensembl gene	ENSG00000188026
Ensembl biotype	protein_coding
OMIM	614092
Entrez	353116

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000340724, ENST00000376874, ENST00000544468, ENST00000623184, ENST00000636882, ENST00000876651, ENST00000876652, ENST00000876653, ENST00000942659, ENST00000942660, ENST00000942661, ENST00000942662, ENST00000942663, ENST00000942664, ENST00000942665, ENST00000942666, ENST00000942667, ENST00000942668

RefSeq mRNA: 4 — MANE Select: NM_178314 NM_001319243, NM_001319244, NM_001319302, NM_178314

CCDS: CCDS45006, CCDS81752

Canonical transcript exons

ENST00000376874 — 7 exons

Exon	Start	End
ENSE00001366119	123485633	123485805
ENSE00001367887	123523495	123523645
ENSE00001377405	123499418	123499536
ENSE00001382139	123498544	123498765
ENSE00001684331	123470054	123472682
ENSE00003680638	123484180	123484272
ENSE00003849759	123533174	123533719

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7890 / max 71.7681, expressed in 1659 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133954	4.6964	1586
133955	1.2690	809
133956	0.4907	302
133957	0.1702	65
133953	0.1627	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.42	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.24	gold quality
apex of heart	UBERON:0002098	97.29	gold quality
tibialis anterior	UBERON:0001385	97.12	gold quality
cardiac atrium	UBERON:0002081	96.48	gold quality
right atrium auricular region	UBERON:0006631	96.38	gold quality
myocardium	UBERON:0002349	96.32	gold quality
heart left ventricle	UBERON:0002084	96.04	gold quality
cardiac ventricle	UBERON:0002082	96.03	gold quality
vastus lateralis	UBERON:0001379	96.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.80	gold quality
heart right ventricle	UBERON:0002080	95.28	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.14	gold quality
skeletal muscle tissue	UBERON:0001134	95.11	gold quality
heart	UBERON:0000948	94.86	gold quality
quadriceps femoris	UBERON:0001377	94.71	gold quality
deltoid	UBERON:0001476	94.53	gold quality
gastrocnemius	UBERON:0001388	94.39	gold quality
muscle of leg	UBERON:0001383	94.29	gold quality
muscle tissue	UBERON:0002385	94.26	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.16	gold quality
body of tongue	UBERON:0011876	94.11	gold quality
biceps brachii	UBERON:0001507	93.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.64	gold quality
spinal cord	UBERON:0002240	93.22	gold quality
vena cava	UBERON:0004087	92.27	silver quality
sural nerve	UBERON:0015488	92.00	gold quality
inferior vagus X ganglion	UBERON:0005363	91.67	gold quality
ascending aorta	UBERON:0001496	91.49	gold quality
thoracic aorta	UBERON:0001515	91.37	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.18
E-MTAB-4850	no	69.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting RILPL1, 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-3134	100.00	66.43	777
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-222-5P	98.75	69.17	1242

Literature-anchored findings (GeneRIF, showing 4)

• NAD(+) inhibited both GAPDH aggregation and co-aggregation with GOSPEL, a hitherto undescribed effect of the coenzyme against the consequences of oxidative stress. (PMID:27282776)
• Pathogenic LRRK2 causes the centrosomal accumulation not only of phosho-RAB8 but also of phospho-RAB10, and the effects on centrosomal cohesion are dependent on RAB8, RAB10 and RILPL1. (PMID:31428781)
• The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. (PMID:35148830)
• A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy. (PMID:37864208)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rilpl1	ENSMUSG00000029392
rattus_norvegicus	Rilpl1	ENSRNOG00000001055
drosophila_melanogaster	Rilpl	FBGN0024985
caenorhabditis_elegans		WBGENE00007860

Paralogs (4): DZIP1 (ENSG00000134874), RILPL2 (ENSG00000150977), DZIP1L (ENSG00000158163), RILP (ENSG00000167705)

Protein

Protein identifiers

RILP-like protein 1 — Q5EBL4 (reviewed: Q5EBL4)

Alternative names: Rab-interacting lysosomal-like protein 1

All UniProt accessions (2): Q5EBL4, A0A1B0GVV3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport, including protein transport away from primary cilia. Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH. Does not regulate lysosomal morphology and distribution. Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis.

Subunit / interactions. Interacts (when S-nitrosylated) with GAPDH. Interacts with RAB8A; interaction is dependent on the phosphorylation of ‘Thr-72’ of RAB8A. Interacts with RAB10 and RAB12; the interaction is dependent on the phosphorylation of ‘Thr-73’ of RAB10, and ‘Ser-105’ of RAB12.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.

Tissue specificity. Widely expressed. Expressed at lower level in liver and kidney.

Post-translational modifications. S-nitrosylation is required for the interaction with GAPDH.

Disease relevance. Oculopharyngodistal myopathy 4 (OPDM4) [MIM:619790] A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades. The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene. The expansion ranges from 139 to 197 repeats in individuals with OPDM, and 9 to 1 repeats in controls.

Similarity. Belongs to the RILPL family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5EBL4-1	1	yes
Q5EBL4-2	2
Q5EBL4-3	3

RefSeq proteins (4): NP_001306172, NP_001306173, NP_001306231, NP_847884* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021563	RILP_dimer	Domain
IPR034743	RH1	Domain
IPR034744	RH2	Domain
IPR051241	DZIP_RILPL	Family

Pfam: PF09744, PF11461

UniProt features (21 total): mutagenesis site 5, splice variant 4, modified residue 3, region of interest 3, domain 2, compositionally biased region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9QM9	X-RAY DIFFRACTION	1.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5EBL4-F1	76.18	0.45

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 (3): 47, 259, 7

Mutagenesis-validated functional residues (5):

Position	Phenotype
291	loss of interaction with rab8a and rab10.
293	loss of interaction with rab8a.
300	no loss of interaction with rab8a.
310	loss of interaction with rab8a.
324	no loss of interaction with rab8a.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 232 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, AGGAAGC_MIR5163P, GOBP_EPITHELIUM_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GCAAGGA_MIR502, GOMF_GTPASE_BINDING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOCC_MICROTUBULE_ORGANIZING_CENTER, GTGCCTT_MIR506, FOSTER_TOLERANT_MACROPHAGE_UP, AML_Q6, GOBP_CILIUM_ORGANIZATION

GO Biological Process (5): epithelial cell morphogenesis (GO:0003382), obsolete nitric oxide mediated signal transduction (GO:0007263), cilium assembly (GO:0060271), protein transport from ciliary membrane to plasma membrane (GO:1903445), protein transport (GO:0015031)

GO Molecular Function (4): small GTPase binding (GO:0031267), protein dimerization activity (GO:0046983), dynein light intermediate chain binding (GO:0051959), protein binding (GO:0005515)

GO Cellular Component (10): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
microtubule organizing center	3
protein binding	2
intracellular membraneless organelle	2
cell morphogenesis	1
epithelial cell development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein transport within lipid bilayer	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
GTPase binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
centriole	1
cytoplasm	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RILPL1	RAB10	P61026	945
RILPL1	RAB8A	P24407	887
RILPL1	RAB29	O14966	717
RILPL1	PPM1H	Q9ULR3	684
RILPL1	RAB12	Q6IQ22	669
RILPL1	EHBP1L1	Q8N3D4	643
RILPL1	RAB35	Q15286	617
RILPL1	SIAH1	Q8IUQ4	514
RILPL1	RARB	P10826	511
RILPL1	EHBP1	Q8NDI1	500
RILPL1	RINT1	Q6NUQ1	487
RILPL1	RAB3A	P20336	479
RILPL1	MAPK8IP3	Q9UPT6	456
RILPL1	AP1M1	Q9BXS5	449
RILPL1	RAB43	Q86YS6	444

IntAct

11 interactions, top by confidence:

A	B	Type	Score
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
RAB12	CHM	psi-mi:“MI:0914”(association)	0.530
RAB8A	RILPL1	psi-mi:“MI:0915”(physical association)	0.500
RILPL1	RAB8A	psi-mi:“MI:0914”(association)	0.500
RAB10	RAB19	psi-mi:“MI:0914”(association)	0.350
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
MTSS2	CHEK1	psi-mi:“MI:0914”(association)	0.350
CMIP	INPPL1	psi-mi:“MI:0914”(association)	0.350
RILPL1	lon	psi-mi:“MI:0915”(physical association)	0.000
DSCAM	RILPL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): RILPL1 (Affinity Capture-RNA), RILPL1 (Affinity Capture-RNA), RILPL1 (Affinity Capture-RNA), RILPL1 (Two-hybrid), RILPL1 (Two-hybrid), RILPL1 (Two-hybrid), RILPL1 (Two-hybrid), RILPL1 (Two-hybrid), RILPL1 (Two-hybrid), RILPL1 (Affinity Capture-RNA), RILPL1 (Proximity Label-MS), RILPL1 (Affinity Capture-MS), RILPL1 (Affinity Capture-MS), RAB8A (Affinity Capture-Western), RAB10 (Affinity Capture-Western)

ESM2 similar proteins: A0A5F9C6I2, A0JPN6, A4IIZ9, A5WUL3, D3ZUQ0, D3ZXK7, F1R7R1, O43513, O57595, O75916, P51593, P53349, P68943, P85299, Q08DY8, Q13233, Q15528, Q17QG3, Q2F7Z4, Q2TBN4, Q2YDF2, Q3B8I4, Q3T123, Q5BJ48, Q5E9K2, Q5EBL4, Q5FVG6, Q5RKN3, Q5XIX8, Q5XPI3, Q5XPI4, Q62276, Q62739, Q6GQ95, Q6QB00, Q6ZUS6, Q7TMY8, Q7ZV35, Q800L3, Q80U62

Diamond homologs: A0PJP4, A0PJT0, A4IFK7, A4IGC3, D3ZUQ0, O76878, Q0IHE5, Q0P4J3, Q17QG3, Q5EBL4, Q6AYA0, Q6IP02, Q969X0, Q99LE1, Q9JJC6, Q5ND29, Q29EP6, Q96NA2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 15 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
RAB geranylgeranylation	5	86.5×	6e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1619 predictions. Top by Δscore:

Variant	Effect	Δscore
12:123484178:A:AC	donor_gain	1.0000
12:123484179:C:CC	donor_gain	1.0000
12:123484179:CAGT:C	donor_gain	1.0000
12:123484268:CTTCA:C	acceptor_gain	1.0000
12:123484271:CA:C	acceptor_gain	1.0000
12:123484272:ACTG:A	acceptor_loss	1.0000
12:123484273:C:CC	acceptor_gain	1.0000
12:123485654:T:TA	donor_gain	1.0000
12:123485801:TCCGT:T	acceptor_gain	1.0000
12:123485802:CCGT:C	acceptor_gain	1.0000
12:123485802:CCGTC:C	acceptor_gain	1.0000
12:123485803:CGT:C	acceptor_gain	1.0000
12:123485803:CGTC:C	acceptor_gain	1.0000
12:123485804:GT:G	acceptor_gain	1.0000
12:123485805:TCT:T	acceptor_loss	1.0000
12:123485806:C:CC	acceptor_gain	1.0000
12:123485806:CTGGA:C	acceptor_loss	1.0000
12:123485807:T:A	acceptor_loss	1.0000
12:123498534:T:TA	donor_gain	1.0000
12:123498539:CTCA:C	donor_loss	1.0000
12:123498540:TCACC:T	donor_loss	1.0000
12:123498541:CACCT:C	donor_loss	1.0000
12:123498543:CCTC:C	donor_loss	1.0000
12:123498600:T:TA	donor_gain	1.0000
12:123498601:C:A	donor_gain	1.0000
12:123498761:TGTAA:T	acceptor_gain	1.0000
12:123498762:GTAA:G	acceptor_gain	1.0000
12:123498763:TAA:T	acceptor_gain	1.0000
12:123498764:AA:A	acceptor_gain	1.0000
12:123498766:C:CC	acceptor_gain	1.0000

AlphaMissense

2648 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:123485681:A:G	L309P	1.000
12:123485711:A:G	L299P	1.000
12:123485725:G:C	F294L	1.000
12:123485725:G:T	F294L	1.000
12:123485726:A:G	F294S	1.000
12:123485727:A:G	F294L	1.000
12:123498722:A:G	L208P	1.000
12:123498743:A:G	L201P	1.000
12:123499462:C:G	A179P	1.000
12:123499476:C:G	R174P	1.000
12:123499479:T:G	Q173P	1.000
12:123499500:A:G	L166P	1.000
12:123523578:A:G	L126P	1.000
12:123523599:A:G	L119P	1.000
12:123533292:A:G	L64P	1.000
12:123533301:A:G	L61P	1.000
12:123533301:A:T	L61Q	1.000
12:123533379:C:T	G35D	1.000
12:123533380:C:G	G35R	1.000
12:123533391:G:T	A31E	1.000
12:123484189:A:C	I353S	0.999
12:123484189:A:G	I353T	0.999
12:123484189:A:T	I353N	0.999
12:123485660:A:G	L316P	0.999
12:123485689:C:A	R306S	0.999
12:123485689:C:G	R306S	0.999
12:123485699:A:G	L303P	0.999
12:123485708:C:G	R300P	0.999
12:123498719:C:G	R209P	0.999
12:123498746:C:G	R200P	0.999

dbSNP variants (sampled 300 via entrez): RS1000026852 (12:123502083 A>G), RS1000128712 (12:123495770 T>A), RS1000151850 (12:123470012 A>G,T), RS1000156269 (12:123502401 G>A), RS1000212857 (12:123508629 T>G), RS1000224036 (12:123503879 T>C), RS1000258928 (12:123479431 G>C), RS1000298129 (12:123471448 G>C), RS1000313016 (12:123508177 G>A,T), RS1000328868 (12:123471728 C>T), RS1000391042 (12:123522646 C>G,T), RS1000646679 (12:123506688 T>C), RS1000687038 (12:123516785 G>A), RS1000716574 (12:123513505 C>T), RS1000722117 (12:123521033 C>T)

Disease associations

OMIM: gene MIM:614092 | disease phenotypes: MIM:619790

GenCC curated gene-disease

Disease	Classification	Inheritance
oculopharyngodistal myopathy 4	Limited	Autosomal dominant

Mondo (1): oculopharyngodistal myopathy 4 (MONDO:0030712)

Orphanet (0):

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000183	Tongue muscle weakness
HP:0000218	High palate
HP:0000301	Abnormality of facial musculature
HP:0000408	Progressive sensorineural hearing impairment
HP:0000508	Ptosis
HP:0000544	External ophthalmoplegia
HP:0000590	Progressive external ophthalmoplegia
HP:0000597	Ophthalmoparesis
HP:0000651	Diplopia
HP:0001260	Dysarthria
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001337	Tremor
HP:0001604	Vocal cord paresis
HP:0001611	Hypernasal speech
HP:0001824	Weight loss
HP:0002015	Dysphagia
HP:0002058	Myopathic facies
HP:0002091	Restrictive ventilatory defect
HP:0002100	Recurrent aspiration pneumonia
HP:0002174	Postural tremor
HP:0002460	Distal muscle weakness
HP:0002465	Poor speech
HP:0002505	Loss of ambulation
HP:0002705	High, narrow palate
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003458	EMG: myopathic abnormalities
HP:0003557	Increased variability in muscle fiber diameter

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST002598_15	Educational attainment	7.000000e-08
GCST005956_10	Waist-to-hip ratio adjusted for BMI	6.000000e-08
GCST005958_11	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-07
GCST005962_22	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-08
GCST90020024_449	A body shape index	6.000000e-13
GCST90020024_450	A body shape index	5.000000e-12
GCST90020025_421	Waist-to-hip ratio adjusted for BMI	7.000000e-17
GCST90020025_422	Waist-to-hip ratio adjusted for BMI	8.000000e-12
GCST90020025_423	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90020025_424	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_425	Waist-to-hip ratio adjusted for BMI	2.000000e-18
GCST90020027_1221	Waist-hip index	6.000000e-17
GCST90020027_1222	Waist-hip index	3.000000e-12
GCST90020027_1223	Waist-hip index	5.000000e-08
GCST90020027_1224	Waist-hip index	3.000000e-09
GCST90020027_1225	Waist-hip index	2.000000e-18
GCST90020029_371	Waist circumference adjusted for body mass index	1.000000e-13
GCST90020029_372	Waist circumference adjusted for body mass index	3.000000e-10
GCST90020029_373	Waist circumference adjusted for body mass index	1.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	3
Air Pollutants	affects expression, increases abundance, increases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, affects cotreatment	1
sulforaphane	increases expression	1
beta-methylcholine	affects expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, decreases expression	1
bisphenol S	decreases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	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
Decitabine	affects expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ketoconazole	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Niclosamide	increases expression	1
Ozone	affects expression, increases abundance	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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