OVOL1

Summary

OVOL1 (ovo like transcriptional repressor 1, HGNC:8525) is a protein-coding gene on chromosome 11q13.1, encoding Putative transcription factor Ovo-like 1 (O14753). Putative transcription factor.

This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well.

Source: NCBI Gene 5017 — RefSeq curated summary.

At a glance

• GWAS associations: 49
• Clinical variants (ClinVar): 38 total
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_004561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8525
Approved symbol	OVOL1
Name	ovo like transcriptional repressor 1
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	HOVO1
Ensembl gene	ENSG00000172818
Ensembl biotype	protein_coding
OMIM	602313
Entrez	5017

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000335987, ENST00000531907, ENST00000532448, ENST00000907450

RefSeq mRNA: 1 — MANE Select: NM_004561 NM_004561

CCDS: CCDS8112

Canonical transcript exons

ENST00000335987 — 4 exons

Exon	Start	End
ENSE00001190835	65794538	65794727
ENSE00001337155	65787063	65787473
ENSE00001344446	65795046	65797214
ENSE00001344451	65794031	65794248

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 96.60.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5767 / max 153.6737, expressed in 459 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115208	2.7980	418
115209	1.7134	302
115213	0.0230	8
115210	0.0168	3
115212	0.0138	3
115211	0.0118	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	96.60	gold quality
upper leg skin	UBERON:0004262	96.47	gold quality
esophagus squamous epithelium	UBERON:0006920	95.95	gold quality
gingiva	UBERON:0001828	95.61	gold quality
pharyngeal mucosa	UBERON:0000355	95.14	gold quality
lower esophagus mucosa	UBERON:0035834	94.83	gold quality
amniotic fluid	UBERON:0000173	92.33	gold quality
penis	UBERON:0000989	92.26	gold quality
esophagus mucosa	UBERON:0002469	91.49	gold quality
skin of abdomen	UBERON:0001416	91.38	gold quality
oral cavity	UBERON:0000167	91.36	gold quality
squamous epithelium	UBERON:0006914	91.35	gold quality
epithelium of esophagus	UBERON:0001976	91.15	gold quality
sperm	CL:0000019	90.80	gold quality
left testis	UBERON:0004533	89.84	gold quality
right testis	UBERON:0004534	89.52	gold quality
skin of leg	UBERON:0001511	89.47	gold quality
zone of skin	UBERON:0000014	89.24	gold quality
nipple	UBERON:0002030	88.61	gold quality
male germ cell	CL:0000015	88.23	gold quality
colonic mucosa	UBERON:0000317	88.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	87.98	gold quality
jejunal mucosa	UBERON:0000399	87.65	gold quality
skin of hip	UBERON:0001554	87.02	gold quality
testis	UBERON:0000473	86.93	gold quality
mucosa of transverse colon	UBERON:0004991	86.86	gold quality
mammalian vulva	UBERON:0000997	86.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.12	gold quality
body of tongue	UBERON:0011876	83.05	gold quality
buccal mucosa cell	CL:0002336	82.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets.

Target	Regulation
CDH2
CHUK
GADD45A
GADD45B
ID2
LEMD3
MYC	Repression
OVOL1	Repression
OVOL2	Repression
SGK1

JASPAR motifs

Motif	Name	Family
MA1544.1	OVOL1	More than 3 adjacent zinc fingers
MA1544.2	OVOL1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:26504231

Upstream regulators (CollecTRI, top): IRF6, LEF1, MYB, MYC, NEUROG3, OVOL1

miRNA regulators (miRDB)

71 targeting OVOL1, 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-8485	100.00	77.57	4731
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-3163	100.00	77.23	8605
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1284	99.67	73.56	1353

Literature-anchored findings (GeneRIF, showing 13)

• Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions in humans and other species (PMID:22737237)
• Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients (PMID:23278845)
• OVOL1 may play an important role in human skin morphogenesis and tumorigenesis. (PMID:25509883)
• KIF3A and OVOL1 are involved in the development of Atopic dermatitis in the Chinese pediatric population. (PMID:26127003)
• OVOL1 is a regulator of trophoblast progenitor cell fate during human trophoblast development. (PMID:26504231)
• that the OVOL1-OVOL2 axis may actively contribute to cell differentiation and proliferation in the hair bulb (PMID:26873447)
• Taken together, this study suggests that the OVOL1-OVOL2 axis is a key modulator of c-Myc expression in the shift from in situ epidermal malignancy (Bowen’s disease) to invasive squamous cell carcinoma. (PMID:28339425)
• OVOL1 is an integral part of the aryl hydrocarbon receptor-mediated mechanism of Filaggrin expression in human keratinocytes. (PMID:28703805)
• The transcription factor OVOL1 as a potential regulator of an alternative epithelial cell fate. (PMID:30639212)
• OVOL1 Regulates Psoriasis-Like Skin Inflammation and Epidermal Hyperplasia. (PMID:33333123)
• Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population. (PMID:35078690)
• OVOL1 inhibits breast cancer cell invasion by enhancing the degradation of TGF-beta type I receptor. (PMID:35484112)
• Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis. (PMID:38907248)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ovol1	ENSMUSG00000024922
rattus_norvegicus	Ovol1	ENSRNOG00000020669
drosophila_melanogaster	ovo	FBGN0003028

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Protein

Protein identifiers

Putative transcription factor Ovo-like 1 — O14753 (reviewed: O14753)

All UniProt accessions (2): O14753, G3V1B0

UniProt curated annotations — full annotation on UniProt →

Function. Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system.

Subcellular location. Nucleus.

Tissue specificity. Expressed in fetal kidney, and also in adult pancreas and placenta. Not expressed in intestine, peripheral blood lymphocytes and ovary.

RefSeq proteins (1): NP_004552* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR027756	Ovo-like	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13465

UniProt features (6 total): zinc finger region 4, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14753-F1	60.86	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): RNGTGGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCANCTGNY_MYOD_Q6, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, CHX10_01, chr11q13

GO Biological Process (15): kidney development (GO:0001822), regulation of transcription by RNA polymerase II (GO:0006357), spermatogenesis (GO:0007283), mesoderm development (GO:0007498), epidermal cell differentiation (GO:0009913), negative regulation of keratinocyte proliferation (GO:0010839), skin development (GO:0043588), keratinocyte proliferation (GO:0043616), meiotic cell cycle phase transition (GO:0044771), germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729), stem cell proliferation (GO:0072089), negative regulation of meiotic cell cycle phase transition (GO:1901994), negative regulation of stem cell proliferation (GO:2000647), negative regulation of transcription by RNA polymerase II (GO:0000122), epidermis development (GO:0008544)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
animal organ development	2
transcription by RNA polymerase II	2
tissue development	2
regulation of transcription by RNA polymerase II	2
renal system development	1
regulation of DNA-templated transcription	1
developmental process involved in reproduction	1
male gamete generation	1
epidermis development	1
epithelial cell differentiation	1
regulation of keratinocyte proliferation	1
keratinocyte proliferation	1
negative regulation of epithelial cell proliferation	1
epithelial cell proliferation	1
cell cycle phase transition	1
meiotic cell cycle	1
meiotic cell cycle process	1
cell cycle switching, mitotic to meiotic cell cycle	1
cell population proliferation	1
stem cell division	1
meiotic cell cycle phase transition	1
negative regulation of meiotic cell cycle	1
negative regulation of cell cycle phase transition	1
regulation of meiotic cell cycle phase transition	1
negative regulation of cell population proliferation	1
stem cell proliferation	1
regulation of stem cell proliferation	1
negative regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1

Protein interactions and networks

STRING

989 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OVOL1	ACTL9	Q8TC94	620
OVOL1	IRF6	O14896	618
OVOL1	GRHL3	Q8TE85	611
OVOL1	GRHL2	Q6ISB3	583
OVOL1	FLG	P20930	507
OVOL1	LORICRIN	P23490	474
OVOL1	AP5B1	Q2VPB7	467
OVOL1	ZNF750	Q32MQ0	462
OVOL1	GRHL1	Q9NZI5	461
OVOL1	ESRP1	Q6NXG1	451
OVOL1	RIPK4	P57078	437
OVOL1	FLG2	Q5D862	418
OVOL1	OR10A3	P58181	400
OVOL1	PUS7	Q96PZ0	398
OVOL1	HOMER3	Q9NSC5	393

IntAct

11 interactions, top by confidence:

A	B	Type	Score
OVOL1	SUFU	psi-mi:“MI:0915”(physical association)	0.640
OVOL1	FAM90A1	psi-mi:“MI:0915”(physical association)	0.560
OVOL1	LMNB2	psi-mi:“MI:0915”(physical association)	0.560
MAFF	OVOL1	psi-mi:“MI:0915”(physical association)	0.370
OVOL1	ARID3B	psi-mi:“MI:0914”(association)	0.350
FAM90A1	OVOL1	psi-mi:“MI:0915”(physical association)	0.000
LMNB2	OVOL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): SUFU (Affinity Capture-MS), OVOL1 (Two-hybrid), LMNB2 (Two-hybrid), OVOL1 (Affinity Capture-RNA), ARID3B (Affinity Capture-MS), SUFU (Affinity Capture-MS), OVOL1 (Affinity Capture-Western), SMAD7 (Affinity Capture-Western), OVOL1 (Affinity Capture-RNA), HDAC1 (Affinity Capture-Western), OVOL1 (Affinity Capture-Western), OVOL1 (Affinity Capture-Western), OVOL1 (Affinity Capture-Western), HDAC2 (Affinity Capture-Western), HDAC3 (Affinity Capture-Western)

ESM2 similar proteins: A1L2U9, A2APF3, A2BID7, A2VDT4, B1WAZ8, B1WBU4, G5E869, O08961, O14753, O43298, Q05516, Q0IH98, Q0VCJ6, Q13422, Q2I689, Q2M1K9, Q3U288, Q58NQ5, Q5NBY9, Q5TC79, Q5U2T6, Q6DJT9, Q6NS86, Q6ZPY5, Q80TS5, Q86UZ6, Q8BHZ4, Q8C208, Q8CCH7, Q8CIV7, Q8K0L9, Q8N1W2, Q8N895, Q8NCN2, Q8WW38, Q90W33, Q92610, Q96BR9, Q9BRP0, Q9BYN7

Diamond homologs: A2VDT4, D3YYM0, G5EDU6, O00110, O14753, P51521, Q8CIV7, Q9BRP0, Q9WTJ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

431 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65787473:GGT:G	donor_loss	1.0000
11:65787475:T:A	donor_loss	1.0000
11:65794029:A:AG	acceptor_gain	1.0000
11:65794030:G:GG	acceptor_gain	1.0000
11:65794030:GTCA:G	acceptor_gain	1.0000
11:65794249:GTAAT:G	donor_loss	1.0000
11:65794723:CACTG:C	donor_gain	1.0000
11:65794724:ACTG:A	donor_gain	1.0000
11:65794725:CTG:C	donor_gain	1.0000
11:65794725:CTGG:C	donor_loss	1.0000
11:65794726:TG:T	donor_gain	1.0000
11:65794726:TGGTA:T	donor_loss	1.0000
11:65794727:GG:G	donor_gain	1.0000
11:65794728:G:GG	donor_gain	1.0000
11:65794728:GTAA:G	donor_loss	1.0000
11:65794729:T:A	donor_loss	1.0000
11:65795040:CCACA:C	acceptor_loss	1.0000
11:65795041:CACA:C	acceptor_loss	1.0000
11:65795043:CA:C	acceptor_loss	1.0000
11:65795044:A:AG	acceptor_gain	1.0000
11:65795044:AG:A	acceptor_gain	1.0000
11:65795044:AGGC:A	acceptor_gain	1.0000
11:65795045:G:GA	acceptor_gain	1.0000
11:65795045:GG:G	acceptor_gain	1.0000
11:65795045:GGC:G	acceptor_gain	1.0000
11:65795045:GGCG:G	acceptor_gain	1.0000
11:65795045:GGCGT:G	acceptor_gain	1.0000
11:65787469:GCCAG:G	donor_gain	0.9900
11:65787474:G:GG	donor_gain	0.9900
11:65794026:CCCA:C	acceptor_loss	0.9900

AlphaMissense

1759 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65794598:T:C	F127L	1.000
11:65794600:C:A	F127L	1.000
11:65794600:C:G	F127L	1.000
11:65795084:T:C	F183L	1.000
11:65795086:C:A	F183L	1.000
11:65795086:C:G	F183L	1.000
11:65794577:T:C	C120R	0.999
11:65794586:T:C	C123R	0.999
11:65794599:T:C	F127S	0.999
11:65794617:T:C	L133P	0.999
11:65794623:G:C	R135P	0.999
11:65794627:C:A	H136Q	0.999
11:65794627:C:G	H136Q	0.999
11:65794661:T:C	C148R	0.999
11:65794682:T:C	F155L	0.999
11:65794684:C:A	F155L	0.999
11:65794684:C:G	F155L	0.999
11:65795063:T:C	C176R	0.999
11:65795085:T:C	F183S	0.999
11:65795111:C:G	H192D	0.999
11:65795113:C:A	H192Q	0.999
11:65795113:C:G	H192Q	0.999
11:65795115:T:C	L193P	0.999
11:65794579:C:G	C120W	0.998
11:65794586:T:A	C123S	0.998
11:65794587:G:A	C123Y	0.998
11:65794587:G:C	C123S	0.998
11:65794588:C:G	C123W	0.998
11:65794598:T:A	F127I	0.998
11:65794625:C:A	H136N	0.998

dbSNP variants (sampled 300 via entrez): RS1000481820 (11:65793117 A>G,T), RS1000495589 (11:65792248 G>A), RS1000547189 (11:65791993 G>C), RS1000565625 (11:65792919 C>A,T), RS1000762070 (11:65796733 A>T), RS1000829596 (11:65795581 A>C), RS1001061364 (11:65786733 G>A), RS1001089578 (11:65797044 G>A), RS1001222322 (11:65791939 T>C), RS1001506862 (11:65793489 G>A), RS1001513960 (11:65786492 T>C), RS1001833519 (11:65787782 G>T), RS1001845195 (11:65785870 G>A), RS1001906473 (11:65787249 G>A), RS1001938764 (11:65792322 G>A)

Disease associations

OMIM: gene MIM:602313 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

49 associations (top):

Study	Trait	p-value
GCST000649_13	Chronic kidney disease	1.000000e-07
GCST001363_1	Atopic dermatitis	1.000000e-13
GCST001709_4	Atopic dermatitis	6.000000e-07
GCST001791_43	Urate levels	3.000000e-13
GCST001937_15	Breast cancer	9.000000e-12
GCST002058_5	DNA methylation (variation)	2.000000e-07
GCST002481_8	Acne (severe)	3.000000e-11
GCST003155_31	Systemic lupus erythematosus	2.000000e-06
GCST003180_5	Atopic march	4.000000e-10
GCST003184_25	Atopic dermatitis	2.000000e-18
GCST003184_31	Atopic dermatitis	2.000000e-19
GCST005038_72	Allergic disease (asthma, hay fever or eczema)	2.000000e-13
GCST005790_23	Rosacea symptom severity	1.000000e-08
GCST006192_34	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-08
GCST006192_68	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-09
GCST006195_31	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-09
GCST006195_61	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-09
GCST006408_13	Allergic sensitization	3.000000e-07
GCST006988_109	Blond vs. brown/black hair color	3.000000e-14
GCST007234_16	Acne (severe)	5.000000e-13
GCST007234_17	Acne (severe)	3.000000e-11
GCST007400_57	Systemic lupus erythematosus	3.000000e-06
GCST007725_41	Serum uric acid levels	1.000000e-24
GCST007797_55	Asthma onset (childhood vs adult)	5.000000e-08
GCST007798_130	Asthma	3.000000e-14
GCST007800_77	Asthma (childhood onset)	3.000000e-23
GCST007928_102	Medication use (diuretics)	4.000000e-08
GCST007994_17	Asthma (age of onset)	1.000000e-06
GCST007995_33	Asthma (childhood onset)	1.000000e-11
GCST008747_108	Estimated glomerular filtration rate	7.000000e-25

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0022599	DNA methylation
EFO:0007755	atopic march
EFO:0009180	rosacea severity measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0005298	allergic sensitization measurement
EFO:0003924	hair color
EFO:0004761	uric acid measurement
EFO:0004847	age at onset
EFO:0009928	Diuretic use measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0005193	serum IgG glycosylation measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

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	affects cotreatment, increases expression, increases methylation	5
sodium arsenite	decreases expression, decreases methylation, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression, affects methylation	3
mercuric bromide	increases expression, affects cotreatment	2
bisphenol S	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	increases abundance, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression, decreases reaction	2
bisphenol A	affects cotreatment, increases expression	1
sodium arsenate	decreases expression, increases abundance	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
perfluorooctanoic acid	increases expression, affects cotreatment	1
hydroquinone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, 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
dorsomorphin	affects cotreatment, increases expression	1
tapinarof	decreases expression, decreases reaction, increases abundance	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Dust	decreases expression, increases abundance, decreases reaction	1
Endosulfan	increases expression	1
Estradiol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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