CFAP299

Summary

CFAP299 (cilia and flagella associated protein 299, HGNC:28554) is a protein-coding gene on chromosome 4q21.21, encoding Cilia- and flagella-associated protein 299 (Q6V702). May be involved in spermatogenesis.

Predicted to be located in cytoplasm.

Source: NCBI Gene 255119 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 15 total
• GTEx eGene: eQTL in 8 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.36 (unconstrained)
• MANE Select transcript: NM_152770

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28554
Approved symbol	CFAP299
Name	cilia and flagella associated protein 299
Location	4q21.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197826
Ensembl biotype	protein_coding
Entrez	255119

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding_CDS_not_defined, 2 protein_coding, 2 nonsense_mediated_decay

MANE Select: ENST00000358105

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 3, TSL 5: 1

ENST00000358105, ENST00000502497, ENST00000503883, ENST00000508314, ENST00000508675, ENST00000512931, ENST00000513920, ENST00000514249

RefSeq mRNA: 2 — MANE Select: NM_152770 NM_001206997, NM_152770

CCDS: CCDS3587, CCDS56336

Canonical transcript exons

ENST00000358105 — 6 exons

Exon	Start	End
ENSE00001410586	80944810	80944939
ENSE00001415278	80963517	80963750
ENSE00001685943	80335730	80335879
ENSE00003513146	80583093	80583183
ENSE00003585984	80869993	80870135
ENSE00003672667	80362754	80362884

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 96.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6459 / max 104.7445, expressed in 158 samples.

Highest expression (Bgee): bronchial epithelial cell, bronchus, sperm, buccal mucosa cell, testis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP299 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

11 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	2.8e-62	-0.55	4:80694034:T:C
Testis	sqtl	2.2e-19	+0.71	4:80639834:G:A
Brain Cerebellum	eqtl	3.1e-06	+1.77	4:80286532:G:GAGC
Brain Cerebellar Hemisphere	eqtl	5.7e-06	+1.47	4:80286532:G:GAGC
Lung	sqtl	6.9e-06	-0.46	4:80633422:C:A
Cells Cultured fibroblasts	eqtl	1.8e-05	+0.84	4:80286532:G:GAGC
Thyroid	eqtl	4.8e-04	+0.27	4:80850936:G:T
Brain Hippocampus	sqtl	2.3e-03	-0.67	4:80639834:G:A
Nerve Tibial	eqtl	3.4e-03	-0.27	4:80415641:T:C
Esophagus Muscularis	eqtl	1.4e-02	-0.22	4:80722462:G:T
Brain Hippocampus	eqtl	2.8e-02	-0.19	4:80984870:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
48535	0.6459	158

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	96.86	gold quality
bronchus	UBERON:0002185	94.36	gold quality
sperm	CL:0000019	93.31	gold quality
buccal mucosa cell	CL:0002336	91.30	silver quality
left testis	UBERON:0004533	88.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.60	gold quality
right uterine tube	UBERON:0001302	88.58	gold quality
right testis	UBERON:0004534	87.98	gold quality
testis	UBERON:0000473	86.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.43	gold quality
oviduct epithelium	UBERON:0004804	79.57	gold quality
fallopian tube	UBERON:0003889	75.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.24	gold quality
epithelium of nasopharynx	UBERON:0001951	73.66	gold quality
adult organism	UBERON:0007023	73.52	gold quality
stromal cell of endometrium	CL:0002255	68.11	gold quality
nasal cavity mucosa	UBERON:0001826	67.88	gold quality
corpus callosum	UBERON:0002336	65.53	gold quality
right lung	UBERON:0002167	64.75	gold quality
sural nerve	UBERON:0015488	64.42	gold quality
nasal cavity epithelium	UBERON:0005384	64.11	silver quality
cerebellar cortex	UBERON:0002129	63.58	gold quality
cerebellar hemisphere	UBERON:0002245	63.43	gold quality
ventricular zone	UBERON:0003053	62.29	gold quality
cerebellum	UBERON:0002037	61.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.71	gold quality
caput epididymis	UBERON:0004358	61.50	gold quality
left uterine tube	UBERON:0001303	59.78	gold quality
hypothalamus	UBERON:0001898	57.14	gold quality
oocyte	CL:0000023	57.03	silver quality
lower esophagus muscularis layer	UBERON:0035833	55.61	gold quality
lower esophagus	UBERON:0013473	55.43	gold quality
tibialis anterior	UBERON:0001385	55.04	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
granulocyte	CL:0000094	54.16	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.09	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
Ammon’s horn	UBERON:0001954	53.41	gold quality
epithelial cell of pancreas	CL:0000083	53.30	gold quality
mucosa of stomach	UBERON:0001199	52.85	gold quality
endocervix	UBERON:0000458	52.66	gold quality
deltoid	UBERON:0001476	52.56	gold quality
lung	UBERON:0002048	52.29	gold quality
calcaneal tendon	UBERON:0003701	51.75	gold quality
thyroid gland	UBERON:0002046	51.73	gold quality
prefrontal cortex	UBERON:0000451	51.57	gold quality
left lobe of thyroid gland	UBERON:0001120	51.00	gold quality
upper lobe of left lung	UBERON:0008952	51.00	gold quality
endometrium	UBERON:0001295	50.80	gold quality
right lobe of thyroid gland	UBERON:0001119	50.55	gold quality
caudate nucleus	UBERON:0001873	50.53	gold quality
upper lobe of lung	UBERON:0008948	50.39	gold quality
myocardium	UBERON:0002349	50.25	gold quality
tibial nerve	UBERON:0001323	49.81	gold quality
adult mammalian kidney	UBERON:0000082	49.44	gold quality
cerebellar vermis	UBERON:0004720	48.93	gold quality
pancreatic ductal cell	CL:0002079	48.85	silver quality
kidney	UBERON:0002113	48.36	gold quality
frontal cortex	UBERON:0001870	48.22	gold quality
tendon	UBERON:0000043	48.20	gold quality
ileal mucosa	UBERON:0000331	48.05	silver quality
amygdala	UBERON:0001876	48.03	gold quality
neocortex	UBERON:0001950	47.69	gold quality
quadriceps femoris	UBERON:0001377	47.65	gold quality
right frontal lobe	UBERON:0002810	47.33	gold quality
gall bladder	UBERON:0002110	47.06	gold quality
cerebral cortex	UBERON:0000956	46.89	gold quality
brain	UBERON:0000955	46.77	gold quality
anterior cingulate cortex	UBERON:0009835	46.41	gold quality
tendon of biceps brachii	UBERON:0008188	45.61	gold quality
metanephros	UBERON:0000081	45.47	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
cortex of kidney	UBERON:0001225	45.33	gold quality
right ovary	UBERON:0002118	45.31	gold quality
metanephros cortex	UBERON:0010533	45.07	gold quality
forebrain	UBERON:0001890	45.06	gold quality
ovary	UBERON:0000992	44.75	gold quality
left ovary	UBERON:0002119	44.61	gold quality
muscle tissue	UBERON:0002385	44.49	gold quality
temporal lobe	UBERON:0001871	44.37	gold quality
smooth muscle tissue	UBERON:0001135	43.58	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
primary visual cortex	UBERON:0002436	43.52	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	43.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	43.39	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	43.26	gold quality
amniotic fluid	UBERON:0000173	43.19	gold quality
spinal cord	UBERON:0002240	43.13	gold quality
uterine cervix	UBERON:0000002	43.04	gold quality
thymus	UBERON:0002370	42.92	gold quality
skeletal muscle tissue	UBERON:0001134	42.72	gold quality
occipital lobe	UBERON:0002021	42.58	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
uterus	UBERON:0000995	42.56	gold quality
ganglionic eminence	UBERON:0004023	42.39	gold quality
lymph node	UBERON:0000029	42.09	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	5299.01
E-ANND-2	yes	3752.20
E-ANND-3	yes	10.21
E-MTAB-7381	no	67.62

HPA expression

RNA tissue specificity: Group enriched

51 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	25.6	high
Fallopian tube	tissue	18.6	high
Choroid plexus	tissue	6.0	medium
Periaqueductal gray	tissue	5.7
Hippocampal formation	tissue	4.8
Cerebral cortex	tissue	3.9	not detected
Occipital cortex	tissue	3.9
Somatosensory cortex	tissue	2.9
Entorhinal cortex	tissue	2.6
Medulla oblongata	tissue	2.5
Basal ganglia	tissue	2.4	not detected
Retrosplenial cortex	tissue	2.4
Pons	tissue	2.3
Septum	tissue	2.3
Temporal cortex	tissue	2.3
Substantia nigra	tissue	2.1
Amygdala	tissue	2.0
Hypothalamus	tissue	2.0
Caudate putamen	tissue	2.0
Thalamus	tissue	1.9
Superior colliculi	tissue	1.8
Prefrontal cortex	tissue	1.7
Putamen	tissue	1.6
Insular cortex	tissue	1.6
Motor cortex	tissue	1.4
Midbrain	tissue	1.4
Retrosplenial and cingulate cortex	tissue	1.4
Spinal cord	tissue	1.2
Hippocampus	tissue	1.2	not detected
Ventral forebrain	tissue	1.2
Nucleus accumbens	tissue	1.1
Corpus callosum	tissue	1.1
Frontal cortex	tissue	1.0
Lung	tissue	1.0	not detected
Locus coeruleus	tissue	0.9
Cerebellum	tissue	0.8	not detected
Olfactory bulb	tissue	0.8
Retina	tissue	0.7
Postcentral gyrus	tissue	0.7
Ovary	tissue	0.5	not detected
Thyroid gland	tissue	0.5	not detected
Cervix	tissue	0.4	not detected
Endometrium 1	tissue	0.2	low
Kidney	tissue	0.2	not detected
Pituitary gland	tissue	0.1
Lymph node	tissue	0.1	not detected
Breast	tissue	0.1	not detected
Gallbladder	tissue	0.1	not detected
Duodenum	tissue	0.1	not detected
Thymus	tissue	0.1
Nasopharynx	tissue	-1.0	medium

Brain sub-regions (HPA Brain Atlas): detected in 170; highest nTPM — Nucleus tractus solitarii (11.9), Periaquaductal grey, lateral (8.0), Cervical spinal cord, central gray (7.9), Periaquaductal grey, dorsal (6.5), Superior vestibular nucleus (5.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP299 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

11 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-5691	98.23	67.02	1335
HSA-MIR-6805-3P	98.23	67.02	1334
HSA-MIR-5088-5P	97.97	64.28	487

Functional genomics

gnomAD constraint: pLI 0.000975, LOEUF 1.36, missense Z 0.199 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000358105 — one region, missense o/e 1.12.

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap299	ENSDARG00000088753
mus_musculus	Cfap299	ENSMUSG00000057816
rattus_norvegicus	Cfap299	ENSRNOG00000067409
drosophila_melanogaster	CG3528	FBGN0031430
drosophila_melanogaster	CG14013	FBGN0031720
drosophila_melanogaster	CG14017	FBGN0031721
drosophila_melanogaster	CG8138	FBGN0038122

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1916571) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased heart weight	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q2YDG2	87.1%	Diamond
Xenopus laevis	Q5PQ44	75.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CFAP299-AS1	ncRNA	105377305
FGF5	protein-coding	2250
BMP3	protein-coding	651
PRKG2-AS2	ncRNA	124900726
PRKG2	protein-coding	5593
PRKG2-AS1	ncRNA	101928942
PRDM8-AS1	ncRNA	105377303
PRDM8	protein-coding	56978
RASGEF1B	protein-coding	153020

Protein

Protein identifiers

Cilia- and flagella-associated protein 299 — Q6V702 (reviewed: Q6V702)

All UniProt accessions (3): E7EPK2, G5E9Y8, Q6V702

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in spermatogenesis.

Subcellular location. Cytoplasm. Nucleus.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6V702-2	2	yes
Q6V702-1	1
Q6V702-3	3

RefSeq proteins (2): NP_001193926, NP_689983* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027887	DUF4464	Family

Pfam: PF14713

UniProt features (23 total): strand 9, splice variant 3, helix 3, sequence conflict 3, turn 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
9FGP	cilia and flagella associated protein 299	X-RAY DIFFRACTION	1.49
8J07	96nm repeat of human respiratory doublet microtubule and associated axonemal complexes	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6V702-F1	87.40	0.53

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; plasma membrane

Antibody reliability (HPA): IH approved · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 50 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, WHN_B, chr4q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, HOXB4_TARGET_GENES, MAFG_TARGET_GENES, PAX3_TARGET_GENES, PAX7_TARGET_GENES, PRDM12_TARGET_GENES, ZNF22_TARGET_GENES, ZNF577_TARGET_GENES, ZNF781_TARGET_GENES, MIR4795_3P, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

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

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

4 GO namespaces:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 1,353 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP299	CFAP96	A7E2U8	546
CFAP299	SHISA3	A0PJX4	536
CFAP299	TMEM33	P57088	530
CFAP299	CFAP97D2	A0A1B0GU71	523
CFAP299	ANTXR2	P58335	518
CFAP299	ACOXL	Q9NUZ1	515
CFAP299	SLC30A9	Q6PML9	512
CFAP299	C4orf36	Q96KX1	504
CFAP299	TEX9	Q8N6V9	485
CFAP299	TMX4	Q9H1E5	471
CFAP299	CFAP184	Q2M329	464
CFAP299	CFAP97D1	B2RV13	450
CFAP299	KAZN	Q674X7	415
CFAP299	SHROOM4	Q9ULL8	411
CFAP299	MAGEL2	Q9UJ55	410

IntAct

Human interaction partners of CFAP299 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
NFE2L2	physical association	0.510	3
UBB	association	0.350	1

Disease & clinical

Genetic variants

Variant evidence for CFAP299: 15 ClinVar records (0 pathogenic / likely pathogenic); 15 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	4
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 2,222):

Position(s)	Effect	Δscore	Sites
4:80362752–80362753	acceptor_loss	1.0000	2
4:80362885–80362886	donor_loss	1.0000	4
4:80500311	donor_gain	1.0000
4:80583091–80583092	acceptor_loss	1.0000	6
4:80583184–80583185	donor_loss	1.0000	5
4:80869982	acceptor_gain	1.0000
4:80335880–80335881	donor_loss	0.9900	5
4:80362752–80362753	acceptor_loss	0.9900	3
4:80362838	donor_gain	0.9900
4:80474276	acceptor_gain	0.9900

AlphaMissense

549 missense substitutions predicted likely pathogenic (of 1,536 scored), across 144 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D157	8	0.971	0.985
D131	8	0.958	0.979
D32	8	0.948	0.966
D193	8	0.919	0.964
F62	8	0.912	0.990
H227	8	0.907	0.964
D226	8	0.903	0.956
F188	8	0.828	0.989
F141	8	0.823	0.958
F115	7	0.965	0.989
F145	7	0.942	0.979
E102	7	0.938	0.977
R135	7	0.934	0.984
W163	7	0.922	0.969
F225	7	0.910	0.972
F17	7	0.900	0.990
F23	7	0.887	0.971
F160	7	0.856	0.983
D38	7	0.774	0.873
D25	7	0.704	0.839

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

15 associations:

Study	Trait	p-value
GCST90000025_953	Appendicular lean mass	1e-22
GCST000394_1	Diastolic blood pressure	1e-21
GCST006291_115	Spherical equivalent or myopia (age of diagnosis)	6e-21
GCST006988_48	Blond vs. brown/black hair color	4e-14
GCST90014268_32	Cataracts	3e-12
GCST006976_73	Macular thickness	9e-11
GCST006661_203	Male-pattern baldness	2e-9
GCST006291_127	Spherical equivalent or myopia (age of diagnosis)	3e-8
GCST003075_116	Cognitive decline rate in late mild cognitive impairment	5e-7
GCST003075_29	Cognitive decline rate in late mild cognitive impairment	8e-7
GCST008596_6	Opioid overdose severity score	1e-6
GCST001762_696	Obesity-related traits	4e-6
GCST008361_8	Response to cognitive-behavioural therapy in major depressive disorder	5e-6
GCST009959_10	Retinal detachment or retinal break	5e-6
GCST008596_3	Opioid overdose severity score	9e-6

EFO canonical traits (from GWAS)

9 canonical traits:

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0004620	vitamin B12 measurement
EFO:0007710	cognitive decline measurement
EFO:0004847	age at onset
EFO:0003924	hair color
EFO:0007820	cognitive behavioural therapy
EFO:0010140	opioid overdose severity measurement
EFO:0010698	retinal break
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
bisphenol A	affects cotreatment, decreases methylation, increases methylation	1
aflatoxin B2	increases methylation	1
MT19c compound	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Lead	affects methylation	1
Smoke	increases abundance, increases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.