CFAP92

Summary

CFAP92 (cilia and flagella associated protein 92 (putative), HGNC:29231) is a protein-coding gene on chromosome 3q21.3, encoding Uncharacterized protein CFAP92 (Q9ULG3).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 162 total — 5 likely-pathogenic
• GTEx eGene: eQTL in 23 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.96 (unconstrained)
• MANE Select transcript: NM_001394090
• Notable: 162 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29231
Approved symbol	CFAP92
Name	cilia and flagella associated protein 92 (putative)
Location	3q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43738, FAP92
Ensembl gene	ENSG00000114656
Ensembl biotype	protein_coding
Entrez	57501

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000645291

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 1, TSL 4: 2, TSL 5: 1

ENST00000645291, ENST00000265068, ENST00000507225, ENST00000510149, ENST00000511204, ENST00000511438, ENST00000515659, ENST00000637488, ENST00000669741, ENST00001081917, ENST00001081918, ENST00001081919, ENST00001113478, ENST00001125681, ENST00001140241

RefSeq mRNA: 6 — MANE Select: NM_001394090 NM_001348520, NM_001348521, NM_001348522, NM_001348523, NM_001394090, NM_020741

CCDS: CCDS46905, CCDS87133, CCDS93370

Canonical transcript exons

ENST00000645291 — 16 exons

Exon	Start	End
ENSE00000778077	128993043	128993336
ENSE00001367608	128935125	128935319
ENSE00001370307	128915357	128915563
ENSE00001372457	128915119	128915275
ENSE00002042312	128909873	128910333
ENSE00002087056	128971287	128971433
ENSE00003533688	128988728	128988918
ENSE00003575486	128978045	128978185
ENSE00003579094	128976979	128977066
ENSE00003616840	128987616	128987829
ENSE00003652626	128975779	128975903
ENSE00003797375	128916107	128916271
ENSE00003799892	128932700	128932997
ENSE00003818400	128945071	128945975
ENSE00003820191	128965511	128965695
ENSE00003934509	128993980	128994076

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 88.30.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5833 / max 156.9402, expressed in 426 samples.

Highest expression (Bgee): testis, sperm, male germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, oocyte.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP92 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 23 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 24 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	6.5e-29	-0.91	3:128985447:A:T
Nerve Tibial	eqtl	7.3e-10	+0.36	3:128916083:C:T
Testis	eqtl	1.0e-09	+0.15	3:128985447:A:T
Skin Not Sun Exposed Suprapubic	eqtl	3.8e-06	-0.25	3:128923152:CAGG:C
Muscle Skeletal	eqtl	4.0e-06	-0.28	3:128924618:A:ATTT
Thyroid	eqtl	8.2e-06	+0.23	3:128930696:A:T
Skin Sun Exposed Lower leg	eqtl	4.1e-05	-0.22	3:128849359:C:A
Brain Nucleus accumbens basal ganglia	eqtl	4.8e-05	-0.44	3:128993689:C:T
Brain Cerebellum	eqtl	9.1e-05	+0.78	3:128851341:C:A
Artery Tibial	eqtl	1.0e-04	+0.24	3:128916083:C:T
Esophagus Mucosa	eqtl	2.3e-04	+0.23	3:128930696:A:T
Adipose Subcutaneous	eqtl	6.6e-04	-0.21	3:128943914:T:TCCC
Artery Aorta	eqtl	1.4e-03	-0.28	3:128947186:T:G
Brain Cerebellar Hemisphere	eqtl	2.4e-03	-0.38	3:128950809:C:T
Ovary	eqtl	3.1e-03	+1.89	3:129551863:C:T
Colon Transverse	eqtl	3.7e-03	+0.22	3:128930696:A:T
Brain Frontal Cortex BA9	eqtl	4.9e-03	-0.52	3:128993689:C:T
Pituitary	eqtl	5.5e-03	-0.18	3:128984859:G:A
Pancreas	eqtl	7.2e-03	-0.30	3:128951603:A:G
Adipose Visceral Omentum	eqtl	7.9e-03	-0.20	3:129025892:T:C

FANTOM5 promoters

7 alternative TSS:

Promoter ID	TPM avg	Samples expressed
44472	0.8568	259
44473	0.2824	114
44477	0.2299	98
44476	0.0633	23
44478	0.0576	17
44475	0.0539	25
44474	0.0395	13

Top tissues by expression

showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	88.30	gold quality
right testis	UBERON:0004534	87.66	gold quality
testis	UBERON:0000473	86.56	gold quality
sperm	CL:0000019	85.64	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.58	gold quality
secondary oocyte	CL:0000655	83.29	gold quality
oocyte	CL:0000023	81.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.03	gold quality
right uterine tube	UBERON:0001302	78.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	73.91	gold quality
blood	UBERON:0000178	73.15	gold quality
islet of Langerhans	UBERON:0000006	72.83	gold quality
colonic epithelium	UBERON:0000397	72.74	gold quality
bone marrow cell	CL:0002092	72.33	silver quality
adenohypophysis	UBERON:0002196	72.08	gold quality
pituitary gland	UBERON:0000007	71.69	gold quality
sural nerve	UBERON:0015488	70.32	gold quality
prefrontal cortex	UBERON:0000451	69.61	gold quality
right frontal lobe	UBERON:0002810	69.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	68.90	gold quality
mammary duct	UBERON:0001765	68.89	gold quality
calcaneal tendon	UBERON:0003701	68.21	gold quality
cerebellar hemisphere	UBERON:0002245	68.08	gold quality
hypothalamus	UBERON:0001898	68.01	gold quality
cerebellar cortex	UBERON:0002129	68.01	gold quality
nucleus accumbens	UBERON:0001882	67.96	gold quality
left ovary	UBERON:0002119	67.78	gold quality
skin of abdomen	UBERON:0001416	67.76	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.69	gold quality
lower esophagus mucosa	UBERON:0035834	67.59	gold quality
cortical plate	UBERON:0005343	67.57	gold quality
gall bladder	UBERON:0002110	67.25	gold quality
right lung	UBERON:0002167	67.20	gold quality
adrenal tissue	UBERON:0018303	67.19	gold quality
skin of leg	UBERON:0001511	66.93	gold quality
cerebellum	UBERON:0002037	66.44	gold quality
ventricular zone	UBERON:0003053	66.43	gold quality
right ovary	UBERON:0002118	66.41	gold quality
pancreas	UBERON:0001264	66.32	gold quality
anterior cingulate cortex	UBERON:0009835	66.28	gold quality
superficial temporal artery	UBERON:0001614	66.18	gold quality
caudate nucleus	UBERON:0001873	66.09	gold quality
ovary	UBERON:0000992	66.08	gold quality
bronchial epithelial cell	CL:0002328	65.40	gold quality
zone of skin	UBERON:0000014	65.19	gold quality
granulocyte	CL:0000094	65.04	gold quality
upper lobe of left lung	UBERON:0008952	65.01	gold quality
body of stomach	UBERON:0001161	64.75	gold quality
frontal cortex	UBERON:0001870	64.71	gold quality
upper lobe of lung	UBERON:0008948	64.70	gold quality
neocortex	UBERON:0001950	64.59	gold quality
bronchus	UBERON:0002185	64.27	gold quality
muscle of leg	UBERON:0001383	64.15	gold quality
gastrocnemius	UBERON:0001388	64.10	gold quality
fallopian tube	UBERON:0003889	64.00	gold quality
amygdala	UBERON:0001876	63.87	gold quality
stomach	UBERON:0000945	63.83	gold quality
leukocyte	CL:0000738	63.78	gold quality
spleen	UBERON:0002106	63.75	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.70	gold quality
putamen	UBERON:0001874	63.61	gold quality
rectum	UBERON:0001052	63.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	63.32	gold quality
esophagus mucosa	UBERON:0002469	63.19	gold quality
forebrain	UBERON:0001890	63.17	gold quality
stromal cell of endometrium	CL:0002255	63.15	gold quality
monocyte	CL:0000576	63.13	gold quality
body of pancreas	UBERON:0001150	63.12	gold quality
esophagus	UBERON:0001043	63.01	gold quality
brain	UBERON:0000955	62.92	gold quality
anatomical system	UBERON:0000467	62.90	gold quality
left lobe of thyroid gland	UBERON:0001120	62.82	gold quality
vermiform appendix	UBERON:0001154	62.73	gold quality
lower esophagus	UBERON:0013473	62.71	gold quality
buccal mucosa cell	CL:0002336	62.70	silver quality
lower esophagus muscularis layer	UBERON:0035833	62.67	gold quality
thyroid gland	UBERON:0002046	62.63	gold quality
material anatomical entity	UBERON:0000465	62.58	gold quality
multicellular organism	UBERON:0000468	62.56	gold quality
smooth muscle tissue	UBERON:0001135	62.51	gold quality
body of uterus	UBERON:0009853	62.44	gold quality
amniotic fluid	UBERON:0000173	62.23	gold quality
transverse colon	UBERON:0001157	62.22	gold quality
omental fat pad	UBERON:0010414	62.15	gold quality
peritoneum	UBERON:0002358	62.09	gold quality
oviduct epithelium	UBERON:0004804	62.09	silver quality
vagina	UBERON:0000996	62.06	gold quality
cerebral cortex	UBERON:0000956	61.93	gold quality
right lobe of thyroid gland	UBERON:0001119	61.93	gold quality
apex of heart	UBERON:0002098	61.92	gold quality
prostate gland	UBERON:0002367	61.92	gold quality
metanephros cortex	UBERON:0010533	61.90	gold quality
ganglionic eminence	UBERON:0004023	61.89	gold quality
embryo	UBERON:0000922	61.88	gold quality
ectocervix	UBERON:0012249	61.69	gold quality
lung	UBERON:0002048	61.57	gold quality
adipose tissue of abdominal region	UBERON:0007808	61.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	61.51	gold quality
endocervix	UBERON:0000458	61.28	gold quality
hindlimb stylopod muscle	UBERON:0004252	61.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.03

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Testis	tissue	20.6
Choroid plexus	tissue	20.0
Hippocampus	tissue	16.0
Nucleus accumbens	tissue	15.0
Periaqueductal gray	tissue	11.6
Locus coeruleus	tissue	11.5
Postcentral gyrus	tissue	10.9
Amygdala	tissue	8.8
Basal ganglia	tissue	8.0
Hippocampal formation	tissue	7.9
Septum	tissue	7.2
Hypothalamus	tissue	6.7
Cerebral cortex	tissue	6.6
Insular cortex	tissue	6.6
Occipital cortex	tissue	6.3
Retrosplenial and cingulate cortex	tissue	6.1
Temporal cortex	tissue	5.9
Somatosensory cortex	tissue	5.8
Prefrontal cortex	tissue	5.7
Retrosplenial cortex	tissue	5.6
Ventral forebrain	tissue	5.5
Entorhinal cortex	tissue	5.4
Motor cortex	tissue	4.9
Pituitary gland	tissue	4.1
Skin 1	tissue	4.1
Cerebellum	tissue	4.1
Pons	tissue	3.8
Thymus	tissue	3.8
Corpus callosum	tissue	3.7
Putamen	tissue	3.5
Fallopian tube	tissue	3.1
Thalamus	tissue	3.0
Medulla oblongata	tissue	2.9
Retina	tissue	2.7
Midbrain	tissue	2.7
Olfactory bulb	tissue	2.3
Ovary	tissue	2.0
Bone marrow	tissue	2.0
Parathyroid gland	tissue	1.6
Superior colliculi	tissue	1.6
Substantia nigra	tissue	1.6
Spinal cord	tissue	1.6
Gallbladder	tissue	1.3
Vagina	tissue	1.1
Esophagus	tissue	1.1
Placenta	tissue	1.1
Lung	tissue	1.1
Lymph node	tissue	1.0
Stomach 1	tissue	1.0
Spleen	tissue	1.0
Caudate putamen	tissue	1.0
Appendix	tissue	1.0
Pancreas	tissue	0.9
Prostate	tissue	0.9
Thyroid gland	tissue	0.8
Small intestine	tissue	0.8
Duodenum	tissue	0.8
Breast	tissue	0.7
Salivary gland	tissue	0.7
Rectum	tissue	0.7

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Periaquaductal grey, lateral (21.0), Vermis (18.7), Flocculonodular lobe (18.3), Dentate gyrus (18.2), Nucleus tractus solitarii (18.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP92 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

19 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-410-5P	96.55	66.28	459
HSA-MIR-323B-5P	96.12	66.39	472
HSA-MIR-6815-5P	96.05	65.55	662
HSA-MIR-6865-5P	96.05	65.58	675
HSA-MIR-494-5P	95.31	66.29	463
HSA-MIR-3679-5P	94.75	66.46	862
HSA-MIR-1185-5P	94.47	65.95	725

Functional genomics

gnomAD constraint: pLI 1.79e-22, LOEUF 0.959, missense Z 1.01 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000645291 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 1)

• The gain of function studies indicated that KIAA1257 activate NR5A1 gene expression. (PMID:18579725)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap92	ENSDARG00000052912
mus_musculus	Cfap92	ENSMUSG00000089997
rattus_norvegicus	Cfap92	ENSRNOG00000031408

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
GP9	protein-coding	2815
ACAD9	protein-coding	28976
EFCC1	protein-coding	79825
ACAD9-DT	ncRNA	123706524
ISY1-RAB43	protein-coding	100534599
RAB43	protein-coding	339122

Protein

Protein identifiers

Uncharacterized protein CFAP92 — Q9ULG3 (reviewed: Q9ULG3)

Alternative names: Putative cilia and flagella associated protein 92

All UniProt accessions (5): Q9ULG3, A0A1B0GVL5, A0A2R8YFM9, A0A590UJZ5, D6RH05

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULG3-1	1	yes
Q9ULG3-2	2

RefSeq proteins (6): NP_001335449, NP_001335450, NP_001335451, NP_001335452, NP_001381019, NP_065792 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027876	DUF4550	Domain

Pfam: PF15084

UniProt features (11 total): compositionally biased region 6, region of interest 3, chain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULG3-F1	57.39	0.09

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH uncertain

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: 17 (showing top): chr3q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, DLX6_TARGET_GENES, ZNF610_TARGET_GENES, MIR5688, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, MIR3605_5P, GAO_ESOPHAGUS_25W_C1_CILIATED_EPITHELIAL_CELLS, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LIVER_HEMATOPOIETIC_STEM_CELLS, ZNF623_TARGET_GENES, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_6H_ACT_CD4_TCELL_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_24H_ACT_CD4_TCELL_DN, GSE2706_LPS_VS_R848_AND_LPS_2H_STIM_DC_UP, GSE9509_LPS_VS_LPS_AND_IL10_STIM_IL10_KO_MACROPHAGE_30MIN_DN

Protein interactions and networks

STRING

showing 15 of 678 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP92	CCDC180	Q9P1Z9	591
CFAP92	LRRC72	A6NJI9	547
CFAP92	LHFPL7	Q6ICI0	525
CFAP92	TMEM221	A6NGB7	493
CFAP92	DLEC1	Q9Y238	477
CFAP92	SPAG17	Q6Q759	433
CFAP92	RNF39	Q9H2S5	430
CFAP92	SPATA17	Q96L03	430
CFAP92	SPAG6	O75602	398
CFAP92	TVP23A	A6NH52	386
CFAP92	CFAP221	Q4G0U5	374
CFAP92	C1D	Q13901	358
CFAP92	OVOL3	O00110	353
CFAP92	DCDC2B	A2VCK2	352
CFAP92	GPR137C	Q8N3F9	348

Disease & clinical

Genetic variants

Variant evidence for CFAP92: 162 ClinVar records (5 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	5
Uncertain significance	122
Likely benign	21
Benign	1

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1932297	NM_014049.5(ACAD9):c.1692+1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
242459	NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
432152	NM_014049.5(ACAD9):c.1693-2A>G	Likely pathogenic	criteria provided, single submitter	2
3240617	NM_014049.5(ACAD9):c.1799_1800del (p.Lys600fs)	Likely pathogenic	criteria provided, single submitter	1
3588368	NM_014049.5(ACAD9):c.1564-2A>G	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CFAP92’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 28 predictions of 1,912):

Position(s)	Effect	Δscore	Sites
3:128915347	donor_gain	1.0000
3:128915365	donor_gain	1.0000
3:128916105–128916106	donor_loss	1.0000	5
3:128916272–128916273	acceptor_loss	1.0000	6
3:128935123–128935124	donor_loss	1.0000	5
3:128935147	donor_gain	1.0000
3:128935320	acceptor_loss	1.0000	2
3:128965509–128965510	donor_loss	1.0000	5
3:128975832	donor_gain	1.0000
3:128935123	donor_loss	0.9900

AlphaMissense

423 missense substitutions predicted likely pathogenic (of 7,309 scored), across 123 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
D134	8	0.945	0.972
H118	8	0.858	0.975
W166	7	0.978	0.997
W163	7	0.973	0.996
W156	7	0.961	0.989
F138	7	0.952	0.983
W192	7	0.925	0.976
F145	7	0.916	0.979
H185	7	0.856	0.977
K143	6	0.927	0.984
P125	6	0.884	0.954
E120	6	0.881	0.930
F83	6	0.859	0.971
P386	6	0.812	0.925
K176	6	0.772	0.880
V164	6	0.752	0.974
C75	6	0.745	0.968
D127	6	0.733	0.831
Y121	5	0.939	0.988
F77	5	0.897	0.984

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Colon Adenocarcinoma (validation)	unfavorable	0.00015

Disease associations

OMIM: gene `` | disease phenotypes: MIM:611126

GenCC curated gene-disease

Mondo (1): acyl-CoA dehydrogenase 9 deficiency (MONDO:0012624)

Orphanet (1): Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)

GWAS associations

1 associations:

Study	Trait	p-value
GCST003649_7	Pneumococcal bacteremia	5e-7

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:1001925	pneumococcal bacteremia

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
C567006	Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	3
sotorasib	affects cotreatment, decreases expression	1
propionaldehyde	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	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	increases expression, affects cotreatment	1
trametinib	decreases expression, affects cotreatment	1
NVP-BKM120	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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