SLITRK6

Summary

SLITRK6 (SLIT and NTRK like family member 6, HGNC:23503) is a protein-coding gene on chromosome 13q31.1, encoding SLIT and NTRK-like protein 6 (Q9H5Y7). Regulator of neurite outgrowth required for normal hearing and vision.

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness.

Source: NCBI Gene 84189 — RefSeq curated summary.

At a glance

• Gene–disease (curated): high myopia-sensorineural deafness syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 306 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 5
• MANE Select transcript: NM_032229

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23503
Approved symbol	SLITRK6
Name	SLIT and NTRK like family member 6
Location	13q31.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22774
Ensembl gene	ENSG00000184564
Ensembl biotype	protein_coding
OMIM	609681
Entrez	84189

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000643778, ENST00000645642, ENST00000647374

RefSeq mRNA: 1 — MANE Select: NM_032229 NM_032229

CCDS: CCDS41903

Canonical transcript exons

ENST00000647374 — 2 exons

Exon	Start	End
ENSE00003817151	85798914	85799419
ENSE00003843780	85792790	85796532

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 94.49.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7626 / max 97.5046, expressed in 376 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137773	0.5545	211
137772	0.5383	206
137770	0.3579	133
137771	0.2752	123
137769	0.0367	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	94.49	gold quality
bronchus	UBERON:0002185	93.98	gold quality
urethra	UBERON:0000057	90.41	gold quality
ileal mucosa	UBERON:0000331	88.59	gold quality
nasal cavity epithelium	UBERON:0005384	85.97	gold quality
upper arm skin	UBERON:0004263	85.74	silver quality
urinary bladder	UBERON:0001255	84.64	gold quality
nasal cavity mucosa	UBERON:0001826	84.41	gold quality
trachea	UBERON:0003126	83.92	gold quality
minor salivary gland	UBERON:0001830	83.62	gold quality
saliva-secreting gland	UBERON:0001044	83.53	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.93	gold quality
pancreatic ductal cell	CL:0002079	81.84	silver quality
jejunal mucosa	UBERON:0000399	81.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.30	gold quality
mouth mucosa	UBERON:0003729	81.04	gold quality
palpebral conjunctiva	UBERON:0001812	79.81	gold quality
mucosa of sigmoid colon	UBERON:0004993	79.56	gold quality
rectum	UBERON:0001052	79.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.16	gold quality
colonic mucosa	UBERON:0000317	78.30	gold quality
duodenum	UBERON:0002114	76.19	gold quality
epithelial cell of pancreas	CL:0000083	75.84	silver quality
mammary duct	UBERON:0001765	75.77	gold quality
epithelium of mammary gland	UBERON:0003244	75.77	gold quality
nipple	UBERON:0002030	75.45	gold quality
calcaneal tendon	UBERON:0003701	74.68	gold quality
amniotic fluid	UBERON:0000173	74.56	gold quality
esophagus squamous epithelium	UBERON:0006920	74.13	gold quality
parotid gland	UBERON:0001831	74.07	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	382.43
E-GEOD-83139	yes	256.01
E-ENAD-27	yes	178.11
E-MTAB-5061	yes	17.51
E-GEOD-81608	yes	11.55
E-ANND-3	yes	11.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1

miRNA regulators (miRDB)

136 targeting SLITRK6, 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-3064-3P	100.00	70.09	1254
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4682	100.00	68.89	1258
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10527-5P	99.91	72.28	3754

Literature-anchored findings (GeneRIF, showing 7)

• SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness. (PMID:23543054)
• SLITRK6 gene nonsense mutation is associated with progressive auditory neuropathy in humans. (PMID:23946138)
• Human cytomegalovirus downregulates SLITRK6 expression through IE2. (PMID:27530937)
• Analysis of two exons of SLITRK6 gene in a Moroccan family identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations. (PMID:29551497)
• The role of SLITRK6 in the pathogenesis of Tourette syndrome: From the conclusion of a family-based study in the Chinese Han population. (PMID:32037697)
• SLITRK6 promotes the progression of lung adenocarcinoma by regulating PI3K/AKT/mTOR signaling and Warburg effect. (PMID:37219677)
• Differential expression of SLITRK6 gene as a potential therapeutic target for urothelial carcinoma in particular upper tract cancer. (PMID:37353040)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slitrk6	ENSDARG00000098769
mus_musculus	Slitrk6	ENSMUSG00000045871
rattus_norvegicus	Slitrk6	ENSRNOG00000022337

Paralogs (25): SLITRK3 (ENSG00000121871), LRFN3 (ENSG00000126243), LRFN1 (ENSG00000128011), SLIT2 (ENSG00000145147), LRFN2 (ENSG00000156564), LRRC38 (ENSG00000162494), SLITRK5 (ENSG00000165300), LRFN5 (ENSG00000165379), LRTM2 (ENSG00000166159), LINGO1 (ENSG00000169783), LRRN2 (ENSG00000170382), LRRN3 (ENSG00000173114), LRFN4 (ENSG00000173621), LINGO2 (ENSG00000174482), LRRN1 (ENSG00000175928), SLITRK1 (ENSG00000178235), GP5 (ENSG00000178732), SLITRK4 (ENSG00000179542), LRRC55 (ENSG00000183908), SLIT3 (ENSG00000184347), SLITRK2 (ENSG00000185985), LRRC70 (ENSG00000186105), SLIT1 (ENSG00000187122), TLR9 (ENSG00000239732), TPBGL (ENSG00000261594)

Protein

Protein identifiers

SLIT and NTRK-like protein 6 — Q9H5Y7 (reviewed: Q9H5Y7)

All UniProt accessions (1): Q9H5Y7

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of neurite outgrowth required for normal hearing and vision.

Subcellular location. Cell membrane.

Tissue specificity. In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroectodermal tumors.

Disease relevance. Deafness and myopia (DFNMYP) [MIM:221200] An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SLITRK family.

RefSeq proteins (1): NP_115605* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily

Pfam: PF13855

UniProt features (23 total): repeat 11, domain 4, sequence variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H5Y7-F1	67.63	0.26

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-388844	Receptor-type tyrosine-protein phosphatases
R-HSA-112316	Neuronal System
R-HSA-6794362	Protein-protein interactions at synapses

MSigDB gene sets: 211 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, WANG_CLIM2_TARGETS_UP, GOBP_BEHAVIOR, GOBP_SYNAPSE_ASSEMBLY, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_ADULT_BEHAVIOR, GOZGIT_ESR1_TARGETS_DN, AAGCCAT_MIR135A_MIR135B, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_GROWTH, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, FOXO1_01

GO Biological Process (19): startle response (GO:0001964), lens development in camera-type eye (GO:0002088), auditory receptor cell morphogenesis (GO:0002093), axonogenesis (GO:0007409), synapse assembly (GO:0007416), visual perception (GO:0007601), sensory perception of sound (GO:0007605), adult locomotory behavior (GO:0008344), vestibulocochlear nerve development (GO:0021562), auditory behavior (GO:0031223), multicellular organism growth (GO:0035264), positive regulation of synapse assembly (GO:0051965), linear vestibuloocular reflex (GO:0060007), innervation (GO:0060384), cochlea development (GO:0090102), inner ear morphogenesis (GO:0042472), camera-type eye development (GO:0043010), neuron projection morphogenesis (GO:0048812), vestibular reflex (GO:0060005)

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

GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Protein-protein interactions at synapses	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
anatomical structure development	2
embryonic morphogenesis	2
cell morphogenesis involved in neuron differentiation	2
multicellular organismal process	2
inner ear development	2
response to external stimulus	1
neuromuscular process	1
camera-type eye development	1
inner ear morphogenesis	1
auditory receptor cell development	1
neuron projection morphogenesis	1
axon development	1
nervous system development	1
cell junction assembly	1
synapse organization	1
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
locomotory behavior	1
adult behavior	1
cranial nerve development	1
mechanosensory behavior	1
response to auditory stimulus	1
developmental growth	1
synapse assembly	1
positive regulation of nervous system development	1
regulation of synapse assembly	1
positive regulation of cell junction assembly	1
vestibular reflex	1
nerve development	1
ear morphogenesis	1
eye development	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
reflex	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLITRK6	NTRK1	P04629	554
SLITRK6	ZNF646	O15015	470
SLITRK6	BDNF	P23560	467
SLITRK6	TRABD2B	A6NFA1	443
SLITRK6	ZNF618	Q5T7W0	429
SLITRK6	OTOG	Q6ZRI0	424
SLITRK6	PHACTR2	O75167	418
SLITRK6	MFAP5	Q13361	407
SLITRK6	SLC16A12	Q6ZSM3	405
SLITRK6	KLLN	B2CW77	404
SLITRK6	UPK1B	O75841	401
SLITRK6	OPN4	Q9UHM6	383
SLITRK6	PLAGL1	Q9UM63	382
SLITRK6	SHISA2	Q6UWI4	374
SLITRK6	IQCK	Q8N0W5	373
SLITRK6	NUS1	Q96E22	373

IntAct

6 interactions, top by confidence:

A	B	Type	Score
SLITRK6	H2BC5	psi-mi:“MI:0915”(physical association)	0.400
SLITRK6	CDC37	psi-mi:“MI:0915”(physical association)	0.400
SLITRK6	Iars2	psi-mi:“MI:0914”(association)	0.350
PCDHGC4		psi-mi:“MI:0914”(association)	0.350
SLITRK6	STK4	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): SLITRK6 (Proximity Label-MS), SLITRK6 (Positive Genetic), SLITRK6 (Proximity Label-MS), STK3 (Affinity Capture-MS), STK4 (Affinity Capture-MS), SLITRK6 (Affinity Capture-MS), PLEKHH3 (Affinity Capture-MS), PHLDB3 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), SAV1 (Affinity Capture-MS), PCDHGA9 (Affinity Capture-MS), SLITRK6 (Proximity Label-MS), SLITRK6 (Affinity Capture-MS)

ESM2 similar proteins: A0N0X6, B1H134, B1H234, D3ZAL8, D3ZTV3, F1NUK7, O43155, O94769, O94991, P28653, P58874, P70186, P79119, Q32Q07, Q3MHH9, Q3SXY7, Q504C1, Q5FW85, Q5R482, Q5R6T0, Q5R7M3, Q5RAC4, Q61809, Q6RKD8, Q6UXK5, Q70AK3, Q7TNJ4, Q80ZD9, Q810B7, Q810B8, Q810C0, Q810C1, Q86SJ2, Q86VH5, Q8BGT1, Q8BLU0, Q8BZ81, Q8C110, Q8CBC6, Q8IW52

Diamond homologs: A8WGA3, B1H134, B1H234, D3ZTV3, D4ABX8, F1NUK7, G5EFX6, O42235, O43155, O55226, O60938, O75093, O88279, O88280, O94769, O94991, P04629, P13224, P14770, P24014, P50608, P50609, P56400, P59383, P83503, Q04785, Q06828, Q3UHC2, Q5R6T0, Q5RAC4, Q5RI43, Q6RKD8, Q6WRH9, Q70AK3, Q7Z2Q7, Q80TR4, Q80XU8, Q810B7, Q810C1, Q8BGT1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	203
Likely benign	67
Benign	16

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
2040835	NM_032229.3(SLITRK6):c.406G>T (p.Glu136Ter)	Pathogenic
3063275	GRCh37/hg19 13q31.1(chr13:85812936-86436723)x1	Pathogenic
3649354	NM_032229.3(SLITRK6):c.1171del (p.Met391fs)	Pathogenic
88862	NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter)	Pathogenic
977632	NM_032229.3(SLITRK6):c.3G>C (p.Met1Ile)	Pathogenic
2504173	NM_032229.3(SLITRK6):c.1557G>A (p.Trp519Ter)	Likely pathogenic
2578707	NM_032229.3(SLITRK6):c.984C>G (p.Tyr328Ter)	Likely pathogenic
2633190	NM_032229.3(SLITRK6):c.382A>T (p.Lys128Ter)	Likely pathogenic
88861	NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)	Likely pathogenic

SpliceAI

94 predictions. Top by Δscore:

Variant	Effect	Δscore
13:85797513:T:TA	donor_gain	0.9900
13:85798908:TCTTA:T	donor_loss	0.9800
13:85798909:CTTA:C	donor_loss	0.9800
13:85798910:TTAC:T	donor_loss	0.9800
13:85798911:TA:T	donor_loss	0.9800
13:85798912:A:AT	donor_loss	0.9800
13:85798913:C:CA	donor_loss	0.9800
13:85796533:C:CC	acceptor_gain	0.9500
13:85798932:T:TA	donor_gain	0.9400
13:85796531:TT:T	acceptor_gain	0.9100
13:85796532:TC:T	acceptor_loss	0.9100
13:85796534:T:G	acceptor_loss	0.9100
13:85798912:A:AC	donor_gain	0.9100
13:85798913:C:CC	donor_gain	0.9100
13:85798907:ATCTT:A	donor_loss	0.8900
13:85796528:CGATT:C	acceptor_gain	0.8600
13:85797627:TG:T	donor_gain	0.8600
13:85796529:GATT:G	acceptor_gain	0.8300
13:85796535:G:C	acceptor_gain	0.8000
13:85799276:G:C	donor_gain	0.7500
13:85799423:T:TA	donor_gain	0.7200
13:85798783:A:T	acceptor_gain	0.7100
13:85796540:A:AC	acceptor_gain	0.7000
13:85796540:A:C	acceptor_gain	0.6900
13:85799286:A:AC	donor_gain	0.6900
13:85799271:A:C	donor_gain	0.6800
13:85799295:G:A	donor_gain	0.6800
13:85796535:G:GC	acceptor_gain	0.6700
13:85797499:T:TA	donor_gain	0.6700
13:85796530:ATT:A	acceptor_gain	0.6600

AlphaMissense

5544 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:85795849:C:A	W220C	1.000
13:85795849:C:G	W220C	1.000
13:85795851:A:G	W220R	1.000
13:85795851:A:T	W220R	1.000
13:85795930:A:C	N193K	1.000
13:85795930:A:T	N193K	1.000
13:85795940:A:G	L190P	1.000
13:85795946:A:G	L188P	1.000
13:85796087:A:G	L141P	1.000
13:85795262:A:G	L416P	0.999
13:85795334:A:G	L392P	0.999
13:85795390:A:C	N373K	0.999
13:85795390:A:T	N373K	0.999
13:85795406:A:G	L368P	0.999
13:85795468:A:C	C347W	0.999
13:85795470:A:G	C347R	0.999
13:85795769:C:G	C247S	0.999
13:85795770:A:G	C247R	0.999
13:85795770:A:T	C247S	0.999
13:85795813:C:A	W232C	0.999
13:85795813:C:G	W232C	0.999
13:85795871:A:G	L213P	0.999
13:85795937:C:G	R191P	0.999
13:85795940:A:C	L190R	0.999
13:85795940:A:T	L190H	0.999
13:85795999:A:C	N170K	0.999
13:85795999:A:T	N170K	0.999
13:85796024:A:G	L162P	0.999
13:85796024:A:T	L162H	0.999
13:85796071:A:C	N146K	0.999

dbSNP variants (sampled 300 via entrez): RS1001470482 (13:85796661 C>G), RS1001818221 (13:85796947 A>T), RS1001856630 (13:85796473 G>A), RS1001876717 (13:85801402 A>G), RS1001928925 (13:85801173 A>G,T), RS1002483621 (13:85793619 A>G), RS1003210560 (13:85800017 AAT>A), RS1003549403 (13:85800190 G>A,T), RS1003600181 (13:85799904 T>C), RS1003644515 (13:85801250 C>T), RS1003760528 (13:85801364 A>C), RS1004437510 (13:85801414 A>G), RS1004913338 (13:85800526 G>C,T), RS1005269493 (13:85800747 T>A), RS1005981095 (13:85799029 T>C)

Disease associations

OMIM: gene MIM:609681 | disease phenotypes: MIM:221200

GenCC curated gene-disease

Disease	Classification	Inheritance
high myopia-sensorineural deafness syndrome	Definitive	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
high myopia-sensorineural deafness syndrome	Definitive	AR

Mondo (4): high myopia-sensorineural deafness syndrome (MONDO:0009082), breast ductal adenocarcinoma (MONDO:0005590), hearing loss disorder (MONDO:0005365), hearing loss, autosomal recessive (MONDO:0019588)

Orphanet (1): High myopia-sensorineural deafness syndrome (Orphanet:363396)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0011003	High myopia

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001811_1	Bipolar disorder (mania)	8.000000e-06
GCST005247_1	Male sexual orientation	8.000000e-07
GCST006633_29	Initial alcohol sensitivity	3.000000e-06
GCST010266_12	Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass	3.000000e-07
GCST010267_9	Trunk fat mass adjusted for trunk lean mass	7.000000e-06
GCST010988_473	Adult body size	3.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007785	femoral neck bone mineral density

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C564609	Deafness, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	increases expression, decreases expression	3
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Nickel	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression, increases expression	2
Esketamine	increases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
zinc chromate	increases abundance, increases expression	1
chromium hexavalent ion	increases abundance, 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
dimethylarsinous acid	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	decreases expression	1
NSC 689534	affects binding, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Microplastics	decreases expression, increases abundance	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	decreases expression	1
Clorgyline	increases expression	1
Copper	affects binding, increases expression	1
Estradiol	decreases expression	1
Polystyrenes	decreases expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Dihydrotestosterone	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)