C10orf105
geneOn this page
Also known as FLJ00245
Summary
C10orf105 (chromosome 10 open reading frame 105, HGNC:20304) is a protein-coding gene on chromosome 10q22.1, encoding Uncharacterized protein C10orf105 (Q8TEF2).
Predicted to be located in membrane.
Source: NCBI Gene 414152 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 580 total — 32 pathogenic, 33 likely-pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_001164375
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20304 |
| Approved symbol | C10orf105 |
| Name | chromosome 10 open reading frame 105 |
| Location | 10q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ00245 |
| Ensembl gene | ENSG00000214688 |
| Ensembl biotype | protein_coding |
| Entrez | 414152 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000398786, ENST00000441508, ENST00000941870
RefSeq mRNA: 2 — MANE Select: NM_001164375
NM_001164375, NM_001168390
CCDS: CCDS44430
Canonical transcript exons
ENST00000441508 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001645037 | 71719627 | 71719778 |
| ENSE00001652599 | 71711701 | 71716342 |
Expression profiles
Bgee: expression breadth ubiquitous, 107 present calls, max score 80.83.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3650 / max 63.8813, expressed in 96 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109882 | 0.1562 | 63 |
| 109880 | 0.0823 | 48 |
| 109884 | 0.0425 | 21 |
| 109883 | 0.0288 | 15 |
| 109881 | 0.0240 | 16 |
| 109885 | 0.0160 | 8 |
| 109886 | 0.0153 | 6 |
Top tissues by expression
123 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| quadriceps femoris | UBERON:0001377 | 80.83 | gold quality |
| blood | UBERON:0000178 | 78.82 | gold quality |
| cerebellar vermis | UBERON:0004720 | 77.34 | gold quality |
| hypothalamus | UBERON:0001898 | 76.81 | gold quality |
| substantia nigra | UBERON:0002038 | 76.56 | gold quality |
| granulocyte | CL:0000094 | 74.19 | gold quality |
| monocyte | CL:0000576 | 72.55 | gold quality |
| leukocyte | CL:0000738 | 72.54 | gold quality |
| amygdala | UBERON:0001876 | 71.85 | gold quality |
| temporal lobe | UBERON:0001871 | 71.73 | gold quality |
| nucleus accumbens | UBERON:0001882 | 70.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 70.69 | gold quality |
| Ammon’s horn | UBERON:0001954 | 69.65 | gold quality |
| spleen | UBERON:0002106 | 66.18 | gold quality |
| spinal cord | UBERON:0002240 | 65.20 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 65.12 | gold quality |
| ventricular zone | UBERON:0003053 | 61.49 | gold quality |
| putamen | UBERON:0001874 | 60.35 | gold quality |
| thymus | UBERON:0002370 | 59.91 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 59.27 | gold quality |
| bone marrow cell | CL:0002092 | 58.75 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 58.52 | gold quality |
| lymph node | UBERON:0000029 | 58.49 | gold quality |
| brain | UBERON:0000955 | 58.26 | gold quality |
| vermiform appendix | UBERON:0001154 | 58.22 | gold quality |
| cerebral cortex | UBERON:0000956 | 57.23 | gold quality |
| bone marrow | UBERON:0002371 | 56.54 | silver quality |
| right lung | UBERON:0002167 | 56.49 | gold quality |
| right frontal lobe | UBERON:0002810 | 56.47 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 55.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
142 targeting C10orf105, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gm17455 | ENSMUSG00000090439 |
| rattus_norvegicus | Gm17455 | ENSRNOG00000074800 |
Protein
Protein identifiers
Uncharacterized protein C10orf105 — Q8TEF2 (reviewed: Q8TEF2)
All UniProt accessions (1): Q8TEF2
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
RefSeq proteins (2): NP_001157847, NP_001161862 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039954 | DUF5527 | Family |
Pfam: PF17665
UniProt features (5 total): chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TEF2-F1 | 63.46 | 0.13 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 21 (showing top):
MIR4319, MIR4441, MIR6764_5P, MIR486_3P, MIR4270, MIR5193, MIR6754_5P, MIR1266_5P, MIR4518, MIR3922_5P, MIR7976, MIR4254, MIR3162_5P, MIR6827_5P, MIR4764_5P
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
52 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| C10orf105 | EGFL8 | Q99944 | 582 |
| C10orf105 | RNF39 | Q9H2S5 | 578 |
| C10orf105 | PPT2 | Q9UMR5 | 514 |
| C10orf105 | VSIG8 | P0DPA2 | 419 |
| C10orf105 | CDH23 | Q9H251 | 400 |
| C10orf105 | FRMD4B | Q9Y2L6 | 323 |
| C10orf105 | PRDM16 | Q9HAZ2 | 305 |
| C10orf105 | PLAAT4 | Q9UL19 | 248 |
| C10orf105 | PROX2 | Q3B8N5 | 230 |
| C10orf105 | ZNF714 | Q96N38 | 223 |
| C10orf105 | ERICH1 | Q86X53 | 220 |
| C10orf105 | ADARB2 | Q9NS39 | 220 |
| C10orf105 | TMEM205 | Q6UW68 | 202 |
| C10orf105 | STK32C | Q86UX6 | 200 |
| C10orf105 | TOMM40L | Q969M1 | 188 |
IntAct
0 interactions, top by confidence:
BioGRID (1): C10orf105 (Negative Genetic)
ESM2 similar proteins: A0A1B0GU29, A6NLX4, A6QNY1, A9CBA0, B7ZWI3, O14669, O88472, P14784, P16297, P25918, P26896, Q0VFL4, Q13651, Q32M26, Q38J84, Q38J85, Q3SYS8, Q58CT8, Q5BK39, Q5EAA5, Q5HZE8, Q5NCP0, Q5RCL0, Q64322, Q68DV7, Q6AXS2, Q6AXU5, Q6NUJ2, Q6UWV7, Q86UW2, Q8BHB3, Q8BLR5, Q8BSU2, Q8C353, Q8C708, Q8K1T1, Q8MII8, Q8N6P7, Q8NET5, Q8R182
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
580 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 32 |
| Likely pathogenic | 33 |
| Uncertain significance | 200 |
| Likely benign | 238 |
| Benign | 25 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1068856 | NM_022124.6(CDH23):c.3457del (p.His1153fs) | Pathogenic |
| 1071393 | NC_000010.10:g.(?73199579)(73501688_?)del | Pathogenic |
| 1073637 | NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) | Pathogenic |
| 1076540 | NM_022124.6(CDH23):c.3651del (p.Leu1218fs) | Pathogenic |
| 1185587 | NM_022124.6(CDH23):c.3353del (p.Gly1118fs) | Pathogenic |
| 1378730 | NM_022124.6(CDH23):c.3375del (p.Ala1126fs) | Pathogenic |
| 1458297 | NM_022124.6(CDH23):c.3713_3714del (p.Ser1238fs) | Pathogenic |
| 1459529 | NC_000010.10:g.(?73381150)(73553170_?)del | Pathogenic |
| 1687244 | NM_022124.6(CDH23):c.3431-1G>A | Pathogenic |
| 179348 | NM_022124.5(CDH23):c.(?3716)(4146_?)del | Pathogenic |
| 2012237 | NM_022124.6(CDH23):c.3762del (p.Lys1255fs) | Pathogenic |
| 2136882 | NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter) | Pathogenic |
| 2763587 | NM_022124.6(CDH23):c.3541_3559del (p.Tyr1181fs) | Pathogenic |
| 2819985 | NM_022124.6(CDH23):c.3321T>A (p.Tyr1107Ter) | Pathogenic |
| 2834492 | NM_022124.6(CDH23):c.3950dup (p.Tyr1318fs) | Pathogenic |
| 2851838 | NM_022124.6(CDH23):c.3413G>A (p.Trp1138Ter) | Pathogenic |
| 3245004 | NC_000010.10:g.(?73483792)(73490371_?)del | Pathogenic |
| 3245009 | NC_000010.10:g.(?73494902)(73501606_?)del | Pathogenic |
| 3250301 | NM_022124.6(CDH23):c.3715+2T>A | Pathogenic |
| 3601266 | NM_022124.6(CDH23):c.3715+1G>C | Pathogenic |
| 3601277 | NM_022124.6(CDH23):c.3801del (p.Thr1267_Val1268insTer) | Pathogenic |
| 3632396 | NM_022124.6(CDH23):c.4124del (p.Gly1375fs) | Pathogenic |
| 3642098 | NM_022124.6(CDH23):c.3322G>T (p.Glu1108Ter) | Pathogenic |
| 4055753 | NM_022124.6(CDH23):c.3367C>T (p.Gln1123Ter) | Pathogenic |
| 45920 | NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) | Pathogenic |
| 45926 | NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) | Pathogenic |
| 4921 | NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) | Pathogenic |
| 521399 | NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) | Pathogenic |
| 560433 | NM_022124.6(CDH23):c.3428dup (p.His1143fs) | Pathogenic |
| 595857 | NM_022124.6(CDH23):c.3221-2A>G | Pathogenic |
SpliceAI
1963 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:71712654:A:AG | acceptor_gain | 1.0000 |
| 10:71712655:A:G | acceptor_gain | 1.0000 |
| 10:71712660:CACA:C | acceptor_loss | 1.0000 |
| 10:71712662:CAG:C | acceptor_loss | 1.0000 |
| 10:71712663:A:AG | acceptor_gain | 1.0000 |
| 10:71712663:AG:A | acceptor_loss | 1.0000 |
| 10:71712664:G:GA | acceptor_gain | 1.0000 |
| 10:71712664:GA:G | acceptor_gain | 1.0000 |
| 10:71712664:GAC:G | acceptor_gain | 1.0000 |
| 10:71712664:GACA:G | acceptor_gain | 1.0000 |
| 10:71712664:GACAA:G | acceptor_gain | 1.0000 |
| 10:71724102:CATGG:C | donor_loss | 1.0000 |
| 10:71724104:TGG:T | donor_loss | 1.0000 |
| 10:71724105:GGTA:G | donor_loss | 1.0000 |
| 10:71724106:G:GG | donor_gain | 1.0000 |
| 10:71724106:GT:G | donor_loss | 1.0000 |
| 10:71724107:T:TC | donor_loss | 1.0000 |
| 10:71725519:GG:G | donor_gain | 1.0000 |
| 10:71725520:GG:G | donor_gain | 1.0000 |
| 10:71730468:GGT:G | acceptor_gain | 1.0000 |
| 10:71730581:TCC:T | donor_gain | 1.0000 |
| 10:71731753:T:TA | acceptor_gain | 1.0000 |
| 10:71731754:G:A | acceptor_gain | 1.0000 |
| 10:71732373:ACGGT:A | donor_loss | 1.0000 |
| 10:71732374:CGGTG:C | donor_loss | 1.0000 |
| 10:71732376:G:GC | donor_loss | 1.0000 |
| 10:71732376:G:GG | donor_gain | 1.0000 |
| 10:71732377:T:A | donor_loss | 1.0000 |
| 10:71734625:A:AG | acceptor_gain | 1.0000 |
| 10:71712656:C:G | acceptor_gain | 0.9900 |
AlphaMissense
861 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:71716184:A:G | C52R | 0.954 |
| 10:71716065:C:A | K91N | 0.936 |
| 10:71716065:C:G | K91N | 0.936 |
| 10:71716208:A:G | C44R | 0.935 |
| 10:71716068:C:A | W90C | 0.925 |
| 10:71716068:C:G | W90C | 0.925 |
| 10:71716070:A:G | W90R | 0.897 |
| 10:71716070:A:T | W90R | 0.897 |
| 10:71716066:T:G | K91T | 0.880 |
| 10:71716066:T:A | K91M | 0.864 |
| 10:71716069:C:G | W90S | 0.849 |
| 10:71716198:A:C | L47R | 0.832 |
| 10:71716195:A:C | L48R | 0.821 |
| 10:71716067:T:C | K91E | 0.812 |
| 10:71716200:G:C | F46L | 0.796 |
| 10:71716200:G:T | F46L | 0.796 |
| 10:71716202:A:G | F46L | 0.796 |
| 10:71716173:G:C | F55L | 0.790 |
| 10:71716173:G:T | F55L | 0.790 |
| 10:71716175:A:G | F55L | 0.790 |
| 10:71716078:A:T | L87H | 0.788 |
| 10:71716192:A:C | L49R | 0.784 |
| 10:71716069:C:A | W90L | 0.780 |
| 10:71715940:A:T | M133K | 0.777 |
| 10:71715940:A:G | M133T | 0.773 |
| 10:71716029:G:C | F103L | 0.767 |
| 10:71716029:G:T | F103L | 0.767 |
| 10:71716031:A:G | F103L | 0.767 |
| 10:71716198:A:T | L47H | 0.766 |
| 10:71716113:C:A | M75I | 0.753 |
dbSNP variants (sampled 300 via entrez): RS1000050253 (10:71736681 C>T), RS1000125623 (10:71726383 G>A,C), RS1000205935 (10:71722370 C>T), RS1000319008 (10:71723584 A>G,T), RS1000350229 (10:71723738 C>T), RS1000430346 (10:71738157 G>C), RS1000546189 (10:71739563 G>A,C), RS1000651671 (10:71735574 G>A,T), RS1000653855 (10:71724747 T>C), RS1000686216 (10:71726877 C>G), RS1001009449 (10:71714182 A>G), RS1001204472 (10:71721832 G>A), RS1001232752 (10:71728167 C>G), RS1001256821 (10:71722109 A>G), RS1001513019 (10:71716753 C>T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:601067, MIM:617540, MIM:601386, MIM:128600, MIM:220290, MIM:607197, MIM:276900, MIM:120970, MIM:500004, MIM:156000
GenCC curated gene-disease
Mondo (15): Usher syndrome type 1D (MONDO:0010984), Usher syndrome type 1 (MONDO:0010168), pituitary adenoma 5, multiple types (MONDO:0054601), autosomal recessive nonsyndromic hearing loss 12 (MONDO:0011067), ear malformation (MONDO:0007500), hearing loss, autosomal recessive (MONDO:0019588), Usher syndrome (MONDO:0019501), inherited retinal dystrophy (MONDO:0019118), cone-rod dystrophy (MONDO:0015993), optic atrophy (MONDO:0003608), hearing loss disorder (MONDO:0005365), retinitis pigmentosa-deafness syndrome (MONDO:0010775), Meniere disease (MONDO:0007972), intellectual disability (MONDO:0001071), vitreoretinal degeneration (MONDO:0020248)
Orphanet (10): Usher syndrome type 1 (Orphanet:231169), Usher syndrome (Orphanet:886), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Rare genetic deafness (Orphanet:96210), Cone rod dystrophy (Orphanet:1872), NON RARE IN EUROPE: Menière disease (Orphanet:45360), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), OBSOLETE: Vitreoretinal degeneration (Orphanet:98670)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
| HP:0007964 | Degenerative vitreoretinopathy |
GWAS associations
0 associations (top):
MeSH disease descriptors (9)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000071700 | Cone-Rod Dystrophies | C11.270.152; C11.768.585.658.250; C16.320.290.152 |
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008575 | Meniere Disease | C09.218.568.217.500 |
| D009896 | Optic Atrophy | C10.292.700.225; C11.640.451 |
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D052245 | Usher Syndromes | C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886 |
| C564609 | Deafness, Autosomal Recessive (supp.) | |
| C563327 | Deafness, Autosomal Recessive 12 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | decreases expression, affects cotreatment | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Permethrin | decreases expression | 1 |
Clinical trials (associated diseases)
298 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 |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| 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 |
| NCT02065011 | PHASE2 | ACTIVE_NOT_RECRUITING | A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B |
| NCT03763227 | PHASE2 | COMPLETED | Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy |
| NCT04068207 | PHASE2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04945772 | PHASE2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT01773278 | PHASE2 | RECRUITING | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) |
| 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 |
| 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 |
| NCT05902962 | PHASE1 | COMPLETED | SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects |
| NCT06319872 | PHASE1 | RECRUITING | The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration |
| NCT06455826 | PHASE1 | COMPLETED | MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby) |
| NCT01064505 | PHASE1 | COMPLETED | Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients |
| NCT05147701 | PHASE1 | RECRUITING | Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION |
| 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 |
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| 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 |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive nonsyndromic hearing loss 12, cone-rod dystrophy, ear malformation, hearing loss disorder, Meniere disease, optic atrophy, pituitary adenoma 5, multiple types, retinitis pigmentosa-deafness syndrome, Usher syndrome, Usher syndrome type 1, Usher syndrome type 1D, vitreoretinal degeneration