EML6

gene
On this page

Also known as FLJ42562

Summary

EML6 (EMAP like 6, HGNC:35412) is a protein-coding gene on chromosome 2p16.1, encoding Echinoderm microtubule-associated protein-like 6 (Q6ZMW3). Microtubule-associated protein that plays an important role in the regulation of oocyte meiotic progression by maintaining spindle integrity and facilitating proper chromosome alignment.

Predicted to enable microtubule binding activity. Predicted to be located in cytoplasm and microtubule.

Source: NCBI Gene 400954 — RefSeq curated summary.

At a glance

  • GWAS associations: 27
  • Clinical variants (ClinVar): 362 total — 1 likely-pathogenic
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001039753

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:35412
Approved symbolEML6
NameEMAP like 6
Location2p16.1
Locus typegene with protein product
StatusApproved
AliasesFLJ42562
Ensembl geneENSG00000214595
Ensembl biotypeprotein_coding
OMIM621084
Entrez400954

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 2 protein_coding, 1 retained_intron

ENST00000356458, ENST00000466608, ENST00000472965, ENST00000481376, ENST00000488611, ENST00000490828, ENST00000491655, ENST00000493997, ENST00000673655, ENST00000673746, ENST00000673905, ENST00000673912, ENST00000673916, ENST00000674035

RefSeq mRNA: 1 — MANE Select: NM_001039753 NM_001039753

CCDS: CCDS46286

Canonical transcript exons

ENST00000356458 — 42 exons

ExonStartEnd
ENSE000015340175490337154903502
ENSE000015340195490304454903196
ENSE000015340215489964154899782
ENSE000015340225489527354895400
ENSE000015340245489491554895026
ENSE000015340255489245454892656
ENSE000015340265489105454891154
ENSE000015340285487954754879640
ENSE000015340335486918154869367
ENSE000015340345486676654866884
ENSE000015340445485364354853855
ENSE000015340465484996254850218
ENSE000015340485484748654847623
ENSE000015340525484404754844248
ENSE000015340555482934254829477
ENSE000015340595482756654827751
ENSE000015340625482039454820462
ENSE000015340655481678754816885
ENSE000015478325491095454911042
ENSE000015514285491675954916935
ENSE000015618335492831354928514
ENSE000019442585472454954725258
ENSE000033316705492862554928751
ENSE000033676315496700054967103
ENSE000034104385497007154972025
ENSE000034754685496866854968768
ENSE000034842495495259454952692
ENSE000035342035495779054957998
ENSE000035424515487150054871605
ENSE000035439425496398654964158
ENSE000035480675496457154964733
ENSE000035484495495398354954156
ENSE000035715825495910454959261
ENSE000035860535496812854968281
ENSE000035961865495065054950779
ENSE000035993515496252354962711
ENSE000036320845485953454859701
ENSE000036635435486378354863889
ENSE000036878535496022054960334
ENSE000036881175481323254813391
ENSE000036901435494888254948960
ENSE000039290295472366254723777

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 88.99.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8977 / max 28.7072, expressed in 333 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
203230.3218171
203220.2934172
203210.2798137
203270.00282

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
middle temporal gyrusUBERON:000277188.99gold quality
right hemisphere of cerebellumUBERON:001489087.83gold quality
Brodmann (1909) area 23UBERON:001355487.76gold quality
ganglionic eminenceUBERON:000402387.53gold quality
cerebellar hemisphereUBERON:000224586.93gold quality
cerebellar cortexUBERON:000212986.80gold quality
primary visual cortexUBERON:000243686.74gold quality
cerebellumUBERON:000203786.08gold quality
right frontal lobeUBERON:000281085.55gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.78gold quality
Brodmann (1909) area 9UBERON:001354084.05gold quality
occipital lobeUBERON:000202183.51gold quality
ileal mucosaUBERON:000033183.44gold quality
dorsolateral prefrontal cortexUBERON:000983482.78gold quality
postcentral gyrusUBERON:000258181.96gold quality
pituitary glandUBERON:000000781.83gold quality
anterior cingulate cortexUBERON:000983581.40gold quality
superior frontal gyrusUBERON:000266181.39gold quality
frontal cortexUBERON:000187081.03gold quality
neocortexUBERON:000195080.98gold quality
cerebral cortexUBERON:000095680.32gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.23gold quality
parietal lobeUBERON:000187280.22gold quality
adenohypophysisUBERON:000219680.22gold quality
brainUBERON:000095579.77gold quality
bone marrow cellCL:000209279.52gold quality
left adrenal glandUBERON:000123479.44gold quality
right adrenal gland cortexUBERON:003582779.41gold quality
caudate nucleusUBERON:000187379.37gold quality
left testisUBERON:000453379.36gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes8.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting EML6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-5193100.0067.261744
HSA-MIR-3163100.0077.238605
HSA-MIR-118499.9968.191458
HSA-MIR-453199.9969.703181
HSA-MIR-6759-5P99.9966.54785
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-366299.9973.825684
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-480399.9871.993117
HSA-MIR-548P99.9872.253784
HSA-MIR-548AN99.9770.912817
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-590-3P99.9674.346478
HSA-MIR-767-5P99.9570.85993
HSA-MIR-391099.9571.132227
HSA-MIR-314399.9371.963104
HSA-MIR-497-5P99.9271.832674
HSA-MIR-806399.9169.763146
HSA-MIR-15A-5P99.9072.802787
HSA-MIR-15B-5P99.9072.782798
HSA-MIR-16-5P99.9072.802780
HSA-MIR-195-5P99.9072.812805
HSA-MIR-124-3P99.8973.743043

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioEML6ENSDARG00000102755
mus_musculusEml6ENSMUSG00000044072
rattus_norvegicusEml6ENSRNOG00000037462

Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530)

Protein

Protein identifiers

Echinoderm microtubule-associated protein-like 6Q6ZMW3 (reviewed: Q6ZMW3)

Alternative names: Echinoderm microtubule-associated protein-like 5-like

All UniProt accessions (6): A0A669KAL3, A0A669KB40, A0A669KB65, A0A669KBD4, A0A669KBH1, Q6ZMW3

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-associated protein that plays an important role in the regulation of oocyte meiotic progression by maintaining spindle integrity and facilitating proper chromosome alignment.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle.

Similarity. Belongs to the WD repeat EMAP family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6ZMW3-11yes
Q6ZMW3-22

RefSeq proteins (1): NP_001034842* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001680WD40_rptRepeat
IPR005108HELPConserved_site
IPR011047Quinoprotein_ADH-like_sfHomologous_superfamily
IPR011048Haem_d1_sfHomologous_superfamily
IPR015943WD40/YVTN_repeat-like_dom_sfHomologous_superfamily
IPR036322WD40_repeat_dom_sfHomologous_superfamily
IPR050630WD_repeat_EMAPFamily
IPR055439Beta-prop_EML_1stDomain
IPR055442Beta-prop_EML-like_2ndDomain

Pfam: PF03451, PF23409, PF23414

UniProt features (37 total): repeat 30, region of interest 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6ZMW3-F187.420.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, E2F3_UP.V1_UP, GOCC_SUPRAMOLECULAR_POLYMER, CIITA_TARGET_GENES, DLX2_TARGET_GENES, E2F5_TARGET_GENES, FEV_TARGET_GENES, FOXD2_TARGET_GENES, GLI1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (3): microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
tubulin binding1
binding1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intracellular anatomical structure1
cellular anatomical structure1
intracellular membraneless organelle1

Protein interactions and networks

STRING

1661 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
EML6CIMAP1DQ3SX64515
EML6KIAA1755Q5JYT7446
EML6EPB41L4AQ9HCS5386
EML6HAUS1Q96CS2385
EML6SLC6A7Q99884377
EML6ITM2CQ9NQX7363
EML6TMEM69Q5SWH9358
EML6ANTXRLA6NF34353
EML6OR2T4Q8NH00349
EML6LMAN1LQ9HAT1346
EML6TOGARAM2Q6ZUX3346
EML6GPBP1L1Q9HC44339
EML6PPP1R37O75864331
EML6CCDC167Q9P0B6324
EML6TSPYL6Q8N831323

IntAct

9 interactions, top by confidence:

ABTypeScore
TUBB2BEML2psi-mi:“MI:0914”(association)0.530
TUBB3EML1psi-mi:“MI:0914”(association)0.350
Ppsi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
TUBB8POTEFpsi-mi:“MI:0914”(association)0.350
TUBB3TUBB8Bpsi-mi:“MI:0914”(association)0.350

BioGRID (19): EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-RNA), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Affinity Capture-RNA), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Co-fractionation), EML6 (Co-fractionation)

ESM2 similar proteins: A3LX18, A5DGL8, A5DVY3, A8ILK1, E1BKF9, E3LB80, F1SS88, O00423, O14301, O75083, O88342, O93277, P0CS32, P0CS33, P23232, Q05BC3, Q05BV3, Q15269, Q26613, Q29HG9, Q2KJH4, Q4P6E2, Q54MT0, Q5AI86, Q5F201, Q5RFQ3, Q5RHH4, Q5RKI0, Q5SQM0, Q6BSL7, Q6CI08, Q6DIF4, Q6ED65, Q6FL15, Q6PAX7, Q6ZMW3, Q759L2, Q8BHB4, Q8BQM8, Q8BU03

Diamond homologs: A0AUS0, A0DB19, A0JMQ0, A1CJY4, A1D7I5, A2QEV8, A3LX18, A4H6F7, A4HUV2, A4RDD7, A5DGL8, A5DVY3, A6RUL1, A6ZMK5, A7EF03, A7RM20, A7TH19, A8QBF3, A8WVX8, A8XYW9, A9UZS7, B0BNA7, B0XFT7, B0XYC8, B3MVL6, B3N4C7, B4GIU9, B4GSH1, B4I195, B4JB43, B4KGX9, B4KQU8, B4LUA5, B4MYI5, B4N0L0, B4NW98, B4Q354, B5FZ19, B6K1G6, B8M0Q1

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance327
Likely benign8
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
3236471NM_001039753.4(EML6):c.2563G>A (p.Gly855Arg)Likely pathogenic

SpliceAI

7401 predictions. Top by Δscore:

VariantEffectΔscore
2:54725257:AGG:Adonor_loss1.0000
2:54725258:GGTA:Gdonor_loss1.0000
2:54725260:T:Gdonor_loss1.0000
2:54813230:A:AGacceptor_gain1.0000
2:54813231:G:GGacceptor_gain1.0000
2:54813231:GC:Gacceptor_gain1.0000
2:54813231:GCCTT:Gacceptor_gain1.0000
2:54813388:ACAG:Adonor_loss1.0000
2:54813389:CAGG:Cdonor_loss1.0000
2:54813390:AGG:Adonor_loss1.0000
2:54813391:GG:Gdonor_loss1.0000
2:54813393:T:Gdonor_loss1.0000
2:54816785:A:AGacceptor_gain1.0000
2:54816786:G:GGacceptor_gain1.0000
2:54816786:GC:Gacceptor_gain1.0000
2:54816883:AGGGT:Adonor_loss1.0000
2:54816884:GG:Gdonor_gain1.0000
2:54816884:GGGT:Gdonor_loss1.0000
2:54816885:GG:Gdonor_gain1.0000
2:54816886:G:GAdonor_loss1.0000
2:54816887:T:Adonor_loss1.0000
2:54845422:T:Gdonor_gain1.0000
2:54847595:G:GTdonor_gain1.0000
2:54849957:TACA:Tacceptor_loss1.0000
2:54849958:ACAG:Aacceptor_loss1.0000
2:54849960:A:AGacceptor_gain1.0000
2:54849960:A:Cacceptor_loss1.0000
2:54849961:G:GGacceptor_gain1.0000
2:54849961:GA:Gacceptor_gain1.0000
2:54849961:GAGAT:Gacceptor_gain1.0000

AlphaMissense

12913 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:54725113:G:TG18W1.000
2:54725114:G:AG18E1.000
2:54725134:C:AR25S1.000
2:54725142:C:AN27K1.000
2:54725142:C:GN27K1.000
2:54725171:T:AV37D1.000
2:54725191:G:TG44W1.000
2:54725257:A:CS66R1.000
2:54813232:C:AS66R1.000
2:54813232:C:GS66R1.000
2:54813261:T:AV76D1.000
2:54813264:C:AA77E1.000
2:54813269:G:CG79R1.000
2:54813270:G:AG79D1.000
2:54813302:T:AW90R1.000
2:54813302:T:CW90R1.000
2:54813357:G:AG108E1.000
2:54816796:T:CS123P1.000
2:54816797:C:TS123F1.000
2:54816802:G:AG125R1.000
2:54816802:G:CG125R1.000
2:54816802:G:TG125W1.000
2:54816803:G:AG125E1.000
2:54816832:T:AW135R1.000
2:54816832:T:CW135R1.000
2:54816872:G:AG148D1.000
2:54820439:A:CS168R1.000
2:54820441:C:AS168R1.000
2:54820441:C:GS168R1.000
2:54820445:G:AG170R1.000

dbSNP variants (sampled 300 via entrez): RS1000006016 (2:54800605 A>G), RS1000011384 (2:54841743 C>G,T), RS1000013851 (2:54832334 C>T), RS1000016846 (2:54773322 A>C), RS1000064081 (2:54945936 G>A,C,T), RS1000066743 (2:54850186 G>A), RS1000071381 (2:54864163 A>G), RS1000082336 (2:54912431 G>C,T), RS1000087097 (2:54832532 G>A,C), RS1000094944 (2:54824270 C>T), RS1000104163 (2:54803997 G>A), RS1000121787 (2:54941451 C>G), RS1000126887 (2:54859747 G>A,C,T), RS1000133278 (2:54915681 A>G), RS1000141786 (2:54733365 A>G)

Disease associations

OMIM: gene MIM:621084 | disease phenotypes: MIM:148300

GenCC curated gene-disease

Mondo (1): keratoconus (MONDO:0015486)

Orphanet (2): OBSOLETE: Keratoconus (Orphanet:156071), NON RARE IN EUROPE: Isolated keratoconus (Orphanet:2335)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0000563Keratoconus

GWAS associations

27 associations (top):

StudyTraitp-value
GCST002685_16Refractive astigmatism2.000000e-06
GCST003943_5Hepcidin levels1.000000e-08
GCST003943_7Hepcidin levels3.000000e-06
GCST003945_3Hepcidin/transferrin saturation ratio3.000000e-06
GCST003945_8Hepcidin/transferrin saturation ratio2.000000e-07
GCST004599_274Mean platelet volume2.000000e-11
GCST004610_42White blood cell count3.000000e-09
GCST004613_90Sum neutrophil eosinophil counts7.000000e-10
GCST004614_126Granulocyte count5.000000e-10
GCST004620_130Sum basophil neutrophil counts1.000000e-10
GCST004626_14Myeloid white cell count3.000000e-10
GCST004629_22Neutrophil count1.000000e-10
GCST005721_1Food allergy (parent-of-origin effect)1.000000e-06
GCST005978_1Diastolic blood pressure5.000000e-12
GCST006010_4Mean arterial pressure8.000000e-12
GCST006031_4Potassium levels6.000000e-09
GCST006460_4Bronchopulmonary dysplasia in preterm infants5.000000e-06
GCST007703_96Systolic blood pressure2.000000e-07
GCST007704_98Diastolic blood pressure2.000000e-14
GCST007706_10Mean arterial pressure1.000000e-11
GCST007707_99Hypertension5.000000e-06
GCST010002_365Refractive error3.000000e-34
GCST012226_160Waist circumference adjusted for body mass index2.000000e-08
GCST012226_161Waist circumference adjusted for body mass index4.000000e-09
GCST012489_108Heel bone mineral density x serum urate levels interaction2.000000e-08
GCST90002387_256Immature fraction of reticulocytes1.000000e-09
GCST90002395_323Mean platelet volume8.000000e-23

EFO canonical traits (14, from GWAS)

EFO IDTrait name
EFO:0007902hepcidin:transferrin saturation ratio
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0005090basophil count
EFO:0005939parental genotype effect measurement
EFO:0007016food allergy measurement
EFO:0006336diastolic blood pressure
EFO:0006340mean arterial pressure
EFO:0009283potassium measurement
EFO:0006335systolic blood pressure
EFO:0007789BMI-adjusted waist circumference
EFO:0004531urate measurement
EFO:0009270heel bone mineral density

MeSH disease descriptors (1)

DescriptorNameTree numbers
D007640KeratoconusC11.204.627

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases methylation, affects cotreatment, increases expression, affects expression9
trichostatin Adecreases expression, increases expression, affects expression2
Nickeldecreases expression2
bisphenol Faffects cotreatment, decreases methylation1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
di-n-butylphosphoric acidaffects expression1
entinostatincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
(+)-JQ1 compoundincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Vorinostatincreases expression1
Acetaminophenincreases expression1
Diethylhexyl Phthalatedecreases expression1
Ethinyl Estradiolaffects expression1
Formaldehydedecreases expression1
Hydrogen Peroxideincreases expression1
Leadaffects expression1
Methyl Methanesulfonateincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Vincristinedecreases expression1
Cyclosporinedecreases expression1
Okadaic Acidincreases expression1
Genisteinaffects expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01485211PHASE4COMPLETEDCorneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin
NCT02119039PHASE4COMPLETEDEffect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus
NCT03245853PHASE4COMPLETEDEpi-On Corneal Crosslinking for Keratoconus
NCT03429569PHASE4UNKNOWNCross-Linking ACcéléré Iontophorèse Confocal kératocONE
NCT04427956PHASE4COMPLETEDCorneal Crosslinking Treatment Study
NCT07474870PHASE4NOT_YET_RECRUITINGOutcomes of CTAK Surgery
NCT00371202PHASE3UNKNOWNComparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus
NCT00647699PHASE3COMPLETEDCorneal Collagen Cross-linking for Progressive Keratoconus
NCT00815256PHASE3UNKNOWNSafety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus
NCT00887900PHASE3COMPLETEDDeep Anterior Lamellar Keratoplasty (DALK)
NCT01112072PHASE3UNKNOWNCorneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia
NCT01152541PHASE3UNKNOWNCorneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin
NCT01190306PHASE3TERMINATEDSafety Study of the VEGA UV-A System to Treat Keratoconus
NCT01344187PHASE3COMPLETEDSafety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01459679PHASE3TERMINATEDSafety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery
NCT01464268PHASE3UNKNOWNTransepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia
NCT01604135PHASE3ACTIVE_NOT_RECRUITINGCollagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial
NCT01643226PHASE3COMPLETEDSafety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01672814PHASE3COMPLETEDMicrowave Treatment and Corneal Collagen Crosslinking for Keratoconus
NCT01682993PHASE3TERMINATEDCorneal Cross Linking and Topography Guided Excimer Laser Treatment
NCT01972854PHASE3TERMINATEDSafety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT02613780PHASE3UNKNOWNRefractive Treatment of Early Keratoconus
NCT02638376PHASE3UNKNOWNEvaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus
NCT03080077PHASE3UNKNOWNSafety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia
NCT03187912PHASE3COMPLETEDAccelerated Corneal Cross-linking With Different Riboflavin Solutions
NCT03442751PHASE3COMPLETEDStudy to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus
NCT03858036PHASE3UNKNOWNCorneal Collagen Cross-Linking (CXL) Performed With Epi-ON Versus Epi-OFF in Eyes With Keratoconus and Other Corneal Ectatic Disorders
NCT04897503PHASE3UNKNOWNCorneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose
NCT04905108PHASE3UNKNOWNTransepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia
NCT05027295PHASE3UNKNOWNAccelerated Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Pulse or Continuous UV-A Light
NCT06100939PHASE3ACTIVE_NOT_RECRUITINGEpithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age With Keratoconus
NCT06100952PHASE3ACTIVE_NOT_RECRUITINGEpithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age with Keratoconus
NCT06450470PHASE3RECRUITINGUse of a Freeze-dried Amniotic Membrane Post Crosslinking in Subjects With Progressive Keratoconus
NCT06601101PHASE3RECRUITINGEffects of Topical Insulin on Corneal Epithelium Healing After Corneal Crosslinking in Patients With Keratoconus
NCT07124910PHASE3RECRUITINGComparison of Epi-ON Corneal Collagen Crosslinking Performed Using an 18-Minute UVA Exposure vs. a 24-Minute UVA Exposure on Eyes With Ectatic Corneal Diseases
NCT07135167PHASE3RECRUITINGCompassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome
NCT00409955PHASE2COMPLETEDLamellar Transplant With Lyophilized Corneas
NCT00925327PHASE2UNKNOWNSafety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking for Compassionate Treatment in Pediatric Patients With Progressive Keratoconus
NCT01143389PHASE2COMPLETEDCorneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia
NCT01181219PHASE2COMPLETEDTransepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bronchopulmonary dysplasia