RTEL1

Summary

RTEL1 (regulator of telomere elongation helicase 1, HGNC:15888) is a protein-coding gene on chromosome 20q13.33, encoding Regulator of telomere elongation helicase 1 (Q9NZ71). A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. It is a selective cancer dependency (DepMap: 62.7% of cell lines).

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 51750 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 54
• Clinical variants (ClinVar): 4,264 total — 102 pathogenic, 124 likely-pathogenic
• Phenotypes (HPO): 109
• Cancer dependency (DepMap): dependent in 62.7% of screened cell lines
• MANE Select transcript: NM_001283009

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15888
Approved symbol	RTEL1
Name	regulator of telomere elongation helicase 1
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL
Ensembl gene	ENSG00000258366
Ensembl biotype	protein_coding
OMIM	608833
Entrez	51750

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 21 protein_coding, 6 nonsense_mediated_decay, 5 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000318100, ENST00000356810, ENST00000360203, ENST00000370003, ENST00000370018, ENST00000425905, ENST00000463361, ENST00000469728, ENST00000482936, ENST00000488316, ENST00000496816, ENST00000508582, ENST00000645309, ENST00000646389, ENST00000647249, ENST00000684971, ENST00000686756, ENST00000687123, ENST00000692658, ENST00000692911, ENST00000697814, ENST00000897316, ENST00000897317, ENST00000935985, ENST00000935986, ENST00000935987, ENST00000935988, ENST00000935989, ENST00000935990, ENST00000935991, ENST00000935992, ENST00000935993, ENST00000962500, ENST00000962501, ENST00000962502, ENST00000962503

RefSeq mRNA: 4 — MANE Select: NM_001283009 NM_001283009, NM_001283010, NM_016434, NM_032957

CCDS: CCDS13530, CCDS13531, CCDS63331, CCDS74751

Canonical transcript exons

ENST00000360203 — 35 exons

Exon	Start	End
ENSE00003471346	63689750	63689865
ENSE00003502945	63685523	63685597
ENSE00003503888	63661850	63661943
ENSE00003508308	63694372	63694488
ENSE00003512723	63687937	63688050
ENSE00003544973	63690805	63690947
ENSE00003547987	63688139	63688179
ENSE00003550427	63689502	63689648
ENSE00003577544	63667469	63667553
ENSE00003584704	63685791	63685872
ENSE00003591509	63694741	63694974
ENSE00003591944	63662546	63662627
ENSE00003598309	63695066	63695221
ENSE00003599103	63679849	63679946
ENSE00003605076	63659233	63659504
ENSE00003607070	63689055	63689132
ENSE00003608421	63693143	63693283
ENSE00003610049	63666004	63666079
ENSE00003619664	63688301	63688386
ENSE00003624499	63695328	63695650
ENSE00003631309	63690294	63690441
ENSE00003644165	63688528	63688605
ENSE00003645336	63662829	63662889
ENSE00003651800	63661298	63661496
ENSE00003662324	63687638	63687770
ENSE00003662529	63691742	63691837
ENSE00003666143	63673940	63674093
ENSE00003673304	63672556	63672621
ENSE00003683158	63695778	63696245
ENSE00003683698	63680664	63680719
ENSE00003689639	63692805	63693003
ENSE00003816037	63678145	63678183
ENSE00003826298	63690087	63690210
ENSE00003829195	63678268	63678346
ENSE00003898540	63658312	63658466

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9017 / max 203.1126, expressed in 1797 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185844	14.9017	1797

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.76	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.73	gold quality
cerebellar hemisphere	UBERON:0002245	94.13	gold quality
cerebellar cortex	UBERON:0002129	94.05	gold quality
cerebellum	UBERON:0002037	94.03	gold quality
pituitary gland	UBERON:0000007	93.36	gold quality
mucosa of stomach	UBERON:0001199	92.62	gold quality
adenohypophysis	UBERON:0002196	92.11	gold quality
body of uterus	UBERON:0009853	91.02	gold quality
descending thoracic aorta	UBERON:0002345	90.70	gold quality
thoracic aorta	UBERON:0001515	90.03	gold quality
ascending aorta	UBERON:0001496	89.97	gold quality
right lobe of thyroid gland	UBERON:0001119	89.75	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.56	gold quality
tibial artery	UBERON:0007610	89.29	gold quality
popliteal artery	UBERON:0002250	89.28	gold quality
apex of heart	UBERON:0002098	89.01	gold quality
left coronary artery	UBERON:0001626	89.00	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.90	gold quality
right frontal lobe	UBERON:0002810	88.87	gold quality
metanephros cortex	UBERON:0010533	88.79	gold quality
left lobe of thyroid gland	UBERON:0001120	88.76	gold quality
thyroid gland	UBERON:0002046	88.65	gold quality
endocervix	UBERON:0000458	88.62	gold quality
myometrium	UBERON:0001296	88.13	gold quality
left uterine tube	UBERON:0001303	87.98	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.96	gold quality
lower esophagus	UBERON:0013473	87.93	gold quality
ectocervix	UBERON:0012249	87.91	gold quality
uterine cervix	UBERON:0000002	87.66	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting RTEL1, 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-4283	100.00	66.42	2097
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 62.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Study finds that rtel-1 mutant worms and RTEL1-depleted human cells share characteristic phenotypes with yeast srs2 mutants: lethality upon deletion of the sgs1/BLM homolog, hyperrecombination, and DNA damage sensitivity.[RTEL1] (PMID:18957201)
• On 9p21, rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8), replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13.3, rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7), replication P = 0.00035 and combined P = 3.40 x 10(-9). (PMID:19578366)
• Polymorphisms in the LIG4, BTBD2, HMGA2, and RTEL1 genes, which are involved in the double-strand break repair pathway, are associated with glioblastoma multiforme survival. (PMID:20368557)
• SUSCEPTIBILITY LOCI FOR GLIOMA AND GLIOBLASTOMA RISK IN A CHINESE POPULATION INCLUDED RTEL1 (PMID:21350045)
• rs6010620 a genetic variant of RTEL1, was one of 3 genetic variants implicated in a pool of US epidemiologic studies of glioma risk (PMID:21920947)
• rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours. (PMID:23115063)
• The nonsense mutations both cause truncation of the RTEL1 protein, resulting in loss of the PIP box; this may abrogate an important protein-protein interaction. These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC. (PMID:23329068)
• These biallelic RTEL1 mutations are responsible for a major subgroup ( approximately 29%) of HHS. (PMID:23453664)
• results identify RTEL1 as a novel Hoyeraal-Hreidarsson syndrome-causing gene and highlight its role as a genomic caretaker in humans. (PMID:23591994)
• Two significant Ten candidate tagging SNPs in RTEL1 gene were observed to be associated with glioma risk (PMID:23683922)
• Results indicate the potential roles of regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT) in astrocytoma development. (PMID:23812731)
• Data show that RTEL1 interacts with the shelterin protein TRF1, indicating a potential recruitment mechanism of RTEL1 to telomeres. (PMID:23959892)
• The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. (PMID:24009516)
• The C-terminal extension of RTEL1, downstream of its catalytic domain and including several HHS-associated mutations, contains a yet unidentified tandem of harmonin-N-like domains. (PMID:24130156)
• suggested that RTEL1 rs6010620 polymorphism is likely to be associated with increased glioma risk, which lends further biological plausibility to these findings (PMID:24523019)
• Authors propose that RTEL1 serves as a human analog of Srs2 to inhibit (CTGCAG) repeat expansions and fragility, likely by unwinding problematic hairpins. (PMID:24561255)
• rs6010620 polymorphism in the RTEL1 gene is associated with increased risk of glioma in both Caucasians and Asians. [Meta-Analysis] (PMID:25227808)
• Association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. [Meta-Analysis] (PMID:25556444)
• Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis. (PMID:25607374)
• The shelterin protein TRF2 recruits RTEL1 to telomeres in S phase, which is required to prevent catastrophic t-loop processing by structure-specific nucleases. (PMID:25620558)
• This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of Hoyeraal-Hreidarsson syndrome (PMID:25628358)
• PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths. (PMID:25848748)
• RTEL1 single nucleotide polymorphisms are associated with decreased susceptibility to pediatric brain astrocytoma. (PMID:26014354)
• Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF. (PMID:26022962)
• A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. (PMID:26025130)
• results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population (PMID:26156397)
• Telomere length is associated with Esophageal squamous cell carcinoma risk in a U-shaped pattern and demonstrates that TL-SNPs may not be important in carcinogenesis in Chinese population. (PMID:26581417)
• Deletion in the RTEL1 gene is associated with metastatic glioblastoma. (PMID:26803811)
• Genetic risk variants in the RTEL1 gene is associated with somatic biomarkers in glioma. (PMID:26839018)
• This meta-analysis demonstrates that the RTEL1 rs2297440 polymorphism plays a moderate, but significant role in the risk of glioma. (PMID:26939676)
• promoter methylated in 51.4% of lung cancer patients and in 8.8% of healthy individuals (PMID:27485611)
• Pulmonary fibrosis patients with mutations in telomerase reverse transcriptase, telomerase RNA component, regulator of telomere elongation helicase 1 and poly(A)-specific ribonuclease were identified and clinical data were analysed. Genetic mutations in telomere related genes lead to a variety of interstitial lung disease diagnoses that are universally progressive. (PMID:27540018)
• Findings suggest a potential association between regulator of telomere elongation helicase 1 (RTEL1) polymorphisms and lung cancer (LC) risk in a Chinese Han population. (PMID:27765928)
• SNPs in the RTEL1 are associated with COPD in a Chinese Han population. It is possible that these variants are COPD risk factors. (PMID:28360516)
• Observation are firstly, heterozygous LOF RTEL1 variants are associated with myelodysplasia and liver disease in adulthood. Secondly, biallelic RTEL1 variants can present with just bone marrow failure in adulthood. Thirdly, many heterozygous variants, and even some biallelic RTEL1 variants, are bystanders. (PMID:28495916)
• The allele “G” of rs6089953 and rs6010621 and the allele “A” of rs2297441 were associated with decreased risk of High altitude pulmonary edema, haplotype “GG, GT, AT” of rs6089953-rs6010621 were detected significantly associated with High altitude pulmonary edema risk in the Chinese population. (PMID:28953687)
• a novel association signal in the RTEL1 gene (intronic single nucleotide poly morphism (SNP) rs2297439; P=2.82x10(-7)) that is independent of previously reported Telomere-associated SNPs in this region. (PMID:29151059)
• heterozygous RTEL1 variants were associated with marrow failure, and telomere length measurement alone may not identify patients with telomere dysfunction carrying RTEL1 variants. (PMID:29344583)
• hRTEL1 contributes to the maintenance of long telomeres by preserving long G-overhangs, thereby facilitating POT1 binding and elongation by telomerase. (PMID:29522136)
• RTEL1 SNPs were associated with relative telomere length. Shorter relative telomere length was associated with an increased risk of stroke. (PMID:30345460)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rtel1	ENSDARG00000035074
mus_musculus	Rtel1	ENSMUSG00000038685
rattus_norvegicus	Rtel1	ENSRNOG00000027513
drosophila_melanogaster	Rtel1	FBGN0029798
caenorhabditis_elegans	rtel-1	WBGENE00009124

Paralogs (3): DDX11 (ENSG00000013573), ERCC2 (ENSG00000104884), BRIP1 (ENSG00000136492)

Protein

Protein identifiers

Regulator of telomere elongation helicase 1 — Q9NZ71 (reviewed: Q9NZ71)

Alternative names: Novel helicase-like

All UniProt accessions (7): Q9NZ71, A0A0C4DGC7, A0A2R8Y7H5, A0A2R8YD56, A0A8V8TLB5, A0A8V8TLQ6, X6R5I7

UniProt curated annotations — full annotation on UniProt →

Function. A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

Subunit / interactions. Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.

Subcellular location. Nucleus.

Disease relevance. Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. The disease is caused by variants affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad. Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190] A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The disease is caused by variants affecting the gene represented in this entry. Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 (PFBMFT3) [MIM:616373] An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.

Miscellaneous. Amplified in gastric tumors. Variant in position: 1264:R->H (in DKCB5), abolishes activity.

Similarity. Belongs to the helicase family. RAD3/XPD subfamily.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9NZ71-1	2	yes
Q9NZ71-2	1
Q9NZ71-4	4
Q9NZ71-5	5
Q9NZ71-6	6
Q9NZ71-7	7
Q9NZ71-8	8
Q9NZ71-9	9

RefSeq proteins (4): NP_001269938, NP_001269939, NP_057518, NP_116575 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006554	Helicase-like_DEXD_c2	Domain
IPR006555	ATP-dep_Helicase_C	Domain
IPR010614	RAD3-like_helicase_DEAD	Domain
IPR013020	Rad3/Chl1-like	Family
IPR014013	Helic_SF1/SF2_ATP-bd_DinG/Rad3	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030845	RTEL1	Family
IPR045028	DinG/Rad3-like	Family
IPR049909	Rtel1_HHD	Domain
IPR057498	Rtel1_ARCH	Domain

Pfam: PF06733, PF13307, PF23109, PF23116

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (71 total): sequence variant 27, splice variant 8, region of interest 7, helix 7, binding site 5, sequence conflict 5, short sequence motif 4, compositionally biased region 4, chain 1, domain 1, mutagenesis site 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7WU8	X-RAY DIFFRACTION	1.6
8P8H	X-RAY DIFFRACTION	2.3
8YA8	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZ71-F1	72.64	0.40

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 42–49; 145; 163; 172; 207

Mutagenesis-validated functional residues (1):

Position	Phenotype
48	abolishes atpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-171319	Telomere Extension By Telomerase
R-HSA-2564830	Cytosolic iron-sulfur cluster assembly
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-1430728	Metabolism
R-HSA-157579	Telomere Maintenance
R-HSA-1640170	Cell Cycle
R-HSA-180786	Extension of Telomeres
R-HSA-5685942	HDR through Homologous Recombination (HRR)
R-HSA-5693532	DNA Double-Strand Break Repair
R-HSA-5693537	Resolution of D-Loop Structures
R-HSA-5693538	Homology Directed Repair
R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
R-HSA-73886	Chromosome Maintenance
R-HSA-73894	DNA Repair

MSigDB gene sets: 0 (showing top):

GO Biological Process (21): telomere maintenance (GO:0000723), DNA strand displacement (GO:0000732), DNA repair (GO:0006281), regulation of double-strand break repair via homologous recombination (GO:0010569), replication fork processing (GO:0031297), positive regulation of telomere maintenance (GO:0032206), telomere maintenance in response to DNA damage (GO:0043247), negative regulation of DNA recombination (GO:0045910), telomeric loop disassembly (GO:0090657), mitotic telomere maintenance via semi-conservative replication (GO:1902990), positive regulation of telomere capping (GO:1904355), positive regulation of telomere maintenance via telomere lengthening (GO:1904358), negative regulation of t-circle formation (GO:1904430), negative regulation of telomere maintenance in response to DNA damage (GO:1904506), positive regulation of telomeric loop disassembly (GO:1904535), regulation of DNA recombination (GO:0000018), nucleobase-containing compound metabolic process (GO:0006139), DNA replication (GO:0006260), DNA recombination (GO:0006310), DNA damage response (GO:0006974), regulation of cellular response to stress (GO:0080135)

GO Molecular Function (15): DNA binding (GO:0003677), DNA helicase activity (GO:0003678), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), DNA polymerase binding (GO:0070182), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818), isomerase activity (GO:0016853), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (5): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), nuclear membrane (GO:0031965)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Extension of Telomeres	1
Metabolism	1
Resolution of D-Loop Structures	1
Chromosome Maintenance	1
Telomere Maintenance	1
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	1
DNA Repair	1
HDR through Homologous Recombination (HRR)	1
DNA Double-Strand Break Repair	1
Homology Directed Repair	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	5
DNA recombination	3
telomere maintenance	3
positive regulation of telomere maintenance	3
DNA damage response	2
regulation of DNA recombination	2
negative regulation of DNA metabolic process	2
ATP-dependent activity	2
binding	2
catalytic activity	2
telomere organization	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair	1
DNA-templated DNA replication maintenance of fidelity	1
regulation of telomere maintenance	1
positive regulation of DNA metabolic process	1
positive regulation of chromosome organization	1
mitotic cell cycle	1
telomere maintenance via semi-conservative replication	1
mitotic cell cycle process	1
telomere capping	1
regulation of telomere capping	1
telomere maintenance via telomere lengthening	1
regulation of telomere maintenance via telomere lengthening	1
negative regulation of cellular component organization	1
t-circle formation	1
regulation of t-circle formation	1
negative regulation of telomere maintenance	1
telomere maintenance in response to DNA damage	1
negative regulation of response to stimulus	1
regulation of telomere maintenance in response to DNA damage	1
telomeric loop disassembly	1
regulation of telomeric loop disassembly	1
regulation of DNA metabolic process	1
primary metabolic process	1
DNA biosynthetic process	1
cellular response to stress	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on DNA	1

Protein interactions and networks

STRING

2130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTEL1	TERF1	P54274	911
RTEL1	SLX4	Q8IY92	898
RTEL1	TINF2	Q9BSI4	884
RTEL1	CTC1	Q2NKJ3	875
RTEL1	ANO1	Q5XXA6	871
RTEL1	TERT	O14746	832
RTEL1	WRAP53	Q9BUR4	809
RTEL1	MMS19	Q96T76	807
RTEL1	PARN	O95453	799
RTEL1	NHP2	Q9NX24	797
RTEL1	DKC1	O60832	795
RTEL1	PHLDB1	Q86UU1	767
RTEL1	WRN	Q14191	755
RTEL1	NOP10	Q9NPE3	746
RTEL1	BRCA1	P38398	739

IntAct

62 interactions, top by confidence:

A	B	Type	Score
MMS19	CIAO1	psi-mi:“MI:0915”(physical association)	0.910
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
MMS19	ERCC2	psi-mi:“MI:0914”(association)	0.690
RTEL1	MMS19	psi-mi:“MI:0915”(physical association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
EFNB3	DENND11	psi-mi:“MI:0914”(association)	0.640
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
ISLR	BCKDK	psi-mi:“MI:0914”(association)	0.530
UBXN11	COL1A1	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
XRCC5	BACC1	psi-mi:“MI:0914”(association)	0.350
LIMK1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
NCK1	APBB2	psi-mi:“MI:0914”(association)	0.350
INTS14	DKFZP586J0619	psi-mi:“MI:0914”(association)	0.350
KATNA1	KATNBL1	psi-mi:“MI:0914”(association)	0.350
SASS6	NFIB	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
CIAO2B	ELP1	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
PTGES3	KIFBP	psi-mi:“MI:0914”(association)	0.350
KRT2	IFT56	psi-mi:“MI:0914”(association)	0.350
PPP4R1L	IFT56	psi-mi:“MI:0914”(association)	0.350
RAMP2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
OSTM1	ILVBL	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
TUBB	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (132): MMS19 (Affinity Capture-Western), RTEL1 (Affinity Capture-Western), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), RAD51 (Affinity Capture-MS), VAV2 (Affinity Capture-MS), FAM13A (Affinity Capture-MS), GAS2L1 (Affinity Capture-MS)

ESM2 similar proteins: A1A4I4, A4K436, A6QLH6, D3ZVM4, F1M5F3, F1N2W9, O00459, O08908, O43272, O60336, O95294, P0C928, P23726, P70268, Q0VGM9, Q16512, Q1JQD7, Q1PSW8, Q3KRC5, Q496Y0, Q5M9F8, Q5R812, Q5RE34, Q5RJZ1, Q5RKZ7, Q5XIS9, Q5ZIW1, Q63433, Q63788, Q6H1L8, Q6NS57, Q6NYU2, Q6PFQ7, Q8BZ03, Q8R1T1, Q91XI1, Q920N2, Q92889, Q92994, Q96G46

Diamond homologs: A0A0P0V4R0, A0A8J1M587, A4K436, A8WS58, B0W9F4, B3MSG8, B3NSW1, B4GU19, B4I0K4, B4JNS2, B4L1Z2, B4M891, B4NDG5, B4PZB4, F4HQE2, P0C928, Q0VGM9, Q16X92, Q29FS3, Q3YK19, Q5RE34, Q5RJZ1, Q5SXJ3, Q6H1L8, Q7QEI1, Q93575, Q9NZ71, Q9W484, Q9BX63

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4264 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	102
Likely pathogenic	124
Uncertain significance	1951
Likely benign	1832
Benign	96

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1048767	NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer)	Pathogenic
1069534	NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)	Pathogenic
1069734	NM_001283009.2(RTEL1):c.2098del (p.Arg700fs)	Pathogenic
1070371	NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)	Pathogenic
1071517	NC_000020.10:g.(?62290746)(62290867_?)del	Pathogenic
1071518	NC_000020.10:g.(?62298812)(62298916_?)del	Pathogenic
1071780	NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)	Pathogenic
1071913	NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter)	Pathogenic
1072324	NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs)	Pathogenic
1072371	NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs)	Pathogenic
1073438	NC_000020.10:g.(?62290746)(62312082_?)del	Pathogenic
1075174	NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs)	Pathogenic
1076689	NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)	Pathogenic
1076873	NM_001283009.2(RTEL1):c.1194del (p.Ile398fs)	Pathogenic
1358040	NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs)	Pathogenic
1361216	NC_000020.10:g.(?62298812)(62303984_?)del	Pathogenic
1364279	NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs)	Pathogenic
1429452	NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs)	Pathogenic
1441224	NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)	Pathogenic
1443666	NM_001283009.2(RTEL1):c.2270del (p.Pro757fs)	Pathogenic
1451594	NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs)	Pathogenic
1452400	NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter)	Pathogenic
1452682	NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs)	Pathogenic
1453117	NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs)	Pathogenic
1453809	NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)	Pathogenic
1454177	NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs)	Pathogenic
1455471	NM_001283009.2(RTEL1):c.1216del (p.Glu406fs)	Pathogenic
1456365	NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs)	Pathogenic
1456476	NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)	Pathogenic
1458121	NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs)	Pathogenic

SpliceAI

8763 predictions. Top by Δscore:

Variant	Effect	Δscore
20:63658460:G:GG	donor_gain	1.0000
20:63658462:GAGCA:G	donor_gain	1.0000
20:63658464:GCA:G	donor_gain	1.0000
20:63658467:G:GG	donor_gain	1.0000
20:63661429:A:T	donor_gain	1.0000
20:63662885:AGAAG:A	donor_loss	1.0000
20:63662886:GAAGG:G	donor_loss	1.0000
20:63662887:AAG:A	donor_loss	1.0000
20:63662890:GTACA:G	donor_loss	1.0000
20:63665997:C:G	acceptor_gain	1.0000
20:63675955:GTTTT:G	donor_gain	1.0000
20:63679944:G:GT	donor_gain	1.0000
20:63685785:CTCCA:C	acceptor_loss	1.0000
20:63685786:TCCA:T	acceptor_loss	1.0000
20:63685787:CCAG:C	acceptor_loss	1.0000
20:63685788:CA:C	acceptor_loss	1.0000
20:63685789:A:C	acceptor_loss	1.0000
20:63687768:GAT:G	donor_gain	1.0000
20:63687791:GGCC:G	donor_gain	1.0000
20:63687830:G:GT	donor_gain	1.0000
20:63687924:T:TA	acceptor_gain	1.0000
20:63688047:GACG:G	donor_gain	1.0000
20:63688296:TCCAG:T	acceptor_loss	1.0000
20:63688297:CCAG:C	acceptor_loss	1.0000
20:63688297:CCAGG:C	acceptor_loss	1.0000
20:63688298:CA:C	acceptor_loss	1.0000
20:63688298:CAGG:C	acceptor_loss	1.0000
20:63688299:A:AC	acceptor_loss	1.0000
20:63688383:GCGG:G	donor_gain	1.0000
20:63688384:CGGGT:C	donor_loss	1.0000

AlphaMissense

8466 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:63661894:C:G	H116D	1.000
20:63661904:T:C	L119P	1.000
20:63661925:T:C	L126P	1.000
20:63667473:T:C	C207R	1.000
20:63690124:T:A	W727R	1.000
20:63690124:T:C	W727R	1.000
20:63661319:A:C	S42R	0.999
20:63661321:C:A	S42R	0.999
20:63661321:C:G	S42R	0.999
20:63661334:G:T	G47W	0.999
20:63661335:G:A	G47E	0.999
20:63661338:A:T	K48M	0.999
20:63661879:T:G	Y111D	0.999
20:63661883:C:A	A112D	0.999
20:63661889:G:C	R114T	0.999
20:63661889:G:T	R114M	0.999
20:63661896:C:A	H116Q	0.999
20:63661896:C:G	H116Q	0.999
20:63661902:A:C	Q118H	0.999
20:63661902:A:T	Q118H	0.999
20:63661904:T:A	L119H	0.999
20:63662566:G:A	G139D	0.999
20:63662581:T:C	L144P	0.999
20:63662583:T:A	C145S	0.999
20:63662583:T:C	C145R	0.999
20:63662584:G:A	C145Y	0.999
20:63662584:G:C	C145S	0.999
20:63662585:C:G	C145W	0.999
20:63662838:T:A	C163S	0.999
20:63662838:T:C	C163R	0.999

dbSNP variants (sampled 300 via entrez): RS1000013875 (20:63687185 C>G), RS1000112414 (20:63677210 A>C), RS1000130386 (20:63658297 C>G), RS1000133386 (20:63674632 C>A,T), RS1000199499 (20:63675609 G>A), RS1000212941 (20:63671607 G>A,T), RS1000285423 (20:63675903 A>G), RS1000323686 (20:63665104 G>A), RS1000327450 (20:63693400 C>A,G,T), RS1000340398 (20:63687116 C>A,T), RS1000354448 (20:63666897 T>C,G), RS1000415954 (20:63671786 C>A,T), RS1000434713 (20:63658507 C>G,T), RS1000624496 (20:63696278 G>A), RS1000666759 (20:63686395 T>C)

Disease associations

OMIM: gene MIM:608833 | disease phenotypes: MIM:615190, MIM:616373, MIM:127550, MIM:616239, MIM:254900, MIM:305000, MIM:178500, MIM:224230, MIM:300755, MIM:614742, MIM:614814

GenCC curated gene-disease

Disease	Classification	Inheritance
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Definitive	Semidominant
dyskeratosis congenita, autosomal recessive 5	Definitive	Autosomal recessive
acute myeloid leukemia	Moderate	Autosomal dominant
dyskeratosis congenita	Supportive	Autosomal dominant
Hoyeraal-Hreidarsson syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Definitive	SD

Mondo (18): dyskeratosis congenita, autosomal recessive 5 (MONDO:0014076), pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (MONDO:0014613), dyskeratosis congenita (MONDO:0015780), combined oxidative phosphorylation defect type 24 (MONDO:0014547), pulmonary fibrosis (MONDO:0002771), action myoclonus-renal failure syndrome (MONDO:0009699), dyskeratosis congenita, X-linked (MONDO:0010584), interstitial lung disease 2 (MONDO:0800497), telomere syndrome (MONDO:0100137), dyskeratosis congenita, autosomal recessive 1 (MONDO:0009136), dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485), immunodeficiency disease (MONDO:0021094), pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 (MONDO:0013878), Adams-Oliver syndrome 3 (MONDO:0013895), dyskeratosis congenita, autosomal dominant 4 (MONDO:0800366)

Orphanet (7): Idiopathic pulmonary fibrosis (Orphanet:2032), Dyskeratosis congenita (Orphanet:1775), Combined oxidative phosphorylation defect type 24 (Orphanet:444458), Action myoclonus-renal failure syndrome (Orphanet:163696), Acute interstitial pneumonia (Orphanet:79126), Idiopathic aplastic anemia (Orphanet:88), Adams-Oliver syndrome (Orphanet:974)

HPO phenotypes

109 total (30 of 109 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000035	Abnormal testis morphology
HP:0000164	Abnormality of the dentition
HP:0000252	Microcephaly
HP:0000327	Hypoplasia of the maxilla
HP:0000365	Hearing impairment
HP:0000498	Blepharitis
HP:0000499	Abnormal eyelash morphology
HP:0000518	Cataract
HP:0000534	Abnormal eyebrow morphology
HP:0000600	Abnormality of the pharynx
HP:0000668	Hypodontia
HP:0000670	Carious teeth
HP:0000679	Taurodontia
HP:0000704	Periodontitis
HP:0000819	Diabetes mellitus
HP:0000939	Osteoporosis
HP:0000975	Hyperhidrosis
HP:0000982	Palmoplantar keratoderma
HP:0001034	Hypermelanotic macule
HP:0001053	Hypopigmented skin patches
HP:0001063	Acrocyanosis
HP:0001231	Abnormal fingernail morphology
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001276	Hypertonia

GWAS associations

54 associations (top):

Study	Trait	p-value
GCST000439_6	Glioma	3.000000e-12
GCST000440_1	Glioma (high-grade)	3.000000e-09
GCST000440_3	Glioma (high-grade)	2.000000e-09
GCST000879_42	Crohn’s disease	3.000000e-15
GCST000964_24	Ulcerative colitis	2.000000e-10
GCST001058_6	Glioma	2.000000e-09
GCST001633_3	Glioma	1.000000e-10
GCST001786_26	Dental caries	3.000000e-06
GCST001942_22	Prostate cancer	4.000000e-16
GCST002474_3	Glioma (high-grade)	5.000000e-19
GCST003061_16	Cutaneous malignant melanoma	1.000000e-06
GCST003184_35	Atopic dermatitis	7.000000e-13
GCST004131_34	Inflammatory bowel disease	3.000000e-26
GCST004132_110	Crohn’s disease	3.000000e-13
GCST004133_15	Ulcerative colitis	9.000000e-17
GCST004347_14	Glioma	2.000000e-42
GCST004348_12	Non-glioblastoma glioma	7.000000e-10
GCST004349_9	Glioblastoma	4.000000e-46
GCST004607_186	Plateletcrit	3.000000e-11
GCST005038_56	Allergic disease (asthma, hay fever or eczema)	4.000000e-14
GCST005143_7	Telomere length	3.000000e-07
GCST005931_16	Glioma	4.000000e-21
GCST005931_17	Glioma	1.000000e-13
GCST005932_10	Glioblastoma	1.000000e-19
GCST005932_11	Glioblastoma	1.000000e-16
GCST005933_6	Non-glioblastoma glioma	3.000000e-07
GCST006480_13	Glioblastoma (age-stratified)	8.000000e-13
GCST006480_20	Glioblastoma (age-stratified)	7.000000e-19
GCST006480_7	Glioblastoma (age-stratified)	1.000000e-14
GCST007563_15	Allergic disease (asthma, hay fever or eczema)	3.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004847	age at onset
EFO:0010519	pantothenic acid measurement
EFO:0000768	idiopathic pulmonary fibrosis
EFO:0004632	nevus count
EFO:0004527	mean corpuscular hemoglobin

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D019871	Dyskeratosis Congenita	C15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D011658	Pulmonary Fibrosis	C08.381.483.652; C23.550.355.644
C565079	Dyskeratosis Congenita, Autosomal Dominant (supp.)
C565611	Dyskeratosis Congenita, Autosomal Recessive (supp.)
C536068	Hoyeraal Hreidarsson syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
diallyl trisulfide	decreases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Decitabine	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Vehicle Emissions	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cyclophosphamide	increases expression	1
Diazinon	increases methylation	1
Methapyrilene	decreases methylation	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00199147	PHASE4	UNKNOWN	Efficacy of G-CSF-Priming in Elderly AML Patients
NCT00304447	PHASE4	COMPLETED	Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia
NCT00464217	PHASE4	COMPLETED	Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488709	PHASE4	COMPLETED	Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01041040	PHASE4	COMPLETED	LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML)
NCT01198054	PHASE4	TERMINATED	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
NCT01200355	PHASE4	COMPLETED	Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome
NCT01347996	PHASE4	COMPLETED	Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia
NCT01587430	PHASE4	UNKNOWN	3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia
NCT01819792	PHASE4	COMPLETED	Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia
NCT02024308	PHASE4	UNKNOWN	AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy
NCT02027064	PHASE4	UNKNOWN	Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT
NCT02277847	PHASE4	UNKNOWN	Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT02926586	PHASE4	COMPLETED	Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03026842	PHASE4	UNKNOWN	Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21)
NCT03150134	PHASE4	UNKNOWN	Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients
NCT05144243	PHASE4	ACTIVE_NOT_RECRUITING	Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China
NCT06370000	PHASE4	RECRUITING	Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality
NCT06571825	PHASE4	RECRUITING	RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR
NCT07016165	PHASE4	RECRUITING	Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies
NCT07044687	PHASE4	RECRUITING	Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India
NCT07486713	PHASE4	RECRUITING	Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies
NCT07561892	PHASE4	RECRUITING	Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3).
NCT04619680	PHASE4	COMPLETED	The Study of the Use of Nintedanib in Slowing Lung Disease in Patients With Fibrotic or Non-Fibrotic Interstitial Lung Disease Related to COVID-19
NCT07570888	PHASE4	NOT_YET_RECRUITING	This is a Trial Designed to Evaluate the Combination of Nerandomilast With Mycophenolate Across a Wide Variety of Pulmonary Fibrosis Subtypes, With the Aim of Providing Clinicians With Assurance That This is an Appropriate Therapeutic Combination.
NCT00000589	PHASE3	COMPLETED	Trial to Reduce Alloimmunization to Platelets (TRAP)
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00093990	PHASE3	COMPLETED	Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
NCT00125606	PHASE3	TERMINATED	Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide
NCT00136084	PHASE3	COMPLETED	Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia
NCT00146120	PHASE3	COMPLETED	Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result
NCT00150878	PHASE3	TERMINATED	Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission
NCT00151255	PHASE3	COMPLETED	All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT00152139	PHASE3	COMPLETED	Stem Cell Transplantation for Patients With Hematologic Malignancies
NCT00152594	PHASE3	TERMINATED	Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia
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