Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51750
Gene name	Regulator of telomere elongation helicase 1
Gene symbol	RTEL1
Synonyms (NCBI Gene)	C20orf41DKCA4DKCB5NHLPFBMFT3RTEL
Chromosome	20
Chromosome location	20q13.33
Summary	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 w

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040125	hsa-miR-615-3p	CLASH	23622248
MIRT732881	hsa-miR-4530	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	33200790
MIRT2319887	hsa-miR-1207-5p	CLIP-seq
MIRT2319888	hsa-miR-1285	CLIP-seq
MIRT2319889	hsa-miR-3187-5p	CLIP-seq
MIRT2319890	hsa-miR-3688-5p	CLIP-seq
MIRT2319891	hsa-miR-4505	CLIP-seq
MIRT2319892	hsa-miR-4736	CLIP-seq
MIRT2319893	hsa-miR-4763-3p	CLIP-seq
MIRT2319894	hsa-miR-612	CLIP-seq
MIRT2319895	hsa-miR-644	CLIP-seq

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000018	Process	Regulation of DNA recombination	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IMP	23453664
GO:0000723	Process	Telomere maintenance	ISS
GO:0000732	Process	DNA strand displacement	IEA
GO:0000732	Process	DNA strand displacement	ISS
GO:0000732	Process	DNA strand displacement	TAS
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003678	Function	DNA helicase activity	IMP	18957201
GO:0003678	Function	DNA helicase activity	ISS	24115439
GO:0003678	Function	DNA helicase activity	TAS
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	23585563, 23959892, 25620558, 28178521
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	18957201
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23585563
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IBA
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IEA
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IMP	18957201
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IEA
GO:0031297	Process	Replication fork processing	ISS	24115439
GO:0031965	Component	Nuclear membrane	IDA
GO:0032206	Process	Positive regulation of telomere maintenance	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	ISS
GO:0043247	Process	Telomere maintenance in response to DNA damage	IEA
GO:0043247	Process	Telomere maintenance in response to DNA damage	ISS
GO:0045910	Process	Negative regulation of DNA recombination	IBA
GO:0045910	Process	Negative regulation of DNA recombination	IEA
GO:0045910	Process	Negative regulation of DNA recombination	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0070182	Function	DNA polymerase binding	IBA
GO:0070182	Function	DNA polymerase binding	IEA
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0090657	Process	Telomeric loop disassembly	IBA
GO:0090657	Process	Telomeric loop disassembly	IEA
GO:0090657	Process	Telomeric loop disassembly	IMP	25620558
GO:0090657	Process	Telomeric loop disassembly	ISS
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	ISS	24115439
GO:1904355	Process	Positive regulation of telomere capping	IMP	23959892
GO:1904358	Process	Positive regulation of telomere maintenance via telomere lengthening	IMP	23959892
GO:1904430	Process	Negative regulation of t-circle formation	IBA
GO:1904430	Process	Negative regulation of t-circle formation	IEA
GO:1904430	Process	Negative regulation of t-circle formation	IMP	25620558
GO:1904430	Process	Negative regulation of t-circle formation	ISS	24115439
GO:1904430	Process	Negative regulation of t-circle formation	TAS	24115439
GO:1904506	Process	Negative regulation of telomere maintenance in response to DNA damage	IEA
GO:1904506	Process	Negative regulation of telomere maintenance in response to DNA damage	ISS
GO:1904535	Process	Positive regulation of telomeric loop disassembly	IEA
GO:1904535	Process	Positive regulation of telomeric loop disassembly	ISS

MIM	HGNC	e!Ensembl
608833	15888	ENSG00000258366

Q9NZ71

Protein name

Regulator of telomere elongation helicase 1 (EC 5.6.2.-) (Novel helicase-like)

Protein 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 meio

PDB

7WU8 , 8P8H , 8YA8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06733	DEAD_2	111 → 272	DEAD_2	Family
PF13307	Helicase_C_2	545 → 731	Helicase C-terminal domain	Domain

Sequence

MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWR
EHLRDGISARKIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLT
QVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEE
KSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMPYNYLLDAKSRRAHNI
DLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFS
ADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQ
TKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSG
TLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSS
LGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSE
TISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKM
QFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADA
RAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRGEDAVSEAKSP
GPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFM
VAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHH
KQQFEEVCIQLTGRGCGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQE
HLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLL
AALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPY
PGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDA
GPSQSSGPPHGPAASEWGL

Sequence length

1219

Interactions

View interactions

	Reactome
			Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)

6834

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of blood and blood-forming tissues	Pathogenic	rs1415449695	RCV001814212
Action myoclonus-renal failure syndrome	Likely pathogenic	rs2517017153	RCV003126211
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1555903332	RCV001172446
Adams-Oliver syndrome 3	Likely pathogenic; Pathogenic	rs373740199	RCV005862960
Combined oxidative phosphorylation defect type 24	Likely pathogenic	rs2145431062	RCV005411734
Dyskeratosis congenita	Likely pathogenic; Pathogenic	rs1568703403, rs2145431062, rs1421904176, rs1285773934, rs776744306, rs863225129, rs2517134527, rs2090581105, rs1373020489, rs1555899096, rs1555903332, rs1555814400, rs80224512, rs1555899111, rs201540674 View all (8 more)	RCV001831374 RCV001831354 RCV002238667 RCV005608882 RCV000590169 RCV000588351 RCV005608851 RCV005610614 RCV005610617 RCV000503722 RCV000503881 RCV000502122 RCV001276031 RCV000587587 RCV000586517 RCV000586033 RCV000589642 RCV005606693 RCV005606698 RCV001829829 RCV001829840 RCV000826213 RCV000502656 RCV001833989
Dyskeratosis congenita, autosomal dominant 4	Likely pathogenic; Pathogenic	rs373740199, rs398123052	RCV000055639 RCV000055640
Dyskeratosis congenita, autosomal recessive 5	Likely pathogenic; Pathogenic	rs2090461817, rs1568703403, rs1444392809, rs2145431062, rs2145476311, rs2145480981, rs2146150691, rs2145411193, rs2090629495, rs1367858373, rs2090684427, rs2145434954, rs2090784564, rs777109448, rs2145471381 View all (185 more)	RCV001377598 RCV001379967 RCV001378074 RCV001378379 RCV001377696 RCV001379929 RCV001385011 RCV001390902 RCV001383448 RCV001381426 RCV001381696 RCV001390674 RCV001384321 RCV001382485 RCV001385061 RCV001390643 RCV001388697 RCV001384501 RCV002541211 RCV003772339 RCV001990601 RCV002046118 RCV001979059 RCV002037651 RCV002037715 RCV001960604 RCV001961306 RCV001952996 RCV002014383 RCV001955710 RCV001905316 RCV002020146 RCV001938002 RCV001993285 RCV002037834 RCV002002383 RCV002000425 RCV001978568 RCV001942238 RCV001942239 RCV001932662 RCV002012366 RCV001939342 RCV001938945 RCV001946917 RCV001946862 RCV001972398 RCV001894130 RCV001946606 RCV001956208 RCV002042170 RCV002015934 RCV002227586 RCV003774689 RCV002249156 RCV002579263 RCV003084921 RCV002599448 RCV002577787 RCV002580341 RCV002581502 RCV002659462 RCV002716218 RCV002775632 RCV002800588 RCV002786760 RCV002838885 RCV002833670 RCV002871878 RCV002847399 RCV002875828 RCV002872400 RCV002933119 RCV003009605 RCV003765296 RCV003765299 RCV002991389 RCV003029602 RCV003058090 RCV003036536 RCV003059634 RCV003466269 RCV003466270 RCV003466271 RCV003466272 RCV003466273 RCV003466274 RCV003466275 RCV003466276 RCV003466277 RCV003466278 RCV003466279 RCV003466280 RCV003466281 RCV003466282 RCV003466283 RCV003466284 RCV003466285 RCV003466286 RCV003466287 RCV003466288 RCV003466289 RCV003466290 RCV003466291 RCV003466292 RCV003466293 RCV003466294 RCV003466295 RCV003466296 RCV003466297 RCV003466298 RCV003466299 RCV003793541 RCV003785292 RCV003789831 RCV003780643 RCV003780715 RCV003790262 RCV003798337 RCV003798376 RCV003794083 RCV003791920 RCV003792272 RCV003807816 RCV003807875 RCV003808335 RCV003791388 RCV003791792 RCV003803724 RCV003802764 RCV003802965 RCV003805317 RCV003802673 RCV003809033 RCV003807123 RCV003801974 RCV003804559 RCV003817965 RCV003809484 RCV003809546 RCV003807528 RCV003807632 RCV003812966 RCV003812305 RCV003810253 RCV003810267 RCV004574799 RCV004574800 RCV004574801 RCV004574802 RCV004574803 RCV004574804 RCV003766850 RCV000670829 RCV000034860 RCV000034861 RCV000034862 RCV000651087 RCV001868183 RCV000670220 RCV000669234 RCV000665835 RCV000671315 RCV000671196 RCV000674227 RCV000672502 RCV000667674 RCV000672430 RCV000671264 RCV000674336 RCV000669629 RCV000666445 RCV000667410 RCV000674151 RCV000669994 RCV000672496 RCV000670722 RCV000674750 RCV000674741 RCV000667829 RCV000671417 RCV000672386 RCV000671530 RCV000674721 RCV000668736 RCV000665184 RCV000667028 RCV005034283 RCV000700276 RCV000823335 RCV000812646 RCV000792735 RCV000055635 RCV000055638 RCV000665130 RCV001049521 RCV001037577 RCV001041587 RCV001045358 RCV001175310 RCV001207263 RCV001206922 RCV001203817 RCV001210779 RCV001221219 RCV001229984 RCV001233061 RCV001230569 RCV001230155 RCV001242664
Dyskeratosis congenita, X-linked	Pathogenic	rs1386490624	RCV002464981
Interstitial lung disease 2	Likely pathogenic; Pathogenic	rs863225053, rs776744306, rs869312855, rs863225129, rs748223349, rs201540674, rs398123017, rs1555899640, rs776525427	RCV000201532 RCV000201651 RCV000201698 RCV000201560 RCV000201648 RCV000201662 RCV000201744 RCV000677221 RCV000677222
Pulmonary fibrosis	Pathogenic; Likely pathogenic	rs2146150691, rs2517117939, rs2517017188, rs863223336, rs786205702, rs2090675337, rs1555811762, rs1555903332, rs398123017, rs373740199	RCV002509680 RCV002509787 RCV002509790 RCV002509275 RCV002509277 RCV005626670 RCV002509338 RCV002509415 RCV002509182 RCV002509196
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Pathogenic; Likely pathogenic	rs2146141332, rs2090461817, rs1568703403, rs1444392809, rs2145431062, rs2145476311, rs2145480981, rs2146150691, rs2145411193, rs2090629495, rs1367858373, rs2090684427, rs2145434954, rs2090784564, rs777109448 View all (141 more)	RCV001353354 RCV001377598 RCV001379967 RCV001378074 RCV001378379 RCV001377696 RCV001379929 RCV001385011 RCV001390902 RCV001383448 RCV001381426 RCV001381696 RCV001390674 RCV001384321 RCV001382485 RCV001385061 RCV001390643 RCV001388697 RCV001384501 RCV002541211 RCV003772339 RCV001990601 RCV002046118 RCV001979059 RCV002037651 RCV002037715 RCV001960604 RCV001961306 RCV001952996 RCV002014383 RCV001955710 RCV001905316 RCV002020146 RCV001938002 RCV001993285 RCV002037834 RCV002002383 RCV002000425 RCV001978568 RCV001942238 RCV001942239 RCV001932662 RCV002012366 RCV001939342 RCV001938945 RCV001946917 RCV001946862 RCV001972398 RCV001894130 RCV001946606 RCV001956208 RCV002042170 RCV002015934 RCV003774689 RCV003329251 RCV003329253 RCV002579263 RCV003084921 RCV002599448 RCV002577787 RCV002580341 RCV002581502 RCV002659462 RCV002716218 RCV002775632 RCV002800588 RCV002786760 RCV002838885 RCV002833670 RCV002871878 RCV002847399 RCV002875828 RCV002872400 RCV002933119 RCV003009605 RCV003329257 RCV003329258 RCV003765299 RCV002991389 RCV003029602 RCV003058090 RCV003036536 RCV003059634 RCV003329272 RCV005030048 RCV005216117 RCV003779103 RCV003793541 RCV003785292 RCV003789831 RCV003780643 RCV003780715 RCV003790262 RCV003798337 RCV003798376 RCV003794083 RCV003791920 RCV003792272 RCV003807816 RCV003807875 RCV003808335 RCV003791388 RCV003791792 RCV003803724 RCV003802764 RCV003802965 RCV003805317 RCV003802673 RCV003809033 RCV003807123 RCV003801974 RCV003804559 RCV003817965 RCV003809484 RCV003809546 RCV003807528 RCV003807632 RCV003812966 RCV003812305 RCV003810253 RCV003810267 RCV003766850 RCV002497014 RCV000814441 RCV000824065 RCV000651094 RCV000651087 RCV001868183 RCV001861787 RCV005034251 RCV001855446 RCV001855554 RCV002530720 RCV001861841 RCV000763060 RCV003767949 RCV003768010 RCV001855614 RCV001384643 RCV002531287 RCV001377425 RCV001210219 RCV005034283 RCV000700276 RCV000823335 RCV000812646 RCV000792735 RCV000703852 RCV001049521 RCV001037577 RCV001041587 RCV001045358 RCV001207263 RCV001206922 RCV001203817 RCV001210779 RCV001221219 RCV001229984 RCV001233061 RCV001230569 RCV001230155 RCV001242664 RCV001250532
RTEL1-related disorder	Likely pathogenic; Pathogenic	rs1316931773, rs1205986855, rs1568717529, rs1285014916, rs1555901832, rs961593162, rs373740199	RCV004734368 RCV004729021 RCV004736399 RCV000662340 RCV004527730 RCV004535684 RCV004537250
See cases	Pathogenic; Likely pathogenic	rs2146153953, rs201540674	RCV002222295 RCV002222150
Telomere syndrome	Pathogenic	rs2517203592, rs2090699166	RCV003325419 RCV003325409

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Dyskeratosis congenita, autosomal dominant 1	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs143461704, rs142711955, rs142739953, rs772899702, rs374540895, rs373996455, rs746411863, rs1601119963, rs200565373, rs143248833, rs763882822, rs140629792, rs774564498, rs751146876, rs140564753 View all (12 more)	RCV001273111 RCV001275077 RCV001275085 RCV001275092 RCV001277147 RCV001272187 RCV001275078 RCV001275082 RCV001277146 RCV001272203 RCV001275086 RCV001277128 RCV001275076 RCV001277135 RCV001277141 RCV001272194 RCV001272195 RCV001275084 RCV001275079 RCV001277137 RCV001277144 RCV001275091 RCV001273114 RCV001272202 RCV001277133 RCV001272186 RCV001272204
Dyskeratosis congenita, autosomal recessive 1	Conflicting classifications of pathogenicity	rs2090574236	RCV005620404
Immunodeficiency	Benign; Likely benign	rs41306796	RCV000850293
Microcephaly	Uncertain significance	rs200933423, rs781481182	RCV001252867 RCV001252848
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Uncertain significance	rs1555812473	RCV000714661

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	29924316
Adrenocortical Carcinoma	Associate	35279598
Alveolitis Extrinsic Allergic	Associate	31268371
Anemia Aplastic	Associate	29344583
Astrocytoma	Associate	21203894, 23812731, 26014354
Atrophy	Associate	30823891
Autoimmune Diseases	Associate	37328761
Bone Marrow Failure Disorders	Associate	23329068, 29344583
Bone Marrow Failure Disorders	Inhibit	24561255
Brain Neoplasms	Associate	23115063, 26014354, 26839018, 28360516
Breast Neoplasms	Associate	28424414, 30303537, 39180489
Caroli disease isolated	Associate	27955658
Common Variable Immunodeficiency	Associate	35562849
Corneal dystrophy Avellino type	Associate	30995915
Coronary Disease	Associate	30623606
COVID 19	Associate	37328761
Craniodiaphyseal Dysplasia Autosomal Dominant	Associate	27955658
Cysts	Associate	37853975
Death	Associate	20368557
Developmental Disabilities	Associate	27955658
Drug Hypersensitivity	Associate	20462933
Dyskeratosis Congenita	Associate	23329068, 23453664, 24009516, 25848748, 29344583, 29522136, 29696773, 39240887
Dysplastic Nevus Syndrome	Associate	23300679
Eagle syndrome	Inhibit	26022962
Fibrosis	Associate	37328761
Genetic Diseases Inborn	Associate	24009516, 39180489
Glioblastoma	Associate	20368557, 21203894, 21356187, 26156397, 33169458
Glioma	Associate	19578366, 19578367, 20462933, 20847058, 21203894, 21356187, 21920947, 23115063, 23161787, 23280628, 23683922, 23733245, 23812731, 24231251, 26839018 View all (5 more)
Granulosa cell tumor of the ovary	Associate	23683922
Heredodegenerative Disorders Nervous System	Associate	24561255
Hoyeraal Hreidarsson syndrome	Associate	23329068, 23453664, 24009516, 25628358, 26810774, 32542379, 37853975, 39240887
Hydrocephalus	Associate	32816599
Idiopathic Interstitial Pneumonias	Associate	28066036
Idiopathic Pulmonary Fibrosis	Associate	25848748, 26022962, 28066036, 28099038, 29891356, 31034279, 31910222, 36602845
Immunologic Deficiency Syndromes	Associate	24009516
Inflammation	Associate	30159339
Leukemia	Associate	27207662
Leukocyte Disorders	Associate	31388112
Limb girdle muscular dystrophy type 2H	Associate	30823891
Lung Diseases Interstitial	Associate	25607374, 27540018, 29361909, 30523160
Lung Diseases Interstitial	Stimulate	28495692
Lung Neoplasms	Associate	27485611, 27765928, 29924316, 37167549
Macular Degeneration	Associate	31367973
Melanoma	Associate	23300679
Mood Disorders	Associate	29696773
Muscular Diseases	Associate	30823891
Muscular Dystrophies	Associate	30823891
Muscular Dystrophies Limb Girdle	Associate	37217920
Myelodysplastic Syndromes	Associate	27418648, 27449989, 29344583
Neoplasms	Associate	20597107, 29344583, 30623606, 32561545, 33515627, 39180489, 39240887, 40311306
Neoplasms	Inhibit	27485611
Neuroblastoma	Associate	27207662, 38001404
Nevus	Associate	23300679
Optic Nerve Glioma	Associate	30462709
Osteoporosis	Associate	28360516, 30623606
Osteosarcoma	Associate	27207662
Personality Disorders	Associate	35279598
Post Acute COVID 19 Syndrome	Associate	37328761
Pulmonary Disease Chronic Obstructive	Associate	28360516
Pulmonary edema of mountaineers	Associate	28953687
Pulmonary Fibrosis	Associate	25607374, 28953687, 30523160, 37328761
Telomeric 22q13 Monosomy Syndrome	Associate	29344583, 30115091
Thrombophilia	Associate	37098010

RTEL1 (regulator of telomere elongation helicase 1)