RTEL1 (regulator of telomere elongation helicase 1)

Gene

• Entrez ID: 51750
• Gene name: Regulator of telomere elongation helicase 1
• Gene symbol: RTEL1
• Synonyms (NCBI Gene): C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040125	hsa-miR-615-3p	CLASH	23622248
MIRT732881	hsa-miR-4530	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western 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

Gene ontology (GO)

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

Other IDs

• MIM: 608833
• HGNC: 15888
• e!Ensembl: ENSG00000258366

Protein

• UniProt ID: 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

Pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of blood and blood-forming tissues	Pathogenic	rs1415449695	RCV001814212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Action myoclonus-renal failure syndrome	Likely pathogenic	rs2517017153	RCV003126211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1555903332	RCV001172446	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 3	Likely pathogenic; Pathogenic	rs373740199	RCV005862960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation defect type 24	Likely pathogenic	rs2145431062	RCV005411734	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita	Likely pathogenic; Pathogenic	rs1568703403, rs2145431062, rs1421904176, rs1285773934, rs776744306, rs863225129, rs2517134527, rs2090581105, rs1373020489, rs1555899096, rs1555903332, rs1555814400, rs80224512, rs1555899111, rs201540674, rs370343781, rs398123017, rs773025155, rs1555814334, rs377461417, rs1449687529, rs373740199, rs2090461817	RCV001831374 RCV001831354 RCV002238667 RCV005608882 RCV000590169 RCV000588351 RCV005608851 RCV005610614 RCV005610617 RCV000503722 RCV000503881 RCV000502122 RCV001276031 RCV000587587 RCV000586517 RCV000586033 RCV000589642 RCV005606693 RCV005606698 RCV001829829 RCV001829840 RCV000826213 RCV000502656 RCV001833989	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, autosomal dominant 4	Likely pathogenic; Pathogenic	rs373740199, rs398123052	RCV000055639 RCV000055640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita, autosomal recessive 5	Likely pathogenic; Pathogenic	rs2090461817, rs1568703403, rs1444392809, rs2145431062, rs2145476311, rs2145480981, rs2146150691, rs2145411193, rs2090629495, rs1367858373, rs2090684427, rs2145434954, rs2090784564, rs777109448, rs2145471381, rs1555814207, rs1363124795, rs1385101139, rs906116592, rs368311594, rs2090573767, rs2145411185, rs2145480992, rs2145430921, rs764058481, rs2145477500, rs2146149228, rs2146153920, rs2145412626, rs2145431569, rs2145439154, rs2145421181, rs2146211234, rs2145480213, rs2146197831, rs2145480909, rs1370553261, rs2145432198, rs1316931773, rs2145430878, rs1205986855, rs929898540, rs2145411399, rs771746222, rs2146141304, rs2145411479, rs2145427564, rs2145411302, rs2145445706, rs2146141455, rs2090696292, rs2145479688, rs1421904176, rs2145448526, rs1457184127, rs1238498783, rs1285773934, rs2090675337, rs2517170616, rs2517138758, rs2516986131, rs2516997767, rs2517154868, rs1424161739, rs2517068790, rs765792997, rs2517134736, rs1274681944, rs2517169913, rs2517111998, rs2517112417, rs2517165410, rs2517068279, rs776744306, rs863225129, rs2517186228, rs2517194487, rs2517140345, rs2517165422, rs2517134527, rs2517132595, rs2516994367, rs2090699833, rs2517166188, rs2517119057, rs2516997347, rs2517148169, rs2516992827, rs2517010029, rs2516999509, rs2517134841, rs2517139063, rs2517140972, rs2517165249, rs2517166359, rs1281899571, rs2517164471, rs2517138611, rs537751924, rs2517197688, rs2090696366, rs2517039725, rs2517164767, rs2517040329, rs2517096911, rs2517096837, rs2517164422, rs2517096977, rs779810410, rs140411308, rs2517119949, rs2517166376, rs2516994656, rs2517119770, rs1389016317, rs1568717529, rs2517135025, rs2517170083, rs1188257054, rs2090581105, rs2516998156, rs2517116632, rs2517141332, rs1373020489, rs2517138765, rs2517170691, rs768610590, rs2517039957, rs2517134750, rs2517040332, rs2517201429, rs1446832873, rs2145471794, rs2517122415, rs2517154875, rs2517155046, rs2517140063, rs2517202795, rs2517140415, rs2517201426, rs1345874407, rs979068387, rs1555812228, rs2517068544, rs1569085580, rs2517203807, rs1555903332, rs80224512, rs201540674, rs370343781, rs398123017, rs1555899932, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812480, rs1555899773, rs1555811386, rs1555813123, rs1161373315, rs1555901832, rs961593162, rs1555813144, rs1415449695, rs1555814334, rs980695424, rs778734749, rs1555901000, rs780546933, rs1263776141, rs377024903, rs1555811966, rs1555812178, rs752833281, rs1555812834, rs1555814044, rs377461417, rs776525427, rs1449687529, rs1601133145, rs1363658406, rs1601163764, rs398123048, rs398123051, rs373740199, rs2090027846, rs2090639016, rs2090792717, rs2090933372, rs2090805858, rs2090043175, rs2090722556, rs1278121916, rs866637461, rs2090789401, rs2090682958, rs768188490, rs2090929102, rs2090026700	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, X-linked	Pathogenic	rs1386490624	RCV002464981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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, rs2145471381, rs1555814207, rs1363124795, rs1385101139, rs906116592, rs368311594, rs2090573767, rs2145411185, rs2145480992, rs2145430921, rs764058481, rs2145477500, rs2146149228, rs2146153920, rs2145412626, rs2145431569, rs2145439154, rs2145421181, rs2146211234, rs2145480213, rs2146197831, rs2145480909, rs1370553261, rs2145432198, rs1316931773, rs2145430878, rs1205986855, rs929898540, rs2145411399, rs771746222, rs2146141304, rs2145411479, rs2145427564, rs2145411302, rs2145445706, rs2146141455, rs2090696292, rs1421904176, rs863223336, rs786205702, rs1457184127, rs1238498783, rs1285773934, rs2090675337, rs2517170616, rs2517138758, rs2516986131, rs2516997767, rs2517154868, rs1424161739, rs2517068790, rs765792997, rs2517134736, rs1274681944, rs2517169913, rs2517111998, rs2517112417, rs2517165410, rs2517068279, rs863225053, rs776744306, rs863225129, rs2517186228, rs2517194487, rs2517140345, rs2517165422, rs2517134527, rs1555811762, rs2517010029, rs140411308, rs2517119949, rs2517166376, rs2516994656, rs2517119770, rs1389016317, rs1568717529, rs2517135025, rs2517170083, rs1188257054, rs2090696366, rs2090581105, rs2516998156, rs2517116632, rs2517141332, rs1373020489, rs2517138765, rs2517170691, rs768610590, rs2517039957, rs2517134750, rs2517040332, rs2517201429, rs1446832873, rs2145471794, rs2517122415, rs2517154875, rs2517155046, rs2517140063, rs2517202795, rs2517140415, rs2517201426, rs1555903332, rs80224512, rs201540674, rs370343781, rs398123017, rs1555899932, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812480, rs1555811386, rs1555901832, rs961593162, rs1555813144, rs1555814334, rs780546933, rs377024903, rs752833281, rs377461417, rs776525427, rs1449687529, rs1601133145, rs1363658406, rs1601163764, rs373740199, rs2090027846, rs2090639016, rs2090792717, rs2090933372, rs2090043175, rs2090722556, rs1278121916, rs866637461, rs2090789401, rs2090682958, rs768188490, rs2090929102, rs2090026700, rs2090699166	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RTEL1-related disorder	Likely pathogenic; Pathogenic	rs1316931773, rs1205986855, rs1568717529, rs1285014916, rs1555901832, rs961593162, rs373740199	RCV004734368 RCV004729021 RCV004736399 RCV000662340 RCV004527730 RCV004535684 RCV004537250	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telomere syndrome	Pathogenic	rs2517203592, rs2090699166	RCV003325419 RCV003325409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANORECTAL MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-CENTROMERE-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita, autosomal dominant 1	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis congenita, autosomal recessive 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED DYSKERATOSIS CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	29644723, 7658716, 7703490		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12511417, 31261152, 7703490		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29924316		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35279598	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26081619, 31261152		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12511417, 15024721, 30170444		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	18179710, 18729853, 22672495, 23818366, 26183240, 28730684, 29127596, 29540849, 30481598		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31367973		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	27931534		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	31268371	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	20212223		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	29344583	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	29785011, 30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	21203894, 23812731, 26014354	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23812731, 26014354		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	30823891	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28288719, 31464663		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37328761	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10406897, 10705820, 11042528, 12055673, 24862097, 25773122, 29143724, 29188315, 29549134, 30272309, 3491176		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7949188		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	30823891		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	23329068, 29344583	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	24561255	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23115063, 26839018, 29191977, 30958583		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23115063, 26014354, 26839018, 28360516	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	26220142, 30303537		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15360007, 26081619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28424414, 30303537, 39180489	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10485273, 12055673, 12368208, 21127431, 25677902, 29050199, 8172807, 9308229, 9720711		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27485611, 27765928, 29924316, 31471061		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	19578366, 19578367, 21531791, 22886559, 24908248, 26424050, 28346443		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASDB_DG	19578366, 24908248		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	1829873		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	30805374		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29383136, 30345460		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26081619, 31261152		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	12430927		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12368208, 14602240, 18729853, 27197291, 28220479, 28494631, 29644723, 29750316, 30725204, 30753270, 30874349, 7949188		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	35562849	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11516111, 14752867, 1643018		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16330681		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	30995915	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30623606		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30623606		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30623606	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30623606		★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal Dysplasia Autosomal Dominant	Craniodiaphyseal dysplasia	Pubtator	27955658	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASDB_DG	21666691		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	26482879		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27955658	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12511417, 15024721, 18648906, 23056634, 24627195, 24862097, 25677902, 25779000, 28494631, 29660176, 29750316, 30170444, 9720713		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	23329068, 23453664, 23935105, 24009516, 24130156, 25848748, 28507545, 29344583, 29696773		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG	23329068, 23453664, 23829372, 23959892, 24009516, 24582487, 25607374, 25848748, 26025130		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	23329068, 23453664, 24009516, 25848748, 29344583, 29522136, 29696773, 39240887	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	ORPHANET_DG	23453664		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4	DYSKERATOSIS CONGENITA	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4	DYSKERATOSIS CONGENITA	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	Dyskeratosis Congenita	CLINVAR_DG	19461895, 23329068, 23453664, 23959892, 24009516, 25047097, 25099625, 25607374, 25620558, 26025130, 26808564, 27128385, 27415407, 27418648, 28099038, 28930861		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	23329068, 23453664, 23591994, 23959892, 24582487, 28495916, 29146883		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	Dyskeratosis Congenita	UNIPROT_DG	23329068, 23453664, 23591994, 23959892, 24009516		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	Dyskeratosis Congenita	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysplastic Nevus	Dysplastic Nevus	BEFREE	23300679		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27115168		★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	15133473		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28351614		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	18179710		★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	25848748		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	20368557, 21203894, 21350045, 21356187, 24582487, 26156397, 31721021		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20368557, 21203894, 21356187, 26156397, 33169458	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	GWASCAT_DG	26424050, 28346443, 30152087		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20368557, 21203894, 21350045, 21356187, 26156397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	GWASCAT_DG	26424050, 28346443, 30152087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	19578366, 19578367, 21531791, 22886559, 24908248, 26424050, 28346443, 29743610, 30714141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASDB_DG	19578366, 19578367, 21531791, 22886559, 24908248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	19578366, 19578367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19578366, 19578367, 20462933, 20847058, 21203894, 21356187, 21920947, 23115063, 23161787, 23280628, 23683922, 23733245, 23812731, 24231251, 26839018, 30462709, 33169458, 34477880, 36541697, 39180489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	19578367, 20462933, 20847058, 21350045, 21356187, 21742680, 21825990, 21920947, 22387365, 23115063, 23161787, 23280628, 23683922, 23733245, 24231251, 24523019, 25227808, 25556444, 25713050, 26839018, 26939676, 28985021, 30462709, 31721021		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamman-Rich Disease	Diffuse interstitial pulmonary fibrosis	CTD_human_DG	25848748		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	25848748		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	16330681		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	29414429		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	17786720, 29880247		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	23132846		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	28953687		★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	BEFREE	11042528		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11719382, 12885465, 18179710, 18729853, 22267549, 22672495, 23818366, 26183240, 28730684, 29127596, 29414429, 29540849, 29644723, 7544647, 7662979, 7833007		★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	23329068, 23453664, 24009516, 25628358, 26810774, 32542379, 37853975, 39240887	Associate	★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	23329068, 23453664, 23591994, 23959892, 24009516, 24130156, 25047097, 26847928, 29408234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	ORPHANET_DG	23329068, 23453664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	Pubtator	32816599	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CLINVAR_DG	25607374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	25848748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	25848748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25848748, 26022962, 28066036, 28099038, 29891356, 31034279, 31910222, 36602845	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27540018, 27630174, 29891356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	BEFREE	15279585, 21866115		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	16034467		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28057933		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10918215, 22740451, 28730684, 7662979, 8916968		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12681364, 17786720, 23132846, 30081670, 30753270		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27207662	Associate	★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2	Lymphoblastic Leukemia	BEFREE	29768710		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8876635		★☆☆☆☆ Found in Text Mining only
Leukocyte Disorders	Leukocyte disorders	Pubtator	31388112	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29230030		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	25607374, 27540018, 29361909, 30523160	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	28495692	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27485611, 27765928, 29924316, 37167549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	28604730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	11042528, 12055673, 12107101, 14602240, 14704634, 16213748, 1829873, 19885551, 22672495, 23818366, 25133503, 27115168, 28144804, 28149648, 28494631, 29419687, 30753270, 31180334, 31464663, 9720713, 9758353		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	12368208, 12511417, 24862097, 29750316, 30779036, 31322189, 9720711		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	29399699, 31180334		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10755547, 14528290, 15024721, 16330681, 17215862, 19679882, 21866115, 25044415, 29399699, 31180334, 7703490, 7795235, 8876635, 9747876		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	10755547, 14528290, 15024721, 16330681, 17215862, 19679882, 25044415, 29399699, 31180334, 8876635, 9747876		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	28507545		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	14752867, 17802906		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31367973	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	19578366, 19578367		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24582487		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30170444, 8897513, 9354678		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27459707, 27485611, 27765928, 29924316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	28604730		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15279585, 1847310, 18957201, 20597107, 24582487, 25556444, 27765928, 29457365, 29540849, 29880247, 30623606, 9720713		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26081619		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31308919		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28424414		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22687450, 23056634, 24862097, 30170444, 8086622, 8897513, 9354678		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	10913669		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23300679, 29175263		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23300679	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mixed gliomas	Glioma	CTD_human_DG	19578366, 19578367		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29696773	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10214873, 12511417, 1829873, 26081619, 28843110, 29540849, 29644723, 30753270, 9308229		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17994549		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27449989		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27418648, 27449989, 29344583	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12574966		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30823891		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10037001, 10449776, 10913669, 11013271, 11042528, 11832678, 1325169, 15475076, 17284327, 19046801, 20029944, 21203894, 21698185, 24184969, 2852027, 29262721, 30139816, 31471061, 9001420		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27207662, 29880247		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27207662, 38001404	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	28360516, 30623606	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27207662		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27207662	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	23329068, 24561255, 28507545, 29880247		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	10830738		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	26014354		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29768710, 3495288, 8876635		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	3495288		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12511417, 16738692, 2852027, 28983060		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17284327, 19245433		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	16784778		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	20189883		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28360516	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28953687	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25607374, 25848748, 26022962, 27540018, 28953687, 30978332		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	25607374, 28953687, 30523160, 37328761	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	Pulmonary fibrosis and/or bone marrow failure	CLINVAR_DG	19461895, 23329068, 23453664, 23959892, 24009516, 25047097, 25099625, 25607374, 25620558, 26025130, 26808564, 27128385, 27418648, 28099038, 28930861		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	Pulmonary fibrosis and/or bone marrow failure	GENOMICS_ENGLAND_DG	23959892, 24582487, 25848748, 29146883		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	Pulmonary fibrosis and/or bone marrow failure	UNIPROT_DG	25848748		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	Pulmonary fibrosis and/or bone marrow failure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	12055673		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9001420		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	17284327		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	29344583		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19245433, 30170444, 8608250		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	29344583, 30115091	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	37098010	Associate	★☆☆☆☆ Found in Text Mining only
Tumor Lysis Syndrome	Tumor Lysis Syndrome	BEFREE	28378140, 31308919		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	12691541		★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	23329068, 23591994, 23959892, 24009516, 25047097, 26847928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	23589280, 9758353		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	23935105		★☆☆☆☆ Found in Text Mining only