TERT (telomerase reverse transcriptase)

Gene

• Entrez ID: 7015
• Gene name: Telomerase reverse transcriptase
• Gene symbol: TERT
• Synonyms (NCBI Gene): CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34094720	G>A,T	Pathogenic, benign-likely-benign, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs34528119	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Intron variant, coding sequence variant, synonymous variant, missense variant
rs35719940	C>T	Likely-benign, risk-factor, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs111576740	T>C,G	Pathogenic	Splice acceptor variant
rs121918661	C>T	Likely-benign, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121918662	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121918663	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918664	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs121918665	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918666	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs141425941	C>T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs149566858	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs199422289	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422290	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs199422291	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422293	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422294	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422295	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422296	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422297	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199422298	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs199422299	G>C	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs199422300	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs199422301	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs199422302	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422303	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422304	G>A,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, missense variant, coding sequence variant, synonymous variant
rs199422305	G>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199422306	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199422307	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422308	TCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGTGGCC>-	Pathogenic	3 prime UTR variant, non coding transcript variant
rs199422309	C>T	Pathogenic	Splice donor variant
rs200174990	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs201159197	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs372511089	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs373400596	C>G	Benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs377639087	CTC>-,CTCCTC	Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Inframe insertion, non coding transcript variant, coding sequence variant, inframe deletion
rs387907247	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387907248	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs387907249	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs387907250	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs387907251	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs745590324	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs746621306	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs765566930	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs770066110	G>A,T	Pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs776981958	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs797046041	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797046042	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs878855300	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886039438	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs915854031	A>C,G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs989271195	G>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs1060502990	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060503011	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1196160200	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1388515349	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554038048	T>C	Likely-pathogenic	Non coding transcript variant, stop lost, terminator codon variant
rs1554038257	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554038539	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554040964	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554041299	C>R	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554042899	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554043041	GG>AA	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554043088	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554043124	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554043139	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1561213355	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1579580058	TA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579596470	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1579598699	G>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003991	hsa-miR-138-5p	qRT-PCR, Luciferase reporter assay, Western blot	18201269
MIRT003991	hsa-miR-138-5p	qRT-PCR, Luciferase reporter assay, Western blot	18201269
MIRT003991	hsa-miR-138-5p	Luciferase reporter assay	18201269
MIRT006931	hsa-miR-498	Luciferase reporter assay	23055531
MIRT016371	hsa-miR-193b-3p	Microarray	20304954
MIRT017613	hsa-miR-335-5p	Microarray	18185580
MIRT003991	hsa-miR-138-5p	Reporter assay;Other	18201269
MIRT053426	hsa-miR-512-5p	Microarray	23807165
MIRT053597	hsa-miR-1207-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24481448
MIRT053597	hsa-miR-1207-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24481448
MIRT053598	hsa-miR-1266-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24481448
MIRT053598	hsa-miR-1266-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24481448
MIRT054279	hsa-miR-1182	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25662441
MIRT054279	hsa-miR-1182	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25662441
MIRT437924	hsa-miR-181a-5p	GFP reporter assay, Luciferase reporter assay, qRT-PCR	25444904
MIRT530933	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT530932	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT530931	hsa-miR-6776-3p	PAR-CLIP	20371350
MIRT530934	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT530933	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT530932	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT530931	hsa-miR-6776-3p	PAR-CLIP	22012620
MIRT731988	hsa-miR-532-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731988	hsa-miR-532-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731988	hsa-miR-532-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731988	hsa-miR-532-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731989	hsa-miR-3064-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731989	hsa-miR-3064-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731989	hsa-miR-3064-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT731989	hsa-miR-3064-5p	Luciferase reporter assay, qRT-PCR	28291810
MIRT003991	hsa-miR-138-5p	qRT-PCR	25845814
MIRT053426	hsa-miR-512-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26258591
MIRT053426	hsa-miR-512-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26258591
MIRT003991	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	33737539
MIRT530933	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT530932	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT530931	hsa-miR-6776-3p	PAR-CLIP	20371350
MIRT530934	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT530933	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT530932	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT530931	hsa-miR-6776-3p	PAR-CLIP	22012620
MIRT003991	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34946880
MIRT1418364	hsa-miR-1234	CLIP-seq
MIRT1418365	hsa-miR-1307	CLIP-seq
MIRT1418366	hsa-miR-138	CLIP-seq
MIRT1418367	hsa-miR-3615	CLIP-seq
MIRT1418368	hsa-miR-4288	CLIP-seq
MIRT1418369	hsa-miR-4638-5p	CLIP-seq
MIRT1418370	hsa-miR-632	CLIP-seq
MIRT1418371	hsa-miR-767-3p	CLIP-seq
MIRT2347855	hsa-miR-4650-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BMI1	Repression	19903340
CTCF	Repression	16326864;19914212
DNMT1	Activation	19914212
E2F1	Activation	21411498;22207128
E2F1	Repression	21411498;22207128
ESR1	Activation	10805720;16690106;18754863
ESR2	Unknown	12122114
ETS1	Repression	20842112
ETS2	Unknown	14611815
ETV4	Activation	14678994
EWSR1	Activation	14678994
FLI1	Activation	14678994
FLI1	Unknown	14611815
HDAC1	Unknown	19587703
HIF1A	Activation	15048086;18754863
HOXA7	Unknown	20686504
ID2	Unknown	14611815
JUN	Repression	20842112
MAX	Unknown	12941894
MEN1	Repression	18754863
MXD1	Activation	21411498
MXD1	Repression	21411498
MXD1	Unknown	19912441
MYC	Activation	10022128;15595642;18226852;18754863;21132266;22207128
MYC	Unknown	10637317;12941894;14611815;15958520;17706770;18093727;19912441;21553143;24705139
MZF1	Repression	10871406
NFATC2	Unknown	19843528
NFKB1	Unknown	18541630
PAX5	Activation	19806612
PITX1	Repression	21300782
RELA	Unknown	18541630
SIRT1	Unknown	24416313
SMAD3	Repression	20842112
SMAD3	Unknown	16785237
SP1	Activation	18754863;21132266;21553143
SP1	Unknown	10637317;14611815;18093727;19843528;19912441
STAT3	Activation	20171193;23158658
TAL1	Unknown	19587703
TP53	Repression	10778946;18754863
TP73	Repression	16205639
USF1	Activation	12970752
USF1	Repression	12941894
USF1	Unknown	12044867
USF2	Activation	12970752
USF2	Repression	12941894
USF2	Unknown	12044867
WT1	Repression	18754863;20842112

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	21937513
GO:0000333	Component	Telomerase catalytic core complex	IBA
GO:0000333	Component	Telomerase catalytic core complex	IDA	9398860, 9443919, 16507993, 17940095, 18082603
GO:0000333	Component	Telomerase catalytic core complex	IEA
GO:0000333	Component	Telomerase catalytic core complex	IMP	11313459
GO:0000333	Component	Telomerase catalytic core complex	IPI	19701182
GO:0000333	Component	Telomerase catalytic core complex	NAS	20351177
GO:0000722	Process	Telomere maintenance via recombination	NAS	20351177
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	TAS	12135483
GO:0000781	Component	Chromosome, telomeric region	IC	12135483
GO:0000781	Component	Chromosome, telomeric region	IDA	25589350
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000783	Component	Nuclear telomere cap complex	IC	15632080
GO:0001172	Process	RNA-templated transcription	IDA	19701182
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	19571879
GO:0003677	Function	DNA binding	IDA	21937513
GO:0003677	Function	DNA binding	IEA
GO:0003720	Function	Telomerase activity	IBA
GO:0003720	Function	Telomerase activity	IDA	9398860, 9443919, 12135483, 16043710, 16507993, 17940095, 18082603, 21531765, 29695869
GO:0003720	Function	Telomerase activity	IEA
GO:0003720	Function	Telomerase activity	TAS	11927518, 14991929, 23474713, 23784080
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	16507993, 17940095, 18082603, 19701182, 20351177
GO:0003964	Function	RNA-directed DNA polymerase activity	IDA	21937513
GO:0003964	Function	RNA-directed DNA polymerase activity	IEA
GO:0003964	Function	RNA-directed DNA polymerase activity	TAS	25569094
GO:0003968	Function	RNA-directed RNA polymerase activity	IDA	19701182
GO:0005515	Function	Protein binding	IPI	11701125, 12377759, 12699629, 15044100, 15381700, 17237767, 17940095, 18082603, 18358808, 19179534, 19487455, 19567472, 19571879, 19843693, 21119197, 21829167, 21846770, 22011238, 22226966, 24550003, 25172512, 25589350, 28255170
GO:0005634	Component	Nucleus	IDA	21829167, 24415760
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	19567472
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005697	Component	Telomerase holoenzyme complex	IDA	12135483, 18082603, 29695869
GO:0005697	Component	Telomerase holoenzyme complex	IPI	19701182
GO:0005697	Component	Telomerase holoenzyme complex	NAS	20351177
GO:0005697	Component	Telomerase holoenzyme complex	TAS	10757788, 22527283
GO:0005730	Component	Nucleolus	IDA	22226966
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	NAS	26194824
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006278	Process	RNA-templated DNA biosynthetic process	IDA	9398860
GO:0006606	Process	Protein import into nucleus	IMP	25999477
GO:0007004	Process	Telomere maintenance via telomerase	IBA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	9443919, 16043710, 17940095, 19701182, 21531765, 29695869
GO:0007004	Process	Telomere maintenance via telomerase	IMP	9454332
GO:0007004	Process	Telomere maintenance via telomerase	NAS	2805070, 20351177
GO:0007005	Process	Mitochondrion organization	IDA	21937513
GO:0007507	Process	Heart development	IEA
GO:0016605	Component	PML body	IDA	19567472
GO:0016605	Component	PML body	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0022616	Process	DNA strand elongation	IDA	16043710
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IGI	19571879
GO:0030422	Process	SiRNA processing	IDA	19701182
GO:0031379	Component	RNA-directed RNA polymerase complex	IPI	19701182
GO:0031647	Process	Regulation of protein stability	IDA	24415760, 26194824
GO:0031647	Process	Regulation of protein stability	IMP	26194824
GO:0034061	Function	DNA polymerase activity	IEA
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	TAS	9288757
GO:0042635	Process	Positive regulation of hair cycle	IEA
GO:0042635	Process	Positive regulation of hair cycle	ISS
GO:0042645	Component	Mitochondrial nucleoid	IDA	21937513
GO:0042802	Function	Identical protein binding	IPI	23474713
GO:0042803	Function	Protein homodimerization activity	IDA	11432839
GO:0042803	Function	Protein homodimerization activity	IPI	23474713
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0046326	Process	Positive regulation of D-glucose import	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	10197982, 19751963
GO:0070034	Function	Telomerase RNA binding	IBA
GO:0070034	Function	Telomerase RNA binding	IDA	11432839
GO:0070034	Function	Telomerase RNA binding	IEA
GO:0070034	Function	Telomerase RNA binding	IPI	16507993, 17940095, 18082603, 19701182, 20351177
GO:0070200	Process	Establishment of protein localization to telomere	IDA	25589350
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	IMP	11313459
GO:0071897	Process	DNA biosynthetic process	IDA	9398860
GO:0090399	Process	Replicative senescence	IMP	9454332
GO:0098680	Function	Template-free RNA nucleotidyltransferase	IDA	19701182
GO:0140745	Process	SiRNA transcription	IDA	19701182
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	25569094
GO:1903620	Process	Positive regulation of transdifferentiation	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904751	Process	Positive regulation of protein localization to nucleolus	IDA	24415760
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA
GO:1990572	Component	TERT-RMRP complex	IDA	19701182
GO:1990572	Component	TERT-RMRP complex	IPI	19701182
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	ISS
GO:2000773	Process	Negative regulation of cellular senescence	IDA	11927518
GO:2000773	Process	Negative regulation of cellular senescence	IMP	11313459
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	10449030

Other IDs

• MIM: 187270
• HGNC: 11730
• e!Ensembl: ENSG00000164362

Protein

• UniProt ID: O14746
• Protein name: Telomerase reverse transcriptase (EC 2.7.7.49) (HEST2) (Telomerase catalytic subunit) (Telomerase-associated protein 2) (TP2)
• Protein function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromer
• PDB: 2BCK, 4B18, 4MNQ, 5MEN, 5MEO, 5MEP, 5MEQ, 5MER, 5UGW, 7BG9, 7QXA, 7QXB, 7QXS, 7TRD, 7TRE, 7TRF, 7V99
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12009	Telomerase_RBD	460 → 592	Telomerase ribonucleoprotein complex - RNA binding domain	Domain
  PF00078	RVT_1	802 → 915	Reverse transcriptase (RNA-dependent DNA polymerase)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at a high level in thymocyte subpopulations, at an intermediate level in tonsil T-lymphocytes, and at a low to undetectable level in peripheral blood T-lymphocytes. {ECO:0000269|PubMed:8676067, ECO:0000269|PubMed:9389643}.
• Sequence:

  MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPW
  DARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVR
  SYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGA
  ATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRGGSASRSLPLPKRPRR
  GAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
  RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRL
  VETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVT
  PAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGS
  RHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEI
  LAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
  LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKA
  LFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTI
  PQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHL
  QETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTL
  LCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
  RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTF
  NRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLP
  FHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLL
  KLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD

• Sequence length: 1132

Pathways

KEGG:

Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Telomere Extension By Telomerase
Formation of the beta-catenin:TCF transactivating complex

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
acute myeloid leukemia	Acute myeloid leukemia	rs797046041	N/A
Aplastic anemia	aplastic anemia	rs199422298, rs199422305	N/A
Dyskeratosis Congenita	dyskeratosis congenita, autosomal dominant 1, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita	rs1554041299, rs199422297, rs121918666, rs915854031, rs886039438, rs938938578, rs199422298, rs745590324, rs121918665, rs199422305, rs199422294, rs387907249, rs770066110	N/A
hepatocellular carcinoma	Hepatocellular carcinoma	rs1554040964, rs1554043088	N/A
Interstitial Lung Disease	Interstitial lung disease 2	rs121918666, rs199422308, rs111576740, rs199422300, rs387907247, rs199422309, rs199422294	N/A
Pulmonary Fibrosis	pulmonary fibrosis	rs199422305, rs199422294, rs1554038539, rs1554042899, rs121918666, rs938938578, rs199422297, rs199422300, rs1060502990, rs201159197	N/A
Pulmonary fibrosis and/or bone marrow failure	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	rs121918666, rs199422294, rs1554038539, rs199422305, rs111576740, rs199422300, rs387907247, rs1579598699, rs201159197, rs199422309, rs387907249, rs1554043041, rs387907250	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Anxiety Disorder	Anxiety	N/A	N/A	GWAS
Breast Cancer	Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative), Breast Cancer in BRCA1 mutation carriers, Malignant tumor of breast	N/A	N/A	GWAS, ClinVar
Breast cancer	Breast cancer (estrogen-receptor negative), Breast cancer	N/A	N/A	GWAS
Breast Carcinoma	breast carcinoma	N/A	N/A	ClinVar
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
chronic obstructive pulmonary disease	Chronic obstructive pulmonary disease	N/A	N/A	ClinVar
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Glioma	Glioma	N/A	N/A	GWAS
Hoyeraal-Hreidarsson Syndrome	Hoyeraal-Hreidarsson syndrome	N/A	N/A	GenCC
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Immunodeficiency	Inherited Immunodeficiency Diseases	N/A	N/A	ClinVar
Lung adenocarcinoma	Lung adenocarcinoma, Lung adenocarcinoma (conditioned on cigarettes per day), EGFR mutation-positive lung adenocarcinoma	N/A	N/A	GWAS
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Lymphoid leukemia	Lymphoid leukemia (PheCode 204.1)	N/A	N/A	GWAS
Melanoma	Melanoma, melanoma, cutaneous malignant, susceptibility to, 9	N/A	N/A	GWAS, GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Myelodysplasia	myelodysplasia	N/A	N/A	ClinVar
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	N/A	N/A	GWAS
neoplasm	Neoplasm	N/A	N/A	ClinVar
Osteomyelitis	chronic osteomyelitis	N/A	N/A	ClinVar
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS
Prostate cancer	Prostate cancer (late onset), Prostate cancer	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS
Testicular Germ Cell Tumor	Testicular germ cell tumor	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	19836008, 20700438, 23221128, 23738012, 24390616, 24420154, 26149460, 26425038, 26590902, 26980028, 27393504, 29924316, 31630874, 32257438, 33393640, 36670542, 37249797, 37848472
Adenocarcinoma Follicular	Associate	31077238, 31669704, 33197629, 34497362, 35864728, 36637642, 37486076, 38184773
Adenocarcinoma of Lung	Associate	20700438, 22370939, 23555636, 24390616, 24420154, 24761905, 25233467, 26497366, 26590902, 27191258, 27501781, 29859855, 32257438, 33879171
Adenoma	Associate	10429648, 24472434, 24898513, 28272680, 32932803, 37598154
Adenoma Liver Cell	Associate	37169258
Adenoma Pleomorphic	Associate	29946183, 34128136
Adenomatous Polyposis Coli	Associate	24472434, 37150235
Adenosarcoma	Associate	28267263
Adenosarcoma of the uterus	Associate	26592504
Adrenal Gland Neoplasms	Associate	24803525
Adrenocortical Carcinoma	Associate	25490274, 27165744, 29581542, 33285287, 34549366, 35279598
Aicardi Syndrome	Associate	24803525
Alternating hemiplegia of childhood	Associate	19684619, 34690007
Alzheimer Disease	Associate	33003434
Amyotrophic Lateral Sclerosis	Associate	26210997
Anemia Aplastic	Associate	15814878, 17640862, 23901009, 28813500, 40257477
Aneuploidy	Associate	25407517
Ankyloglossia	Associate	24101484
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	33076992
Aortic Aneurysm Thoracic	Associate	28245875
Arthritis Rheumatoid	Associate	33993221, 38003027, 40594127
Asphyxia	Associate	39220363
Asthma	Associate	20462933
Astrocytoma	Associate	15965488, 21203894, 23812731, 24722048, 25081751, 25797251, 26314843, 26617880, 26957363, 29650441, 30051528, 30082856, 31639630, 31889117, 31960234, 31984581, 32228694, 32619305, 32690110, 32805769, 34257410, 34558656, 34902093, 34902368, 36826144
Ataxia Telangiectasia	Associate	23833040, 31408918
Atherosclerosis	Associate	24465664, 26201603
ATR X syndrome	Associate	31960234
Barrett Esophagus	Associate	22901192
Basal cell carcinoma infundibulocystic	Associate	31669704
Biliary Atresia	Associate	33060611
Biliary Fistula	Associate	35135543
Bipolar Disorder	Associate	32114208
Bone Marrow Diseases	Associate	21349926
Bone Marrow Failure Disorders	Associate	15814878, 22507770, 30523342
Brain Neoplasms	Associate	23115063, 23530248, 26014354, 26597176, 26960334, 28049366, 29211306, 30187121, 34576156, 36637642, 40721593
Breast Neoplasms	Associate	16179497, 16398404, 17848914, 20056641, 21949822, 22037553, 22527105, 23136140, 23593120, 23629941, 24171766, 24216762, 25225064, 25491902, 26053551, 26832993, 29222734, 29497099, 30850363, 31669704, 33342785, 34493366, 34592152, 35563554, 36529814, 36549600, 36768147, 36823780, 36897999, 37305388, 37768037
Breast Neoplasms	Inhibit	17848914, 22527105
Calcifying Epithelial Odontogenic Tumor	Associate	33994539
Calcinosis Cutis	Associate	25407517, 29123258, 31483290, 34071371, 34108637, 34549366, 37169874, 37629169, 37922948
Cancer Pain	Associate	34282807
Cap Myopathy	Associate	21820706
Carcinogenesis	Associate	10429648, 15375434, 17009985, 17630431, 19337508, 21083788, 21180888, 22267287, 22351525, 22948024, 24416313, 24709822, 25301727, 25574106, 25737553, 26149460, 26700669, 28032863, 28583311, 28717007, 28754720, 28818973, 28951115, 29422527, 29449679, 30523342, 30850363, 31483290, 32228178, 32932803, 33562516, 33674765, 33967180, 34538872, 34971481, 35098380, 38055384, 39178758
Carcinogenesis	Stimulate	33836600
Carcinoma	Associate	15375434, 28587656, 28731042, 30051528, 30723294, 31991166, 32487254, 33761111, 34312479, 34949765, 36826144, 37465126
Carcinoma	Stimulate	29946183
Carcinoma Basal Cell	Associate	19578363, 24260374, 24691053, 26433962, 27029078, 32409749, 34001963
Carcinoma Bronchogenic	Associate	21622582
Carcinoma Hepatocellular	Associate	10732755, 14991929, 15849810, 17052260, 18281783, 20723213, 23000435, 23530248, 24101484, 24416313, 24866078, 25339005, 25574106, 25822088, 25843513, 26575952, 27056898, 27248174, 27276713, 27661004, 28056029, 28151853, 28302680, 28361674, 28416747, 28460432, 28677271, 28813500, 28833123, 28843658, 29180252, 29556353, 29628508, 29707886, 29967316, 30107175, 30142445, 30447097, 30531861, 31375600, 31408918, 31641155, 32170761, 32424223, 32581173, 32830343, 33063681, 33237575, 33338512, 33557409, 33992698, 34071075, 34209079, 34211467, 34538872, 34558819, 34558837, 34831479, 34949765, 34972704, 35306637, 35682861, 35962322, 36634747, 37160416, 37169258, 37769223, 37884663, 37918959, 37978846, 38184822, 40650279
Carcinoma Hepatocellular	Stimulate	28258914, 32025012
Carcinoma in Situ	Stimulate	28683471
Carcinoma in Situ	Associate	32533903, 33562516
Carcinoma Merkel Cell	Associate	25301727, 33909215
Carcinoma Mucoepidermoid	Associate	39549430
Carcinoma Non Small Cell Lung	Associate	12942569, 19414359, 24420154, 25198510, 26020272, 26149460, 27154632, 29141053, 31126249, 32605217, 33393640, 37531400, 37718447
Carcinoma Ovarian Epithelial	Associate	21949822, 31669704
Carcinoma Papillary	Associate	24121487, 28731042, 29552789, 31028363, 36906071
Carcinoma Renal Cell	Associate	23975423, 24742867, 25081752, 25155756, 28460432, 28951115, 29449679, 30610818, 31662560, 33061812, 36788061
Carcinoma Small Cell	Associate	24761905, 25042800
Carcinoma Squamous Cell	Associate	17359290, 23106581, 24260374, 25823555, 26700669, 26965579, 29562930, 33635430, 33637877, 34650187, 35225554, 37821306, 38086165, 39222919
Carcinoma Squamous Cell	Inhibit	24386361
Carcinosarcoma	Associate	29620581
Cardiac Output Low	Associate	32024823
Cardiomegaly	Associate	37643691
Cardiomyopathy infantile histiocytoid	Associate	39220363
Cardiovascular Diseases	Associate	20937264, 26201603
Carotid Body Tumor	Associate	34940133
Cataract Age Related Nuclear	Inhibit	21527554
Cell Transformation Viral	Associate	34048184
Central Nervous System Diseases	Associate	36382481
Central Nervous System Neoplasms	Associate	30183767, 31669704, 32843091
Cerebral Amyloid Angiopathy Familial	Associate	37071871
Cerebral Infarction	Associate	20937264, 26201603, 28057933
Cerebral Small Vessel Diseases	Associate	30769869, 39180127
Cerebrovascular Disorders	Associate	39180127
Cholangiocarcinoma	Associate	16237755, 16830373, 34476330, 34972704, 36788061, 37222808, 37337460
Chondrosarcoma	Associate	29463038, 30065261, 31615936, 34108637, 36042521, 36926116
Chordoma	Associate	30976795
Choristoma	Associate	33466206
Choroid Plexus Neoplasms	Associate	33249490
Chromosomal Instability	Associate	32879494
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	38438322
Chromosome 8 trisomy	Associate	19147845
Chromosome Aberrations	Associate	20460502
Cirrhosis Cryptogenic	Associate	23000435
Clear cell metastatic renal cell carcinoma	Associate	32661119
Colonic Neoplasms	Associate	16444744
Colorectal Neoplasms	Associate	12412163, 12970889, 15682468, 16489651, 17641414, 18038311, 18237388, 18694522, 22351525, 22878375, 22894902, 23279830, 24152305, 25845814, 27167335, 27627813, 27997899, 28176652, 28754720, 30970512, 31669704, 34059744, 34080453, 35213358, 36622089, 36834938
Colorectal Neoplasms	Stimulate	31186036
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	22948024, 34059744
Congenital Hypothyroidism	Associate	35556126
Conjunctival Diseases	Associate	37629169
Corneal dystrophy Avellino type	Associate	30995915
Coronary Artery Disease	Associate	36168588
Coronary Disease	Associate	24904205, 26201603, 36221106
COVID 19	Associate	40076669
Craniopharyngioma	Associate	33967180
Cri du Chat Syndrome	Associate	12629597, 17875000
Death	Associate	20502709, 25121551, 26461266, 26667986, 27562490, 28423545, 31772219, 33763035, 34019641
Diabetes Mellitus	Associate	29938393, 39903892
Diabetes Mellitus Type 2	Associate	29410390, 29938393
Diabetic Angiopathies	Associate	29410390
Disease	Associate	26667986, 30183767
Drug Related Side Effects and Adverse Reactions	Associate	26020272, 28373299, 31050187
Dyskeratosis Congenita	Associate	17381549, 17468339, 17507419, 17640862, 17785587, 17875000, 18042801, 18931339, 19558498, 22507770, 23335200, 23538340, 23901009, 25067791, 26859482, 31119896, 32744739
Dyskeratosis Congenita Autosomal Dominant	Associate	17640862, 17785587, 17875000, 18042801
Dyskeratosis Congenita Autosomal Recessive	Associate	17785587
Dystonic Disorders	Associate	18635888
Ectodermal Dysplasia	Associate	31483290
Emphysema	Associate	21622582
Endometrial Neoplasms	Associate	20549820, 21543766, 21846689, 25487306, 31669704, 37890416
Endometriosis	Associate	39735984
Ependymoma	Associate	20184588, 33755803
Epidermal Cyst	Associate	31119896
Epstein Barr Virus Infections	Associate	26018735
Esophageal Neoplasms	Associate	25007268, 26716642, 28060765
Esophageal Squamous Cell Carcinoma	Associate	25007268, 26716642, 34972704
Essential Hypertension	Associate	32922179
Familial ependymoma	Associate	28371821, 39864275
Familial medullary thyroid carcinoma	Associate	26870890, 31408918
Fatty Liver	Associate	23000435, 35306637
Fatty Liver Alcoholic	Associate	33992698
Fibroadenoma	Associate	33376197, 33727697
Fibrolamellar hepatocellular carcinoma	Associate	32663328
Fibroma	Associate	36897999
Fibrosis	Associate	19936245, 21349926, 21520173, 22853774, 23000435, 28813500, 30523342, 34558837
Gallbladder Diseases	Associate	25854384
Ganglioglioma	Associate	36647073
Ganglioneuroblastoma	Associate	37608330
Gastrointestinal Neoplasms	Associate	26372813, 28754720
Gastrointestinal Stromal Tumors	Associate	25248398, 26372813
Genetic Diseases Inborn	Associate	21349926, 21543794, 24338723, 32039783
Giant Cell Tumor of Bone	Associate	18204433
Giant Cell Tumors	Associate	18204433
Glioblastoma	Associate	21203894, 23530248, 23887589, 24101484, 24154961, 24709822, 24722048, 25081751, 25140036, 25681309, 25783747, 25797251, 25843513, 25977370, 26061753, 26087904, 26143636, 26452024, 26957363, 26960334, 27503138, 27571882, 27780202, 28526854, 28823044, 28851427, 28868656, 28915860, 29105198, 29449679, 29802247, 29941484, 29984907, 30159779, 30187121, 30333046, 30861589, 30991024, 31138764, 31435963, 31639630, 31655917, 32748499, 32843091, 32991787, 33009979, 33142244, 33148330, 33317554, 33509914, 33631540, 33642283, 33692446, 33735913, 33940787, 33969682, 34044551, 34558656, 34902093, 34952640, 35460557, 35738587, 35815721, 35864624, 36031351, 36114166, 36142729, 36271359, 36647073, 36694348, 36997627, 37230028, 37373295, 37400829, 37417289, 37418389, 37686092, 37741952, 37761833, 37891325, 37918959, 38054695, 38079020, 38141254, 39208202, 39327682, 39739534, 40244270, 40425623, 40542584
Glioma	Associate	19578367, 20462933, 20847058, 21203894, 21356187, 21742680, 22895663, 23115063, 23161787, 23280628, 23530248, 23733245, 23812731, 23833040, 23903690, 24231251, 24722048, 24908248, 24937153, 25081751, 25314060, 25783747, 25797251, 25843513, 26014354, 26061751, 26061753, 26175411, 26181761, 26223576, 26314843, 26369702, 26556853, 26617880, 26646793, 26681766, 26960334, 27655710, 27780202, 28823044, 28851427, 28868656, 28915860, 29016839, 29222734, 29460007, 29631594, 29650441, 29923492, 30076584, 30333046, 30346624, 30470264, 31391125, 31444316, 31623593, 31637414, 31655917, 31669704, 31889117, 31960234, 32111869, 32146731, 32509858, 32665022, 32748499, 32843091, 32882013, 32949176, 33051308, 33228806, 33417137, 33509914, 33963441, 33969682, 34114970, 34159191, 34490493, 34558656, 34589661, 34597382, 34690007, 35361262, 35532193, 35738587, 35864624, 35866817, 35931979, 35953846, 36031351, 36053463, 36176070, 36541697, 36647073, 36648487, 37105678, 37761833, 38134061, 39739534, 40420017, 40457320, 40721593
Glioma Subependymal	Associate	33755803
Gliosarcoma	Associate	24154961, 26443480, 34504233, 37761833
Glomerulonephritis IGA	Associate	33319642
Glucosephosphate Dehydrogenase Deficiency	Associate	37890416
Glutaric Acidemia I	Associate	30758123, 35294031
Graft vs Host Disease	Associate	29382801
Granulosa Cell Tumor	Associate	29449679, 30166312, 32203090, 34083028, 37565864
Granulosa cell tumor of the ovary	Associate	29449679
Hamartoma Syndrome Multiple	Associate	31960234
Head and Neck Neoplasms	Associate	21063414, 37462445, 39684472
Heart Diseases	Associate	20966039, 33660365
Heart Failure	Associate	33763035
Hematologic Neoplasms	Associate	20022961, 29222734
Hematuria	Associate	24018021
Hemoglobin SC Disease	Associate	38055384
Hepatitis B	Associate	27056898, 34071075
Hepatitis C	Associate	24866078, 27661004
Hepatitis C	Stimulate	28056029
Hepatitis C Chronic	Associate	27276713
Hepatoblastoma	Associate	33125945, 34538872, 37993930
Hepatolenticular Degeneration	Associate	40257477
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21949822, 23535731, 30467240, 33046803
HIV Infections	Associate	29577368, 33407441
Hodgkin Disease	Associate	21820706, 31050187
Hoyeraal Hreidarsson syndrome	Associate	17785587, 23335200, 23538340, 26810774
Hydatidiform Mole	Associate	28713902
Hypomagnesemia primary	Associate	27401842, 29562930
Hypoxia	Associate	24937153
Hypoxia Brain	Associate	24937153, 34592152
Idiopathic Interstitial Pneumonias	Associate	18635888
Idiopathic Noncirrhotic Portal Hypertension	Associate	33237575, 40650279
Idiopathic Pulmonary Fibrosis	Associate	19936245, 20502709, 20966039, 21349926, 21543794, 22364217, 23000435, 24434656, 27836952, 28066036, 28099038, 29382801, 29742735, 29891356, 30203795, 31034279, 31558622, 31653936, 31910222, 32212792, 33076992, 34370624, 36602845, 37777755
Ige Responsiveness Atopic	Associate	20462933
Immunologic Deficiency Syndromes	Associate	17785587
Immunologic Deficiency Syndromes	Inhibit	22853774
Infections	Stimulate	28056029
Inferior Wall Myocardial Infarction	Associate	28378855
Infertility Male	Associate	25539146
Inflammation	Associate	19936245, 20966039
Inflammation	Inhibit	37717172, 39988827
Influenza Human	Associate	25816015
Intestinal Diseases	Associate	10429648, 21180888, 32198650
Intestinal Neoplasms	Associate	31322481
Intraocular Lymphoma	Associate	36459980
Iron Overload	Associate	23000435
Keloid	Associate	19863817, 34600545
Keratosis Seborrheic	Associate	28410231
Kidney Neoplasms	Associate	32024823
Laryngeal Neoplasms	Associate	36013573
Leiomyoma	Associate	25843513
Lentigo	Associate	36572090
Lesch Nyhan Syndrome	Associate	33940787
Leukemia	Associate	18078517, 19147845, 20557672, 21356308, 21820706, 31126249, 34486523
Leukemia B Cell	Associate	20460502
Leukemia Large Granular Lymphocytic	Associate	26298771, 37142644
Leukemia Lymphocytic Chronic B Cell	Associate	27197291
Leukemia Lymphoma Adult T Cell	Associate	34477310
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	24970385
Leukemia Myeloid Acute	Associate	19147845, 19936245, 21431918, 25682873, 26298771, 27632567, 28813500, 29080039, 33780363, 34048184, 38002257, 39582863
Leukemia Plasma Cell	Associate	11237381
Leukocyte Disorders	Associate	31388112
Leydig Cell Tumor	Associate	33741265
Light Fixation Seizure Syndrome	Associate	31483290
Liposarcoma	Associate	19684619, 23530248, 26391479
Liposarcoma Myxoid	Associate	24726063, 26391479, 29463038, 34971481, 35672466
Liver Cirrhosis	Associate	22507770
Liver Cirrhosis Biliary	Associate	32024823
Liver Diseases	Associate	19936245, 23000435, 28677271, 30523342
Liver Failure	Associate	19936245
Lung Diseases	Associate	20966039, 21349926, 37364156
Lung Diseases Interstitial	Associate	24434656, 27111861, 33076992, 38003027
Lung Diseases Interstitial	Stimulate	28495692
Lung Neoplasms	Associate	15026805, 17052260, 18978790, 19151717, 19285750, 19836008, 20548021, 20700438, 21083788, 21622582, 21771723, 22430809, 22945651, 23228068, 23368278, 23370545, 23433592, 23454887, 23555636, 23738012, 24390616, 24420154, 24761905, 25198510, 25516442, 25789475, 26020272, 26138067, 26352532, 26425038, 26590902, 27393504, 27873319, 28843361, 29859855, 29924316, 31009812, 31126249, 31526458, 32257438, 33393640, 33906323, 35499292, 36437244, 37858127, 37993930
Lupus Erythematosus Systemic	Associate	33846459, 34337078
Lymphatic Metastasis	Associate	25121551, 25584719, 27472887, 28587656, 33776938, 34076961, 36415512, 36817603, 36946265, 37352166, 37859987, 37922948, 40184730
Lymphoma	Associate	33735913, 34576156
Lymphoma B Cell	Associate	20460502
Lymphoma B Cell Marginal Zone	Associate	20460502
Lymphoma Follicular	Associate	26020272
Lymphoma Mantle Cell	Associate	20460502, 26852175, 32584970
Lymphoma Non Hodgkin	Associate	31391125, 32509858, 33128602, 33864084, 36647073, 39684714
Lymphoma T Cell	Associate	34477310
Lymphoma T Cell Cutaneous	Associate	36833366
Lymphoma T Cell Peripheral	Associate	34477310
Lymphopenia	Associate	33846459
Macrocytosis Familial	Associate	19936245, 21349926, 25067791
Macular Degeneration	Inhibit	20352467
Macular Degeneration	Associate	36497103
Medulloblastoma	Associate	23530248, 24174164, 25843513
Melanoma	Associate	11407973, 19578363, 21116649, 23348506, 23530248, 23799844, 23833040, 23887589, 24030752, 24374110, 24569790, 24691053, 24866078, 25042800, 25217772, 25399693, 25407517, 25444926, 25789475, 25837821, 26082173, 26106605, 26327518, 26433962, 26553150, 26559571, 26607775, 26875008, 27181379, 27449293, 27911794, 27993549, 28146043, 28284778, 28373299, 28378855, 28489852, 28818973, 28854983, 29061376, 29123258, 29211306, 29222734, 29305225, 29449679, 30211730, 30451293, 30500343, 30657954, 30827467, 31203567, 31419753, 31425705, 31630191, 31756131, 32043781, 32267900, 32404956, 32483240, 32810393, 33009490, 33053175, 33122747, 33917086, 33982545, 34071371, 34898573, 34936949, 34946880, 35135543, 35469904, 35552752, 35642348, 35737508, 35871080, 36142729, 36356143, 37083005, 37169747, 37418389, 37462445, 37629169, 37918959, 37958811, 38030698, 38224873, 40056560
Melanoma Cutaneous Malignant	Associate	19151717, 23799844, 24030750, 24260374, 24423917, 24569790, 25217772, 26061100, 28373299, 30211730, 32483240, 33285287, 35225554
Meningioma	Associate	24261697, 25963524, 26668184, 26960334, 29216385, 30010853, 30796745, 35440040, 36264940, 36511679
Mental Disorders	Associate	33407441
Mesothelioma	Associate	37566084
Mesothelioma Malignant	Associate	23975423, 32083805
Metaplasia	Associate	28731047
Microscopic Polyangiitis	Associate	33076992
Mitochondrial Diseases	Inhibit	37643691
Mixed Tumor Malignant	Associate	35278815
Mouth Diseases	Associate	36812689
Mouth Neoplasms	Associate	21891916, 34381934
Mucoepidermoid Tumor	Associate	39549430
Multiple Myeloma	Associate	11237381, 21820706, 31814184, 37737335, 39769169
Multiple Sclerosis	Associate	26061100
Myelitis Transverse	Associate	37643691
Myelodysplastic Syndromes	Associate	22533337, 27418648, 27433923, 34019641, 34048184
Myoepithelioma	Associate	34128136, 39780157
Myotonic Dystrophy	Associate	37922948
Nasopharyngeal Carcinoma	Associate	21929825, 26621837, 31270100
Nasopharyngeal Neoplasms	Associate	31270100
Necrosis	Associate	29984907, 34001963
Neointima	Associate	35094384
Neoplasm Invasiveness	Associate	26943032
Neoplasm Metastasis	Associate	24569790, 25121551, 25407517, 25474136, 25584719, 25845814, 26061100, 26106605, 29123258, 30065261, 31026111, 32404956, 33466206, 33539547, 34108637, 34449926, 34502329, 34549366, 35360077, 36476950, 36637642, 36768147, 36906070, 37146205, 37364156, 37418389, 37922948
Neoplasms	Associate	10403642, 10544251, 10601322, 11313288, 11536162, 12065683, 12508361, 12937127, 15367406, 15726360, 16040278, 16179497, 16222316, 16331888, 16455633, 16475685, 16502485, 16521673, 16949075, 17009985, 17359290, 17964269, 18237388, 18281783, 18451136, 18540079, 18586674, 18829567, 19015635, 19151717, 19405125, 19589279, 19676053, 19908943, 19912441, 20044602, 20101243, 20394835, 20460502, 20543847, 20597107, 20628624, 20802237, 20813962, 21422235, 21858533, 21891916, 21949822, 21994403, 22351525, 22854964, 22878375, 22895663, 22948024, 23106581, 23284306, 23423542, 23530248, 23535731, 23887589, 23901009, 24018021, 24086482, 24097071, 24101484, 24121487, 24152305, 24154961, 24171766, 24174164, 24338723, 24377630, 24416313, 24423917, 24465664, 24550717, 24569790, 24691053, 24709822, 24726063, 24866078, 24898513, 25024077, 25027329, 25081751, 25098897, 25140036, 25155756, 25196853, 25209362, 25225064, 25248398, 25261935, 25296732, 25301727, 25474136, 25487306, 25574106, 25584719, 25671640, 25681309, 25682873, 25771075, 25797251, 25822088, 25823555, 25843513, 25847407, 25849990, 25854384, 25870252, 25977370, 26020272, 26053494, 26053551, 26061100, 26061753, 26106605, 26143636, 26149460, 26194807, 26232080, 26304545, 26391479, 26418880, 26433962, 26472030, 26515115, 26526580, 26553150, 26562774, 26575952, 26590793, 26617880, 26621837, 26700669, 26716642, 26727717, 26832993, 26843622, 26892443, 26934125, 26943032, 26953344, 26969876, 27061303, 27064992, 27172220, 27185198, 27270441, 27276713, 27365426, 27411289, 27437772, 27493271, 27556304, 27561898, 27562490, 27627813, 27655690, 27780202, 27807101, 27825130, 27856756, 27869826, 27893191, 28025427, 28049366, 28135248, 28236344, 28255664, 28284778, 28378855, 28416747, 28447668, 28460432, 28489852, 28572671, 28634282, 28704482, 28754720, 28802642, 28818973, 28823044, 28843658, 28939679, 28951115, 28984339, 29026176, 29045464, 29047144, 29123258, 29125889, 29180252, 29180607, 29211306, 29228527, 29244145, 29281820, 29422527, 29449679, 29463038, 29497099, 29562930, 29668478, 29885057, 29936725, 29941343, 29941484, 29946183, 29996110, 30076584, 30200646, 30205042, 30346624, 30350309, 30358567, 30416077, 30664813, 30692519, 30775237, 30827467, 30850363, 30872350, 30880778, 30887605, 30976795, 30991024, 31012486, 31044567, 31122840, 31126249, 31179925, 31203567, 31249199, 31320640, 31391125, 31408918, 31419753, 31444316, 31451652, 31481462, 31609466, 31662560, 31669704, 31699114, 31772219, 32000810, 32014051, 32023888, 32024823, 32025001, 32025007, 32047230, 32087194, 32091435, 32220885, 32228178, 32267900, 32276990, 32328646, 32388499, 32393293, 32409749, 32468444, 32483240, 32533903, 32619305, 32690110, 32810393, 32830343, 32843091, 32873778, 32879494, 32915437, 32920953, 32932803, 32991787, 33024200, 33051308, 33061812, 33092526, 33122747, 33197629, 33245585, 33247684, 33285287, 33305870, 33305893, 33317554, 33530592, 33562516, 33563643, 33713376, 33727697, 33735913, 33755803, 33836600, 33846459, 33864084, 33899270, 33909215, 33967180, 33969682, 33994539, 34040254, 34044551, 34059744, 34076961, 34083028, 34108637, 34117034, 34127009, 34209079, 34230114, 34302033, 34381934, 34399808, 34482792, 34489496, 34497362, 34506254, 34606615, 34618539, 34650187, 34661724, 34720085, 34831479, 34936949, 34940133, 34957975, 34972704, 34983823, 35135543, 35144313, 35177782, 35184152, 35225554, 35227290, 35275197, 35311230, 35439652, 35460557, 35469904, 35563554, 35713686, 35815721, 35864624, 36042521, 36114166, 36130485, 36180493, 36415512, 36433963, 36459980, 36476950, 36477537, 36528911, 36549600, 36585729, 36637642, 36694348, 36857998, 36997627, 37071871, 37352166, 37373295, 37418389, 37462445, 37465126, 37486076, 37505499, 37531400, 37565864, 37569841, 37608330, 37673201, 37761833, 37848472, 37856461, 37858127, 37859987, 37884663, 37889060, 37908048, 37918959, 37945655, 37993930, 38141254, 38155481, 38184773, 39596624, 39684714, 40156424, 40425623, 9288757, 9736034, 9914776
Neoplasms	Stimulate	24664581
Neoplasms	Inhibit	24708873, 29099504, 29628508, 33915956
Neoplasms Cystic Mucinous and Serous	Associate	31291979, 37890416
Neoplasms Germ Cell and Embryonal	Associate	20543847, 21617256, 35368045
Neoplasms Neuroepithelial	Associate	36647073
Neoplasms Second Primary	Associate	36717819
Neoplasms Squamous Cell	Associate	30316684
Neoplasms Unknown Primary	Associate	34302033
Neoplastic Syndromes Hereditary	Associate	27411289
Neuralgia	Associate	29099504, 34202213
Neuroblastoma	Associate	11696453, 15004408, 23417743, 26786290, 28546523, 31128432, 32291317, 33056981, 33915956, 35634846, 37608330
Nevus	Associate	30772300
Nevus Epithelioid and Spindle Cell	Associate	34075771
Nevus Pigmented	Associate	25268584, 28284778, 30772300
Nijmegen Breakage Syndrome	Associate	11448772
Non alcoholic Fatty Liver Disease	Associate	28677271
Non functioning pancreatic endocrine tumor	Associate	27411289
Non Muscle Invasive Bladder Neoplasms	Associate	24121487, 28683471, 31028363, 32023888, 32533903, 33562516, 35713686, 36198773, 38068899, 40156424
Obesity	Associate	22351525, 29938393, 33413203, 37800791
Obesity Maternal	Associate	39574146
Oligodendroglioma	Associate	24722048, 25081751, 25694352, 25843513, 27556304, 28255664, 28851427, 28915860, 32690110, 32843091, 33864084, 33899270, 34558656, 35864624, 35866817, 38141254
Optic Nerve Glioma	Associate	28255664
Osteosarcoma	Associate	28765565, 40389469, 40688111
Ovarian Diseases	Associate	39735984
Ovarian Neoplasms	Associate	14646192, 20628624, 22267287, 22623951, 23535731, 24338723, 25081752, 25375122, 29449679, 29620581, 31009812, 31291979, 33432021, 35816189, 36289203, 37889060
Pancreatic Neoplasms	Associate	11531263, 21080909, 22125638, 24577890, 24633336, 24642353, 25940397, 27411289, 27579533, 27797938, 31203567, 31917448, 34972704
Pancytopenia	Associate	25067791, 34048184
Papillary Thyroid Microcarcinoma	Associate	35360077, 35864728, 36817603
Papilloma	Associate	30838648, 33203919
Paraneoplastic Syndromes Ocular	Associate	38224873
Parkinson Disease	Stimulate	31051499
Pelvic Neoplasms	Associate	24742867, 25474136
Peri Implantitis	Associate	25406169
Peripheral Arterial Disease	Associate	23082138
Persistent Infection	Associate	37859987
Personality Disorders	Associate	26061100, 26875008, 26943032, 30166312, 31012486, 31391125, 31623671, 32415114, 35279598, 36142729, 39178758
Pheochromocytoma	Associate	15004408, 23785438, 24803525
Phyllodes Tumor	Associate	26355235, 26832993, 28267263, 29315289, 29497099, 31647027, 33046803, 33727697, 36823780, 39597083
Phyllodes Tumor of the Prostate	Associate	27255162, 28829509, 29497099
Pigmentation Disorders	Associate	37083005
Pituitary Diseases	Associate	36511679
Pituitary Neoplasms	Associate	28272680
Polycythemia Vera	Associate	29047144
Polyps	Inhibit	32932803
Post Acute COVID 19 Syndrome	Associate	26556853, 40076669
Precancerous Conditions	Associate	14716817, 21180888, 32198650
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20460502, 21914494
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22533337, 27433923, 34857839
Pregnancy Interstitial	Associate	40076669
Primary malignant melanoma of the cervix	Associate	26700669
Primary Myelofibrosis	Associate	27061303
Prodromal Symptoms	Associate	24617711, 26667986
Progeria	Associate	39988827
Prostatic Neoplasms	Associate	17712489, 20065320, 21160077, 21743467, 21820706, 23246478, 23535824, 23937305, 24651484, 25296732, 25997473, 26431041, 27437772, 28829509, 31669704, 32800727
Prostatitis	Associate	15816512
Pulmonary Disease Chronic Obstructive	Associate	31270965, 32212792, 33619289, 38003027
Pulmonary Fibrosis	Associate	19936245, 20022961, 20502709, 21543794, 22507770, 22863003, 23901009, 25539146, 25612863, 27836952, 33993221
Purpura Thrombotic Thrombocytopenic	Associate	34490493
Rectal Neoplasms	Associate	22351525
Renal Insufficiency	Associate	34381934
Renal Insufficiency Chronic	Associate	38197421
Respiratory Distress Syndrome	Associate	40076669
Respiratory Tract Infections	Associate	24742867, 25474136, 26934125, 29396293, 30887605, 37640571
Retinoblastoma	Associate	28682440
Revesz Debuse syndrome	Associate	25067791
Rhabdomyosarcoma	Associate	31669704, 33530592
Ring Chromosome 20 Syndrome	Associate	31483290
Rufous oculocutaneous albinism	Associate	39220363
Sarcoma	Associate	24030750, 24726063, 26391479, 29099504, 29463038, 32024823, 34202213, 35705560
Sarcoma Clear Cell	Associate	35347249
Sarcoma Ewing	Associate	30976795
Sarcoma Kaposi	Associate	11313352
Scleroderma Diffuse	Associate	27111861
Secretory breast carcinoma	Associate	36585729
Severe Acute Respiratory Syndrome	Associate	40076669, 40257477
Sick Sinus Syndrome	Associate	29620581
Sinonasal undifferentiated carcinoma	Associate	33203919, 36946265
Skin Diseases	Associate	23887589, 37083005
Skin Neoplasms	Associate	21116649, 29211306
Soft Tissue Neoplasms	Associate	12209700
Solitary Fibrous Tumors	Associate	24154961, 27562490, 33009490
Spastic paraplegia 23	Associate	21349926
Splenomegaly	Associate	37884663
Spondylometaepiphyseal Dysplasia Short Limb Hand Type	Associate	36572090
Squamous Cell Carcinoma of Head and Neck	Associate	17923759, 19015635, 20802237, 23530248, 25612142, 25771075, 26700669, 26857734, 28025427, 28236344, 28814981, 31093971, 31772219, 32576588, 34001963, 36415512, 39432990
Squamous Cell Carcinoma of Head and Neck	Inhibit	32576588
Status Asthmaticus	Associate	29339735
Stomach Neoplasms	Associate	10429648, 12174361, 12632490, 14716817, 15040021, 15526376, 18158559, 21180888, 23432846, 24481448, 26309358, 27825130, 28423629, 32502020, 9914776
Stomach Ulcer	Stimulate	21180888
Stroke	Associate	26201603
Sveinsson Chorioretinal Atrophy	Stimulate	34493366
Telomeric 22q13 Monosomy Syndrome	Associate	21527554, 26857734, 28813500, 29194355, 30523342, 34019641, 34565437
Telomeric 22q13 Monosomy Syndrome	Inhibit	25682873
Teratoma	Associate	20543847
Testicular Diseases	Associate	33741265, 35368045
Testicular Germ Cell Tumor	Associate	26526580
Testicular Neoplasms	Associate	21564132
Thrombocytopenia	Associate	25067791
Thymic epithelial tumor	Associate	25843513
Thyroid cancer follicular	Associate	23766237, 24617711
Thyroid cancer Hurthle cell	Associate	23833040
Thyroid cancer medullary	Associate	26870890, 31408918
Thyroid Cancer Papillary	Associate	18201269, 23766237, 23833040, 24617711, 25024077, 25870252, 26461266, 26667986, 26727717, 26943032, 27064992, 27185198, 27875244, 28049366, 28150740, 28423545, 28731042, 29214440, 29901196, 30200646, 30265861, 30361901, 30501571, 30916166, 31026111, 31300059, 31375570, 31408918, 32393293, 33305870, 33466206, 33776938, 33821390, 34076961, 35556126, 35864728, 37146205, 37364156, 37382944, 37569841, 37922948, 38113409, 39315956, 40033809, 40184730, 40214357, 40394531
Thyroid Carcinoma Anaplastic	Associate	18201269, 23766237, 25584719, 26878173, 28423545, 28489587, 28634282, 30758123, 31235699, 32284020, 32421817, 34972706, 35864728, 38044137
Thyroid Neoplasms	Associate	10598207, 15816620, 23766237, 23833040, 23887589, 24617711, 24898513, 25121551, 25584719, 26727717, 26969876, 27472887, 27493271, 27852061, 28049366, 28195142, 28587656, 29222734, 29552789, 29901196, 30361901, 30664813, 30884810, 31235699, 31408918, 31669704, 32228178, 32415114, 32421817, 33197629, 33305870, 33539547, 33776938, 33790328, 33821390, 34076961, 34702207, 34972706, 35864728, 36382481, 36984536, 37081757, 37144982, 37352166, 37462445, 37465126, 37505499, 37859987, 37879236, 37922948, 37948420, 38165228, 38277563, 38441247, 39178758, 39220363, 39390090, 39490534, 40214357
Thyroid Nodule	Associate	25121551, 30916166, 31623671, 33247684, 34075760, 34076961, 34702207, 37505499, 38441247
Thyroiditis	Associate	23887589, 27852061, 34076961, 34702207
Tobacco Use Disorder	Associate	25233467, 32257438
Tongue Neoplasms	Associate	28939077
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	39327682
Triple Negative Breast Neoplasms	Associate	22037553, 23136140, 24325915, 29222734, 34493366, 36768147, 37575241, 39819723
Trophoblastic Neoplasms	Associate	36788063
Trophoblastic Tumor Placental Site	Associate	36788063
Tyrosine Kinase 2 Deficiency	Associate	32991787
Ureteral Neoplasms	Associate	25474136, 27029078
Urethral Diseases	Associate	33562516
Urethral Neoplasms	Associate	23530248, 24121487, 25042800, 25722414, 25843513, 26965579, 26980028, 27520411, 28802642, 29396293, 30447301, 31122840, 31348552, 31630874, 31932679, 32313185, 32532529, 32533903, 33674765, 33980590, 34127009, 36906071, 37598154, 38219954
Urethritis	Associate	32533903
Urinary Bladder Diseases	Associate	23887589, 32533903, 35135543, 36906071
Urinary Bladder Neoplasms	Associate	19214569, 21081471, 23348506, 24018021, 24101484, 24121487, 24742867, 25225064, 25474136, 25657201, 25775949, 26433962, 26743236, 26901314, 26980028, 27611947, 28802642, 30350309, 30401719, 30447301, 31028363, 31669704, 32023888, 32081602, 32091435, 32533903, 33562516, 33674765, 34518220, 35033028, 36142729, 36430798, 36462464, 37800791, 37918959, 37945655, 39596624, 40156424, 40594127
Urinary Bladder Neoplasms	Stimulate	28683471
Urologic Neoplasms	Associate	23530248
Uterine Cervical Dysplasia	Associate	17359290, 23106581
Uterine Cervical Neoplasms	Associate	15710386, 17359290, 21319134, 26700669, 31249199, 35098380, 35610285, 9736034
Uterine Cervicitis	Associate	26700669, 35098380
Uterine Diseases	Stimulate	39735984
Uveal melanoma	Associate	24423917, 36459980
Uveal Neoplasms	Associate	23799844
Vasculitis	Associate	33076992
Vulvar Neoplasms	Associate	25823555, 34454393
Waldenstrom Macroglobulinemia	Associate	30447301
Wilms Tumor	Associate	21553236, 35184066, 35617957, 37756569