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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25913
Gene name Gene Name - the full gene name approved by the HGNC.	Protection of telomeres 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POT1
Synonyms (NCBI Gene) Gene synonyms aliases	CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q31.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere len

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777473	C>T	Risk-factor	Splice acceptor variant
rs587777474	G>C	Risk-factor	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs587777476	C>A,T	Risk-factor, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587777477	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs587777478	C>G	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs750470470	->A	Likely-pathogenic, uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758673417	AT>-	Likely-pathogenic, uncertain-significance, risk-factor	Non coding transcript variant, coding sequence variant, frameshift variant
rs762679439	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs797045168	C>A	Uncertain-significance, risk-factor	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs797045169	C>A	Risk-factor	Coding sequence variant, non coding transcript variant, stop gained
rs866612394	C>T	Uncertain-significance, pathogenic	Splice acceptor variant
rs1064794328	A>-	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1202302799	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1397398300	CT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1562997292	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1584757180	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584777802	AG>TTTAAACTAAAGAAACTTCATAGTTTC	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, inframe indel

Show/Hide all(196)

miRTarBase ID	miRNA	Experiments	Reference
MIRT516763	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550961	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550960	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550966	hsa-miR-8485	PAR-CLIP	21572407
MIRT550965	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT550964	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT550963	hsa-miR-603	PAR-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550961	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550960	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550958	hsa-miR-3941	PAR-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516762	hsa-miR-33a-3p	PAR-CLIP	23446348
MIRT516761	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT516760	hsa-miR-4762-5p	PAR-CLIP	23446348
MIRT516759	hsa-miR-8068	PAR-CLIP	23446348
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516757	hsa-miR-3149	PAR-CLIP	23446348
MIRT735149	hsa-miR-185-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, In situ hybridization	32687062
MIRT516763	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550961	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550960	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550966	hsa-miR-8485	PAR-CLIP	21572407
MIRT550965	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT550964	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT550963	hsa-miR-603	PAR-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550961	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550960	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550958	hsa-miR-3941	PAR-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516762	hsa-miR-33a-3p	PAR-CLIP	23446348
MIRT516761	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT516760	hsa-miR-4762-5p	PAR-CLIP	23446348
MIRT516759	hsa-miR-8068	PAR-CLIP	23446348
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516757	hsa-miR-3149	PAR-CLIP	23446348
MIRT1250276	hsa-miR-3942-3p	CLIP-seq
MIRT1250277	hsa-miR-412	CLIP-seq
MIRT1250278	hsa-miR-203	CLIP-seq
MIRT1250279	hsa-miR-4325	CLIP-seq
MIRT1552447	hsa-miR-224	CLIP-seq
MIRT1552448	hsa-miR-3143	CLIP-seq
MIRT1552449	hsa-miR-340	CLIP-seq
MIRT1552450	hsa-miR-382	CLIP-seq
MIRT1552451	hsa-miR-4275	CLIP-seq
MIRT1552452	hsa-miR-4477a	CLIP-seq
MIRT1552453	hsa-miR-4528	CLIP-seq
MIRT1552454	hsa-miR-543	CLIP-seq
MIRT2300760	hsa-miR-103b	CLIP-seq
MIRT2300761	hsa-miR-1271	CLIP-seq
MIRT2300762	hsa-miR-1324	CLIP-seq
MIRT2300763	hsa-miR-182	CLIP-seq
MIRT2300764	hsa-miR-21	CLIP-seq
MIRT2300765	hsa-miR-214	CLIP-seq
MIRT2300766	hsa-miR-3120-5p	CLIP-seq
MIRT2300767	hsa-miR-3619-5p	CLIP-seq
MIRT2300768	hsa-miR-383	CLIP-seq
MIRT2300769	hsa-miR-4291	CLIP-seq
MIRT2300770	hsa-miR-4470	CLIP-seq
MIRT2300771	hsa-miR-4503	CLIP-seq
MIRT2300772	hsa-miR-4668-3p	CLIP-seq
MIRT2300773	hsa-miR-4699-3p	CLIP-seq
MIRT2300774	hsa-miR-4753-3p	CLIP-seq
MIRT2300775	hsa-miR-4772-5p	CLIP-seq
MIRT2300776	hsa-miR-4803	CLIP-seq
MIRT2300777	hsa-miR-511	CLIP-seq
MIRT2300778	hsa-miR-548p	CLIP-seq
MIRT2300779	hsa-miR-590-5p	CLIP-seq
MIRT2300780	hsa-miR-761	CLIP-seq
MIRT2300781	hsa-miR-9	CLIP-seq
MIRT2300782	hsa-miR-922	CLIP-seq
MIRT2300783	hsa-miR-96	CLIP-seq
MIRT2597631	hsa-miR-1323	CLIP-seq
MIRT2597632	hsa-miR-371-5p	CLIP-seq
MIRT2597633	hsa-miR-510	CLIP-seq
MIRT2597634	hsa-miR-548o	CLIP-seq
MIRT2597635	hsa-miR-873	CLIP-seq
MIRT2597631	hsa-miR-1323	CLIP-seq
MIRT2597633	hsa-miR-510	CLIP-seq
MIRT2597634	hsa-miR-548o	CLIP-seq
MIRT2597635	hsa-miR-873	CLIP-seq

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IEA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	12768206, 23685356, 24270157
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000783	Component	Nuclear telomere cap complex	IBA
GO:0000783	Component	Nuclear telomere cap complex	IDA	16880378
GO:0000783	Component	Nuclear telomere cap complex	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12768206, 15181449, 15383534, 15657433, 16189514, 16880378, 17237768, 17632522, 19287395, 19651898, 21044950, 22763445, 25172512, 25416956, 25620558, 26496610, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	12768206, 16043710
GO:0007004	Process	Telomere maintenance via telomerase	IMP	27013236, 30586141, 35420632, 37140166
GO:0010521	Function	Telomerase inhibitor activity	IBA
GO:0010521	Function	Telomerase inhibitor activity	IDA	15632080
GO:0016233	Process	Telomere capping	IBA
GO:0016233	Process	Telomere capping	IDA	21852327
GO:0016233	Process	Telomere capping	IGI	17632522
GO:0016233	Process	Telomere capping	IMP	15657433, 27013236, 30586141, 35420632, 37140166
GO:0016233	Process	Telomere capping	TAS	17237768
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	16030011
GO:0032202	Process	Telomere assembly	IDA	16043710
GO:0032206	Process	Positive regulation of telomere maintenance	NAS	15383534
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IBA
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IGI	26586433
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IDA	15632080
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IGI	15181449
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	TAS	17237768
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IDA	17237768
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	12768206, 12781132
GO:0042162	Function	Telomeric DNA binding	IDA	23685356
GO:0042162	Function	Telomeric DNA binding	IMP	27013236, 30586141, 35420632, 37140166
GO:0043047	Function	Single-stranded telomeric DNA binding	IDA	15632080, 17237767
GO:0043047	Function	Single-stranded telomeric DNA binding	IEA
GO:0043047	Function	Single-stranded telomeric DNA binding	IMP	12768206
GO:0060383	Process	Positive regulation of DNA strand elongation	IDA	16043710
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	19734539
GO:0061849	Function	Telomeric G-quadruplex DNA binding	IDA	19734539
GO:0070187	Component	Shelterin complex	IDA	15383534, 23685356
GO:0070187	Component	Shelterin complex	IMP	21852327
GO:0070187	Component	Shelterin complex	IPI	15383534
GO:0070187	Component	Shelterin complex	TAS	17237768
GO:0070200	Process	Establishment of protein localization to telomere	IMP	25589350
GO:0098505	Function	G-rich strand telomeric DNA binding	IBA
GO:0098505	Function	G-rich strand telomeric DNA binding	IDA	17237768, 21852327, 22763445
GO:1905773	Function	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	19734539
GO:1905840	Process	Positive regulation of telomeric D-loop disassembly	IDA	16030011
GO:1990955	Function	G-rich single-stranded DNA binding	IDA	19734539
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IDA	29227966

MIM	HGNC	e!Ensembl
606478	17284	ENSG00000128513

Protein

UniProt ID

Q9NUX5

Protein name

Protection of telomeres protein 1 (hPot1) (POT1-like telomere end-binding protein)

Protein function

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere len

PDB

1XJV , 3KJO , 3KJP , 5H65 , 5UN7 , 7QXB , 7QXS , 7S1O , 7S1T , 7S1U , 8SH0 , 8SH1 , 8SOJ , 8SOK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02765	POT1	11 → 141	Telomeric single stranded DNA binding POT1/CDC13	Domain
PF16686	POT1PC	152 → 298	ssDNA-binding domain of telomere protection protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11349150, ECO:0000269|PubMed:12391173}.

Sequence

MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCL
LFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSS
KYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFL
LKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTAN
QHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQY
RIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYD
SKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
EDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQY
VFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAY
PWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI

Sequence length

634

Interactions

View interactions

	Reactome
			Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends Telomere Extension By Telomerase DNA Damage/Telomere Stress Induced Senescence

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
TUMOR PREDISPOSITION SYNDROME	Tumor predisposition syndrome 3	rs1554429205, rs1584773024, rs587777476, rs1225878757, rs750470470, rs1584510207, rs1554416461, rs1584777699, rs587777478, rs1397398300, rs1794873983, rs797045169, rs1562981766, rs1410842025, rs1064794328 View all (17 more)	N/A
neoplasm	Neoplasm	rs587777476	N/A

Show/Hide Unknown Diseases (18)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Ankylosing Spondylitis	Ankylosing spondylitis	N/A	N/A	GWAS
Breast Carcinoma	breast carcinoma	N/A	N/A	ClinVar
Carcinoma	thyroid gland carcinoma	N/A	N/A	GenCC
Cerebroretinal Microangiopathy With Calcifications And Cysts	cerebroretinal microangiopathy with calcifications and cysts 3	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Dyskeratosis Congenita	dyskeratosis congenita	N/A	N/A	ClinVar
Glioma	glioma susceptibility 9	N/A	N/A	GenCC
Hoyeraal-Hreidarsson Syndrome	hoyeraal-hreidarsson syndrome	N/A	N/A	ClinVar
Lewy Body Disease	Lewy body disease	N/A	N/A	GWAS
Lung adenocarcinoma	Lung adenocarcinoma	N/A	N/A	GWAS
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Melanoma	Melanoma, cutaneous malignant, susceptibility to, 1, familial melanoma	N/A	N/A	ClinVar
Multiple myeloma	Multiple myeloma	N/A	N/A	GWAS
Pulmonary Fibrosis	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	N/A	N/A	GenCC
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33941849
Alternating hemiplegia of childhood	Associate	23708666
Anemia Aplastic	Associate	24892036
Ataxia Telangiectasia	Associate	21399625
Ataxia Telangiectasia	Inhibit	22373525
Breast Neoplasms	Associate	20056641, 22527105, 22970196, 23342266, 24807106
Carcinogenesis	Associate	23619786, 26365187, 28425274, 28643740, 28853721, 29546066, 31510873
Carcinoma Hepatocellular	Associate	24020493
Carcinoma Non Small Cell Lung	Associate	37718447
Carcinoma Squamous Cell	Associate	39694330
Cell Transformation Neoplastic	Associate	26365187
Cerebroretinal Microangiopathy with Calcifications and Cysts	Associate	39616267
Chromosome Aberrations	Associate	28404540
Colorectal Neoplasms	Associate	21108695, 27329137, 28853721, 31937561, 32586834, 33941849, 36834938
Colorectal Neoplasms	Stimulate	29870526
Cyclic neutropenia	Associate	37140166
Dementia	Associate	35299244
Endometrial Neoplasms	Associate	23317234
Ependymoma	Associate	39864275
Gallstones	Stimulate	28643740
Gastritis	Associate	37994393
Glioma	Associate	25482530, 28393830, 28853721, 31937561, 35456397, 36539277, 37466057
Heart Diseases	Associate	28853721
Hemangiosarcoma	Associate	26403419, 28853721, 31510873, 31937561, 36539277
Hematologic Neoplasms	Associate	33420369, 34570179
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26403419
Hodgkin Disease	Associate	29693246, 35456397
Idiopathic Noncirrhotic Portal Hypertension	Associate	24020493
Idiopathic Pulmonary Fibrosis	Associate	35420632, 36216496
Infratentorial Neoplasms	Associate	39864275
Kidney Calculi	Inhibit	34745087
Leukemia	Associate	33122293
Leukemia Lymphocytic Chronic B Cell	Associate	18077792, 23619786, 25480502, 27060156, 27226433, 27528712, 28853721, 29720177, 31685617, 33054084, 35456397, 37955424
Leukemia Myeloid Acute	Associate	26298771, 34769003
Leukemia Prolymphocytic T Cell	Associate	28393830, 30924136, 31937561
Leukemia T Cell	Associate	36539277
Li Fraumeni Like Syndrome	Associate	26403419, 28853721
Li Fraumeni Syndrome	Associate	32191290
Liver Cirrhosis	Associate	24020493
Lung Neoplasms	Associate	19285750, 32514122, 36216496, 37167549
Lymphoma B Cell	Associate	37140166
Lymphoma B Cell Marginal Zone	Associate	35456397
Lymphoma Mantle Cell	Associate	24682267
Lymphoma T Cell Cutaneous	Associate	30586141
Melanoma	Associate	24686846, 24686849, 25505254, 26106605, 26365187, 26433962, 27181379, 27776349, 28283772, 28393830, 28853721, 29523635, 30451293, 30586141, 31937561 View all (6 more)
Melanoma Cutaneous Malignant	Associate	24686846, 33322357
Mesothelioma	Associate	28283772
Mesothelioma Malignant	Associate	34648949
Myelodysplastic Syndromes	Inhibit	28404540
Neoplasms	Associate	15973431, 18720522, 22855342, 23317234, 23619786, 26365187, 28393830, 28425274, 28853721, 29720177, 30338611, 30586141, 31510873, 31937561, 32040538 View all (11 more)
Neoplasms	Inhibit	21108695
Neoplasms	Stimulate	28643740
Neoplastic Syndromes Hereditary	Associate	37466057
Nevus	Associate	30586141, 39864275
Oligodendroglioma	Associate	25482530
Osteosarcoma	Associate	32191290
Ovarian Neoplasms	Associate	29546066
Pancreatic Neoplasms	Associate	28283772
Parathyroid Neoplasms	Associate	22855342, 36611251
Polycythemia Vera	Associate	37466057
Post Acute COVID 19 Syndrome	Associate	37140166
Renal Tubular Acidosis Distal With Normal Red Cell Morphology	Associate	32283231
Sarcoma	Associate	28853721, 37466057
Sezary Syndrome	Associate	27121473
Stomach Neoplasms	Associate	35936358
Telomeric 22q13 Monosomy Syndrome	Associate	15973431, 32283231
Thyroid Neoplasms	Associate	32040538, 32172474
Uterine Cervical Diseases	Associate	23317234
Uterine Cervical Neoplasms	Associate	28425274
Werner Syndrome	Associate	18583366, 20157518

POT1 (protection of telomeres 1)