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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25913
Gene name	Protection of telomeres 1
Gene symbol	POT1
Synonyms (NCBI Gene)	CMM10CRMCC3GLM9HPOT1PFBMFT8TPDS3
Chromosome	7
Chromosome location	7q31.33
Summary	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

196

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 assayWestern blottingImmunofluorescenceqRT-PCRIn 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

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

2950

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs866612394	RCV005897092
Cerebroretinal microangiopathy with calcifications and cysts 3	Likely pathogenic; Pathogenic	rs1554434788, rs756198077	RCV005034114 RCV005231068
Dyskeratosis congenita	Likely pathogenic	rs2485352948	RCV003991552
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2116414744, rs2116443784, rs2116504894, rs2116542410, rs2116526253, rs1794703569, rs2116500720, rs1358966427, rs1418539002, rs2116415082, rs2116542675, rs2116629474, rs2116525878, rs2116541623, rs2485481246 View all (51 more)	RCV002404862 RCV004945073 RCV004945083 RCV004651621 RCV001755246 RCV004040993 RCV005264167 RCV002386815 RCV002389015 RCV002397857 RCV003382750 RCV004945905 RCV002359284 RCV002258402 RCV002322843 RCV002326217 RCV002338140 RCV002378101 RCV002412212 RCV002376353 RCV002374273 RCV002447637 RCV002375973 RCV002383103 RCV002405568 RCV002405753 RCV002383637 RCV002383638 RCV002404044 RCV002413027 RCV002426432 RCV002446212 RCV003348874 RCV004654084 RCV003177030 RCV003179278 RCV003179296 RCV003310123 RCV003310128 RCV003338961 RCV003338965 RCV004364924 RCV006425090 RCV005264458 RCV005468044 RCV004374120 RCV004521829 RCV004521840 RCV004521844 RCV001011800 RCV001010069 RCV003302882 RCV002431704 RCV002448787 RCV001017208 RCV004026009 RCV002325396 RCV004026749 RCV003166028 RCV004944159 RCV003166244 RCV002424851 RCV001010875 RCV001024236 RCV001013207 RCV005463253 RCV002411626 RCV004034043 RCV002379874 RCV002451679
High-grade astrocytoma with piloid features	Likely pathogenic; Pathogenic	rs2485437077	RCV003315289
Long telomere syndrome	Pathogenic; Likely pathogenic	rs1064794328, rs866612394, rs750470470, rs1562981913	RCV003329289 RCV003329304 RCV004563559 RCV003329328
Neoplasm	Pathogenic	rs587777476	RCV004668786
Polycystic kidney disease 4	Pathogenic	rs1487490244	RCV005863690
POT1-related disorder	Likely pathogenic; Pathogenic	rs756198077	RCV003419989
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	Pathogenic; Likely pathogenic	rs2485441799, rs1554434788	RCV003227580 RCV005034114
Tumor predisposition syndrome 3	Pathogenic; Likely pathogenic	rs1794873824, rs1413163992, rs951589289, rs1795856406, rs2116414744, rs2116443784, rs2116501128, rs2116504894, rs2116505095, rs2116542410, rs2116643174, rs1794703569, rs2116500720, rs2116505401, rs2116505279 View all (105 more)	RCV001338215 RCV001346052 RCV001349796 RCV001348545 RCV001363810 RCV001363858 RCV001373036 RCV001367001 RCV001365403 RCV001360488 RCV001361225 RCV001869745 RCV001999685 RCV001990556 RCV001949139 RCV001904917 RCV002037678 RCV001936395 RCV002019314 RCV001969583 RCV001999284 RCV001963040 RCV001901143 RCV001993289 RCV002002422 RCV000128424 RCV000128426 RCV001993372 RCV002007461 RCV002007512 RCV001939599 RCV002031665 RCV002014245 RCV001956099 RCV002023058 RCV002046716 RCV001951548 RCV005412389 RCV005412390 RCV005412391 RCV003746630 RCV003746629 RCV005097594 RCV005098225 RCV002609539 RCV002801462 RCV003329256 RCV002846473 RCV002851356 RCV002851473 RCV002881483 RCV002877458 RCV002971127 RCV002933979 RCV002985369 RCV003020669 RCV003041857 RCV003035050 RCV003746663 RCV005061053 RCV003746673 RCV003325268 RCV003458259 RCV003585437 RCV003585449 RCV003585628 RCV003584193 RCV003584223 RCV003584197 RCV003584205 RCV003584236 RCV003584287 RCV003584363 RCV003584365 RCV003746813 RCV003746987 RCV003747091 RCV003747346 RCV003747237 RCV003747385 RCV003747376 RCV003747402 RCV003746233 RCV003746133 RCV003746360 RCV003746433 RCV003747443 RCV003822512 RCV003831751 RCV003844608 RCV003843512 RCV000692016 RCV000543378 RCV000556200 RCV000541909 RCV000529317 RCV000528860 RCV000652217 RCV000652206 RCV000652210 RCV001220394 RCV000696191 RCV000707305 RCV000698781 RCV000688884 RCV001869049 RCV000797383 RCV000823587 RCV000805147 RCV000801661 RCV001065573 RCV001038607 RCV001050382 RCV001047616 RCV001070966 RCV001053166 RCV001070081 RCV001045255 RCV001368415 RCV001219027 RCV001217707 RCV001208748 RCV001211438 RCV001228572 RCV001300565 RCV001303012
Uterine corpus endometrial carcinoma	Likely pathogenic	rs2116629474	RCV005925714

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Breast carcinoma	Benign; Likely benign	rs36069303	RCV001262967
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs1584765789, rs35062732	RCV005869659 RCV005897095
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity	rs143635917	RCV003315245
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs751375033, rs750242979	RCV005928274 RCV005899968
Familial melanoma	Likely benign	rs1450319624	RCV005367403
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs1370868219	RCV003483677
Hepatocellular carcinoma	Benign	rs3213667	RCV005905363
Hereditary cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs764821384, rs143635917	RCV005232260 RCV005600983
Hoyeraal-Hreidarsson syndrome	Conflicting classifications of pathogenicity	rs758341603	RCV003991537
Inherited aplastic anemia	Uncertain significance	rs773811344	RCV003991538
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs538385307	RCV005897093
Melanoma, cutaneous malignant, susceptibility to, 1	Conflicting classifications of pathogenicity	rs947005337, rs1370868219	RCV001535605 RCV003483677
Melanoma, cutaneous malignant, susceptibility to, 9	Likely benign	rs1794876557	RCV005860338
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs1447234357, rs35062732	RCV005930427 RCV005897096
Pancreatic adenocarcinoma	Uncertain significance	rs2485462569	RCV005934629
Sarcoma	Conflicting classifications of pathogenicity	rs747851551	RCV005898529
See cases	Conflicting classifications of pathogenicity	rs1554426966	RCV003985380
Thymoma	Benign	rs35062732	RCV005897098
Uterine carcinosarcoma	Benign	rs35062732, rs3213667	RCV005897097 RCV005905364

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)