POT1 (protection of telomeres 1)

Gene

• Entrez ID: 25913
• Gene name: Protection of telomeres 1
• Gene symbol: POT1
• Synonyms (NCBI Gene): CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 606478
• HGNC: 17284
• e!Ensembl: 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

Pathways

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

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs866612394	RCV005897092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebroretinal microangiopathy with calcifications and cysts 3	Likely pathogenic; Pathogenic	rs1554434788, rs756198077	RCV005034114 RCV005231068	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita	Likely pathogenic	rs2485352948	RCV003991552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2116414744, rs2116443784, rs2116504894, rs2116542410, rs2116526253, rs1794703569, rs2116500720, rs1358966427, rs1418539002, rs2116415082, rs2116542675, rs2116629474, rs2116525878, rs2116541623, rs2485481246, rs1462186598, rs2485479761, rs2485462874, rs767757297, rs2485575117, rs1436069277, rs2485441329, rs2485437241, rs1584757207, rs139388603, rs2485352448, rs761173025, rs2116567603, rs2485402330, rs1487490244, rs2485562504, rs765028767, rs2485402405, rs2485575173, rs2485394964, rs2485479643, rs2485401740, rs1795851272, rs1563008413, rs2485401916, rs2485394271, rs2116567355, rs2485480737, rs1416551470, rs2485441296, rs993522134, rs1794702760, rs1064794328, rs866612394, rs1554434788, rs756198077, rs1554429221, rs750470470, rs1397398300, rs1562981766, rs1562997292, rs1584749232, rs1584510207, rs1584777699, rs1584757180, rs1202302799, rs1584777802, rs1794873983, rs1225878757, rs1795852638, rs1795015022	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High-grade astrocytoma with piloid features	Likely pathogenic; Pathogenic	rs2485437077	RCV003315289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long telomere syndrome	Pathogenic; Likely pathogenic	rs1064794328, rs866612394, rs750470470, rs1562981913	RCV003329289 RCV003329304 RCV004563559 RCV003329328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs587777476	RCV004668786	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 4	Pathogenic	rs1487490244	RCV005863690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POT1-related disorder	Likely pathogenic; Pathogenic	rs756198077	RCV003419989	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	Pathogenic; Likely pathogenic	rs2485441799, rs1554434788	RCV003227580 RCV005034114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tumor predisposition syndrome 3	Pathogenic; Likely pathogenic	rs1794873824, rs1413163992, rs951589289, rs1795856406, rs2116414744, rs2116443784, rs2116501128, rs2116504894, rs2116505095, rs2116542410, rs2116643174, rs1794703569, rs2116500720, rs2116505401, rs2116505279, rs2116526564, rs1358966427, rs1307901642, rs1795356111, rs1562981766, rs1418539002, rs2116567355, rs2116415082, rs2116444559, rs1230015941, rs587777476, rs587777478, rs1796390355, rs2116421906, rs2116542675, rs2116461581, rs2116629474, rs2116643224, rs2116444583, rs2116415268, rs2116525878, rs1795353084, rs2116505365, rs2116505374, rs747851551, rs2485575117, rs2485441329, rs139388603, rs1487490244, rs765028767, rs2485394074, rs797045169, rs2485479240, rs2485352489, rs1794702760, rs2485575178, rs2485352293, rs2116443901, rs2485504867, rs2485345289, rs2485402405, rs2116504255, rs2116415261, rs2485394964, rs2485479643, rs2485437077, rs2485481564, rs1360260625, rs2485394271, rs2485505371, rs2485479361, rs2485562891, rs2485374557, rs2485374234, rs2485480756, rs2485374029, rs2485562923, rs2485480737, rs2485575164, rs2485437209, rs2485401803, rs2485402669, rs2485345263, rs2116500730, rs868374643, rs2116526346, rs2485437004, rs2485464100, rs1416551470, rs2485441296, rs2485505108, rs2485395228, rs2485441592, rs1064794328, rs866612394, rs1554420583, rs1554434788, rs756198077, rs1554429221, rs1554429205, rs750470470, rs1554416461, rs1397398300, rs1563008413, rs1562981913, rs976603098, rs1562997292, rs1584749232, rs1584773024, rs1584510207, rs1584777699, rs1794873983, rs1410842025, rs1562981898, rs746091720, rs918544320, rs1795853533, rs1796391959, rs1225878757, rs1794651890, rs1795852638, rs1796511665, rs1795645080, rs1795015022, rs1795652293	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs2116629474	RCV005925714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANAPLASTIC OLIGODENDROGLIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CHROMOSOMAL DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial melanoma	Likely benign	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA SUSCEPTIBILITY 9	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hoyeraal-Hreidarsson syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Inherited aplastic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma, cutaneous malignant, susceptibility to, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma, cutaneous malignant, susceptibility to, 9	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RARE CONSTITUTIONAL APLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID GLAND CARCINOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29693246		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	25482530		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16786598		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	23708666	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	ORPHANET_DG	25482530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Aplastic	Aplastic anemia	Pubtator	24892036	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	26403419		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31196315		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	21399625	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22373525	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31196315		★☆☆☆☆ Found in Text Mining only
Autosomal Chromosome Disorders	Autosomal Chromosome Disorders	CTD_human_DG	23502782		★☆☆☆☆ Found in Text Mining only
B-cell chronic lymphocytic leukemia	Lymphocytic Leukemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26377837		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	ORPHANET_DG	23502782		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17616810, 20056641, 22527105, 22970196, 24807106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20056641, 22527105, 22970196, 23342266, 24807106	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	29546066		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23619786, 26365187, 28425274, 28643740, 28853721, 29546066, 31510873	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24020493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19285750, 19773453		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39694330	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21116649		★☆☆☆☆ Found in Text Mining only
Cerebroretinal Microangiopathy with Calcifications and Cysts	Cerebroretinal microangiopathy with calcifications and cysts	Pubtator	39616267	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	25482530		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	28643740		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	28643740		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23502782, 27226433, 27528712, 29720177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	ORPHANET_DG	23502782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	24292274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASDB_DG	24292274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21108695, 25194444		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21108695, 27329137, 28853721, 31937561, 32586834, 33941849, 36834938	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29870526	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	CTD_human_DG	23502782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37140166	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21833529		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35299244	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23317234		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23317234	Associate	★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	ORPHANET_DG	24686846, 24686849		★☆☆☆☆ Found in Text Mining only
Familial melanoma	Melanoma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gallstones	Gallstones	Pubtator	28643740	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	37994393	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25482530, 26014050, 26634384, 28853721, 31014199		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25482530, 28393830, 28853721, 31937561, 35456397, 36539277, 37466057	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28853721	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	26403419, 28853721, 31510873, 31937561, 36539277	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28853721, 31510873		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	33420369, 34570179	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	27869160		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26403419	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	24686846, 28146043, 30451293, 30586141, 31014199		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29693246		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	29693246, 35456397	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35420632, 36216496	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33122293	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26298771, 34769003	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26298771		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16786598		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni-Like Syndrome	Li-Fraumeni Syndrome	BEFREE	28853721		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18449889		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24020493	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19285750, 32514122, 36216496, 37167549	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	CTD_human_DG	23502782, 24292274		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30586141		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17616810, 20056641, 22527105, 22970196, 24807106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23317234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19285750, 19773453, 27459707		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21116649		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	24686849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14744765, 18425352, 22151982		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28389767		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18425352, 21108695, 23317234, 23502782, 23619786, 28389767, 28393830, 28393832, 30556179		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23342266		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	30586141		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21116649, 24686849, 25505254, 26433962, 28389767, 30586141, 31567591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24686846, 24686849, 25505254, 26106605, 26365187, 26433962, 27181379, 27776349, 28283772, 28393830, 28853721, 29523635, 30451293, 30586141, 31937561, 32283231, 33322357, 33982545, 35456397, 36539277, 37466057	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	24686849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	24686846, 33322357	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	27181379		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	28283772	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34648949	Associate	★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	24239198		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29546066		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24239198		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28404540	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14744765, 17020976, 17616810, 18720522, 22151982, 22855342, 23065374, 24686849, 25194444, 28853721, 29720177, 31534549		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	30586141		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25482530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	ORPHANET_DG	25482530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	25482530	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	15949576		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32191290	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29546066	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28283772	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	24035866		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	22855342, 36611251	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	37466057	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	28598434		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21833529		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28853721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	28853721, 37466057	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Aplastic Anemia	Anemia	BEFREE	24892036		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	27121473		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27121473	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	24686849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	ORPHANET_DG	23502782		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	24292274		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21116649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	14744765, 18425352, 22151982		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35936358	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	15973431, 32283231	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28389767		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28389767		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32040538, 32172474	Associate	★☆☆☆☆ Found in Text Mining only
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	BEFREE	28389767		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28425274	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25482530		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	18583366, 20157518	Associate	★☆☆☆☆ Found in Text Mining only