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

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
Abnormal pulmonary interstitial morphology	Likely pathogenic	rs1751259223, rs1422814635	RCV001172400 RCV001172444	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs797046041, rs1194223999	RCV000193118 RCV001172450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic anemia	Likely pathogenic; Pathogenic	rs199422298	RCV000032376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive dyskeratosis congenita 4	Likely pathogenic; Pathogenic	rs1060503011, rs199422297	RCV001753903 RCV000022786	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita	Likely pathogenic; Pathogenic	rs1749780301, rs2126688998, rs1322987070, rs2478165471, rs886039438, rs1191885727, rs2126691326, rs199422294, rs1060503011, rs1060502990, rs745590324, rs199422297, rs199422298, rs1554038257, rs1561213572, rs915854031, rs989271195, rs1422814635, rs1194223999	RCV004558797 RCV005749860 RCV006302443 RCV004559591 RCV004558612 RCV005281484 RCV005281534 RCV004558270 RCV004559086 RCV005749555 RCV000500038 RCV004558278 RCV004558279 RCV005502864 RCV005755728 RCV000786862 RCV006287265 RCV004559909 RCV004559910	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, autosomal dominant 1	Pathogenic; Likely pathogenic	rs121918665, rs1554041299, rs199422297	RCV000032389 RCV000032369 RCV000032375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita, autosomal dominant 2	Likely pathogenic; Pathogenic	rs1749780301, rs866575708, rs2126584187, rs1270172263, rs2126684234, rs2126684848, rs2126691416, rs2126562296, rs867642414, rs1191885727, rs2126693109, rs2126687935, rs1554043093, rs1322987070, rs770144114, rs2126614292, rs2126685887, rs2126617841, rs2126644399, rs2126649912, rs2126686445, rs2126595178, rs1749799292, rs939986376, rs2478106403, rs1751202314, rs2478436219, rs2478426642, rs763191618, rs1749089374, rs2478129386, rs2478210028, rs2478410604, rs1749840545, rs2478083791, rs2478420652, rs2478409294, rs2478199968, rs878855300, rs2478083772, rs886039438, rs121918665, rs121918666, rs199422309, rs2478413544, rs2478417168, rs1579551402, rs2478412591, rs2478407432, rs2478414096, rs2478285433, rs2478152673, rs1554041095, rs2478420833, rs2478409005, rs1751262771, rs2478426798, rs2478128940, rs1160960250, rs1750106866, rs2478434872, rs759017540, rs2478433975, rs2478209197, rs2478416695, rs1748456663, rs1299344520, rs1156940293, rs2478415125, rs2478152935, rs2478436799, rs2478409320, rs2126691326, rs2478277661, rs199422294, rs1060503011, rs1060502990, rs770066110, rs201159197, rs387907249, rs199422297, rs199422298, rs1554038257, rs1554042899, rs1554043139, rs938938578, rs1579575848, rs1579580058, rs1561213355, rs989271195, rs1748461171, rs1748786633, rs1750086002, rs1750090102, rs1751122711, rs1751155195, rs1751227147, rs1422814635, rs1194223999, rs1748613571, rs1747568641, rs1751289309, rs1561213553, rs1751159700	RCV002675447 RCV002550227 RCV002550253 RCV002551568 RCV002551552 RCV002550260 RCV002551534 RCV003772338 RCV002552829 RCV002545863 RCV002560407 RCV002557880 RCV002564399 RCV002555249 RCV002579662 RCV002569145 RCV002552290 RCV002552792 RCV002562738 RCV002562752 RCV002562126 RCV002236397 RCV003101364 RCV003092616 RCV002622217 RCV002814921 RCV002806696 RCV002823989 RCV002829042 RCV002834223 RCV002871229 RCV002918325 RCV002914556 RCV002929149 RCV002953619 RCV002999504 RCV003024302 RCV003047873 RCV002518371 RCV003227578 RCV002518755 RCV000013572 RCV003460466 RCV002513017 RCV003778225 RCV003785418 RCV003786330 RCV003782297 RCV003780416 RCV003786986 RCV003792172 RCV003806181 RCV003790939 RCV003805396 RCV003807728 RCV003803550 RCV003798846 RCV003799687 RCV003803039 RCV003803273 RCV003801431 RCV003792572 RCV003800257 RCV003808505 RCV003809005 RCV003809225 RCV003804848 RCV003809652 RCV003810011 RCV003815434 RCV003807499 RCV003812700 RCV003810562 RCV003805207 RCV004560349 RCV004573708 RCV004573711 RCV002513175 RCV002523341 RCV002525584 RCV000677346 RCV002518411 RCV002513272 RCV003103717 RCV002514132 RCV002533370 RCV002533369 RCV002544806 RCV004569706 RCV002535497 RCV002535957 RCV002538152 RCV002538017 RCV002554599 RCV002553093 RCV003103904 RCV002553300 RCV001045523 RCV002553772 RCV003103908 RCV002552073 RCV002559651 RCV002558734 RCV003150823 RCV002561656 RCV002563064 RCV002563175 RCV001267801 RCV001250577	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1554040964, rs1554043088	RCV000499860 RCV000504167	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hoyeraal-Hreidarsson syndrome	Likely pathogenic	rs1060503011	RCV001753903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic Pulmonary Fibrosis	Likely pathogenic; Pathogenic	rs1749780301, rs866575708, rs2126584187, rs1270172263, rs2126684234, rs2126684848, rs2126691416, rs2126562296, rs867642414, rs1191885727, rs2126693109, rs2126687935, rs1554043093, rs1322987070, rs770144114, rs2126614292, rs2126685887, rs2126617841, rs2126644399, rs2126649912, rs2126686445, rs1749799292, rs939986376, rs2478106403, rs1751202314, rs2478436219, rs2478426642, rs763191618, rs1749089374, rs2478129386, rs2478210028, rs2478410604, rs1749840545, rs2478083791, rs2478420652, rs2478409294, rs2478199968, rs878855300, rs886039438, rs121918666, rs199422309, rs2478413544, rs2478417168, rs1579551402, rs2478412591, rs2478407432, rs2478414096, rs2478285433, rs2478152673, rs1554041095, rs2478420833, rs2478409005, rs1751262771, rs2478426798, rs2478128940, rs1160960250, rs1750106866, rs2478434872, rs759017540, rs2478433975, rs2478209197, rs2478416695, rs1748456663, rs1299344520, rs1156940293, rs2478415125, rs2478152935, rs2478436799, rs199422294, rs1060503011, rs1060502990, rs770066110, rs201159197, rs387907249, rs199422297, rs199422298, rs1554038257, rs1554042899, rs1554043139, rs938938578, rs1579575848, rs1579580058, rs1561213355, rs989271195, rs1748461171, rs1748786633, rs1750086002, rs1750090102, rs1751155195, rs1751227147, rs1422814635, rs1194223999, rs1748613571, rs1747568641, rs1751289309	RCV002675447 RCV002550227 RCV002550253 RCV002551568 RCV002551552 RCV002550260 RCV002551534 RCV003772338 RCV002552829 RCV002545863 RCV002560407 RCV002557880 RCV002564399 RCV002555249 RCV002579662 RCV002569145 RCV002552290 RCV002552792 RCV002562738 RCV002562752 RCV002562126 RCV003101364 RCV003092616 RCV002622217 RCV002814921 RCV002806696 RCV002823989 RCV002829042 RCV002834223 RCV002871229 RCV002918325 RCV002914556 RCV002929149 RCV002953619 RCV002999504 RCV003024302 RCV003047873 RCV002518371 RCV002518755 RCV002513016 RCV002513017 RCV003778225 RCV003785418 RCV003786330 RCV003782297 RCV003780416 RCV003786986 RCV003792172 RCV003806181 RCV003790939 RCV003805396 RCV003807728 RCV003803550 RCV003798846 RCV003799687 RCV003803039 RCV003803273 RCV003801431 RCV003792572 RCV003800257 RCV003808505 RCV003809005 RCV003809225 RCV003804848 RCV003809652 RCV003810011 RCV003815434 RCV003807499 RCV003812700 RCV003810562 RCV003805207 RCV002513175 RCV002523341 RCV002525584 RCV002525003 RCV002518411 RCV002513272 RCV003103717 RCV002514132 RCV002533370 RCV002533369 RCV002544806 RCV002534853 RCV002535497 RCV002535957 RCV002538152 RCV002538017 RCV002554599 RCV002553093 RCV003103904 RCV002553300 RCV002553772 RCV003103908 RCV002552073 RCV002559651 RCV002558734 RCV003770256 RCV002561656 RCV002563064 RCV002563175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial lung disease 2	Likely pathogenic; Pathogenic	rs121918666, rs199422300, rs199422309, rs199422294, rs111576740, rs387907247, rs199422308, rs1751122711	RCV000032385 RCV000032381 RCV000032380 RCV000032370 RCV000032386 RCV000032368 RCV000032396 RCV001045523	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung sarcomatoid carcinoma	Pathogenic	rs1561215364	RCV003322642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocytic anemia	Likely pathogenic	rs1422814635	RCV001172444	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Pathogenic	rs1561215364	RCV006254356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metastatic melanoma	Pathogenic	rs1561215364	RCV006254355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1561215364	RCV004673860	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian sex cord-stromal tumor	Pathogenic	rs1561215364	RCV006254357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pleomorphic xanthoastrocytoma	Pathogenic	rs1561215364	RCV006254353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature graying of hair	Likely pathogenic	rs1422814635	RCV001172444	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis	Likely pathogenic; Pathogenic	rs111576740, rs2478306957, rs2478180846, rs121918666, rs199422300, rs199422294, rs1060503011, rs1060502990, rs201159197, rs199422297, rs1554038539, rs1554042899, rs938938578, rs1422814635, rs1194223999	RCV002509764 RCV002509765 RCV002509800 RCV002509153 RCV002509154 RCV002509167 RCV002509394 RCV002509393 RCV002509334 RCV002509175 RCV002509477 RCV002509490 RCV002509553 RCV002509621 RCV002509622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Likely pathogenic; Pathogenic	rs866575708, rs1749799292, rs1749003568, rs111576740, rs2478306957, rs2478180846, rs886039438, rs121918666, rs199422300, rs199422309, rs2478154164, rs2478275619, rs199422294, rs1554043041, rs387907247, rs201159197, rs387907249, rs387907250, rs199422298, rs1554038539, rs1579598699, rs1748613571	RCV001376142 RCV002331859 RCV002331860 RCV002331861 RCV002332944 RCV005863674 RCV005860055 RCV000013573 RCV000013574 RCV000013575 RCV003990505 RCV004560350 RCV000677344 RCV000500818 RCV000030625 RCV000030626 RCV002327153 RCV000030629 RCV000030630 RCV005859475 RCV002331097 RCV001007599 RCV003150824	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short telomere length	Likely pathogenic	rs1751259223, rs1422814635	RCV001172400 RCV001172444	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spindle cell sarcoma	Pathogenic	rs1561215364	RCV006254354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telomere syndrome	Likely pathogenic; Pathogenic	rs770144114, rs2478430547, rs2478430165, rs199422294, rs1060503011	RCV003325413 RCV003325418 RCV003325420 RCV003325404 RCV003325407	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TERT-related disorder	Pathogenic; Likely pathogenic	rs2478413544, rs199422297, rs1194223999	RCV004527915 RCV004799751 RCV004734036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adenocarcinoma of the large intestine	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, APLASTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, MACROCYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA, IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical teratoid rhabdoid tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHUS CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcifying nested epithelial stromal tumor of the liver	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic diarrhea	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic obstructive pulmonary disease	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic osteomyelitis	Benign; association; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL SARCOMA OF KIDNEY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined pulmonary fibrosis-emphysema syndrome	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary artery disease, susceptibility to	association; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRI-DU-CHAT SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased circulating immunoglobulin concentration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic small round cell tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27M-mutant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita, autosomal recessive 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita, Recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MELANOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatosplenic T-cell lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL HREIDARSSON SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDH-wildtype glioblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited Immunodeficiency Diseases	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile type testicular granulosa cell tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, acute myeloid, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ 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
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOID LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant glioma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT URINARY SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma SHH activated	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	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; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENINGIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma, 1p 19q codeleted	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sertoli-Leydig cell tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the skin	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe coronavirus disease (COVID-19)	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERT-associated disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC NODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	2136770		★☆☆☆☆ Found in Text Mining only
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	26709572, 28373299		★☆☆☆☆ Found in Text Mining only
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23066086, 2523429		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27509060		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11986943, 19567472		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	15326479		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	27509060		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10675236, 11743637, 12632490, 12861067, 14506674, 15026805, 16211220, 16278815, 18547619, 20061363, 20700438, 22505341, 24420154, 24681604, 24861918, 26149460, 26554909, 26590902, 26980028		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18038311		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20871597, 21743972, 22370939, 23555636, 24390616, 24618080, 24761905, 26042809, 26138067, 26497366, 27191258, 27329725, 29859855		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	17984977		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	31393284		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	29723601		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10429648, 24898513		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12119560		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	23946381		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12970299, 14709792, 15004408, 17525487		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25490274, 27165744, 29581542, 33285287, 34549366, 35279598	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2523429		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	23826993		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	17212643, 29707886		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	31050187		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18167600, 24174164, 27694758		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	28915860, 29525892, 30611004		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	18182620, 23641014		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	26320593		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	24803525, 27886397, 29956721		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	24803525	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	27390278		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	23530248, 26919320, 28271343, 28901965, 31324999		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	19684619, 34690007	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33003434	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26210997	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15482538		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	28731042		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12915632, 17671725, 18201269, 25583906, 25584719, 26733501, 27184112, 29563163, 31408918, 31555347		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	18466174		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	15814878, 17640862, 23901009, 28813500, 40257477	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	25407517	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	18714398, 30325019		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	28245875	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	24803525, 27886397, 29956721		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	15814878, 16132814, 17392301, 17640862, 17663679, 18989882, 20658629, 23636667		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	GENOMICS_ENGLAND_DG	15814878, 18042801		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	CTD_human_DG	15814878		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	UNIPROT_DG	15885610, 16627250, 16990594, 19760749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	LHGDN	16990594		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic anemia, idiopathic	Anemia	ORPHANET_DG	16627250, 16990594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	21106948, 24465664, 26201603, 27825159		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33993221, 38003027, 40594127	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia	Asphyxia	Pubtator	39220363	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	20462933	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29339735		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11087056, 23812731, 26765760, 30611004		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	14570874		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23833040, 31408918	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16794190		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21106948, 24465664, 26201603, 27825159		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24465664, 26201603	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25381796		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28208013, 29696935		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28208013		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19936245		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	10389936		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20886547, 25684018, 29099869		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17344921		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10675236, 12807723, 16278815		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	22901192	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	26784546		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	25261935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	LHGDN	18466174		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	33060611	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	11179508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	28700015		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32114208	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10861477, 12893365, 15569975, 15636669, 16153224, 17047058, 24018021, 24121487, 25048572, 25218484, 25225064, 25657201, 25997473, 26143634, 26743236, 26901314, 26965579, 26980028, 27040924, 28049011, 29084575, 31521529		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12765058, 15900578, 16734859, 17961306, 18425331		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	19151717		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	21349926	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	15814878, 22507770, 30523342	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	20478107		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11409526, 23115063, 23530248, 23598174, 26597176, 26669682		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	12759234, 16479078		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23115063, 23530248, 26014354, 26597176, 26960334, 28049366, 29211306, 30187121, 34576156, 36637642, 40721593	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10913678, 11243466, 11916966, 12237877, 12553039, 12759542, 12946317, 14612409, 14629300, 16179497, 16211220, 16891452, 17145810, 17446718, 17848914, 17913446, 18413362, 18586674, 19193721, 19380022, 19416503, 19566835, 19596972, 20056641, 21526393, 21573500, 22134622, 22527105, 22970196, 23362280, 23593120, 23629941, 24377631, 25296732, 27336831, 27461695, 28121081, 29506639, 29907642, 30194396, 30850363		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23535731		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Neoplasms	Breast neoplasm	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17848914, 22527105	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	34282807	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	21820706	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33836600	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10389936, 10429648, 10861477, 10937679, 11230706, 11420670, 11494028, 12007187, 12007281, 12065683, 12118320, 12684663, 15228439, 15547742, 16211220, 20373052, 24121487, 25081752, 26934125, 26965579, 26980028, 28597078, 28975450		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	15375434, 28587656, 28731042, 30051528, 30723294, 31991166, 32487254, 33761111, 34312479, 34949765, 36826144, 37465126	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	29946183	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19578363, 24260374, 24691053, 26433962, 27029078, 32409749, 34001963	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28258914, 32025012	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	28683471	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	32533903, 33562516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	25301727, 33909215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	39549430	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10569622, 11172490, 12893365, 15569975, 15636669, 16153224, 16734859, 17047058, 22539396, 24018021, 25048572, 25218484, 25225064, 25657201, 25997473, 26143634, 26743236, 26901314, 26965579, 26980028, 27040924, 28049011, 29084575, 31521529		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25634687		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11940351, 12365003, 12942569, 14729646, 15516720, 15547742, 16489012, 17052260, 17630431, 18804892, 18978790, 19285750, 19465454, 19564073, 19955392, 20061363, 20700438, 20819544, 21083788, 21622582, 21725308, 22430809, 22464057, 22723897, 22945651, 23085811, 23359026, 23368278, 23370545, 23433592, 23555636, 23738012, 23908149, 24260099, 24283584, 24377630, 24390616, 24420154, 24535778, 24590268, 24618080, 24681604, 24761905, 24861918, 24973886, 25037574, 25198510, 25254308, 25516442, 25789475, 25924736, 25966219, 26020272, 26138067, 26425038, 26590902, 27393504, 27982019, 28789383, 28843361, 29110844, 29534075, 29695979, 29809284, 29939218, 31009812, 31126249, 31207149		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21949822, 31669704	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23975423, 24742867, 25081752, 25155756, 28460432, 28951115, 29449679, 30610818, 31662560, 33061812, 36788061	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24761905, 25042800	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17359290, 23106581, 24260374, 25823555, 26700669, 26965579, 29562930, 33635430, 33637877, 34650187, 35225554, 37821306, 38086165, 39222919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24386361	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	19151717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	BEFREE	19578363, 25159867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	11748987		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	17060405		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11454703, 12663721, 14719058, 20628624, 21949822, 22623951, 23535731, 24858697, 24972189, 26742579, 27420401, 28291810, 30075819		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	28052688		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	29620581	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37643691	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20937264, 26201603	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26201603		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36382481	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	30183767, 31669704, 32843091	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	37071871	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	20937264, 26201603, 28057933	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	30769869, 39180127	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	39180127	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	12007187, 12802289, 15710386, 18460021, 19010887, 19566820, 21319134, 22228261, 26067630, 27573304, 29045464, 9736034		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	19151717		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	29603728, 29971561		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12802289, 15710386, 17644806, 19010887, 19566820, 21319134, 22228261, 26067630, 27573304, 29045464, 9736034		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21914494, 23066086, 2523429		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	17212643, 29707886		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18167600, 24174164, 27694758		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	28915860, 29525892, 30611004		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16168519, 16237755		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	16237755, 16830373, 18564721		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	16237755, 16830373, 34476330, 34972704, 36788061, 37222808, 37337460	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	18584350		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29463038, 30065261, 31615936, 34108637, 36042521, 36926116	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	30065261		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	30976795	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	19490790		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	32879494	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17344921, 20478107, 23548418, 24706380, 27197291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	17344921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	25196853, 26487696, 26843622, 27061303, 29047144		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31270965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	BEFREE	21520173, 21520174, 25123086, 26999107, 28813500		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis Cryptogenic	Cirrhosis	Pubtator	23000435	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	25481751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney	Sarcoma Of Kidney	ORPHANET_DG	25481751, 26493387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney	Sarcoma Of Kidney	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26294352		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11243466, 12970889, 16444744, 18694522, 19116866, 22351525, 28627695, 29732005		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16444744	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11743637, 11932355, 12412163, 14719074, 15143073, 16174077, 16489651, 19564073, 20027603, 20032382, 21708826, 22351525, 22495810, 22878375, 23946381, 25744732, 25845814, 25847407, 26211574, 26501986, 27627813, 28749462, 28781675, 28915643, 30970512, 31614548		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11932355, 14719074, 17641414, 17673177, 18038311		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20032382		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31186036	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	22948024, 34059744	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	2136770		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28300824, 29507683		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20460502		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	35556126	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	37629169	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15958614, 17699105, 25331263, 26294352, 28215740, 30466948, 30610818, 30738744, 31662560		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	30995915	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	16890917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26201603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GENOMICS_ENGLAND_DG	15814878, 18042801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	16890917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	26201603, 30179663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	36168588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	24904205, 26201603, 36221106	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26201603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Pubtator	33967180	Associate	★☆☆☆☆ Found in Text Mining only
Cri-du-Chat Syndrome	5p partial monosomy syndrome	BEFREE	12629597, 16953888, 17875000, 30985858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cri-du-Chat Syndrome	5p partial monosomy syndrome	LHGDN	12629597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cri-du-Chat Syndrome	5p partial monosomy syndrome	CTD_human_DG	12629597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	24423917, 24569790, 25746036, 26055532, 29570169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyst	Cyst	BEFREE	16961934		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27810892, 31428223		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	26320593		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26320593, 27283992		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29938393, 39903892	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29410390, 29938393	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29957125, 30186877		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	29410390	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	26733501, 26971368, 27184112, 29028645, 30664813, 31131695		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	BEFREE	28281877		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	15808851, 16990594, 17625368, 17875000, 18057229, 18460650		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	15885610, 16132814, 17381549, 17468339, 17507419, 17785587, 18005359, 18042801, 18931339, 18989882, 19036115, 19558498, 21981348, 22664374, 23538340, 25067791, 25237198, 26329388, 26546739, 31119896		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	16247010, 17785587, 18042801		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	17381549, 17468339, 17507419, 17640862, 17785587, 17875000, 18042801, 18931339, 19558498, 22507770, 23335200, 23538340, 23901009, 25067791, 26859482, 31119896, 32744739	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	17785587, 18460650, 28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita Autosomal Dominant	Dyskeratosis congenita	Pubtator	17640862, 17785587, 17875000, 18042801	Associate	★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita Autosomal Recessive	Dyskeratosis congenita	Pubtator	17785587	Associate	★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	BEFREE	16247010, 17392301, 17640862, 17875000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	15814878, 17785587, 18042801, 18460650, 21483807, 22285015, 27069254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2	Dyskeratosis Congenita	UNIPROT_DG	15885610, 16247010, 16332973, 17785587, 18042801, 21602826		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2	Dyskeratosis Congenita	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita, Autosomal Recessive	Dyskeratosis Congenita	BEFREE	17785587		★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	17785587		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	29262649		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	18635888	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	31483290	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	LHGDN	12904596		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	21622582	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11078809, 12032853, 12373298, 26621817		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11820598		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17177836		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20549820, 21543766, 21846689, 25487306, 31669704, 37890416	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17077107, 24972189, 30194396		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17077107, 18288381		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	39735984	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31330336		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29285181		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21949822, 30075819		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	12810646		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	27283992, 28577498		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23912465, 24553109, 24983628, 25007268, 26540342, 26716642, 28060765		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24553109, 24983628, 25007268, 26540342, 26716642, 28060765		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25007268, 26716642, 28060765	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25007268, 26716642, 34972704	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32922179	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	14678994, 15346053		★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	25067791		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	14621192		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	ORPHANET_DG	23348503		★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17392301, 17460043, 23535734, 23583980, 30203795		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26870890, 31408918	Associate	★☆☆☆☆ Found in Text Mining only
Familial melanoma	Melanoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	16278815		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	23000435, 35306637	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	33992698	Associate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	26832993, 29315289		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	11788902, 12065682		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28789428		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	11385322, 12684663, 24562933, 28975450, 29723601		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11385322, 24562933, 24898513, 26733501, 29723601, 29860621, 31131695		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29450669		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	21180888		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	10937679		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	12508351		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	26372813, 28754720	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18547614, 25248398, 26372813, 29486292		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25248398, 26372813	Associate	★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	24215939		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	26526580		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	30900102		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	18204433	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	12592364, 16264179, 16575014, 18535618		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12839970, 17384579, 18535618, 19318640, 20856939, 21203894, 21350045, 21553143, 23149313, 23887589, 23955565, 25081751, 25681309, 26087904, 26143636, 26765760, 26919320, 26960334, 27148686, 27230769, 27503138, 27571882, 28420995, 28663030, 28823044, 28833137, 28851427, 28894890, 28915860, 29362367, 29449679, 29525892, 29693015, 29802247, 30124908, 30535594, 30644143, 30948344, 31099446, 31157866, 31201368, 31258744, 9874800		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12839970, 17384579, 18535618, 19318640, 20856939, 21203894, 21350045, 23149313, 23887589, 25681309, 26087904, 26143636, 26765760, 26960334, 27148686, 27571882, 28420995, 28833137, 28915860, 29344264, 29362367, 29449679, 29693015, 30124908, 30535594, 30644143, 30948344, 31099446, 31157866, 31258744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	LHGDN	15201989, 17410334, 18021753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	17310280, 17699105, 19578367, 20212223, 20462933, 20847058, 21193962, 21347689, 21350045, 21356187, 21801606, 21825990, 22213090, 22539396, 22795327, 23115063, 24231251, 24722048, 24888789, 24908248, 25035100, 25314060, 25698538, 26014050, 26042809, 26351078, 26556853, 26617880, 26646793, 26765760, 27206431, 27655710, 28255664, 28833137, 28868656, 28915860, 28985021, 29198322, 29525892, 29693015, 30124908, 30655743, 31391125, 31444316, 31578594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	18021753, 19578367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Pubtator	24154961, 26443480, 34504233, 37761833	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33319642	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	29382801	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	29449679		★☆☆☆☆ Found in Text Mining only
Hamman-Rich Disease	Diffuse interstitial pulmonary fibrosis	CTD_human_DG	17392301, 17460043, 23535734, 23583980, 30203795		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	17460043		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	27540018		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	10389936		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29603728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21063414, 37462445, 39684472	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20966039, 33660365	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33763035	Associate	★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	27465278		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	30723294		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20022961, 29222734	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26298771, 29222734		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20841475		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	24018021	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	38055384	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27056898, 34071075	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24866078, 27661004	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28056029	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	27276713	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	22152854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Hepatoblastoma	Pubtator	33125945, 34538872, 37993930	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	27939373, 30901310		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	40257477	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21949822, 23535731, 30467240, 33046803	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	17785587		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	25048572, 28121081, 30451293		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21820706, 31050187	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31050187		★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	17785587, 23335200, 23538340, 26810774	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	17785587, 23538340		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	ORPHANET_DG	17785587, 23335200		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	CTD_human_DG	17785587		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	17785587		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hurthle Cell Tumor	Tumor	BEFREE	11385322, 24562933		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	10329353		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	28713902	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	24125430		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24376652		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	27427553, 30903351		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic anemia	Hypoplastic anemia	CTD_human_DG	15814878		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28346975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	24937153	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	26391479		★☆☆☆☆ Found in Text Mining only
Idiopathic aplastic anemia	Aplastic Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	26320593		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	17392301, 17460043, 18835860		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17392301, 17460043, 23535734, 23583980, 30203795		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17460043, 18835860, 19936245, 20841475, 23535734, 24067943, 24434656, 24993703, 27540018, 27630174, 28099038, 28862766, 29804726, 30203795, 31000627, 31653936		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	17460043		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	19936245, 20502709, 20966039, 21349926, 21543794, 22364217, 23000435, 24434656, 27836952, 28066036, 28099038, 29382801, 29742735, 29891356, 30203795, 31034279, 31558622, 31653936, 31910222, 32212792, 33076992, 34370624, 36602845, 37777755	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	14562114, 15026357, 21573488, 27328768, 27509060, 28166799, 29562930		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	25539146	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	7923890		★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	17468339		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	10429648, 21180888, 32198650	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	31322481	Associate	★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	BEFREE	31470906		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	23000435	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28057933		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11313352, 29562930		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	28410231	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	16968891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	26204404		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32024823	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	LHGDN	16490880		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36013573	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	15823813, 15829059, 16354348, 20373052		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	25843513	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	30793229		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15621763, 16673017		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16009689, 18084761, 26487696, 31126249		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18078517, 19147845, 20557672, 21356308, 21820706, 31126249, 34486523	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19147845, 19936245, 21431918, 25682873, 26298771, 27632567, 28813500, 29080039, 33780363, 34048184, 38002257, 39582863	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14562114, 19147845, 19760749, 19936245, 20478107, 23157242, 25108601, 25682873, 27433923, 27509060, 28331964, 28477011, 29080039		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	15814878, 18042801, 27069254		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	23641014		★☆☆☆☆ Found in Text Mining only
Leukocyte Disorders	Leukocyte disorders	Pubtator	31388112	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	26808113		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12183435, 18820283, 21453684		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	19684619, 23530248, 26391479	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30779112, 30793229		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	24726063, 26391479, 29463038, 34971481, 35672466	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	26391479		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	26391479, 30779112		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	26391479		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10204615, 10732755, 12759542, 12858189, 12912949, 12926063, 12974904, 14991929, 15482538, 15849810, 15867214, 16237755, 16257012, 16494581, 16729333, 17052260, 17087938, 17212643, 17307151, 18087181, 18281783, 18683194, 19184104, 19627485, 20213096, 20723213, 21220007, 21527554, 22008847, 22634754, 22886913, 23392802, 23542016, 23685049, 23887712, 24416313, 24732358, 25123086, 25278690, 25339005, 25572283, 25574106, 25613699, 25671640, 25683523, 26189916, 26408804, 26553052, 26575952, 26999107, 27056898, 27276713, 27661004, 27751368, 28258280, 28416747, 28443470, 28460432, 28677271, 28813500, 28833123, 28839469, 28862757, 28947783, 29042796, 29405561, 29707886, 29987895, 30017965, 30300952, 30310256, 30447097, 30756187, 30901310, 31253940, 31783782, 9769378		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12185596, 12918139, 14991929, 15867214, 16937491, 17175353, 18546260, 18564721		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	16651430, 22634754, 25362482, 25822088		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12759542, 21520173, 21520174, 22507770, 25123086, 26999107, 27751368, 28300824, 28813500		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	22507770	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	32024823	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19936245, 23000435, 28677271, 30523342	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19936245	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16168519, 16257012, 17052260, 22008847, 23530248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	27064257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG	17392301		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17460043, 20966039, 22464057, 25612863, 26518879, 29230030, 29517586		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	20966039, 21349926, 37364156	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24434656, 27111861, 33076992, 38003027	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	28495692	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	17460043, 24434656, 27111861		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	11103775, 15026805, 16914582, 27982019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	11323394, 19151717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	11940318, 12231532, 12529350, 12753708, 16641908, 17630431, 18063440, 18978790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33846459, 34337078	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	26808113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25121551, 25584719, 27472887, 28587656, 33776938, 34076961, 36415512, 36817603, 36946265, 37352166, 37859987, 37922948, 40184730	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	CTD_human_DG	24292274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	17417773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	33735913, 34576156	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	26020272	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24598796		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	25684018		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20352467	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	36497103	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24967945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24967945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11605003, 12067435, 15960600, 17699105, 19318640, 21797672, 21801606, 26223576, 26960334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	CTD_human_DG	18021753, 19578367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29603728		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	23137523, 26852175		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	10794298		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	17636483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10913678, 11243466, 11916966, 12759542, 12946317, 14612409, 14629300, 16179497, 16211220, 16891452, 17446718, 17848914, 17913446, 18413362, 18586674, 19193721, 19380022, 19416503, 19566835, 19596972, 20056641, 21526393, 21573500, 22134622, 22527105, 22970196, 23362280, 23593120, 23629941, 24377631, 25296732, 27336831, 27461695, 28121081, 29506639, 29907642, 30194396, 30850363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11078809, 12032853, 12373298, 26621817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	14654902, 24553109, 24983628, 25007268, 26540342, 26716642, 28060765		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29450669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	19903789, 26372813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25634687, 31429604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17212643, 25572283, 26462837, 26513297, 27643433, 29707886		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	27064257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	11323394, 19151717		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11940351, 12365003, 14729646, 16489012, 17052260, 17630431, 18804892, 18978790, 19285750, 19465454, 19564073, 19955392, 20061363, 20700438, 20819544, 21083788, 21622582, 21725308, 22430809, 22464057, 22723897, 22945651, 23085811, 23359026, 23368278, 23370545, 23433592, 23555636, 23738012, 23908149, 24260099, 24283584, 24377630, 24390616, 24420154, 24535778, 24590268, 24618080, 24681604, 24761905, 24861918, 24973886, 25037574, 25198510, 25254308, 25516442, 25789475, 25924736, 25966219, 26020272, 26138067, 26425038, 26590902, 27154632, 27393504, 27982019, 28789383, 28843361, 29110844, 29534075, 29695979, 29809284, 29939218, 31009812, 31126249, 31207149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12183435, 18820283, 21453684, 26700669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11454703, 12663721, 20628624, 22623951, 23535731, 24858697, 24972189, 26742579, 27420401, 28291810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12215291, 15788678, 16609017, 19194757, 22125638, 22800288, 24577890, 25284078, 25940397, 29019414, 30325019		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	25086665, 26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11408918, 17108213, 18836306, 21743467, 22341455, 22505341, 22559196, 22916267, 23535824, 25296732, 25738283, 25997473, 26431041, 26458818, 27437772, 30989489, 31115564		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19151717, 21743467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10937679, 12632490, 12861067, 15526376, 20430247, 20509972, 21180888, 23045275, 23432846, 25662441, 26309358, 26472030, 26540342, 26956036, 27016301, 27825130, 28423629, 30910586, 31207149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15355904, 18201269, 23766237, 23833040, 23887589, 25121551, 25448848, 25951319, 26354077, 26727717, 26733501, 26902827, 26969876, 27472887, 27852061, 29692346, 30024548, 30102829, 30648628, 31024447, 31131695, 31408918, 31549911, 31655978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10569622, 12893365, 15569975, 15636669, 16153224, 16734859, 17047058, 20934419, 22539396, 24018021, 25048572, 25218484, 25225064, 25657201, 25997473, 26143634, 26743236, 26901314, 26965579, 26980028, 27040924, 28049011, 29084575, 31521529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	19151717		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10087321, 11034071, 11078809, 11103775, 11277397, 11319624, 11850779, 12065683, 12118320, 12168091, 12657713, 12915632, 14577922, 14621192, 14646192, 14719058, 15004408, 15243805, 15322345, 15749921, 16034456, 16096014, 16174077, 16474430, 16865285, 17047402, 17052260, 17346111, 17384579, 17427102, 17630431, 17960465, 18037230, 18084761, 18202810, 18535618, 18636213, 18694522, 19013273, 19116866, 19405125, 19444937, 19465454, 19513524, 19564073, 19566820, 19769941, 19796246, 19809268, 19876766, 20027603, 20334955, 20460502, 20478107, 20570912, 20597107, 20628624, 20802237, 20813962, 21193962, 21526393, 21567104, 21610700, 21725614, 21730156, 21761138, 21790308, 21797672, 21875574, 22036880, 22085625, 22221621, 22301953, 22523397, 22539396, 22832159, 22877566, 22878375, 22893025, 22994782, 23026566, 23045275, 23244087, 23462332, 23527617, 23562826, 23681187, 23707794, 23784080, 23993966, 24141777, 24260099, 24338723, 24599132, 24657534, 24709822, 25066524, 25081752, 25155756, 25267585, 25301727, 25368238, 25671640, 25682873, 25689720, 25716168, 25722414, 25847407, 25893605, 25951319, 25977370, 25997473, 26020272, 26042809, 26053551, 26225806, 26298771, 26389665, 26391479, 26433962, 26472030, 26515115, 26526580, 26540342, 26556853, 26575952, 26646272, 26700669, 26716642, 26784546, 26874726, 26902827, 26913901, 26934125, 26953344, 26960542, 26981638, 27111714, 27151235, 27185198, 27245281, 27273963, 27352265, 27403431, 27437772, 27449293, 27472887, 27528624, 27643433, 27650951, 27807101, 27825130, 27977688, 28057768, 28135248, 28251405, 28267263, 28281877, 28284778, 28289249, 28416747, 28418878, 28616852, 28641311, 28754720, 28789386, 28829509, 28837806, 28881610, 29074462, 29202008, 29211306, 29281820, 29362367, 29497099, 29525892, 29534075, 29536006, 29568354, 29643934, 29695979, 29749098, 29907642, 29956721, 30017965, 30082712, 30205042, 30350309, 30358567, 30664813, 30692519, 30775237, 30910586, 31024447, 31122840, 31126191, 31179925, 31284662, 31285550, 31321667, 31408918, 31454181, 31519574, 31772219, 31799699, 31846072		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	25261935		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25035100		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	20543847		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	12802289, 15710386, 19010887, 19566820, 21319134, 22228261, 26067630, 27573304, 29045464, 9736034		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12970889, 18694522, 19116866, 22351525, 28627695, 29732005		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11788906, 11916966, 11936586, 14612409, 15202008, 15545228, 16179497, 16525654, 18413362, 18586674		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12210061, 16211220, 17656250, 23342266		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28700015		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	23137523, 26852175		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	23766237		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16965953, 18167600, 24174164, 27694758		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	23530248, 24174164, 25843513	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	27993549, 29262649, 30211730		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11407973, 15026357, 19578363, 21116649, 21418545, 23348506, 23530248, 24030752, 24374110, 24423917, 24569790, 24588324, 24642353, 24866078, 25035100, 25407517, 25444926, 25457634, 25746036, 25789475, 25997473, 26055532, 26327518, 26433962, 27004972, 27040924, 27449293, 27911794, 28121081, 28123854, 28212542, 28378855, 28489852, 29123258, 29262649, 29449679, 29570169, 29695835, 30046245, 30069451, 30070694, 30203894, 30211730, 31203567, 31519574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GENOMICS_ENGLAND_DG	18460650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	20856939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19151717, 23799844, 24030750, 24260374, 24423917, 24569790, 25217772, 26061100, 28373299, 30211730, 32483240, 33285287, 35225554	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10794298, 11859969, 15965488, 17415213, 26960334, 27465278, 29216385, 29312603, 29808339, 30010853, 30788677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	11859969, 15679862, 16554968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	24261697, 25963524, 26668184, 26960334, 29216385, 30010853, 30796745, 35440040, 36264940, 36511679	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningothelial meningioma	Meningothelial Meningioma	BEFREE	15965488		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27810892, 31428223		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	25301727		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19502386, 27181379		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37566084	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23975423, 32083805	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28006764		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30120967		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	15749921		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	33076992	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37643691	Inhibit	★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	18021753, 19578367		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	30611004		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36812689	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21891916, 34381934	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	12632490		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	31651862		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11237381, 21820706, 31814184, 37737335, 39769169	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12001122, 16460686		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25066524, 31814184		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26061100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20137830		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19760749, 20478107, 23072779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22533337, 27418648, 27433923, 34019641, 34048184	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15068898, 15234574, 18409031, 24970385, 25015264, 26487696		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CTD_human_DG	17157168		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	25196853, 26487696, 27561898, 29047144		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CTD_human_DG	29047144		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31292540		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	37922948	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	26320593		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	LHGDN	17621823		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15967702, 17156515, 21929825, 23085811, 23149313, 24615621, 26545403, 26621837, 27436580, 29873071, 31270100		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21929825, 26621837, 31270100	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	31270100	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29984907, 34001963	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10022128, 10102626, 10702516, 10861477, 11078809, 11087056, 11103775, 11156605, 11207244, 11309297, 11319624, 11409526, 11494028, 11776132, 11850720, 11850779, 12118320, 12209957, 12237877, 12368233, 12412163, 12759542, 12858189, 12893365, 12915632, 12932205, 12943625, 12970299, 14577922, 14612409, 14673140, 14734481, 15241552, 15289347, 15342398, 15346053, 15355904, 15482538, 15569975, 15861179, 15960600, 16179497, 16211220, 16354348, 16361574, 16437597, 16474430, 16475685, 16585183, 16877525, 16914582, 16949075, 17052260, 17085667, 17130181, 17630431, 18037230, 18087181, 18485417, 18535618, 18670453, 18836295, 18836306, 18936525, 19010861, 19010887, 19013273, 19096444, 19944791, 20032382, 20213096, 20233877, 20460502, 20484428, 20531395, 20819544, 21526393, 21573488, 21610700, 21775421, 21989412, 22266933, 22301953, 22351525, 22396493, 22523397, 22534012, 22832159, 22916267, 22945651, 23023397, 23149313, 23349740, 23530248, 23629941, 23764841, 23955565, 24018021, 24099430, 24123354, 24174164, 24184969, 24338723, 24569790, 25035100, 25294805, 25301727, 25331263, 25448848, 25481751, 25490274, 25584719, 25613699, 25657201, 25823555, 25843513, 25870252, 25893297, 25893605, 25951319, 25997473, 26014050, 26143634, 26143636, 26149460, 26327518, 26348634, 26398907, 26408804, 26575952, 26617880, 26669682, 26700669, 26786290, 26852175, 26892443, 26948350, 26981638, 27044500, 27184112, 27245281, 27276713, 27283901, 27340350, 27440268, 27493271, 27503138, 27571882, 27573304, 27694758, 28009606, 28025427, 28052688, 28135248, 28215740, 28255664, 28443470, 28443573, 28455966, 28460432, 28502101, 28535013, 28641311, 28660626, 28789383, 28894890, 28895292, 28973495, 28975450, 29026176, 29099869, 29123258, 29198322, 29244145, 29249395, 29262650, 29266240, 29362367, 29449673, 29449679, 29545335, 29562930, 29563163, 29620581, 29692346, 29695835, 29945271, 30069451, 30466948, 30611004, 30644143, 30779112, 30788677, 30793229, 31305897, 31361345, 31444316, 31451486, 31521529, 31609466, 31799699, 31837325, 9485011, 9874800		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	25261935		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	29262650		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	18511807		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23826993		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28757168		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11696453, 12598334, 15004408, 24123354, 26466568, 26523776, 27440268, 27793328, 28452859, 28546523		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	11696453, 15004408, 23417743, 26786290, 28546523, 31128432, 32291317, 33056981, 33915956, 35634846, 37608330	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	LHGDN	12598334		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	26523776		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29619746, 31170886		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	17060405		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	27873319		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	27617404		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	27993549, 29262649, 30211730		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	11448772		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	23149313		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	11448772		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25278690, 28006764, 28677271		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11776132, 12065683, 12871779, 12943625, 14570602, 16166445, 17130181, 17602077, 18274558, 18328944, 19369581, 20487549, 21083788, 21252717, 23359026, 24067943, 24260099, 24420154, 24679952, 26020272, 26149460, 26554909, 26799744, 27154632, 27329725, 27982019, 29033187, 29749533, 29885057, 31446212, 31837325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	21252717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	15010825, 23023397		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	15010825		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22351525, 29938393, 33413203, 37800791	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	24722048, 25081751, 25694352, 25843513, 27556304, 28255664, 28851427, 28915860, 32690110, 32843091, 33864084, 33899270, 34558656, 35864624, 35866817, 38141254	Associate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	26765760, 28064387, 28851427, 28915860, 29525892, 29693015, 30611004		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15753996, 28765565, 28799566		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28765565, 40389469, 40688111	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	11454703, 12663721, 24858697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	24338723, 29474637		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39735984	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30338789		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18438345		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20628624, 22623951, 23535731, 24972189, 26742579, 27420401, 28291810		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	23535731		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	14646192, 20628624, 22267287, 22623951, 23535731, 24338723, 25081752, 25375122, 29449679, 29620581, 31009812, 31291979, 33432021, 35816189, 36289203, 37889060	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12215291, 15788678, 16609017, 19194757, 22125638, 22800288, 24577890, 25284078, 25940397, 29019414, 30325019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15112354, 15788678, 16810748		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	15161713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	25086665, 26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11531263, 21080909, 22125638, 24577890, 24633336, 24642353, 25940397, 27411289, 27579533, 27797938, 31203567, 31917448, 34972704	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	BEFREE	15885610, 18931339, 22507770, 25067791, 29804726		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	25067791, 34048184	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11421607, 18201269, 18664542, 21900378, 25024077, 25448848, 25951319, 26667986, 26733501, 26943032, 27064992, 27184112, 27185198, 27581851, 27875244, 28176151, 28616852, 28666074, 29266240, 29312581, 29901196, 30102829, 30661164, 30788603, 30826992, 30999281, 31026111, 31230400, 31300059, 31305897, 31321667, 31408918, 31454788, 31538903, 31651569, 31810221		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	30676499		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	LHGDN	16426912		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	30838648, 33203919	Associate	★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	26799699		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	12519411		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31051499	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	23082138	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	1991851		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	12970299, 14709792, 15004408, 17525487		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	LHGDN	15004408		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	15004408, 23785438, 24803525	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	26832993, 27255162, 29315289, 29497099		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	26014354		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	30392088		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28272680	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	29532523, 30051528, 30599247		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pleural effusion disorder	Pleural effusion	BEFREE	22464057		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	25383969		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	25383969		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	26487696		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	29047144	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	26320593		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	22495810		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30685566		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15621763, 18293058		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23066086		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	1826223, 1826936, 21914494		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	30338789		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11408918, 17108213, 18836306, 21743467, 22341455, 22505341, 22559196, 22916267, 23535824, 25296732, 25738283, 25997473, 26431041, 26458818, 27437772, 30989489, 31115564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12843187, 15053304, 16979586, 17991730, 18437586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17712489, 20065320, 21160077, 21743467, 21820706, 23246478, 23535824, 23937305, 24651484, 25296732, 25997473, 26431041, 27437772, 28829509, 31669704, 32800727	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19151717, 21743467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21297939, 22505341, 25997473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	24012806		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31270965, 32212792, 33619289, 38003027	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21622582, 25562321		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17392301, 18635888, 20658629, 25539146, 25612863, 27540018, 27836952, 29382801, 30978332, 31000627, 31653936		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	18635888		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	19936245, 20022961, 20502709, 21543794, 22507770, 22863003, 23901009, 25539146, 25612863, 27836952, 33993221	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1	Pulmonary fibrosis and/or bone marrow failure	GENOMICS_ENGLAND_DG	15814878, 17392301, 18042801, 27069254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1	Pulmonary fibrosis and/or bone marrow failure	UNIPROT_DG	15814878, 17460043, 21436073, 21483807, 22512499		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1	Pulmonary fibrosis and/or bone marrow failure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22351525		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	15068898		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	11896565, 14693268		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15958614, 17699105, 26294352, 28215740, 30466948, 30610818, 30738744, 31662560		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31841990		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	24742867, 25474136, 26934125, 29396293, 30887605, 37640571	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	15268829		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	18281783, 18670453, 19328781, 23229955		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	28682440	Associate	★☆☆☆☆ Found in Text Mining only
Revesz Debuse syndrome	Revesz debuse syndrome	Pubtator	25067791	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12939399		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	12939399		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	31669704, 33530592	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17896808		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	30206236		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	39220363	Associate	★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	30676499		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	11788902		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22243975, 26391479, 30793229		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	24030750, 24726063, 26391479, 29099504, 29463038, 32024823, 34202213, 35705560	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	35347249	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	30976795	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	11313352	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26799699		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28730771		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27874963		★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	29449679		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	29620581	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	23887589, 37083005	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	23349740, 30266659, 31119896		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	21116649, 29211306	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	25301727, 29473934		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15026805, 23359026, 24761905, 31714592		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	10397260, 12209700		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	27562490		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 23	Spastic paraplegia	Pubtator	21349926	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	37884663	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11911285, 15026805, 15228439, 15375434, 16354348, 17448136, 20934419, 24681604, 24861918, 25368238, 26472403, 26700669, 26965579, 28025427, 29603728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	14606063, 14961580, 17198740, 17487429, 18285708, 19015635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18823699, 24386361, 24840723, 25007268, 26669682, 26716642		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17923759, 19015635, 20802237, 23530248, 25612142, 25771075, 26700669, 26857734, 28025427, 28236344, 28814981, 31093971, 31772219, 32576588, 34001963, 36415512, 39432990	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32576588	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	28230921		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30165166, 31747091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17923759, 19082458, 20802237, 21994403, 28535013, 31772219		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29156735		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	26391479		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10937679, 12632490, 12861067, 15526376, 20430247, 20509972, 21180888, 23045275, 23432846, 25662441, 26309358, 26472030, 26540342, 26956036, 27016301, 27825130, 28423629, 30910586, 31207149		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10429648, 12174361, 12632490, 14716817, 15040021, 15526376, 18158559, 21180888, 23432846, 24481448, 26309358, 27825130, 28423629, 32502020, 9914776	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12508351, 12632490, 18037230, 18414191		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	31846633		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26201603	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	18989882		★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	34493366	Stimulate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20964812, 22341440		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	LHGDN	15001567		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	21527554, 26857734, 28813500, 29194355, 30523342, 34019641, 34565437	Associate	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	25682873	Inhibit	★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	33741265, 35368045	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	23640991, 23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	26526580	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular neoplasm	Pubtator	21564132	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	18084761, 29047144		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	25067791	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	23766237, 24617711	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer Hurthle cell	Hurthle cell thyroid cancer	Pubtator	23833040	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26870890, 31408918	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	26733501		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12118320, 14621192, 15355904, 18201269, 23766237, 23833040, 23887589, 25121551, 25383969, 25448848, 25951319, 26354077, 26727717, 26733501, 26902827, 26969876, 27472887, 27852061, 28587656, 29692346, 29901196, 30024548, 30102829, 30648628, 31024447, 31131695, 31408918, 31549911, 31655978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	25383969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	18201269, 23766237, 25584719, 26878173, 28423545, 28489587, 28634282, 30758123, 31235699, 32284020, 32421817, 34972706, 35864728, 38044137	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	11421607		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	11385322, 12684663, 29723601, 31131695		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	25383969		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	BEFREE	11385322		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10389936, 10598207, 12618337, 15355904, 17671725, 18201269, 23833040, 24617711, 25121551, 25448848, 25951319, 26354077, 26727717, 26733501, 26902827, 26969876, 27472887, 27852061, 28502101, 29435002, 29692346, 29723601, 30102829, 30648628, 31024447, 31131695, 31408918, 31549911, 31655978		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16288728, 16786150, 18201269, 18664542		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	25383969		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	10389936, 10598207, 11385322		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	23887589, 27852061, 34076961, 34702207	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	28939077	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29193225		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	39327682	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22037553, 23136140, 24325915, 29222734, 34493366, 36768147, 37575241, 39819723	Associate	★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	32991787	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16174077, 18938767		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	14621192, 28731042		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	24967945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	25474136, 27029078	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	23887589, 32533903, 35135543, 36906071	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28683471	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	BEFREE	30903351		★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	23530248	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	19405089, 20934419, 26239299, 26679899, 27520411, 29047227, 30447301, 31393284, 31630874		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	17359290, 23106581	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	17644806		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	19151717		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15710386, 17359290, 21319134, 26700669, 31249199, 35098380, 35610285, 9736034	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Diseases	Uterine polyp	Pubtator	39735984	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24423917, 25159205		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	24423917, 36459980	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29351466		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	33076992	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	30447301	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	26765760, 28064387, 28851427, 28915860, 29525892, 29693015, 30611004		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	19398855		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	21553236, 35184066, 35617957, 37756569	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	16247010, 17785587, 18042801		★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	17785587, 22058290		★☆☆☆☆ Found in Text Mining only