DNMT1 (DNA methyltransferase 1)

Gene

• Entrez ID: 1786
• Gene name: DNA methyltransferase 1
• Gene symbol: DNMT1
• Synonyms (NCBI Gene): ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Me

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62621089	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141856197	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143904813	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs143925123	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144685297	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs146112081	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	5 prime UTR variant, synonymous variant, coding sequence variant
rs150999369	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199473690	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199473691	GGA>TAT	Pathogenic	Missense variant, coding sequence variant
rs199473692	A>G	Pathogenic	Missense variant, coding sequence variant
rs200024502	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201213597	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201487376	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201774098	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs371779379	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397509391	C>A	Pathogenic	Coding sequence variant, missense variant
rs397509392	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397509393	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1085307800	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1568234664	C>A	Likely-pathogenic	Splice acceptor variant
rs1599341718	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599366421	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1599366542	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT003661	hsa-miR-29b-3p	immunoblot, Luciferase reporter assay, qRT-PCR	19211935
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT004598	hsa-miR-301b-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20841484
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20841484
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	20578129
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	20578129
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21538319
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21538319
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT006443	hsa-miR-342-3p	Luciferase reporter assay, qRT-PCR, Western blot	21565830
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT000020	hsa-miR-148a-3p	Flow, qRT-PCR, Western blot	22167392
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT000020	hsa-miR-148a-3p	Flow, qRT-PCR, Western blot	22167392
MIRT006696	hsa-miR-185-5p	Immunoprecipitaion, Luciferase reporter assay, Microarray, Quantitative proteomic approach, Western blot	21962230
MIRT006890	hsa-miR-140-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22898998
MIRT004456	hsa-miR-152-3p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	23125218
MIRT004456	hsa-miR-152-3p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	23125218
MIRT016347	hsa-miR-193b-3p	Microarray	20304954
MIRT019396	hsa-miR-148b-3p	Microarray	17612493
MIRT020737	hsa-miR-155-5p	Proteomics	18668040
MIRT004456	hsa-miR-152-3p	Reporter assay;Western blot;qRT-PCR	20578129
MIRT050072	hsa-miR-26a-5p	CLASH	23622248
MIRT048504	hsa-miR-100-5p	CLASH	23622248
MIRT046163	hsa-miR-30b-5p	CLASH	23622248
MIRT045615	hsa-miR-149-5p	CLASH	23622248
MIRT041763	hsa-miR-484	CLASH	23622248
MIRT037038	hsa-miR-877-3p	CLASH	23622248
MIRT052671	hsa-miR-1260b	CLASH	23622248
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Western blot	24515776
MIRT046163	hsa-miR-30b-5p	qRT-PCR, Western blot	24913034
MIRT006696	hsa-miR-185-5p	Flow, Immunoprecipitaion, qRT-PCR, Western blot	23846337
MIRT003661	hsa-miR-29b-3p	qRT-PCR, Western blot	23179556
MIRT054264	hsa-miR-200a-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054266	hsa-miR-200b-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054268	hsa-miR-429	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT437410	hsa-miR-29a-3p	ChIP-seq, qRT-PCR, Western blot	23789939
MIRT438810	hsa-miR-17-5p	Luciferase reporter assay	23306545
MIRT438809	hsa-miR-18a-5p	Luciferase reporter assay	23306545
MIRT438808	hsa-miR-19a-3p	Luciferase reporter assay	23306545
MIRT438807	hsa-miR-19b-3p	Luciferase reporter assay	23306545
MIRT438806	hsa-miR-20a-5p	Luciferase reporter assay	23306545
MIRT438805	hsa-miR-92a-3p	Luciferase reporter assay	23306545
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	24714841
MIRT004456	hsa-miR-152-3p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT006696	hsa-miR-185-5p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT438810	hsa-miR-17-5p	Luciferase reporter assay	23306545
MIRT438809	hsa-miR-18a-5p	Luciferase reporter assay	23306545
MIRT438808	hsa-miR-19a-3p	Luciferase reporter assay	23306545
MIRT438807	hsa-miR-19b-3p	Luciferase reporter assay	23306545
MIRT438806	hsa-miR-20a-5p	Luciferase reporter assay	23306545
MIRT438805	hsa-miR-92a-3p	Luciferase reporter assay	23306545
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	24714841
MIRT004456	hsa-miR-152-3p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT006696	hsa-miR-185-5p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT440790	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439165	hsa-let-7c-5p	3'LIFE	25074381
MIRT440790	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439165	hsa-let-7c-5p	3'LIFE	25074381
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	26872375
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	26872375
MIRT006890	hsa-miR-140-5p	Luciferase reporter assay	27021683
MIRT006890	hsa-miR-140-5p	Luciferase reporter assay	27021683
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT006443	hsa-miR-342-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27302063
MIRT437410	hsa-miR-29a-3p	Microarray, qRT-PCR	26251039
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27859417
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27859417
MIRT732849	hsa-miR-17-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33262617
MIRT000020	hsa-miR-148a-3p	qRT-PCR	31615086
MIRT004456	hsa-miR-152-3p	Immunohistochemistry (IHC), Microarray, qRT-PCR	34006907
MIRT000020	hsa-miR-148a-3p	Microarray, qRT-PCR	31564251
MIRT004456	hsa-miR-152-3p	Immunohistochemistry (IHC), qRT-PCR	34006907
MIRT755514	hsa-miR-142-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34321149
MIRT755514	hsa-miR-142-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), in vitro cullelar assays, Flow cytometry	37403081
MIRT755855	hsa-miR-887-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35795731
MIRT019396	hsa-miR-148b-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35836014
MIRT942509	hsa-miR-3161	CLIP-seq
MIRT942510	hsa-miR-377	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT942512	hsa-miR-34c-3p	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT1979072	hsa-miR-485-3p	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT2214205	hsa-miR-1343	CLIP-seq
MIRT2214206	hsa-miR-140-3p	CLIP-seq
MIRT755514	hsa-miR-142-5p	CLIP-seq
MIRT2214207	hsa-miR-148a	CLIP-seq
MIRT2214208	hsa-miR-148b	CLIP-seq
MIRT2214209	hsa-miR-152	CLIP-seq
MIRT2214210	hsa-miR-2110	CLIP-seq
MIRT2214211	hsa-miR-3147	CLIP-seq
MIRT2214212	hsa-miR-3150a-3p	CLIP-seq
MIRT2214213	hsa-miR-3157-5p	CLIP-seq
MIRT942509	hsa-miR-3161	CLIP-seq
MIRT942512	hsa-miR-34c-3p	CLIP-seq
MIRT2214214	hsa-miR-3529	CLIP-seq
MIRT2214215	hsa-miR-3591-3p	CLIP-seq
MIRT2214216	hsa-miR-3607-5p	CLIP-seq
MIRT2214217	hsa-miR-3692	CLIP-seq
MIRT942510	hsa-miR-377	CLIP-seq
MIRT2214218	hsa-miR-379	CLIP-seq
MIRT2214219	hsa-miR-3922-5p	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT2214220	hsa-miR-4425	CLIP-seq
MIRT2214221	hsa-miR-4436b-5p	CLIP-seq
MIRT2214222	hsa-miR-4450	CLIP-seq
MIRT2214223	hsa-miR-4451	CLIP-seq
MIRT2214224	hsa-miR-4536	CLIP-seq
MIRT2214225	hsa-miR-4643	CLIP-seq
MIRT2214226	hsa-miR-4650-3p	CLIP-seq
MIRT2214227	hsa-miR-4691-3p	CLIP-seq
MIRT2214228	hsa-miR-4717-5p	CLIP-seq
MIRT2214229	hsa-miR-4753-5p	CLIP-seq
MIRT2214230	hsa-miR-4775	CLIP-seq
MIRT2214231	hsa-miR-4781-3p	CLIP-seq
MIRT1979072	hsa-miR-485-3p	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT2214232	hsa-miR-887	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT2387056	hsa-miR-4668-3p	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT2387056	hsa-miR-4668-3p	CLIP-seq
MIRT2679378	hsa-miR-548ae	CLIP-seq
MIRT2679379	hsa-miR-548aj	CLIP-seq
MIRT2679380	hsa-miR-548am	CLIP-seq
MIRT2679381	hsa-miR-548x	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APC	Repression	12538344
DMAP1	Unknown	20864525
E2F1	Repression	24502362
EP300	Activation	19275888
HBP1	Repression	23249948
HDAC1	Unknown	23242655
HDAC2	Repression	22328086
NPM1	Unknown	19887607
SP1	Activation	19211935;20570896
SP1	Repression	20570896
SP1	Unknown	19201992
STAT3	Activation	16861352;21944426
STAT3	Unknown	19887607;23604529
TP53	Activation	20570896
TP53	Repression	20570896;21478913
TP53	Unknown	18555750

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10888872
GO:0000792	Component	Heterochromatin	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	18754681
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IBA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	21745816
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	TAS	8940105
GO:0005515	Function	Protein binding	IPI	15161933, 16357870, 16983096, 17673620, 17934516, 17972916, 19282482, 19450230, 19798101, 21151116, 21653829, 21745816, 21947282, 22094255, 24492612, 25544563, 25753001, 27728808, 29691401, 32051553, 35271311
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8940105
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008327	Function	Methyl-CpG binding	IEA
GO:0009008	Function	DNA-methyltransferase activity	IDA	18754681
GO:0009008	Function	DNA-methyltransferase activity	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18413740
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	27021683
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043045	Process	Epigenetic programming of gene expression	IEA
GO:0043073	Component	Germ cell nucleus	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IBA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IDA	18754681, 21745816
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	24623306
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	TAS	20820192
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0106222	Function	LncRNA binding	IEA
GO:0141119	Process	Chromosomal DNA methylation maintenance following DNA replication	IEA
GO:0141119	Process	Chromosomal DNA methylation maintenance following DNA replication	TAS	20820192
GO:1903926	Process	Cellular response to bisphenol A	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	27021683
GO:1905460	Process	Negative regulation of vascular associated smooth muscle cell apoptotic process	IMP	27021683
GO:1905931	Process	Negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching	IMP	27021683
GO:1990841	Function	Promoter-specific chromatin binding	IDA	24623306

Other IDs

• MIM: 126375
• HGNC: 2976
• e!Ensembl: ENSG00000130816

Protein

• UniProt ID: P26358
• Protein name: DNA (cytosine-5)-methyltransferase 1 (Dnmt1) (EC 2.1.1.37) (CXXC-type zinc finger protein 9) (DNA methyltransferase HsaI) (DNA MTase HsaI) (M.HsaI) (MCMT)
• Protein function: Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates
• PDB: 3EPZ, 3PTA, 3SWR, 4WXX, 4YOC, 4Z96, 4Z97, 5WVO, 5YDR, 6K3A, 6L1F, 6X9I, 6X9J, 6X9K, 7SFC, 7SFD, 7SFE, 7SFF, 7SFG, 7XI9, 7XIB, 8V9U, 8XQC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06464	DMAP_binding	16 → 105	DMAP1-binding Domain	Domain
  PF12047	DNMT1-RFD	399 → 534	Cytosine specific DNA methyltransferase replication foci domain	Domain
  PF02008	zf-CXXC	645 → 691	CXXC zinc finger domain	Domain
  PF01426	BAH	755 → 880	BAH domain	Domain
  PF01426	BAH	931 → 1100	BAH domain	Domain
  PF00145	DNA_methylase	1139 → 1594	C-5 cytosine-specific DNA methylase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; highly expressed in fetal tissues, heart, kidney, placenta, peripheral blood mononuclear cells, and expressed at lower levels in spleen, lung, brain, small intestine, colon, liver, and skeletal muscle. Isoform 2 is less exp
• Sequence:

  MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQ
  LCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRV
  GMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKGPAKRKP
  QEESERAKSDESIKEEDKDQDEKRRRVTSRERVARPLPAEEPERAKSGTRTEKEEERDEK
  EEKRLRSQTKEPTPKQKLKEEPDREARAGVQADEDEDGDEKDEKKHRSQPKDLAAKRRPE
  EKEPEKVNPQISDEKDEDEKEEKRRKTTPKEPTEKKMARAKTVMNSKTHPPKCIQCGQYL
  DDPDLKYGQHPPDAVDEPQMLTNEKLSIFDANESGFESYEALPQHKLTCFSVYCKHGHLC
  PIDTGLIEKNIELFFSGSAKPIYDDDPSLEGGVNGKNLGPINEWWITGFDGGEKALIGFS
  TSFAEYILMDPSPEYAPIFGLMQEKIYISKIVVEFLQSNSDSTYEDLINKIETTVPPSGL
  NLNRFTEDSLLRHAQFVVEQVESYDEAGDSDEQPIFLTPCMRDLIKLAGVTLGQRRAQAR
  RQTIRHSTREKDRGPTKATTTKLVYQIFDTFFAEQIEKDDREDKENAFKRRRCGVCEVCQ
  QPECGKCKACKDMVKFGGSGRSKQACQERRCPNMAMKEADDDEEVDDNIPEMPSPKKMHQ
  GKKKKQNKNRISWVGEAVKTDGKKSYYKKVCIDAETLEVGDCVSVIPDDSSKPLYLARVT
  ALWEDSSNGQMFHAHWFCAGTDTVLGATSDPLELFLVDECEDMQLSYIHSKVKVIYKAPS
  ENWAMEGGMDPESLLEGDDGKTYFYQLWYDQDYARFESPPKTQPTEDNKFKFCVSCARLA
  EMRQKEIPRVLEQLEDLDSRVLYYSATKNGILYRVGDGVYLPPEAFTFNIKLSSPVKRPR
  KEPVDEDLYPEHYRKYSDYIKGSNLDAPEPYRIGRIKEIFCPKKSNGRPNETDIKIRVNK
  FYRPENTHKSTPASYHADINLLYWSDEEAVVDFKAVQGRCTVEYGEDLPECVQVYSMGGP
  NRFYFLEAYNAKSKSFEDPPNHARSPGNKGKGKGKGKGKPKSQACEPSEPEIEIKLPKLR
  TLDVFSGCGGLSEGFHQAGISDTLWAIEMWDPAAQAFRLNNPGSTVFTEDCNILLKLVMA
  GETTNSRGQRLPQKGDVEMLCGGPPCQGFSGMNRFNSRTYSKFKNSLVVSFLSYCDYYRP
  RFFLLENVRNFVSFKRSMVLKLTLRCLVRMGYQCTFGVLQAGQYGVAQTRRRAIILAAAP
  GEKLPLFPEPLHVFAPRACQLSVVVDDKKFVSNITRLSSGPFRTITVRDTMSDLPEVRNG
  ASALEISYNGEPQSWFQRQLRGAQYQPILRDHICKDMSALVAARMRHIPLAPGSDWRDLP
  NIEVRLSDGTMARKLRYTHHDRKNGRSSSGALRGVCSCVEAGKACDPAARQFNTLIPWCL
  PHTGNRHNHWAGLYGRLEWDGFFSTTVTNPEPMGKQGRVLHPEQHRVVSVRECARSQGFP
  DTYRLFGNILDKHRQVGNAVPPPLAKAIGLEIKLCMLAKARESASAKIKEEEAAKD

• Sequence length: 1616

Pathways

KEGG:

Cysteine and methionine metabolism
Metabolic pathways
MicroRNAs in cancer

Reactome:

PRC2 methylates histones and DNA
SUMOylation of DNA methylation proteins

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
Autosomal dominant cerebellar ataxia, deafness and narcolepsy	Likely pathogenic; Pathogenic	rs2145253354, rs199473690, rs397509391, rs397509392, rs397509393, rs2038416963	RCV002249028 RCV002283444 RCV000043631 RCV000043632 RCV000043633 RCV001254069	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs199473690	RCV000789093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary sensory neuropathy-deafness-dementia syndrome	Likely pathogenic; Pathogenic	rs1599366421, rs2145253737, rs199473692, rs199473690, rs199473691, rs397509391, rs397509392, rs397509393	RCV001378601 RCV001385365 RCV000149568 RCV000022529 RCV000022530 RCV003447103 RCV002513639 RCV003447104	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary stalk interruption syndrome	Likely pathogenic	rs2038202226	RCV001257292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs1555687655	RCV001647249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, DEAFNESS AND NARCOLEPSY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR-CELL METASTATIC RENAL CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGLUTITION DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, Deafness, and Sensory Neuropathy	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNMT1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOMINANTLY INHERITED SENSORY NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	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 esophagus	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY, TYPE IE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC INTRAEPITHELIAL NEOPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY NEUROPATHY, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraparesis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	28814964		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	28814964		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25444908		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	24085765, 25315154		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22820861		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16053511, 17053888		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17053888		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	24025864		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27190263, 31194977		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	26535659		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	24296317, 25738352, 28938637		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	37528470	Associate	★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	29137822		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19155313		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27543768, 28429280, 29484388, 30560106		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30481581		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18628954, 19117641, 23308199, 23365052, 36646969	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	18628954, 23365052, 26079324		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29442527		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22090490, 23900692		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26210997, 38013317	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30371224		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	32057913	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27637577, 30592273		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24423239, 26589701		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	23791455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	23791455		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31001930	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27194055		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19958400, 24865430, 26606905, 27295295, 27530451, 28472596, 29118325, 29301785, 30659837, 31104361		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28349196	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29475367		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23277489, 25042153, 26464634	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26330155	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CTD_human_DG	23423710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	18512766, 26892683		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	22328086, 27602171, 31957642	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	24025864	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	9587073		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19958400, 24865430, 26606905, 27295295, 27530451, 28472596, 29118325, 29301785, 30659837, 31104361		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33649864	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	23049933, 37861555	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25578964, 30786140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30368628, 30786140, 30840040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	30786140, 31763860		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30786140	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15375672, 17893979, 28336124, 31639516		★☆☆☆☆ Found in Text Mining only
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	Cerebellar Ataxia, Deafness And Narcolepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	24631383		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25739334	Associate	★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15467427		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	24025864	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	14511489, 30165906		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11563853, 11870882, 25738352, 28735516		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	33227819	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	21857377		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	29748604	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15684088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15684088, 17270400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	15684088, 17270400, 25476119, 34282735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12594811, 25888794, 27906180, 28848075, 28851690, 30015946, 31270502, 31300491		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	29772439, 30072211		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	22520950	Stimulate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	21592522, 22206711		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24492612	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12789259, 14614325, 15126351, 15755728, 18221536, 19798569, 20820192, 20980350, 21105050, 21170675, 21359954, 22935141, 22975348, 23079992, 24464625, 24502362, 24532317, 24924415, 25358520, 26588862, 26672991, 26980709, 27071379, 27197203, 27436059, 27768961, 28055119, 28544374, 29416775, 29973691, 30002602, 30178275, 30287284, 31012189, 31077613, 31296961, 31657150		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	22520950, 28544374		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14614325, 15755728, 16322686, 18221536, 18505931, 18670789, 19358274, 19459041, 20625516, 21655924, 22520950, 22664488, 22935141, 24502362, 25178277, 25315069, 26070560, 26588862, 26672991, 26980709, 27071379, 27554481, 28867761, 29689276, 29975921, 30178275, 30537986, 31404982, 31657150, 32636303, 32938226, 34313525, 34321149, 36725842, 36788602, 37403081, 39597087, 40230289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27159275	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	19484794		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	21592522, 22206711		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	30940675		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	25746661, 29100357		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32424339	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	25349215, 29706891		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15087453, 16053511, 16230360, 18065205, 20354000, 20467490, 21999220, 24423239, 24637615, 24675762, 26120002, 26162541, 26307088, 26862732, 29975921, 32393833, 33446634, 33500531, 34104084, 35798319, 37548553	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15821584, 15867357, 25461380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	21458988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26535659	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	16053511	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	22455563	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20044957, 20398055, 21625215, 23145177, 23545144, 26099202, 26254611, 26575952, 26850594, 28321157, 28627705, 29425759, 30575322, 31002127, 33247696, 34319031, 35092191, 36087682, 36535531	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	18065205, 24292451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	15999364	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12594811, 22609058, 25888794, 27906180, 28848075, 28851690, 30015946, 31270502, 31300491		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15126351, 16004934, 19596925, 20570896, 23843100, 24441677, 24908436, 26085088, 27582487, 27620163, 28427182, 28869603, 28938637, 29416619, 29568927, 29805653		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	22768205, 23390377, 27322684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	16053511, 24423239, 27261509, 36076515	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24849932, 25550796, 28160561, 34133843	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18414412, 20951977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	18404674		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	17571247		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11531283, 23666104, 24475290, 25968887, 28791708, 29338433, 29367628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	29844410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34713710	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20920981		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28807460, 29155363, 31131629		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30548403	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	33649864	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	Pubtator	31957642	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	30172102		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23365052, 23904686, 24727570, 27602171, 30342480, 37584462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia Deafness and Narcolepsy	Cerebellar ataxia, deafness, and narcolepsy	Pubtator	22328086, 23904686, 24727570, 25033457, 27602171, 37584462	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Deafness, and Narcolepsy	Cerebellar Ataxia, Deafness And Narcolepsy	BEFREE	23365052, 23904686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia, Deafness, and Narcolepsy	Cerebellar Ataxia, Deafness And Narcolepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	CLINGEN_DG	21532572, 22328086, 23365052, 23521649, 23904686, 24727570, 25033457, 25678562, 27602171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	BEFREE	22328086, 23521649, 23904686, 24709307, 24727570, 27277422, 27602171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	UNIPROT_DG	22328086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	ORPHANET_DG	22328086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	GENOMICS_ENGLAND_DG	23904686, 24709307, 25033457, 9449671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	Cerebellar Ataxia, Deafness And Narcolepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	36802116	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17828306, 21042757, 21999220, 28077801, 28459195, 31038361, 31810492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	17828306, 21042757, 21887463, 21999220, 28077801, 28459195, 31038361, 31810492		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26211580		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19155313		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27543768, 28429280, 29484388, 30560106		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	31143777		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	18563322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20146264, 24361215, 26465660, 29642935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22819820, 25799509, 35550144, 37486965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	35550144	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	24462704		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	BEFREE	31628193		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	31316135		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15467427, 16670263		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	25410542		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11230735, 17549390, 31316135		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	CTD_human_DG	27292127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	25678562, 27602171, 31601979	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	23365052	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27915032		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26862732, 33980925	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16473673, 17660710, 19156137, 19723660, 20354000, 22961839, 23064049, 23708667, 25576785, 26307088, 29901158, 30348202, 31065074, 31807076		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	19723570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	26307088, 34086943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30663502, 31154022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10463569, 12637155, 17093909, 17657744, 18327804, 20192566, 23364257, 24464786, 25107489, 25207720, 26497367, 29608915, 30080023, 30936995, 31058532, 31228495, 31448663, 31477841		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16230360, 17307743, 18198215, 19723660, 20354000, 21123457, 21408221, 21785137, 22415137, 22961839, 23368921, 23708667, 24172061, 24518414, 25107489, 25288757, 25753001, 26108676, 26120002, 26179333, 26307088, 27356727, 28241740, 28300471, 28675510, 28954936, 30348202, 30880552, 31448663, 32592383, 32711442, 32918845, 36214504	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17093909, 17657744		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23708667		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24324066	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	27277422		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26725685		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	21857377		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19292979		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25799509		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25596970		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21303982, 24849932, 25550796, 27292127, 28093267, 28749461, 28978010, 30037856		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29410709	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30857550	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25596970		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30110565		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29313974		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23365052, 23904686, 24727570, 25678562, 27602171, 30342480, 37584462	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 68	Deafness	CLINVAR_DG	26805784		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18954998, 23277489		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	21532572, 23365052, 23771421, 24727570, 25669430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	21532572, 23365052	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	34230007	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	38013317	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	34282735	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	16897079		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	16897079		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19155313		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35172867	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30347077, 30548403		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	30548403	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34580843	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28422052, 30347077, 30548403, 31226384		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34233433	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28215845	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28215845, 30548403	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26079428, 27322146		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30496316, 30548403, 37861555	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36765416	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28318634, 30496316, 30548403		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29074044, 29137822		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29379364		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	16053511, 16537562, 24502362		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	16053511		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	31275144		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16897079		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18404674, 22343305, 23530769, 24497324, 28408839, 30146796		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	18404674		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18404674		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21316665, 21543766, 24497324, 29228451	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17081533		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17081533, 32802844	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	31426844	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	21826395, 31426844		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25337902, 25886188, 29721170, 30735457, 31117802		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22901195, 25337902	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25337902, 25886188, 29721170, 30735457, 31117802		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25886188, 25923331, 30363984, 31226958, 31962291, 33345608	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	22901195	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	29400588		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	29400588	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	CTD_human_DG	21532572		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25004396		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30177770		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	29425759	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22879518, 25290169		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	31426844		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	24464625		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12821352, 19218588, 31843095		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27939986, 30010033		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	23888945		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	25929520		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	23365052		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23365052	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	32636303	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29693707		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	29693707	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	23049933		★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	25349215		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20613874, 25595591, 25625875, 28036297, 28764788, 29228563, 30896862, 30982493, 31277942		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22264301, 25328136, 28036297, 28764788, 30982493	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19465937, 20613874, 25595591, 25625875, 28036297, 29228563, 30896862, 30982493, 31277942		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18616639, 20613874, 22264301, 24077826, 24833086, 28036297, 28595085, 28764788, 28802229, 30863117		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22264301, 25328136, 28036297, 28764788, 30982493, 32882013, 34227028, 35798319, 37330579, 37481646	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34861820	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39516745	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	23676554		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	23039890, 27237591, 29336230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	23039890, 25617714, 27237591	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21284050, 27391030		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33919657	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21532572, 23365052, 24727570, 25678562, 27602171, 30111769, 30342480	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	28414276	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30548403	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	34482802	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	33016928	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27582487, 28548080		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36309209	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	33227819	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	23025388	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29497996		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	20044957	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	38452586	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23545144	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26850594	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	26850594	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29507645		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	38285887	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17571247, 21458988		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	27217339		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	21532572, 23521649, 24727570, 25033457, 25678562, 27277422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	21532572, 23365052, 24727570, 25033457, 25678562, 30548403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	GENOMICS_ENGLAND_DG	21532572, 23365052, 23904686, 24709307, 9449671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	21532572, 23365052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	UNIPROT_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	22328086, 23365052, 25033457	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	BEFREE	25033457, 30342480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	27277422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 2	Hereditary sensory and autonomic neuropathy	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory neuropathy-deafness-dementia syndrome	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Sensory Radicular Neuropathy	Hereditary sensory and autonomic neuropathy	CTD_human_DG	21532572		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	31394080		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21752916	Inhibit	★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	CTD_human_DG	21532572		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	24704462, 29037594		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28472596, 29908298		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29400588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	29148180, 30092411, 31791376		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29336230		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34593020	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	25079072		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30367912		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20543577, 25794157	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35244512	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35781537	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27021683		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23306545, 29568927		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29497996		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36427447	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31601979		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	23075413, 28894282	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28894282	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20354000		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22595877	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	27190044	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	22819820		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	16053511, 20920981		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	29259247		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29608786		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37861555	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30177770		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34427325	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26872375, 27859417		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11222358, 16670263, 23507483, 24908436, 25444908, 25948775, 26577244, 27885273, 28415607, 29423093, 31628193		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11222358, 25948775, 29120412, 31628193, 34073721, 38345160	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11222358, 19211935, 19279403, 19509169, 22976956, 26686245, 27259275, 29674693, 31060628, 32597790, 33356802, 35285586, 36329185, 38164802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	29259247	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22820861	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11222358, 15735013, 18413836, 23178755, 23457487, 23493348, 24085765, 25315154, 26983918, 27259275, 27881579, 27885273, 28489348, 28993705, 29554483, 29668254, 29674693, 30599207, 30720097, 31766421		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Accelerated Phase	Myeloid Leukemia	BEFREE	30072211		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	29710483		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	20951977		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	21296890		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11230735, 12605361, 12637155, 15885882, 17549390, 18049164, 18593903, 19399937, 19732323, 20044957, 20398055, 20578129, 22362755, 23770846, 24247422, 24714841, 24911372, 25420499, 26099202, 26239364, 26254611, 26299326, 26575952, 26850594, 27487275, 28339081, 28627705, 30014490, 30064482, 30177770, 30575322, 30626493, 30692513, 30711627, 31060424, 31097223, 31138789, 31316135		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18049164		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11230735, 17549390, 31316135		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	31948396	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30711627		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15087453, 16434257, 21246532, 24244422, 28427182, 31746077, 35996715, 38376279	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17140695, 26112163, 27582487		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24441677	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29568927	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18523434, 20483747, 22044622, 23054340, 23428850, 23706494, 28336124, 29074164, 29649575, 30502346		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15879118, 28349196	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15879118, 18194272, 19380809, 21538319, 23775084, 24577881, 25986394, 32248020, 33282947	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18523434, 20483747, 22044622, 23054340, 23428850, 23706494, 28336124, 29074164, 29649575, 30502346		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15375672, 17492476, 18523434, 19380809, 19444718, 20483747, 21078759, 21192791, 21346232, 21538319, 21595664, 22044622, 23029299, 23054340, 23127209, 23142053, 23428850, 23706494, 23775084, 24117194, 25899090, 25986394, 27737517, 28336124, 28349196, 29074164, 29649575, 30502346		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17492476		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18523434, 20483747, 22044622, 23054340, 23428850, 23706494, 28336124, 29074164, 29649575, 30502346		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25550796	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	15762053		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31628193		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31628193	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	30470842		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	30470842		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	24862567		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	12530095, 9395354		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21592522		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21284050, 27391030		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	28901456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12789259, 14614325, 15126351, 15755728, 18221536, 19798569, 20820192, 20980350, 21105050, 21170675, 21359954, 22520950, 22664488, 22935141, 22975348, 23079992, 24297604, 24375250, 24464625, 24502362, 24532317, 24924415, 25358520, 26588862, 26672991, 26980709, 27071379, 27197203, 27436059, 27768961, 28055119, 28253728, 28544374, 29416775, 29973691, 30002602, 30178275, 30287284, 31012189, 31077613, 31296961, 31657150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	22520950, 28544374		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30146796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25337902, 25886188, 29721170, 30735457, 31117802		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29693707		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26850594, 31002127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15126351, 16004934, 19596925, 20570896, 23843100, 24441677, 26085088, 27582487, 27620163, 28427182, 28869603, 28938637, 28968956, 29416619, 29568927, 29805653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11531283, 23666104, 24475290, 25968887, 28791708, 29338433, 29367628, 29615458		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20234167, 22110720, 22688058, 24448385, 26454216, 26847351, 27261509, 28659310, 30226601		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pharynx	Malignant Pharyngeal Neoplasm	BEFREE	21284050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11563853, 11870882, 16046710, 16397253, 18637271, 19539327, 20809552, 21980391, 22539223, 23254386, 25738352, 27659015, 28814964, 29596883		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	22581815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11146446, 12637155, 16949912, 19539327, 20192608, 22167392, 22942708, 23049933, 23549984, 25270964, 25595591, 27087738, 27789275, 29221147, 29541249, 29956566, 30778796, 31534549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17571247, 21458988		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	16960727, 28622390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28968956		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12594811, 22609058, 25888794, 27906180, 28848075, 28851690, 30015946, 31270502, 31300491		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10463569, 11531283, 11870882, 12095279, 14579248, 15618232, 16230360, 16424002, 16532039, 16861352, 17093909, 17612710, 18089774, 19118013, 19339266, 19465937, 20354000, 20381114, 20980350, 21284050, 21887463, 22167392, 22362755, 22820861, 23517596, 23652987, 23839987, 23888962, 24025864, 24084367, 24908436, 25461380, 25595591, 25798837, 25886188, 25908435, 27197203, 27487275, 27582487, 27659015, 27697644, 28159994, 28233878, 28427182, 28473984, 28758420, 28802229, 28811844, 29137822, 29236331, 29403274, 29484388, 29574992, 29759990, 30064482, 30146796, 30226601, 30663502, 30901675, 31068247, 31068808, 31117802, 31713648, 31736067, 31754130, 31810492		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	16960727		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21042757, 21999220, 28077801, 28459195, 31038361, 31810492		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16473673, 17660710, 19156137, 19723660, 20354000, 22961839, 23064049, 23708667, 25576785, 26307088, 29901158, 30348202, 31807076		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	19723570		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	22520950, 28544374		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15755728, 18505931		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	22520950, 28544374		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29137356, 29574992, 30359738, 31077613		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	22520950, 28544374		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	28278702, 28901456		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	19155313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	BEFREE	27543768, 28429280, 29484388, 30560106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	Pubtator	27543768	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19155313		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16497664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16510600, 32679231, 36397155	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21796622, 23202046, 27237979, 29313974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29313974	Associate	★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19155313		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30499223		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	23365052	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23441133, 26840621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	23441133	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	23025623, 25033457, 30397000		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	20587528	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	16434257, 19233506	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39819282	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28279371, 28628560, 28807460, 29301785, 30371334		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21592522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	21592522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	35172867	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	31171909	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	15999364		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	37372315	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	26871472, 30190513		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19531770, 28490812		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23087257, 24875904, 25330074, 28186131	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24735979	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	18413836		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18413836, 18829110, 22571700, 23287564, 25122688, 26983918, 27881579, 30310057, 30599207		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20004793, 25122688, 27457352, 32431489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11222358, 25389112, 28599500		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30362530		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	22328086, 23365052, 23904686, 24727570, 25033457, 25197808, 25678562, 27602171, 30342480, 32669953, 37584462	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	23365052, 23497937, 23725858, 25033457, 25669430		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26530812, 26975503, 28360411, 29628766, 29795311, 30353102, 31394414, 9395354		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29795311, 30353102	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10773079, 12738984, 12821352, 15126351, 15857581, 15867357, 16204030, 16204069, 16424002, 16537562, 16547506, 17621273, 18404674, 18416454, 18485790, 19118013, 19211935, 19383817, 19399937, 19470736, 20146264, 20354000, 20381114, 20570896, 20592467, 20596618, 20825972, 20833755, 20920981, 21042757, 21496237, 21539677, 21610323, 21796622, 21842375, 21868513, 21999220, 22362755, 22405694, 23177624, 23368921, 23441133, 23457487, 23517596, 23613894, 23688286, 23770846, 24084367, 24296317, 24361215, 24375250, 24448385, 24583822, 24714841, 24833086, 24911372, 25004396, 25319390, 25349215, 25461380, 25550796, 25566693, 25625875, 25755696, 25948775, 26085088, 26162541, 26298164, 26299326, 26305882, 26372775, 26503055, 26840621, 26848521, 27071379, 27190263, 27237979, 27259275, 27286455, 27421653, 27422817, 27501331, 27885273, 27906180, 28489348, 28730335, 28758420, 28791708, 28835422, 28848075, 28927055, 28938637, 28993705, 29137356, 29247823, 29554483, 29628766, 29673587, 29735547, 29747501, 29759990, 29956566, 29959201, 29973691, 30002361, 30177770, 30287284, 30385365, 30470842, 30548332, 30714531, 31006654, 31058319, 31077613, 31154022, 31296961, 31300491, 31615043, 31637008, 31686915, 31696464, 31746077, 31754130, 31810492		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	23441133		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25192503, 25678562		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	36394275	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20841484	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21532572, 31984424	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21532572, 23771421, 24709307, 28338387, 31804802		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	20381114, 30190513		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	26840621, 28764788		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	33707600, 35789380	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30548403		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	33509441	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12101420, 16888795, 17053888, 18414412, 23461975, 23939044, 26112163, 27190263, 28615992, 28938637, 29805653, 29920222, 31819506		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15684088, 17259861		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26527284, 29400588, 34139469, 35712246	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27885273, 29145563, 30177770		★☆☆☆☆ Found in Text Mining only
Ogden syndrome	Ogden Syndrome	BEFREE	28943313		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24631383, 31030726		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	33270637, 37584462	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35288246	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	37459905	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29416922, 29673587, 29735547, 29959201, 31686915		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31114984	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	34799276	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11531283, 23666104, 24475290, 25968887, 28791708, 29338433, 29367628		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	14559786		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16532039, 19331143, 22430797, 22768205, 23666104, 24475290, 27195958, 28222434, 29367628, 29759079, 33289590, 37386587	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	19539327		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20234167, 22110720, 22688058, 24448385, 26454216, 26847351, 27261509, 28659310, 30226601		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24423239, 30385365		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20234167, 22110720, 24448385, 25960197, 27261509, 33416135, 34854226	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25378232, 30915752		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27696538		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	27217339	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21296890, 27336847, 28041964		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26889637	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	27979753		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	22512277		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	22875665, 29046054		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	21532572, 30342480	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	30002361		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	30002361	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22259221		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33212300	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	30548403	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	10463569		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25065861		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25444908		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29100357		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	21532572, 23365052, 23771421, 24727570, 25669430		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29297981		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	28966666		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11563853, 11870882, 16046710, 16397253, 18637271, 19539327, 20809552, 21980391, 22539223, 23254386, 25738352, 27659015, 28814964, 29596883		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	25738352, 28735516	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	16397253		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	CTD_human_DG	22581815		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17698033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18637271, 21990314, 22539223, 23888969, 24001151, 25349215, 25738352, 25938433, 31090214, 34227253, 36050516, 37900138, 37967200, 40022828	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	22581815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	15684088, 17259861		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	15684088, 17270400	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35244512, 35581740	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30686068	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23306545, 29568927, 30815999		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29475367		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12594811, 16453286, 21303982, 25550796, 28093267, 28978010		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25892014, 28285987, 30095214		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17053888, 20959668		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	18977197		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23277489, 25042153, 25194984, 29475367, 30345838		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	30845941		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	36399874	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35712255	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	24675762	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14684836, 15671176, 15684088, 17259861, 17270400, 17965595, 19386473, 23938174, 24702539, 24859147, 25476119, 30397000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	14684836, 17965595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	15684088, 25476119, 34282735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17270400, 19386473, 23938174, 24859147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17270400	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	19054252		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	23041765, 25986394	Associate	★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	20522431		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23365052, 25678562	Associate	★☆☆☆☆ Found in Text Mining only
Senile Paranoid Dementia	Senile Paranoid Dementia	CTD_human_DG	21532572		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23771421		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	23365052		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	CTD_human_DG	21532572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	36427447	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30784922, 31632618		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29074164	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29559689, 30596070		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28159994, 29559689	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	27217339	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	18252747		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	31984424	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	24464625		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12738984, 17053888		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17053888, 17140695, 18485790, 20951977, 26966018, 27391030		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21539677, 22901195, 24576011, 25512445, 25886188, 27286455, 28927055, 29247823, 29721170, 30363984, 31226958		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19430297, 22461910, 22847005, 28814981, 33369458, 34427325, 37876534	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33500531, 37667354	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22461910		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22905112, 30177770		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11496321, 19339266, 20192608, 22167392, 22942708, 23049933, 23549984, 25270964, 25595591, 27087738, 27789275, 29221147, 29541249, 29956566, 30778796, 31534549		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15526354, 22942708, 23049933, 23549984, 25009393, 27087738, 33527791, 35278883, 35549646, 36147796, 37147733, 37691391	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17571247, 21458988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18253830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	Pubtator	37372315	Associate	★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	25004396	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19054252, 25986394		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	12594811		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	17548962, 25231260		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	17548962, 25231260	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	23619976	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	23820632		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	33509441	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25378232, 30915752, 31591432, 34104084	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28968956		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28968956		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29389913, 32390600	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27237591	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	28323001		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24336635, 25319390, 26162541, 26459286, 27071379, 29156515, 29708513, 29975921, 30121333		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26162541, 26459286, 37548553, 38356412	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27071379	Stimulate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21523767, 25284287, 25865490, 27906180, 28848075, 35685866, 35880568	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28851690	Stimulate	★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	25349215	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	25349215	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	23618899, 29147491		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	16053511, 18065205	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21999220, 23688286, 27509954, 28077801, 31068247, 33616161, 36692670, 39233331, 39331483	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12821352, 19218588, 31843095		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	24441913	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15526363		★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar lichen sclerosus	Pubtator	33438816	Stimulate	★☆☆☆☆ Found in Text Mining only