SOX2 (SRY-box transcription factor 2)

Gene

• Entrez ID: 6657
• Gene name: SRY-box transcription factor 2
• Gene symbol: SOX2
• Synonyms (NCBI Gene): ANOP3, MCOPS3
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenanc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005370	hsa-miR-126-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21304604
MIRT005370	hsa-miR-126-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21304604
MIRT005692	hsa-miR-522-3p	Luciferase reporter assay, Western blot	21304604
MIRT000307	hsa-miR-145-5p	FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR	19409607
MIRT000307	hsa-miR-145-5p	FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR	19409607
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006227	hsa-miR-34c-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT007030	hsa-miR-140-5p	Luciferase reporter assay	23060440
MIRT007030	hsa-miR-140-5p	Luciferase reporter assay	23060440
MIRT007184	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	23111103
MIRT007184	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	23111103
MIRT000307	hsa-miR-145-5p	Reporter assay;Western blot;qRT-PCR;Other	19409607
MIRT021924	hsa-miR-128-3p	Reporter assay	19409607
MIRT023259	hsa-miR-122-5p	Microarray	17612493
MIRT030694	hsa-miR-21-5p	Microarray	18591254
MIRT000307	hsa-miR-145-5p	Luciferase reporter assay	23541921
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT030694	hsa-miR-21-5p	Immunoblot, Immunohistochemistry, In situ hybridization, Northern blot, qRT-PCR	22931209
MIRT030694	hsa-miR-21-5p	Immunoblot, Immunohistochemistry, In situ hybridization, Northern blot, qRT-PCR	22931209
MIRT054380	hsa-miR-625-5p	Luciferase reporter assay, qRT-PCR, Western blot	24508466
MIRT054761	hsa-miR-638	Luciferase reporter assay, Immunofluorescence, Western blot, qRT-PCR	24885288
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT000307	hsa-miR-145-5p	qRT-PCR	23312222
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT000307	hsa-miR-145-5p	qRT-PCR	23312222
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT732041	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26159827
MIRT732041	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26159827
MIRT000307	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	26681767
MIRT054761	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27878280
MIRT054761	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27878280
MIRT030694	hsa-miR-21-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	26558781
MIRT000307	hsa-miR-145-5p	qRT-PCR, Western blot	25928322
MIRT000307	hsa-miR-145-5p	qRT-PCR, Western blot	25928322
MIRT006227	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT053008	hsa-miR-340-5p	Western blotting, RNA-seq, qRT-PCR	32130794
MIRT005370	hsa-miR-126-3p	RNA-seq	33398982
MIRT737437	hsa-miR-590-3p	Western blotting, qRT-PCR, In situ hybridization	31781476
MIRT007184	hsa-miR-429	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	36913084
MIRT755482	hsa-miR-508-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, Immunofluorescence, In situ hybridization, Flow cytometry, RNA pull down assay	35318304
MIRT1380426	hsa-miR-1238	CLIP-seq
MIRT1380427	hsa-miR-1284	CLIP-seq
MIRT1380428	hsa-miR-132	CLIP-seq
MIRT1380429	hsa-miR-212	CLIP-seq
MIRT1380430	hsa-miR-300	CLIP-seq
MIRT1380431	hsa-miR-3124-3p	CLIP-seq
MIRT1380432	hsa-miR-3140-3p	CLIP-seq
MIRT1380433	hsa-miR-3163	CLIP-seq
MIRT1380434	hsa-miR-340	CLIP-seq
MIRT1380435	hsa-miR-381	CLIP-seq
MIRT1380436	hsa-miR-4666-3p	CLIP-seq
MIRT1380437	hsa-miR-4691-5p	CLIP-seq
MIRT1380438	hsa-miR-624	CLIP-seq
MIRT2113903	hsa-miR-1273e	CLIP-seq
MIRT2113904	hsa-miR-182	CLIP-seq
MIRT2113905	hsa-miR-4327	CLIP-seq
MIRT2336862	hsa-miR-518a-5p	CLIP-seq
MIRT2336863	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ID4	Unknown	23613880
KDM2A	Unknown	23872478
POU5F1	Activation	17068183

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18407919
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	18187129
GO:0001654	Process	Eye development	IEP	18285410
GO:0001714	Process	Endodermal cell fate specification	IDA	21245162
GO:0003677	Function	DNA binding	IDA	16153702, 18285410, 18407919, 19427902
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	7849401
GO:0003700	Function	DNA-binding transcription factor activity	IDA	16153702, 18027866
GO:0003700	Function	DNA-binding transcription factor activity	NAS	7849401
GO:0005515	Function	Protein binding	IPI	18456656, 19736317, 23667531, 24048479, 24525231, 25416956, 25702638, 27334688, 29358331, 30442713, 31515488
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	16153702
GO:0005634	Component	Nucleus	IDA	17291498, 18027866, 18285410
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7849401
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	TAS	19736317
GO:0005737	Component	Cytoplasm	IDA	18027866
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18000303
GO:0006325	Process	Chromatin organization	NAS	7849401
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	16153702
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	7849401
GO:0007420	Process	Brain development	IBA
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0010468	Process	Regulation of gene expression	IMP	18388306
GO:0016607	Component	Nuclear speck	IEA
GO:0021781	Process	Glial cell fate commitment	NAS	17291498
GO:0021983	Process	Pituitary gland development	IEP	18285410
GO:0021984	Process	Adenohypophysis development	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030900	Process	Forebrain development	IBA
GO:0030900	Process	Forebrain development	IEP	18285410
GO:0035019	Process	Somatic stem cell population maintenance	IDA	19409607
GO:0035019	Process	Somatic stem cell population maintenance	IMP	18388306, 19736317
GO:0035198	Function	MiRNA binding	IDA	18710938
GO:0042246	Process	Tissue regeneration	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	18187129
GO:0043565	Function	Sequence-specific DNA binding	IDA	20713518
GO:0045471	Process	Response to ethanol	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18407919, 29253717
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21245162
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18027866
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048839	Process	Inner ear development	IBA
GO:0048839	Process	Inner ear development	IEP	18407919
GO:0050998	Function	Nitric-oxide synthase binding	IEA
GO:0070848	Process	Response to growth factor	IDA	18187129
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18285410
GO:0090649	Process	Response to oxygen-glucose deprivation	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:1902807	Process	Negative regulation of cell cycle G1/S phase transition	IDA	18268498
GO:1904520	Process	Regulation of myofibroblast cell apoptotic process	IEA

Other IDs

• MIM: 184429
• HGNC: 11195
• e!Ensembl: ENSG00000181449

Protein

• UniProt ID: P48431
• Protein name: Transcription factor SOX-2
• Protein function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of
• PDB: 1O4X, 2LE4, 6T7B, 6T90, 6WX7, 6WX8, 6WX9, 6YOV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	41 → 109	HMG (high mobility group) box	Domain
  PF12336	SOXp	110 → 200	SOX transcription factor	Family

• Sequence:

  MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMA
  QENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLM
  KKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSYAHMNGWSNGSYSMMQDQLGY
  PQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
  GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
  GPVPGTAINGTLPLSHM

• Sequence length: 317

Pathways

KEGG:

Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells

Reactome:

POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Deactivation of the beta-catenin transactivating complex
Transcriptional regulation of pluripotent stem cells
Interleukin-4 and Interleukin-13 signaling

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
Anophthalmia	Pathogenic	rs2108522679, rs2473717674	RCV002291321 RCV002291331	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic; Likely pathogenic	rs398123693, rs1714847764, rs2108522652, rs2108521702, rs2108522196, rs2108522646, rs2108522776, rs2108523389, rs2108522189, rs2473717602, rs2473718812, rs2473718342, rs398122803, rs55683010, rs2108522980, rs104893799, rs104893800, rs104893801, rs104893802, rs104893803, rs104893804, rs104893805, rs104893806, rs587776776, rs2473718027, rs2108521935, rs2473716682, rs2473717246, rs2473719100, rs2473720054, rs1560264167, rs387906688, rs1553862958, rs1553862971, rs398122915, rs398122916, rs1553862927, rs771521201, rs1560264973, rs1560264395, rs1560264452, rs1714833474, rs750091101, rs1714843059, rs1714851160, rs1714839412, rs1714831656, rs1273721978, rs1714837282, rs1714842576, rs1560264293, rs1260218988, rs761248518, rs1714858949, rs1714861042, rs1714861435, rs1714864777, rs1714865486, rs1714875635, rs1714882477, rs1714883683, rs1714883776, rs1208628241	RCV001067610 RCV001342057 RCV001375935 RCV001388674 RCV001706841 RCV001884077 RCV001972593 RCV002226906 RCV002274418 RCV002289371 RCV002814358 RCV002904236 RCV003030830 RCV002307477 RCV001387936 RCV003333358 RCV000013662 RCV000013663 RCV000013664 RCV000013665 RCV000013666 RCV000013668 RCV000013669 RCV000013670 RCV000013676 RCV003515841 RCV003515806 RCV003628038 RCV003628445 RCV003883319 RCV004566404 RCV004577418 RCV000022771 RCV000022772 RCV000536949 RCV000551841 RCV000033025 RCV000033026 RCV002307563 RCV000644035 RCV000686087 RCV000705815 RCV000700513 RCV000735864 RCV001065976 RCV001061085 RCV001218665 RCV001226732 RCV001253803 RCV001267860 RCV001267865 RCV001267868 RCV001267869 RCV001267854 RCV001267861 RCV001267855 RCV001267864 RCV001267859 RCV001267867 RCV001267866 RCV001267858 RCV001267863 RCV001267857 RCV001267853 RCV001267870 RCV001267862 RCV001269466	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chorioretinal coloboma	Likely pathogenic	rs2108521642	RCV002291354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs1249553271	RCV001843562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs771521201	RCV005626133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia	Pathogenic	rs2473717120	RCV002291355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septo-optic dysplasia sequence	Pathogenic	rs398123693	RCV002293417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SOX2-related disorder	Pathogenic; Likely pathogenic	rs398123693, rs2473717827	RCV004549501 RCV004550639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amenorrhea	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract - microcornea syndrome	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia and abnormalities of the central nervous system	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA SPECTRUM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	29180744		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15910596, 20161759, 21334718, 21460799, 21687954, 22615765, 23086772, 23544055, 24481417, 24736592, 27766003, 28692180, 30405752, 31447265, 31610800		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of ampulla of Vater	Adenocarcinoma	BEFREE	16596179		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28059963, 28692180		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	23599173		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21931300, 24746758, 26780934, 28259951, 28737489, 29596469, 31059077		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	25184679		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	31772313		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	24828201, 29596469, 31113740		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18027866, 25921430, 30587606		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	30587606		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	29065337	Associate	★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25339068		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22937156, 23596255, 25061226, 28714964		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	18285410	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23544055, 24828201		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27298190, 29753274, 31401456, 31698192	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	25398365		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	31967981, 36655039	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22673189, 25124662, 28960306		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22854319, 24726753, 29174332, 30454027		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	24274717, 24898358		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	29609590		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	21518820		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21716161, 23301671		★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	25943891	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25586376, 27145457, 28404939, 28867247, 29643475, 30382189, 30899425, 31281487		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	19921648, 20454695, 21326281, 23701296	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmia/microphthalmia-esophageal atresia syndrome	Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anophthalmos	Syndromic microphthalmia	BEFREE	12612584, 15503273, 15812812, 16114045, 16145681, 16543359, 16892407, 16932809, 18174732, 18285410, 18385794, 18831064, 18987493, 19254784, 19397404, 19921648, 20454695, 21203406, 21326281, 24211324, 26250054, 27862890, 28659543, 29371155, 30450772, 31814023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	LHGDN	12612584, 16283891, 18831064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Anophthalmia	Pubtator	17522144, 18285410, 18385794, 18831064, 19471311, 19921648, 20454695, 20486942, 21203406, 21326281, 22171155, 22204637, 28659543, 29371155, 34562068, 35170016, 40280197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	CTD_human_DG	21532573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	20454695	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	23613260		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23544055, 24828201		★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	18474784		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	31232700		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23613880, 26701969, 27600094, 30248046		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23613880, 30248046	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34438162	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30450772		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27694900, 30264333		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	27096226, 27766003		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27766003, 35476812	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	24916376		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	20303530, 23089465		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	32278313	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	16543359, 29461140		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	26433762	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25326807, 28182001, 28240746, 28793245, 30397178, 31222373		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	29396848		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18831064, 34562068, 37017197	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	21275797	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20537983, 22069467, 22931209, 22937156, 23110111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	22937156, 37017197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	27935819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	BEFREE	22069467		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21276239, 21573501, 22237177, 22561374, 22800865, 23796710, 23815808, 24107627, 24178749, 24291232, 24297508, 24382260, 24885403, 25006803, 25223935, 25380620, 25444903, 25684141, 26460550, 26492085, 26683522, 27229858, 28121351, 28244015, 28288641, 28373426, 28602290, 28674712, 28740236, 28835684, 28882595, 28946143, 29044882, 29401647, 29802821, 30250195, 30272330, 30454027, 30464534, 30482236, 30574744, 30622340, 30628646, 30740360, 30759864, 31296961, 31336602, 31462898, 31584203, 31635802, 31844113		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17334350, 21276239, 22419067, 23060440, 23796710, 23815808, 23974095, 23982413, 24885403, 25127259, 25380620, 26460550, 27579892, 28422735, 28423718, 28590426, 28835684, 30622340, 30710426, 30927330, 31462898, 31853860, 32191225, 32576581, 33103351, 34076991, 34567804, 35966598, 36654075, 37549026, 37768037, 38031089, 40674376	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26001828, 27340107	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial disease	Pubtator	28199128	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	29677532		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18268498	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20372069, 21276239, 21304604, 22168803, 22615765, 23895273, 24482053, 24659665, 24937695, 25704506, 26159849, 28260055, 28692180, 29596469, 29720137, 32144236, 32873880, 35318304, 35332266, 35415876, 36701842, 37213675, 37967508, 39986058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38308202	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	33398982	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18027866, 18268498, 20709360, 23060121, 23544055, 23722508, 24489842, 26343384, 28700423, 28842747, 29536377, 31173263, 31451895		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24828201, 31113740	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	23599161	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17970049	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17993720, 19876845, 25156079, 34153645, 35008480, 36713456, 37254618	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22429493	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24944491, 26420065, 26540347, 27050147, 27728962, 27894081, 28960757, 30677218, 31127852, 33112555, 34436030, 35236826, 35332266, 35465267, 36147467	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35080329	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	19876845	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21276239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	30978501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	31527246, 34667274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	34593967	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	28262804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	16596179		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25326807, 28182001, 28240746, 28793245, 30397178, 31222373		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	24833089, 26001828, 30823625		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20299530, 21334718, 21931300, 22615765, 23940081, 24126941, 24746758, 24789529, 25955300, 26001828, 26447186, 26780934, 27371094, 28122729, 28259951, 28335793, 28460458, 28750095, 29858603, 30332625, 30332632, 30382588, 30606669, 30867047		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25038052, 26198101, 27489349, 36247876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32998722	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21982273	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31420918	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28106103, 33789601, 33888337, 34911496, 36008402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19801978, 20126410, 20372069, 21460799, 21623236, 22748473, 23451093, 23544055, 23599161, 23620753, 24128716, 24299561, 24346092, 24590290, 24710660, 24736592, 25384882, 26030731, 26464673, 26499463, 27145277, 27775076, 28052061, 28678184, 28719033, 28862264, 29596469, 29866045, 30487219, 30978501, 31444787, 31551362, 31968252, 32644288, 32992230, 36243874, 36357817	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20161759, 24659665, 24966958, 25935536, 35945296	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27438511, 30675221		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	23060301		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23722508, 23867475, 23895273, 25038052, 26159849, 27489349, 27492892, 28165651, 30468460, 31735168		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31618067		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16552336		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	20454695, 31424957		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	20454695, 35148715	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	35148715	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24489842, 25935536, 29777148, 30336948		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25935536		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24489842, 25935536, 28781654, 29777148, 30336948		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	17489843		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25339068		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22937156, 23596255, 25061226, 28714964		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24482053	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	24906237, 30556855		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	27138764		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	18836133		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	28789413		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	28789413		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	36395688	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	40149431	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	29541226		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28566702		★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	28659543	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of optic nerve	Coloboma	Pubtator	19471311	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	BEFREE	20454695		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18027866, 30907312, 31186779		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	37384399	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32428045	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17136346, 18027866, 20726797, 22912670, 23111103, 24658157, 24885288, 25010701, 26845645, 27411517, 29081665, 29228716, 29944017, 29958837, 30518951, 31230592, 31641225, 31810585		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17136346		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22168803, 24885288, 25010701, 25340937, 25906747, 26707141, 27411517, 28710230, 30518951, 31641225, 32144236, 32900990, 33434524, 33445526, 33823840, 34697986, 34833970, 37457497, 37524903, 38044399	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27983919	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30518951		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	20454695, 21712996, 33719903	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	22171155		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	31232700		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	23979878		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20372069		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24906237		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	35864972	Associate	★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	18474784, 18987493, 20454695, 22522080, 23613260, 24859618		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	LHGDN	18474784		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21982273, 29541226, 31420918, 31516388, 31545459		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	28284480		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	23025704, 29371155	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Adenomatoid Malformation of Lung, Congenital	Congenital Cystic Adenomatoid Malformation Of Lung	BEFREE	24669837		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35843019, 36067639	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29409014		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	29623612		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25890498		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10480362, 30450772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	33719903, 36581364	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	21803132		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21547696, 21803132		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20667095	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23306198, 37028179	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20667095		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21803132		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20667095	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20667095		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	31902091	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	24274717		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28339079		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	16529618, 19641633, 20454695		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	32819430, 33220594, 34050678	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	24382260		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	34562068, 36581364	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	23979878		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	23979878	Stimulate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	18987493, 30450772		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28188685, 30510261		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21851624, 26339387, 30510261, 30935961, 35318304, 39888143	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24884521	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20850729, 24884521		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20850729, 24884521	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15240551, 16529618, 28659543		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28659543	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16529618		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	30687547		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25038052, 27489349, 31735168		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	31097100		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	16543359, 16892407, 16932809, 18174732		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24508466, 28862264, 30894683		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22748473, 24508466, 28862264, 35382656	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24508466, 28862264, 30894683		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26001828	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17522144, 19414369, 19801978, 24105929, 26370982, 26464673, 26465158, 28862264, 32662828, 36131361, 36418920, 36717549, 37744275	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25704506	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophagitis	Esotropia	Pubtator	19801978, 27766003	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	27096226		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26969300, 27138764, 31427232		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	31424957		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	17522144, 18285410, 19471311, 19641633, 19921648, 21919124, 29371155	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	19641633, 20454695, 23701296	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	23810832		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	36917862	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26336083	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26339387	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	23089465		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28059963		★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	Pubtator	30587606	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	27789406, 27789412	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	16529618		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	28438190		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	26026081, 27138764		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	31816405		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	20613634	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	BEFREE	20454695		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26318430	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24763828, 25704506		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	27766003	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	27096226, 27766003		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	25704506	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	19396148, 31583686		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	18836133, 29467949		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	18836133		★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	29453128	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18948646, 21211035, 21280222, 21518820, 21703238, 21940738, 22070920, 22098779, 22937156, 23110111, 23324350, 23613880, 23628207, 24274717, 24332177, 24726753, 25200966, 25832504, 26035068, 26074073, 26444992, 26492085, 26573230, 26878385, 26898758, 27530866, 28208648, 28241425, 28380428, 28424427, 28465359, 28656196, 28933914, 28994107, 29467947, 30497369, 30922391, 30980849, 31272074, 31496301, 31534165, 31717924, 31783691		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20383808, 21211035, 22069467, 22937156, 24131927, 24601786, 24726434, 25328136, 25787115, 25832504, 26138445, 26681767, 26983719, 27852622, 28208648, 28424427, 28465359, 28656196, 28677106, 29773872, 29849920, 30158599, 30497369, 31534165, 31956038, 32092088, 32234828, 32439916, 32492707, 33762574, 33924599, 34021259, 34072831, 34282187, 34470582, 34953010, 35701472, 36292985, 36333778, 36980184, 37524903, 37551745, 38267500, 40422249	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18948646, 19468690, 21211035, 21280222, 21703238, 21940738, 22069467, 22070920, 22415968, 22469987, 22937156, 23324350, 23613880, 24274717, 24332177, 24726753, 25200966, 26035068, 26074073, 26444992, 26492085, 26573230, 26878385, 26898758, 27530866, 27791206, 28208648, 28241425, 28380428, 28424427, 28465359, 28559081, 28656196, 28749077, 28933914, 28994107, 29467947, 30497369, 30922391, 30980849, 31269723, 31272074, 31496301, 31534165, 31717924, 31763067, 31783691		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17375044, 20537983, 20824710, 21518820, 21703238, 21987575, 22069467, 22070920, 22184289, 22931209, 24833465, 25416826, 26001828, 26096706, 26239477, 26755664, 27909726, 28096221, 28424427, 28592121, 28620836, 28654819, 29808528, 29955125, 30053878, 30322863, 30403311, 30559479, 30903095, 31267022, 31718604		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17375044, 21211035, 22069467, 24552705, 25328136, 26755664, 27909726, 28620836, 30053878, 30320350, 30403311, 31718604, 32246865, 32507767, 32788236, 34645618, 36231068, 36348001, 37063420, 37614011	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26001828	Stimulate	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	19937755, 24726753		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27862890		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIA	Glycogen storage disease	Pubtator	30269021	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type V	Glycogen storage disease	Pubtator	28925366	Associate	★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	22945632, 24211324, 30587606		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25974262, 29596469, 30275505, 30720113		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29596469, 30275505, 32019273	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33719903	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32191225	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	26516161		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	40009831	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	27816521, 30336948		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	21712996		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	21712996, 33683746, 37384399	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20936902		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	18836133		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	18836133		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	20613634	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	20454695		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	20454695	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	30487219	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	36170598	Associate	★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	30014520		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	18285410, 21326281, 28659543, 29371155	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	24211324		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	17287405, 21326281, 24457197		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	16932809, 17287405, 18285410, 18987493, 22945632, 24457197, 28659543, 29371155, 30587606		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	18174732, 18285410, 21919124, 22945632		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	18285410, 21919124	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	BEFREE	20454695		★☆☆☆☆ Found in Text Mining only
Hypoplasia of spine	Hypoplasia Of Spine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	29371155	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	30450772		★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21712410, 31462898, 37768037	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27489349, 33762574, 36082356	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	20303530, 24487392, 27279579, 28461325		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27862890		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34562068	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35266272	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	38221567	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	28365443, 28833847, 31640140		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	25943891		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30618618		★☆☆☆☆ Found in Text Mining only
Isolated microphthalmia-anophthalmia-coloboma	Isolated Microphthalmia-Anophthalmia-Coloboma	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	17587179, 19623216, 21396578, 24802313		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	31628846	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	25398365		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20667095		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20667095, 22613719	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22031517		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	30445363		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24833089, 26001828, 28122350	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	24700142, 26040764, 26083661		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	27345786, 31017045	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26838251		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26838251, 28718379	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28359056, 28718379	Associate	★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	29335358		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	29938872, 31640140		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24918581, 30668428, 31640140, 31823521		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	27138764		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20549546, 21376027, 22429493, 22732500, 23430442, 24585547, 25339068, 26698646, 27878280, 27925189, 28339084, 29373917, 29731884, 29792038, 30018710, 30483804, 30677218, 30957973, 31118247, 31757938		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35236826	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21376027, 30677218		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35236826	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19801978, 26526583	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24126941		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	19801978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	22615765, 22837720, 23683495, 25686219, 26035432, 26780934, 28259951, 28849055, 28960757, 30674935, 30867047, 33433063, 35059870, 36082356, 36142846, 37524903	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	23940081, 24126941, 24727000, 24746758, 24953650, 30831275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	26001828	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22168803, 24482053, 25686823, 26540632, 28002801	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26464673	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28002801		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29956740	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema distichiasis syndrome	Lymphedema-Distichiasis Syndrome	BEFREE	27346194		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	27911272	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	30726731		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17375044, 22069467, 22070920, 26755664, 31718604		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25974262, 29596469, 30720113		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	27530866, 30089852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21276239, 21573501, 22237177, 22561374, 22800865, 23796710, 23815808, 24107627, 24178749, 24291232, 24297508, 24885403, 25006803, 25223935, 25380620, 25444903, 25684141, 26460550, 26492085, 26683522, 27229858, 28121351, 28244015, 28288641, 28373426, 28602290, 28674712, 28740236, 28835684, 28882595, 28946143, 29044882, 29401647, 29802821, 30250195, 30272330, 30454027, 30464534, 30482236, 30574744, 30622340, 30628646, 30740360, 30759864, 31296961, 31336602, 31462898, 31584203, 31635802, 31844113		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28188685		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21460799, 24508466, 28862264, 30894683		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25704506		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24833089, 26001828, 30823625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23430442, 25339068, 27312708, 31646784		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	19801978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20299530, 21334718, 21931300, 22615765, 23940081, 24126941, 24746758, 24789529, 25955300, 26001828, 26447186, 26780934, 27371094, 28122729, 28259951, 28335793, 28460458, 28750095, 29858603, 30332625, 30332632, 30382588, 30606669, 30867047, 31691184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24918581, 30668428, 31640140, 31823521		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	29677532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23722508, 23867475, 23895273, 26159849, 27492892, 28165651, 29569698, 30468460		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22963768, 25202061, 25444909, 25684468, 29574322, 30365057, 30382189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20303530, 21415100, 22469032, 23089465, 23326489, 24036214, 25310235, 25686823, 26540632, 27816521, 28059767, 28059768, 28335793, 28475401, 29358129, 30100395, 30206982, 30312426, 31772313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	27415467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15910596, 17136346, 19493275, 21304604, 21487519, 23613102, 24325912, 24752338, 25300947, 25543086, 27015119, 27557490, 28046028, 29059156, 29511458, 30198866, 31037832, 31669571, 31822364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25326807, 28182001, 28240746, 28793245, 30397178, 30518951, 31222373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	29396848		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19414369, 20696700, 20726797, 21518820, 21531766, 21975933, 22014056, 22070920, 22237177, 22378186, 22419067, 22429493, 22511756, 22615765, 22800865, 22847005, 22937156, 23024790, 23324350, 23416461, 23544055, 23596255, 23604326, 23613880, 23796710, 23867475, 23895273, 23921511, 23974095, 24023739, 24078401, 24107627, 24126941, 24142425, 24199791, 24489842, 24568610, 24573690, 24700142, 24726753, 24752338, 24833465, 24883329, 25010701, 25061226, 25156079, 25187386, 25202061, 25279549, 25380620, 25495189, 25704506, 25832504, 25916394, 26314854, 26676719, 26744520, 26896855, 26940223, 27029061, 27113741, 27150062, 27176780, 27196761, 27411517, 27492892, 27528232, 27557511, 28017655, 28046028, 28121351, 28151013, 28165651, 28241425, 28260055, 28262804, 28388544, 28454322, 28455240, 28460458, 28504716, 28526577, 28535666, 28602290, 28806395, 28830458, 28833847, 28905448, 28933914, 28960757, 29025375, 29081665, 29102042, 29256636, 29322514, 29432994, 29467896, 29536377, 29596469, 29609590, 29632646, 29703178, 29743593, 29761897, 29777148, 29854282, 29905375, 29958837, 30108202, 30206982, 30287838, 30297536, 30312426, 30315105, 30366514, 30445363, 30451731, 30487219, 30517668, 30518951, 30622340, 30720113, 30823625, 30831275, 30894512, 30894683, 30907312, 31080551, 31243344, 31281487, 31316613, 31344986, 31365524, 31399556, 31412296, 31417271, 31427232, 31466045, 31477842, 31552166, 31634481, 31640140, 31646784, 31669571, 31757938, 31844113		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	24833089, 27150062, 28700423		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24489842, 25935536, 29777148, 30336948		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18027866, 30907312, 31186779		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18456656		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20859678, 25684141		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20515335, 21518820, 22937156, 23596255, 25061226, 28714964		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22937156, 31956038, 32998722	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22899289, 25642713, 25953317, 27373978, 29778085, 30466459, 35737114, 36899895	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24931667, 27373978, 28036292, 28368402, 28368416, 29905375, 30297536, 30809284, 31691184		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	15983380, 29368320, 36232992	Associate	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23979878		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25890498		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31527246		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23886156, 35794237	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28368402, 30626524		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	19254784		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 1	Microphthalmia	ORPHANET_DG	24033328		★☆☆☆☆ Found in Text Mining only
Microphthalmia, Syndromic 3	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	12612584, 16283891, 21326281, 24859618, 29371155, 8741917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Syndromic 3	Syndromic microphthalmia	UNIPROT_DG	12612584, 24033328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Syndromic 3	Syndromic microphthalmia	BEFREE	16543359, 20454695, 20803647, 22171155, 27862890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Syndromic 3	Syndromic microphthalmia	CLINVAR_DG	19921648, 22171155, 24211324, 24498598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Syndromic 3	Syndromic microphthalmia	ORPHANET_DG	24033328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Syndromic 3	Syndromic microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	16892407, 16932809, 17522144, 18285410, 18831064, 19254784, 19397404, 19921648, 20454695, 21203406, 21326281, 23613260, 23701296, 24211324, 24859618, 25542770, 27862890, 29371155, 29461140, 31814023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	17522144, 18285410, 18385794, 18831064, 19921648, 20454695, 21326281, 22204637, 23701296, 28659543, 33719903, 34562068	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos co-occurrent with congenital ocular coloboma	Microphthalmos Co-Occurrent With Congenital Ocular Coloboma	BEFREE	21203406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos, Autosomal Recessive	Microphthalmos	ORPHANET_DG	24033328		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31017045	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35945296	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25722113, 28862264, 30453543, 34092609, 36170598	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28262804, 29555661		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VI	Mucopolysaccharidosis	Pubtator	38006675	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15578584, 15812812, 16145681, 16932809, 17219395, 19921648, 20803647, 27427475		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	28395808		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22190969, 28270494, 33757979, 35414790	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26468228	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28339079		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29335358		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36744877	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	36744877	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	22265745		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	37748332	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	17898260		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	37307755	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20211102, 23424657, 30141114, 32894547, 32971057, 37658588, 37967508	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23604326, 24955581, 29463902, 29556337, 29677532, 30108202, 30583071, 30668347, 31394414, 31646828		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	30403311	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17375044, 18443585, 18948646, 19493275, 19787784, 20042675, 20372069, 20709360, 20875870, 21211035, 21276239, 21323603, 21334718, 21460799, 21518820, 21927024, 21940738, 22014056, 22390279, 22419067, 22529186, 22561374, 22732500, 22806899, 22931209, 23060121, 23085761, 23086772, 23326489, 23334326, 23510069, 23540691, 23544055, 23596255, 23599173, 23613102, 23613489, 23708735, 23722508, 23867475, 23940081, 24036214, 24105929, 24107627, 24126941, 24458840, 24477565, 24632619, 24726753, 24727000, 24736545, 24743512, 24746758, 24752338, 24828201, 24842609, 24885288, 24953650, 25010701, 25077433, 25171789, 25300947, 25340937, 25416826, 25444903, 25467916, 25576924, 25586376, 25704506, 25897700, 25916394, 25935536, 26001828, 26040981, 26083661, 26211876, 26238857, 26343384, 26484567, 26647992, 26780934, 26817999, 26846300, 26878385, 26898758, 26969300, 27107424, 27161333, 27229858, 27371094, 27411517, 27634934, 27816419, 27913042, 28002801, 28046028, 28059767, 28059963, 28191771, 28199128, 28231820, 28260055, 28314267, 28368402, 28368416, 28388544, 28438190, 28443494, 28460458, 28581518, 28636992, 28700423, 28714964, 28781654, 28789413, 28793245, 28794048, 28833847, 28925404, 28994107, 29078734, 29102042, 29143365, 29158813, 29177909, 29180744, 29214774, 29356386, 29523123, 29536377, 29555661, 29596469, 29743593, 29773426, 29955125, 29956740, 30033544, 30121622, 30186173, 30198866, 30248046, 30322398, 30332632, 30382189, 30450772, 30451731, 30464534, 30482236, 30517668, 30574744, 30694767, 30712195, 30719107, 30720113, 30723235, 30831275, 30907312, 31057614, 31115051, 31166600, 31173263, 31191825, 31267022, 31281487, 31284949, 31341493, 31344986, 31358900, 31427232, 31447265, 31451895, 31508790, 31541339, 31548378, 31551362, 31640140, 31646784, 31695499, 31718604		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29335358, 30445363		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23979878		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	23979878	Inhibit	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19458492, 29158813, 29203817, 32092088	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21507930, 22576801, 24632619, 25333857, 26398570, 27996177, 29158813, 29452418		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28516286		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29610440		★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	28368402		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30583071, 30668347		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	30616142		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20161759, 21687954, 23009336, 23086772, 23492369, 24736592, 24842609, 25955300, 26297432, 26780934, 27150062, 27542268, 28456659, 28460458, 30189871, 30288055, 30322398, 31316613		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	24404135		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	21276239		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	24736545		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23144726		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34214899	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26569340, 28244015, 30759864		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21518820		★☆☆☆☆ Found in Text Mining only
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System	Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	29409014	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32144293	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	38509680	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21927024, 22610481, 24384842, 25832504, 26332365, 28260055, 28440454, 28905448, 28934267, 28960757, 29200954, 29305964, 29619662, 29743593, 31605775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	22870217, 25832504, 28260055, 28960757, 36071872, 37957698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	32574564	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23722508, 23867475		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	23874550, 24884521, 27489349	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23895273, 26159849, 27492892, 28165651, 30468460		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22401770, 22642602, 23895273, 24937695, 26159849, 26198101, 27489349, 27492892, 27819360, 30468460, 31610800, 32169072, 35302657, 37087023, 40301365	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26001828	Stimulate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	30206982		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16552336, 22963768, 25202061, 25444909, 25684468, 29574322, 30365057, 30382189		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27145457		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31281487		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26001828, 36232741	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29574322, 30365057	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21716161, 31431834, 31590919, 31693489		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22179105, 38615589	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22673189		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile Diseases	Penile disease	Pubtator	29371155	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	19254784		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Dehydrogenase Deficiency	Phosphoglycerate Dehydrogenase Deficiency	BEFREE	30250195		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	21989351		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	30587606		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28515211		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	21919124, 30450772		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	21919124, 30587606, 36750863	Associate	★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	27984723, 30129215		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	28314379, 31411525		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	28411401, 30587606		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11074522, 20303530, 21415100, 22469032, 23089465, 23326489, 24036214, 25310235, 25686823, 26540632, 27816521, 28059767, 28059768, 28335793, 28475401, 29358129, 30100395, 30206982, 30312426, 31772313		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	20303530, 31358900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22469032, 25686823, 27816521, 28059768, 30806068, 32998722, 35067686, 35908276, 35986103, 37169162	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26540632	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	27415467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32146726	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30287739		★☆☆☆☆ Found in Text Mining only
Rasmussen Syndrome	Rasmussen`s Syndrome	BEFREE	29579552		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19657699, 29214774		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21982273, 31420918, 31516388, 31545459		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	17522144		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23197854, 28677533, 30092450, 34034222	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 33 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25576924, 27229858, 27235706		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	26619025, 27879208, 28076568, 34583623	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	21807996, 38100910	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	27941797	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28923841		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33372065	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	28923841	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25416826, 26121316, 31695499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	26121316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CTD_human_DG	26343384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	26121316, 31427232	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	37193761	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	CTD_human_DG	26343384		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	CTD_human_DG	26343384		★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	BEFREE	20949537		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34969953	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34562068	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	17970049, 17993720, 18348160, 19226408, 19396148, 21975933, 27132888, 27283990, 31130628, 31583686		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	17993720, 27132888, 34153645, 36713456	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	18407919		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	8741917		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	17587179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	LHGDN	17587179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	ORPHANET_DG	17587179, 19623216, 21396578, 24802313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-optic dysplasia spectrum	Septo-Optic Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10760287, 22084397, 22615765, 22941189, 26253517, 28106103, 28602290, 30445363, 31146720, 31446534		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10760287, 15880380, 22941189, 24294370, 31446534, 32130794, 33607458, 34107469, 35641209, 36377249, 36810856	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28106103	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	29773426		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19787784, 19801978, 20126410, 20161759, 20372069, 21334718, 21460799, 21687954, 21931300, 23086772, 23159246, 23416461, 23472872, 23544055, 24590290, 24736592, 24743512, 24833089, 24953650, 25077433, 25858147, 26040981, 27150062, 27490766, 27557511, 28002801, 28314267, 28319578, 28678184, 28700423, 28862264, 29596469, 30190462, 30713093, 30838525, 30981761, 31221127, 31257482, 31399556, 31412252, 31508790		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	19801978		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19414369, 19801978, 20875870, 23510069, 24105929, 24659265, 25704506, 26314854, 26370982, 27399176, 28365443, 28862264, 29262545, 29849506, 30904401, 31529309, 31560173, 31707349, 31789057		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	19801978		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20937145, 22847005, 23451093, 24533098, 24883329, 26001828, 26040764, 26040981, 26464673, 28002801, 28719033, 29374236, 29596469, 29741610, 29956740, 30527240, 31093971, 31508790, 31902091, 32783291, 33510132, 33513805, 34285085, 34435915, 37716475, 38096163	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25379016, 30143678	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31244283	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21460799, 24128716, 24477565, 24525231, 24953650, 25384882, 25994056, 26323639, 26846300, 27728803, 28151013, 28286162, 28719033, 28794006, 29432994, 29596469, 29854282, 30838525, 31209059, 31551362		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	25061226, 25077433, 31284949		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22847005, 23451093, 24743512, 26040981, 26239260, 28002801, 28719033, 29374236, 29769207, 30720113, 31485767		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29956740		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17136346, 19493275, 21036460, 21487519, 23613102, 24325912, 24752338, 25300947, 25543086, 27015119, 27557490, 28046028, 29059156, 29511458, 30198866, 31037832, 31669571, 31822364		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15910596, 18268498		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18268498, 31669571	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18938748, 19520737, 21304604, 21487519, 23229446, 24763828, 25300947, 27015119, 28046028, 28960757, 31037832, 34060205, 37306240, 38012281, 39293524, 40149431	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24325912, 25300947		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23540691, 27138764, 29773426		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28211533		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	19396148, 19723802, 21308744, 23050522, 24487392, 28803914		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	25761220, 33224314	Associate	★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic Neoplasms	CTD_human_DG	26343384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymic Carcinoma	Thymic Carcinoma	BEFREE	31097100		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	31097100		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31693489		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	23301671, 31922212, 34184083	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	27464948	Associate	★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	29732603		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16892407		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28590426, 35711895, 39271768	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29536377, 30186173, 30237308, 30255421, 30574744, 30894512		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	22870217	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25187386, 28566702		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27369080, 27456363, 30518951, 31243344, 32427884, 36045117, 36293387	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	29371155, 34562068	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	22899292	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	31695499		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35945296	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24489842, 26706028, 29777148, 30150594, 31365524, 32286144	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25935536, 30791957	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	28438190		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	33388092	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	32641753	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21518820		★☆☆☆☆ Found in Text Mining only