NLRP3 (NLR family pyrin domain containing 3)

Gene

• Entrez ID: 114548
• Gene name: NLR family pyrin domain containing 3
• Gene symbol: NLRP3
• Synonyms (NCBI Gene): AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1
• Chromosome: 1
• Chromosome location: 1q44
• Summary: This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937896	T>C	Pathogenic	Coding sequence variant, missense variant
rs35829419	C>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs114158404	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs117287351	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs121908146	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908147	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121908148	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908149	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121908150	C>T	Pathogenic	Stop gained, coding sequence variant
rs121908151	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121908152	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121908153	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121908154	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs139814109	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs141389711	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs145268073	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Coding sequence variant, missense variant
rs147946775	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs151344629	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs180177431	T>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs180177441	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs180177442	G>C,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs180177445	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs180177452	A>C,G	Uncertain-significance, not-provided, pathogenic	Intron variant, missense variant, coding sequence variant
rs180177458	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs180177465	A>C,G	Likely-pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs180177484	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs180177493	C>T	Not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200154873	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518827	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524777	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691298	A>C	Pathogenic	Missense variant, coding sequence variant
rs1553287287	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553293095	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016468	hsa-miR-193b-3p	Microarray	20304954
MIRT048559	hsa-miR-100-5p	CLASH	23622248
MIRT735167	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	28302726
MIRT732474	hsa-miR-155-3p	ELISA, Flow cytometry, qRT-PCR, Western blotting	33909229
MIRT734746	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, RNA-seq, ELISA	33628043
MIRT735028	hsa-miR-141-3p	Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, Flow cytometry	32984347
MIRT735167	hsa-miR-223-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	33650318
MIRT735168	hsa-miR-22-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	33650318
MIRT735167	hsa-miR-223-3p	qRT-PCR	32090515
MIRT732474	hsa-miR-155-3p	Western blotting, qRT-PCR, Flow cytometry, ELISA	33909229
MIRT755595	hsa-miR-3653-3p	qRT-PCR, in vitro cullelar assays	37946206
MIRT735167	hsa-miR-223-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37359091
MIRT1187263	hsa-miR-561	CLIP-seq
MIRT1187264	hsa-miR-223	CLIP-seq
MIRT1187265	hsa-miR-4662a-3p	CLIP-seq
MIRT1187266	hsa-miR-4781-5p	CLIP-seq
MIRT1187263	hsa-miR-561	CLIP-seq
MIRT1187267	hsa-miR-633	CLIP-seq
MIRT1187268	hsa-miR-935	CLIP-seq
MIRT1187269	hsa-miR-1283	CLIP-seq
MIRT1187270	hsa-miR-1305	CLIP-seq
MIRT1187271	hsa-miR-4680-3p	CLIP-seq
MIRT2391607	hsa-miR-2355-3p	CLIP-seq
MIRT2391608	hsa-miR-4289	CLIP-seq
MIRT2391609	hsa-miR-4711-3p	CLIP-seq
MIRT2391610	hsa-miR-616	CLIP-seq
MIRT2391611	hsa-miR-626	CLIP-seq
MIRT2391612	hsa-miR-676	CLIP-seq
MIRT2455259	hsa-miR-4679	CLIP-seq
MIRT2455260	hsa-miR-549	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	23229815
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	NAS	22258606
GO:0002376	Process	Immune system process	IEA
GO:0002674	Process	Negative regulation of acute inflammatory response	IMP	11687797
GO:0002830	Process	Positive regulation of type 2 immune response	ISS
GO:0005515	Function	Protein binding	IPI	11786556, 15020601, 15030775, 19158675, 19337385, 22461501, 22801494, 23582325, 23809162, 23871209, 24531343, 24630722, 26347139, 26814970, 28229991, 31189953, 31231549, 31421660, 32814053, 34341353, 34589402, 38593810, 39225180
GO:0005524	Function	ATP binding	IDA	17483456, 36442502
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	34512673
GO:0005737	Component	Cytoplasm	IDA	17164409, 39225180
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	28263976
GO:0005737	Component	Cytoplasm	TAS	15967716
GO:0005739	Component	Mitochondrion	IDA	23582325
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005815	Component	Microtubule organizing center	IDA	28656979, 39173637
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA	11786556
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006915	Process	Apoptotic process	NAS	12032915
GO:0006952	Process	Defense response	TAS	15967716
GO:0006954	Process	Inflammatory response	IDA	16407889, 17483456, 18403674, 18604214
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IMP	12093792, 28847925
GO:0007165	Process	Signal transduction	NAS	11786556
GO:0007231	Process	Osmosensory signaling pathway	NAS	22981536
GO:0009306	Process	Protein secretion	IDA	33883744
GO:0009595	Process	Detection of biotic stimulus	IDA	18604214
GO:0009595	Process	Detection of biotic stimulus	IEA
GO:0009595	Process	Detection of biotic stimulus	TAS	15967716
GO:0009615	Process	Response to virus	IEA
GO:0016020	Component	Membrane	IDA	30487600
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	17483456, 31086327, 31086329
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	1189953
GO:0031021	Component	Interphase microtubule organizing center	ISS
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IMP	12483741
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	15326478
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	15030775, 16407889, 17483456, 18403674, 18604214, 23582325, 25686105, 30487600, 31086327, 31086329, 31189953
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	28847925
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISO
GO:0032741	Process	Positive regulation of interleukin-18 production	IDA	15326478
GO:0032753	Process	Positive regulation of interleukin-4 production	ISS
GO:0035591	Function	Signaling adaptor activity	IDA	27432880, 35114687, 35254907, 35559676
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	14528293
GO:0042802	Function	Identical protein binding	IPI	23582325, 24630722
GO:0042834	Function	Peptidoglycan binding	TAS	15967716
GO:0043531	Function	ADP binding	IDA	35114687, 35254907
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0044546	Process	NLRP3 inflammasome complex assembly	IDA	17483456, 23582325, 25686105, 27043286, 27432880, 28465465, 28656979, 28943315, 30487600, 31189953, 33231615, 34554188, 34615873, 35114687, 35254907, 35559676, 36442502, 39173637
GO:0044546	Process	NLRP3 inflammasome complex assembly	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045630	Process	Positive regulation of T-helper 2 cell differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	12483741, 16531551, 17178985
GO:0050729	Process	Positive regulation of inflammatory response	IDA	15326478, 32109412, 33883744
GO:0050729	Process	Positive regulation of inflammatory response	IDA	25686105, 31086327, 31086329, 31189953, 35114687, 35254907, 35559676
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	NAS	29255148
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	19158675
GO:0051260	Process	Protein homooligomerization	IDA	35114687, 35254907, 35559676, 36442502
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051604	Process	Protein maturation	IDA	15326478, 31189953, 32109412
GO:0051604	Process	Protein maturation	IDA	31189953
GO:0060090	Function	Molecular adaptor activity	IDA	1189953
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	33883744, 36227980
GO:0070269	Process	Pyroptotic inflammatory response	NAS	26611636
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	30487600
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IDA	1919436
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	28847925
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	12483741
GO:0072559	Component	NLRP3 inflammasome complex	IBA
GO:0072559	Component	NLRP3 inflammasome complex	IDA	15030775, 36442502
GO:0072559	Component	NLRP3 inflammasome complex	IEA
GO:0072559	Component	NLRP3 inflammasome complex	IPI	29255148
GO:0098586	Process	Cellular response to virus	IDA	33231615
GO:0140297	Function	DNA-binding transcription factor binding	IBA
GO:0140297	Function	DNA-binding transcription factor binding	ISS
GO:0140299	Function	Molecular sensor activity	IDA	16407889, 18403674, 18604214
GO:0140299	Function	Molecular sensor activity	IEA
GO:0140608	Function	Cysteine-type endopeptidase activator activity	IDA	31189953
GO:0140693	Function	Molecular condensate scaffold activity	IDA	35114687
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	31189953
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IBA
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IDA	14662828
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IPI	15817483
GO:1901981	Function	Phosphatidylinositol phosphate binding	IDA	34554188
GO:2000553	Process	Positive regulation of T-helper 2 cell cytokine production	ISS

Other IDs

• MIM: 606416
• HGNC: 16400
• e!Ensembl: ENSG00000162711

Protein

• UniProt ID: Q96P20
• Protein name: NACHT, LRR and PYD domains-containing protein 3 (EC 3.6.4.-) (Angiotensin/vasopressin receptor AII/AVP-like) (Caterpiller protein 1.1) (CLR1.1) (Cold-induced autoinflammatory syndrome 1 protein) (Cryopyrin) (PYRIN-containing APAF1-like protein 1)
• Protein function: Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis (PubMed:16407889, PubMed:18403674, PubMe
• PDB: 2NAQ, 3QF2, 6NPY, 7ALV, 7PZC, 7PZD, 7VTP, 7ZGU, 8EJ4, 8ERT, 8ETR, 8RI2, 8SWF, 8SWK, 8SXN, 8WSM, 8ZEM, 9DH3, 9GU4, 9MGY, 9MIE, 9MIG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	9 → 85	PAAD/DAPIN/Pyrin domain	Domain
  PF14484	FISNA	140 → 210	Fish-specific NACHT associated domain	Family
  PF05729	NACHT	220 → 389	NACHT domain	Domain
  PF17779	NOD2_WH	464 → 520	NOD2 winged helix domain	Domain
  PF17776	NLRC4_HD2	522 → 645	NLRC4 helical domain HD2	Domain
  PF13516	LRR_6	739 → 762	Leucine Rich repeat	Repeat
  PF13516	LRR_6	796 → 819	Leucine Rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in macrophages (PubMed:33231615, PubMed:34133077). Also expressed in dendritic cells, B- and T-cells (at protein level) (PubMed:11786556, PubMed:17164409). Expressed in LPS-treated granulocytes, but not in resti
• Sequence:

  MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMID
  FNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGL
  LEYLSRISICKMKKDYRKKYRKYVRSRFQCIEDRNARLGESVSLNKRYTRLRLIKEHRSQ
  QEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQGAAGIGKTILARKMM
  LDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFL
  MDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQH
  LLDHPRHVEILGFSEAKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCT
  GLKQQMESGKSLAQTSKTTTAVYVFFLSSLLQPRGGSQEHGLCAHLWGLCSLAADGIWNQ
  KILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTFQEFFAAMYYLLEEEK
  EGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKI
  SQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTR
  MDHMVSSFCIENCHRVESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGL
  VNSHLTSSFCRGLFSVLSTSQSLTELDLSDNSLGDPGMRVLCETLQHPGCNIRRLWLGRC
  GLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHLLCNLKKLWLVSCCLT
  SACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVC
  CSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWD
  LSTLLTSSQSLRKLSLGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALET
  LQEEKPELTVVFEPSW

• Sequence length: 1036

Pathways

KEGG:

Necroptosis
NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Yersinia infection
Influenza A
Coronavirus disease - COVID-19
Lipid and atherosclerosis

Reactome:

Metalloprotease DUBs
The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection

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
Autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs151344629, rs180177431, rs2103111391, rs121908146, rs121908148, rs121908150	RCV002262687 RCV002262697 RCV002262154 RCV002262553 RCV002262555 RCV002262556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arteriovenous malformation	Pathogenic	rs2103083622	RCV003486475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic infantile neurological, cutaneous and articular syndrome	Pathogenic; Likely pathogenic	rs151344629, rs180177503, rs180177469, rs180177452, rs180177470, rs2103174031, rs2103107063, rs121908146, rs121908152, rs121908153, rs121908154, rs28937896	RCV002464107 RCV003152680 RCV002285010 RCV003389316 RCV005016377 RCV002495875 RCV003333804 RCV002476928 RCV000004625 RCV000004626 RCV000004628 RCV000762894	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cryopyrin associated periodic syndrome	Pathogenic; Likely pathogenic	rs151344629, rs180177503, rs180177445, rs180177433, rs180177430, rs180177478, rs180177458, rs104895389, rs180177491, rs180177473, rs180177449, rs180177441, rs121908153, rs180177447, rs180177484, rs180177431, rs180177468, rs180177470, rs180177456, rs180177486, rs2103174031, rs2103112233, rs2103107063, rs180177469, rs121908146, rs121908149, rs121908150, rs28937896, rs2527260044, rs1553286808, rs180177457, rs1662701151, rs1662731815, rs1662713003	RCV000540218 RCV001854466 RCV001854467 RCV001056510 RCV001382397 RCV001382398 RCV000803838 RCV001224375 RCV003593908 RCV002513892 RCV001857409 RCV001857410 RCV005089557 RCV002514492 RCV001854469 RCV001854470 RCV001043402 RCV003593910 RCV001056350 RCV001377285 RCV003594137 RCV002006217 RCV005433192 RCV002651438 RCV000701554 RCV001225906 RCV001067187 RCV000527671 RCV000795773 RCV002881078 RCV002933218 RCV003038211 RCV000796758 RCV001039313 RCV001053828 RCV001202650	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial amyloid nephropathy with urticaria AND deafness	Pathogenic; Likely pathogenic	rs151344629, rs180177435, rs180177452, rs180177470, rs2103174031, rs121908146, rs121908149, rs121908150, rs121908151, rs121908153, rs28937896, rs2527274077	RCV000449533 RCV004720235 RCV004720236 RCV002464108 RCV002495875 RCV002476928 RCV000004621 RCV000004622 RCV000004624 RCV000004627 RCV000762894 RCV003328143	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cold autoinflammatory syndrome 1	Pathogenic; Likely pathogenic	rs151344629, rs180177503, rs180177437, rs180177445, rs180177433, rs180177430, rs180177478, rs180177458, rs104895389, rs180177491, rs180177438, rs180177435, rs180177469, rs180177473, rs180177452, rs180177449, rs104895392, rs180177476, rs180177441, rs121908153, rs180177447, rs180177484, rs180177431, rs180177468, rs180177470, rs180177456, rs2103174031, rs121908146, rs121908148, rs121908149, rs121908150, rs121908151, rs121908152, rs121908154, rs28937896	RCV000084167 RCV000084170 RCV000084174 RCV000084175 RCV000084183 RCV000084184 RCV000084195 RCV000084198 RCV000084203 RCV000084205 RCV000084206 RCV000084214 RCV000084219 RCV000084220 RCV000084221 RCV000084225 RCV000084233 RCV000084234 RCV000084239 RCV000084241 RCV000084242 RCV000084243 RCV000084244 RCV000084247 RCV000084250 RCV000084255 RCV002495875 RCV000004618 RCV000004620 RCV000084171 RCV000004623 RCV000084204 RCV000084210 RCV000084240 RCV000084248 RCV000004629	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fever	Likely pathogenic	rs1057518827	RCV000415027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 34, with or without inflammation	Likely pathogenic; Pathogenic	rs180177452, rs180177470, rs2103174031, rs121908146, rs28937896	RCV003389316 RCV005016377 RCV002495875 RCV002476928 RCV000762894	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratitis fugax hereditaria	Likely pathogenic; Pathogenic	rs180177452, rs180177470, rs2103174031, rs121908146, rs28937896, rs200154873	RCV003389316 RCV005016377 RCV002495875 RCV002476928 RCV000762894 RCV000585887	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NLRP3-related disorder	Likely pathogenic; Pathogenic	rs2103174031, rs28937896	RCV004541995 RCV005406723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pericardial effusion	Likely pathogenic	rs1057518827	RCV000415027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pleural effusion	Likely pathogenic	rs1057518827	RCV000415027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPHYLAXIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASBESTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INFANTILE NEUROLOGICAL, CUTANEOUS, AND ARTICULAR SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CINCA SYNDROME	—	GWAS catalog, HPO, Orphanet GWAS catalog, HPO, Orphanet GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold autoinflammatory syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL COLD URTICARIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long COVID-19	Likely risk allele	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	12355493, 15071491		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	8961255		★☆☆☆☆ Found in Text Mining only
Acne	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	29888470		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	29888470		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	31430634		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	12466375, 14725680		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25946654, 28456882, 29619130		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	2139164		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31428046		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28342645, 28867183, 29215538, 29303910, 29849486, 30093939, 30124598, 30150895, 30425719, 30622955, 30716587, 31437787, 31593700		★☆☆☆☆ Found in Text Mining only
Acute schizophrenia	Schizophrenia	BEFREE	30038496		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17299068, 21940137		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25910707, 28461245		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	28769575		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	7673409		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8494327		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	12466375		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	8194473		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29637855		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31428046		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	27193821		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22698681, 23221073, 24012762, 26427397, 26760997, 27900566, 28004443, 29323137, 29454857, 29712950, 29854843, 30198786, 30739141, 30927257, 31311035, 31578016		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	11553362		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	18402384		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	20384614, 30127914, 31740004		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26939933, 28984607, 30741672, 30902061, 31600880, 32348224, 32824985, 34153352, 34209408, 34828359, 36422510, 36746533, 36835494, 39183433	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32271912, 38599243	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	24144834		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28238167		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	CTD_human_DG	7562510		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	14986481		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10564549, 14986481, 27776263, 28004443, 28273416, 29435463, 29477641, 29634349, 31194989, 8494327, 8604984		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	30486377		★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	20951486	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	11401442		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	8494327		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26200799, 28357805, 28936769, 30439413, 31596526		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30899381		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	22566169		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	30697988		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29187641		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	40481763	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24223742, 31710639, 34627079, 34852350	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31448710		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	31257469	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	36582742	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23547871, 28116820, 30138619		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	34605097	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	8909226		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	31736654		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anthracosis	BEFREE	23110140		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anterior uveitis	Pubtator	23110140	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	16385179		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	16611090, 20368512, 21152964, 22384198, 28655515, 28689067, 28783935, 29107289, 29306965, 29495433, 31386210, 31538678, 31606581		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23413037, 26615966, 34587665	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	16611090, 19486526, 20368512, 21152964, 22384198, 28655515, 28689067, 28783935, 29107289, 29306965, 29495433, 31386210, 31538678, 31606581		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29528779	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	21621776, 25378412, 26941015, 29343179		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31022754		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29151018		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	24223742	Inhibit	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	29528779, 34852350	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20428172, 21451572, 22796220, 23206693, 23305783, 23838163, 25946654, 26178285, 27207962, 27384322, 28040583, 28084571, 28232172, 28260724, 28302726, 28334721, 28345767, 28394319, 28729463, 28992621, 29024030, 29098483, 29122594, 29126031, 29151018, 29331080, 29352570, 29416034, 29466287, 29571893, 29880500, 29937375, 30054020, 30119891, 30146678, 30246263, 30254716, 30354239, 30371306, 30591286, 30761006, 30938884, 31030940, 31100709, 31167564, 31257469, 31284572, 31356542, 31356551, 31429763, 31584530, 31687078, 31727560, 8413656		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	11992256, 28229991	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17178739, 18311798, 18368292, 20177071, 21538043, 26934991, 27974218, 30075804, 30944389, 31181327, 31335445		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	18311798, 35126351, 37854599	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	24006511, 26462562, 29214547, 33677310, 35292055, 36051474, 36299604, 36746533	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	18576390	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33300400	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15498798, 24551036, 24967817, 26095630, 30911117, 31600880, 34596590, 35126351, 36532040, 37386795	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26385789, 34596590	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	19805629, 23588528, 26662437, 28197935, 28394398, 29214547, 30370562, 30592318, 30612459, 30637441, 31336157		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29193391		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	27974218		★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	CTD_human_DG	24142982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	28351056, 28931055, 29403357		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24136334, 36595748, 37271320, 37486694, 38367422, 39270557	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26214524, 28252317, 28356505, 28448991, 29160418, 29311942, 29545090, 30021766, 30422895, 30736433, 31070765, 31590215		★☆☆☆☆ Found in Text Mining only
Asthma, Aspirin-Induced	Asthma	BEFREE	19767079		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20428172, 21451572, 22796220, 23206693, 23305783, 23838163, 25946654, 26178285, 27207962, 27384322, 28040583, 28084571, 28232172, 28260724, 28302726, 28334721, 28345767, 28394319, 28729463, 28992621, 29024030, 29098483, 29122594, 29126031, 29151018, 29331080, 29352570, 29416034, 29466287, 29571893, 29880500, 29937375, 30054020, 30119891, 30146678, 30246263, 30254716, 30354239, 30371306, 30591286, 30761006, 30938884, 31030940, 31100709, 31167564, 31257469, 31284572, 31356542, 31356551, 31429763, 31584530, 31687078, 31727560, 8413656		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24006511, 24776598, 27207962, 28135700, 29850543, 31600880, 32003754, 33323459, 33748830, 34312415, 34368883, 35008765, 36284323, 36411700, 36517180, 36582742, 36733418, 39978305	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	26930272	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29802206, 30150941, 30564139, 30930414, 31375968, 31530276, 31579995, 31625260		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20166940		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	27919364, 28323660		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23413037, 29309996, 39481220	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	16520824, 21150165, 24462936, 27974283, 28258508, 28283809, 28551755, 28808521, 29487501, 29720452, 31043522, 31214061		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	14972085, 15098001, 16520824, 18655900, 20166940, 28258508, 28808521, 29468985, 30152888, 31214061, 31331023		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24086383	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	8570775		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29145157		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20370570, 20574004, 22128899, 25625584, 28177948, 28263786, 28458619, 29039567, 29072876, 29729449, 30140708, 30236770, 30349539, 30666624, 30894604, 30915320, 31002919, 31118894, 31181327, 31419475		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20370570, 30140708, 30894604, 34790822, 35218237, 35514993, 35528000, 36835594	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	14630794, 15030775, 16037825, 16081838, 17393462, 17431422, 17442855, 19098911, 19120479, 20131254, 22512814, 23226210, 26931528, 27187378, 30175395, 30388107, 30556770		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	29366613		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	22257050	Associate	★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	30486377		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29072703		★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	28273882, 30280897		★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	28457803, 31254367, 31256952		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17213252, 23211828, 23633568, 26833430, 31183983, 31839779		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	24135410, 30808881, 31471397, 35022530	Associate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	28273882, 30280897		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	24012103		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28457001, 29102659, 30575805		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30575805	Stimulate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	35920179	Associate	★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	28592436, 28984997, 30353742		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27718498, 28668843, 29381398		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	29383704	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	38270300	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	31819033		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	8659684		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	30909283		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	35246004	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	34866334	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28261287		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16331351, 16954438, 17295732, 17914245, 20350778, 22652248, 29131546, 30747211, 31558756, 9148862		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	39214479	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16331351, 33096896, 36417489, 36460880, 36902278, 37762557, 37800794, 38031068, 39214479	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36746533	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	31185753		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	30657193		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	26611836, 31360100		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	31360100	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	28273882, 30280897		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	7601573		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	34630405	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35339998, 36610524, 36892058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30015880, 33212483, 38031068	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	7847616		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24166187, 26006022, 27086812, 35242200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36763290	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27718498, 28668843, 29381398		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	9050916		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12367788, 20935451, 23285246, 30365491, 30696442, 30698909, 31561077, 8380126		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38018872, 39969214	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32303673, 32313131, 36919662	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	9357056	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37805058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28120514		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29914696, 30150941, 31689135		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30044791, 37238718	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	23413037	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23382313, 28790925, 28992627, 29993180, 30942391, 31014675, 31182921, 31338905, 31422095		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18782342, 22363810, 25625584, 27225830, 27768229, 27775435, 28064010, 28424274, 28546421, 29150317, 29224086, 29245937, 29295870, 29556787, 29850631, 29925066, 30011137, 30254716, 30571177, 30591319, 31035998, 31337966, 31354731, 31356542, 31365096, 31384532, 31839779, 9789116		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27110561, 33117348, 33748830, 36012132, 36582742	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	29151018, 32927275, 34312415	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	26381780, 29151018, 29176764		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	35008765	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31805556		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	25252899, 31482943		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	20370570, 21245836, 23658628, 27060062		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	20370570	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	10085151, 10766399, 14510916, 14673472, 14678298, 15356057, 15644573, 16006166, 16060916, 16444918, 16682840, 17451074, 18494865, 1881550, 20374732, 20520956, 21498630, 22168581, 22307687, 22433947, 22524462, 22695750, 25740874, 26208472, 26233932, 263336, 26565711, 27075406, 27513365, 28476225, 28494452, 28593907, 28716309, 28967192, 29081004, 29367474, 29422070, 29681579, 30184461, 30269342, 30677238, 30929071, 31142487, 31316622, 31401632, 31484187, 31748430, 31785344, 3341651, 7541187, 8964580, 9265683		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	UNIPROT_DG	10369876, 10487710, 10677561, 11017955, 11150885, 11161827, 11443218, 11748489, 11980620, 12012274, 12107248, 12359138, 12519420, 12931042, 14510916, 14673472, 15538939, 1740104, 7714110, 8045958, 8103767, 8370682, 8514868, 8554046, 9360520, 9580132, 9814475		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	LHGDN	11980620, 12012274, 12107248, 12359138, 18807739		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	ORPHANET_DG	14673472		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	CTD_human_DG	7057320		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	35807435	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	8659684		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26689701, 29850543, 34866334, 35403328, 35451420, 35862251, 37983626	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27576327, 28956063, 29175152, 29802529, 30628668, 31247210, 31830477		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35293591	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24613720, 26178285, 27576327, 27904159, 28274860, 28555260, 28752408, 28845746, 29074065, 29654318, 29662437, 29853850, 30113480, 30194934, 30402171, 30592254, 30601069, 30818045, 31009361, 31216943, 31387626		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30233319		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	31057540	Stimulate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31428046		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25160604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	21163545, 28380370, 28380377, 29886157, 30277564, 30802677		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	28552021		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	32396255	Associate	★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	27993998, 31787755		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	15498798, 35563697, 38172822	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	27873163		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	12032915, 12371636, 12483741, 12520003, 12673085, 14630794, 14752334, 14872505, 15231984, 15300846, 15476236, 15801036, 16255047, 16279571, 16449034, 16532456, 16802372, 16899778, 17284928, 17393462, 17431422, 18080732, 18368292, 19931168, 21538043, 21702021, 22279087, 22723549, 23226210, 24326009, 24431285, 25302486, 26140469, 27788288, 28687790, 28957823, 30066283, 30388107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	GENOMICS_ENGLAND_DG	12032915, 29366613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	UNIPROT_DG	12032915, 12483741, 14630794, 15231984, 15334500, 15593220, 24952504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	CTD_human_DG	12032915, 12928894, 25217959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	ORPHANET_DG	12032915, 15801036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27093923, 27538510, 28057871, 28558715, 28714397, 30348002		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20688930, 25059664, 28038382, 28280053, 28348462, 28403013, 28578535, 28628921, 28714397, 28787716, 28884615, 29169180, 29241624, 29371912, 29471407, 29511302, 29572679, 29665969, 29793629, 29925066, 29925069, 29997293, 30483252, 30564139, 30587058, 30890453, 30922667, 31002427, 31172209, 31187425, 31276670, 31365096, 31399976, 31412804		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	29312290		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27221966		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28252317, 29990691, 30102962, 31112544		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	19664151, 26854620, 28691886, 30422379		★☆☆☆☆ Found in Text Mining only
CINCA syndrome	CINCA Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	BEFREE	11966948, 17954951, 29268760, 29593800, 30236988, 7904979		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31616061		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	23209411, 28202418, 29257276, 30233319, 30716395		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26818951, 30276509		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32824985	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32824985	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20385749, 23075874, 23506741, 26588861, 26848183, 27014752, 27105502, 27966619, 27993998, 28152446, 28155620, 28368613, 28380426, 28487310, 28740109, 28750357, 29296531, 29416724, 29576052, 30012462, 30071202, 30206651, 30218953, 30297787, 30315268, 30396035, 30496979, 30530166, 30554117, 30662948, 30790702, 30823406, 30901677, 30936012, 31026586, 31152156, 31177914, 31351364		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30583612, 33793617, 37962000, 39534992	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11470825, 16007183, 30444664		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36127676	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21940137, 22843550, 23149980, 24740681, 29296531, 30206651, 30392787, 30823406, 31757663		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22843550, 26689701, 33092247	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26378020	Inhibit	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30911280		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	6646015		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of nose	Congenital Anomaly Of Nose	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16949064, 30101125		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28137395, 30460574		★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	10477148, 11793119, 14972085, 15249704, 17550212, 17941907, 18489790, 18653713, 19449677, 19461158, 19812297, 20814834, 22144672, 26974133, 29991464, 30784238, 7913579, 7933835, 7993996, 8251344, 8401502, 8766937, 8929875, 9402087		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	BEFREE	29309081		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10027817, 10747352, 17954951, 25205804, 27523461, 27768229, 27862165, 28115852, 28212715, 28244638, 28491088, 28714397, 28715068, 28787716, 28861159, 28982590, 29100503, 29143812, 29471939, 29490639, 29572679, 29969536, 30058349, 30159587, 30217427, 30278578, 30309264, 30450925, 30460574, 30591319, 30904236, 31153818, 31365096, 31515529, 31530276, 31645268		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	18179782		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	1352575, 16449345		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	7700015		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28759873, 30770793		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	34740632	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal ulcer	Pubtator	23750216	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20671522, 23685282, 24422572, 25946654, 27110561, 27446957, 28787716, 28992621, 29079359, 30747785, 31354731, 3145239, 31639433		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17289126, 20671522, 23685282, 24422572, 27110561, 28787716, 28992621, 29079359, 3145239, 31639433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	27110561, 27446957, 32039564, 33748830, 35452290, 36919662	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	24244322, 31257469	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20671522, 20700531, 23685282, 24422572, 27110561, 28787716, 28992621, 29079359, 30460574, 31257469, 3145239, 31639433		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	27110561		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	27110561	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Vasospasm	Coronary vasospasm	Pubtator	30057184	Associate	★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	26521790		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	35022530	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	14752334, 15071491, 17435760, 19001869, 19098911, 19319132, 19784369, 20079456, 20182451, 20403135, 21248762, 21560198, 23171454, 24581881, 25297810, 27993998, 28139755, 28523573, 28740109, 29408806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	LHGDN	19001869, 19098911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	19098911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	19098911, 19784369, 29408806, 34344313, 35190924, 36685554, 39181275	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	30583612	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	19098911		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	19098911		★☆☆☆☆ Found in Text Mining only
Cruveilhier-Baumgarten Syndrome	Cruveilhier-Baumgarten Syndrome	CTD_human_DG	6696534		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	BEFREE	30214525		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	CLINVAR_DG	11687797, 11992256, 12522564, 15020601, 15801036, 16081838, 16100350, 17178739, 20472245, 21356079, 22193915, 23442610, 24517500, 25596455, 25730877, 26245507, 26531310, 26931528, 27134254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	CTD_human_DG	12032915, 12928894, 25217959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	15593220, 16724804, 17088647, 17178739, 17213252, 17393462, 17509468, 18063752, 18080732, 18347298, 18368292, 18719602, 18727492, 19180500, 19364881, 20131254, 20131270, 20140476, 20179416, 20506209, 21109514, 21637346, 22193915, 22335455, 22935299, 23143333, 23305783, 23421920, 23703389, 24084736, 24144430, 24326009, 24431285, 24501247, 24517500, 24773462, 24952504, 25038238, 25050926, 25217959, 25596455, 25730877, 25883259, 25917098, 25988971, 26140469, 26161132, 27036377, 27134254, 27273849, 27351923, 27548431, 28148962, 28586272, 28686751, 28692792, 28847925, 28916543, 29021150, 29040788, 29130929, 29130931, 29148409, 29196621, 29610014, 29951964, 30338413, 30352992, 30388107, 30418111, 31077002, 31172726, 31185077, 31194989, 31284572, 31525186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	BEFREE	12466375		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	20214085, 25022529		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	25648527, 26972847, 31454256, 31532390, 31736654		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31532390, 31770592, 33848452	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	32118580	Stimulate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	27965898, 931428	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	Deafness	UNIPROT_DG	28847925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	Deafness	GENOMICS_ENGLAND_DG	29366613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	BEFREE	31461138		★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	17213252, 20179743, 26299986, 30560109, 30686513		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15498798, 19824913, 22933232, 28659793, 29028430, 30277570, 30847744, 31119302, 31407595, 31500508, 31511005, 31545916		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16642435		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	27951472, 31413130		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	26946964		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30741672		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	LHGDN	15624761		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28787716, 29333438		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	36287083	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	11448372, 16499879, 19500216, 20339319, 20368512, 28093255, 28167369, 28213267, 28294453, 28460353, 28486969, 28608287, 28783935, 29016824, 29084550, 29212498, 29267966, 29434743, 30610610, 31353549, 31439031, 31518574, 31538678		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34587665	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	24894535, 28096316, 28266737, 30281174, 31203155		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20370570, 24894535, 29235163, 31737789		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30936015		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20671522, 20700531, 23647015, 27049477, 27513365, 27783111, 27942750, 28216285, 28289409, 28943355, 29084550, 29098483, 29224086, 29235050, 29264825, 29331080, 29515457, 29849583, 29853850, 29901140, 30016155, 30054020, 30071874, 30093939, 30098377, 30107367, 30307163, 30496706, 30534570, 30818045, 31146750, 31166619, 31174550, 31337966, 31356551, 31584530, 31647995, 31736762, 31809715, 31817997, 31835423		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	26273672	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517, 33395071, 38029485, 38326276	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	11244294, 14673472, 15209516, 16475950, 17941907, 18494865, 21727914, 22474537, 27565746, 27967227, 28476225, 28593907, 28920918, 29229338, 29463074, 29886132, 29991464, 3070044, 30988011, 31004513, 31067508, 31160697, 31238300, 31303316, 31368050, 31395885, 31630706, 6498676, 7541187, 8045948, 8370681, 8534287, 9396613		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	LHGDN	12364435		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	ORPHANET_DG	14673472		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	CTD_human_DG	15169711, 6945054		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	31238300, 34319541, 35137152, 931428	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	16502494, 18489790, 19170711, 19461158, 19488606, 19812297, 22474537, 7527400, 8514744	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	10085151, 11603568, 15644573, 1840604, 19170711, 27075406, 28413003, 31238300, 34319541, 34544934, 8514868, 8554046, 9109434, 9745855	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20671522, 20700531, 23647015, 26503846, 27049477, 27513365, 27783111, 27940301, 27942750, 28164132, 28216285, 28289409, 28708885, 28714397, 28943355, 29084550, 29098483, 29151018, 29212780, 29224086, 29235050, 29242971, 29264825, 29331080, 29515457, 29849583, 29853850, 29901140, 30016155, 30054020, 30071874, 30093939, 30098377, 30107367, 30307163, 30496706, 30524286, 30534570, 30818045, 31146750, 31166619, 31174550, 31337966, 31356551, 31461386, 31584530, 31647995, 31656992, 31700865, 31736762, 31738318, 31809715, 31817997, 31835423		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26503846, 28164132, 28854426, 30057184, 31919284, 33323459, 36378718, 931428	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27928437	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20370570, 35528000, 36099092	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23086037	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24006511, 24584061, 26095630, 26273672, 26782387, 27049477, 27731349, 29151018, 31551515, 31600880, 32271912, 32824985, 35022530, 37582564, 37914804	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20370570, 25788762, 26305961, 27979439, 28289409, 28783585, 30026043, 31433534, 31582427, 31816431, 31835423		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19805629, 20835230, 23086037, 23294928, 23305783, 23843215, 23973727, 24584061, 25175736, 25625584, 25651569, 26095630, 26273672, 26782387, 26987023, 27049477, 27918955, 27940301, 28105731, 28302726, 28403013, 28447181, 28578535, 28631886, 28703484, 28787716, 28970837, 29021150, 29096724, 29129820, 29150317, 29151018, 29202274, 29230270, 29235050, 29256638, 29466287, 29478918, 29508169, 29531021, 29665969, 29925066, 30014749, 30026043, 30027433, 30071874, 30113480, 30309264, 30334404, 30422379, 30460574, 30704457, 30971430, 31035998, 31038962, 31190157, 31200447, 31240613, 31302140, 31327049, 31420721, 31432628, 31541678, 31554824, 31562496, 31582427, 31817997, 31835423		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	33323459	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28447181, 28790925, 28992627, 29314607, 30942391, 31014675, 31182921, 31338905, 31422095		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	33323459	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	28631886, 33164551	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25651569, 27358275, 27706238, 28057871, 28151474, 28194406, 28631886, 28708885, 28726774, 28798291, 29475133, 29508169, 29519318, 29675433, 29682805, 29929501, 30071874, 30086405, 30098377, 30119203, 30307163, 30534570, 30571313, 30785016, 31485193, 31703838, 31768838		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	27785530, 27940301, 28271611, 28465656, 28726778, 29264825, 29434227, 29450537, 30142638, 30606939, 31199706		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28726778, 33156339, 36430950, 37713847	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	35081536	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	28692792, 31554417, 31731792		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29970240		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33479353, 34400791	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	25701684, 25962072, 28238526, 31731792		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	25962072	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	7904979		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30338413, 3070044		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	37024673	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysthymic Disorder	Dysthymic Disorder	BEFREE	10889527		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	30924075, 31138298		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20370570, 24894535, 29235163, 31737789		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	30813952	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	8490186	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22003197, 23173742, 26119225, 31020518		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	24330827	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	31199758		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	29088071		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31695408		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33395071, 36233009	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36469254	Stimulate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28194433		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	30858838		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30062967		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	38447234	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	BEFREE	28687790		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	29450537		★☆☆☆☆ Found in Text Mining only
Episcleritis	Episcleritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28448991, 28455745, 28614813, 30870430		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19184326, 19452585, 23134050		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19184326, 19452585, 23134050		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32323780, 35435776, 40295580	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32323780	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16868559, 3586502		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	17646489, 37854599	Associate	★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	23278971	Associate	★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	BEFREE	31123394		★☆☆☆☆ Found in Text Mining only
Familial Cold Autoinflammatory Syndrome 1	Cold Autoinflammatory Syndrome	UNIPROT_DG	11687797, 11992256, 12355493, 12522564, 15593220, 17284928, 24952504		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 1	Cold Autoinflammatory Syndrome	CTD_human_DG	12032915, 12928894, 25217959		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 1	Cold Autoinflammatory Syndrome	GENOMICS_ENGLAND_DG	12032915, 29366613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 1	Cold Autoinflammatory Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cold urticaria	Cold urticaria	ORPHANET_DG	11687797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold urticaria	Cold urticaria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold urticaria	Cold urticaria	BEFREE	11992256, 12032915, 12355493, 12371636, 12483741, 12520003, 12522564, 12602672, 14630794, 14688236, 14752334, 14872505, 15245511, 15541451, 15593220, 15801036, 16081838, 17164343, 17284928, 17320940, 17393462, 17927785, 18174231, 18368292, 18668591, 26140469, 27134254, 28957823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold urticaria	Cold urticaria	CTD_human_DG	12032915, 12928894, 25217959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	17195238, 26123310, 26161132, 30568124, 39684669	Associate	★☆☆☆☆ Found in Text Mining only
Farber Lipogranulomatosis	Farber disease	BEFREE	31647995		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27401397	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24861026, 28905319, 31162673, 31230225		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	36376416, 39179677	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22753171, 26937962, 28189916, 28499273, 28615649, 28730512, 29270247, 29718361, 30103942, 30266645, 30387131, 30700851, 31035998, 31585800, 31593687, 31599445		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30605489, 30947016		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	28930866		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19359429, 24861026, 27445100, 27502441, 27940204, 28564720, 29929367, 30180270, 30802677, 31570558		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	24462936		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37268663	Associate	★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	29277561, 30455347, 30825154		★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	3070044		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33907835	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	28194370		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	8490186	Associate	★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	23221073, 28147216		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	31115771		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	19664151, 27665233		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29171506		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	37940950	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19391220		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25054228, 34433903, 35807435	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29769161, 30015880	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30015880, 30218403		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	9773787		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	17519558, 26160272		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	26160272	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	27093923	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	26160272, 28052869, 28404641, 30098377		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	25938942	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	25977218		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	27607416	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	30739141		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	24456929, 26462562, 26722603, 30761138, 34643941	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	29026154	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28537251, 29026154, 30053645, 31533918		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37854599	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	29394934		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30816294		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	14693654, 22500060, 28430665		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28430665	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22146561, 23440695, 29342053, 35720340	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	12355493, 16531551, 23440695, 29342053	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	10639182, 29176403, 29850631, 30112047, 30216298, 31020367, 31092335		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10027817, 10747352, 25205804, 27523461, 27768229, 27862165, 28115852, 28212715, 28244638, 28491088, 28714397, 28715068, 28787716, 28861159, 28982590, 29100503, 29143812, 29471939, 29490639, 29572679, 29969536, 30058349, 30159587, 30217427, 30278578, 30309264, 30450925, 30460574, 30591319, 30904236, 31365096, 31515529, 31645268		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17954951, 26711465, 36733418	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	18179782		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	18179782		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	37350394	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	31428046		★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	36517180	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	25798846	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoids	BEFREE	21940137		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	29216295		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	25149528	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30627556	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23633957, 36376416	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	34840527	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	29026154	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10704613		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	15071491, 17714972, 19106604		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hereditary central diabetes insipidus	Hereditary central diabetes insipidus	Orphanet			★☆☆☆☆ Found in Text Mining only
Hernia of abdominal wall	Hernia Of Abdominal Wall	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	28656364, 31454821, 31688984		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17885671	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19001869		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	19001869		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	23288978, 31244842	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	25798846	Stimulate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	30716495		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	7700015	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24585268, 28633109, 29896426		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26095630, 27049477, 27783111, 28790925, 28938395, 29212780, 29434227, 30385134, 31485193, 31625631, 31647995, 31816431		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	27049477, 33096896	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	33396676	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28394319, 28404641, 31266025, 31337966		★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	11014353, 17950649, 30418111, 30560109		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27125294, 31164724		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31337966		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	29241624		★☆☆☆☆ Found in Text Mining only
Hypersexuality state	Hypersexuality	BEFREE	16403186		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24375010	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26689701, 35008765, 35022530, 36051474	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	1575943, 16172427, 19106604, 26200092, 27775435, 28659507, 28667055, 28787716, 28981106, 29115459, 29190613, 29224086, 29262411, 29575630, 29985655, 30011137, 30071874, 30091406, 30357309, 30359991, 30449127, 30906225, 31300598, 31555795, 31834836, 7700015, 9815152		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	1663982, 19133994, 3346065, 4040330, 6367368		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	27768229		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	27768229		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	25651569, 27507200, 29359786, 29740155, 30824640, 30913372, 31059009, 31362244, 31790902		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	35714832	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	36051474	Associate	★☆☆☆☆ Found in Text Mining only
Hypoadiponectinemia	Hypoadiponectinemia	BEFREE	28216285		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	30054450		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	25200793		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	27049477	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	29595045, 8909226		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27484454		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25185259, 27058421, 30415294, 31770592, 34605097, 34850961, 36928344, 39343901	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31551515, 37175608	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28931055, 29394934, 30030129		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	27829122		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28646872, 30863307		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21792841, 26418144, 29258746		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26743485, 33968032, 34220810	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	27093923, 28057871, 28081165, 28097088, 28117341, 31465776, 31796125		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	19098911		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23506741, 23770116, 29558930, 30315987, 31152156		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33395071, 36250618, 39818117	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26306997, 30140708		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29722336		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26818951, 28270571, 28532818, 28787716, 29304864, 30217141, 30217191, 30276509, 30524286, 30544722, 30560481, 30676698, 30818045, 31030091, 31214061		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20182451, 21248762, 23075874, 23506741, 23651166, 24740681, 25607115, 27105502, 27993998, 28017802, 28139755, 28152446, 28155620, 28179906, 28410442, 28523573, 28629999, 28787716, 28938606, 29296531, 29515025, 29576052, 29854830, 30297787, 30455704, 30559669, 30873162, 30901677, 30937839, 31152156, 31543674, 31609412, 31666566, 31787755, 31840596		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34093533, 35190924, 37681916, 39826354	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	24894535, 28266737, 30281174, 31203155		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27049477, 30627556, 35226250, 37047241	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	16920754		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21702021	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25284686, 30592131, 33111436, 34412584, 35887297, 37325631	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27146654, 28224704, 29649568, 31351174		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32546974	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	27146654	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	21940137, 26349656, 29393276		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36248807, 37752552	Associate	★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	30389578		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	26758448		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	23075874		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24613720, 26689701, 27576327, 27904159, 28274860, 28555260, 28845746, 29637447, 29850543, 29853850, 30011137, 30195027, 30217427, 30280193, 30402171, 30875611, 30940045, 31002919, 31174550, 31216943, 31630623		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	36072631	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15071491, 18576390, 22193915, 24295199, 25920454		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	31270454		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	32059980, 40057011	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis Fugax Hereditaria	Keratitis Fugax Hereditaria	CLINVAR_DG	29366613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratitis Fugax Hereditaria	Keratitis Fugax Hereditaria	UNIPROT_DG	29366613		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratitis Fugax Hereditaria	Keratitis	Pubtator	29366613, 32059980, 34740632, 40057011	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratitis Herpetic	Herpetic keratitis	Pubtator	40057011	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	25962072		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30614043		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20688930, 23843215, 24890433, 27093923, 27819323, 28821730, 29212780, 29471407, 29913457, 29925066, 29929501, 30169827, 30337286, 30922667, 31164720, 31191310, 31474993, 31616439, 31790902, 31796125, 31809666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	26005910, 26160272, 27093923, 27819323, 29151018, 30980521	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	29572679, 29974524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	27093923, 38401089	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11793101, 27590891, 27721494, 28161696, 28770954, 28854431, 28918467, 29065123, 30483252, 31037316, 31229841, 31545401		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	2139164		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27093923, 27538510, 28057871, 28558715, 28714397		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26323359, 31312615, 31351424		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29969536		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	18179782		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25938942, 37350394	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36428148, 39875995	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	38118408	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29344132		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	26902715		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22662130		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	28526339		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16737450, 21166830, 24166187, 26163595, 28011505, 28027970, 29467847, 30133699, 30228113, 30940293		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11966948, 17454860, 17954951, 29268760, 29593800, 30236988, 7904979		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	26773180, 35138513, 39179677	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35634294	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	20171022, 7557863		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26273672, 26698881, 32271912, 35806450, 36376416	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	26773180	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29277561, 30911280, 31557760		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34551597, 36376416, 37616215	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	30911280	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	30031824, 30528233, 30911280		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16737450, 21166830		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	20671522, 24142982, 26418144, 28126413, 29676014, 30657193, 31467293		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24142982, 26743485	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	16802372, 24142982, 34220810, 37854599	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12403649		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12403649, 2991279, 32576183, 36349316, 36969247, 37156816, 8293425	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28039299		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	35356994	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23315075, 30009530, 32871918, 35356994, 37072752	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28039299		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22235789, 24992143, 28039299, 29874961, 30202244, 31110478, 31608507		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24992143, 28544564, 28791390, 29874961, 30146016, 30388519, 30791224, 31023362, 31133359, 31311094, 31694740		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	31186034	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36610524	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28039299		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34636069	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36541912	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29312552, 29551295		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17885671	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28503820		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28503820		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	28619276		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23221073, 26565031, 29854843	Associate	★☆☆☆☆ Found in Text Mining only
Majeed syndrome	Majeed Syndrome	BEFREE	29912021		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15261710, 19500216, 28263786, 28465217, 29468985, 29902514, 31515707		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	16499879		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	28588189		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	14693654, 22500060, 28430665		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23010873, 26689911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12810634, 16331351, 16954438, 17295732, 17914245, 20350778, 22652248, 29131546, 30747211, 31558756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31695408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18254707, 19184326, 19452585, 23134050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28759873, 30770793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	9050916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24166187		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12367788, 20935451, 23285246, 30365491, 30696442, 30698909, 31561077, 8380126		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22662130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19068087, 28769575, 29386037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17440964, 28870918		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	23010873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29059152, 29552190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27718498, 28668843, 29381398		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18505683, 19185835, 19861527, 20385749, 21401890, 21437268, 27193821, 27718498, 28251822, 28753473, 28865486, 29075366, 29076433, 29097263, 29150317, 29312552, 29386037, 29416724, 30447690, 30747211, 30761140, 30940293, 31118894, 31562689, 31794422, 31849516, 7819586, 7847616		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30444664		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	26658898, 27637169, 29637855		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	26855046	Associate	★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	24326009, 28229991		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22524199, 30078841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	34747716, 36417489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33212483, 36707938, 38052629	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30991182		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	11553362		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	LHGDN	17927668		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	27930444, 28374851		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11448372, 16499879, 19500216, 20339319, 28093255, 28167369, 28213267, 28294453, 28460353, 28486969, 28608287, 28783935, 29016824, 29084550, 29212498, 29267966, 29434743, 30610610, 31353549, 31439031, 31518574, 31538678		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28263786, 29016824, 29054552, 29902514		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16920754		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23010873		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23843215, 24013717, 25651569, 28282788, 28427559, 28526339, 28942141, 29079203, 29339210, 29358279, 29381398, 29437575, 29868015, 29974524, 30349539, 30666624, 30746697, 31200447, 31401632, 31603987		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	24013717, 27049477, 33395071, 35806450	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27928437	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23843215, 26582949, 27600432, 28403789, 28526339, 28714397, 28787716, 29235050, 31035998, 31335445, 31603987		★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	16304362	Associate	★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	20179743	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30199767	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28497569, 28605258, 28880380, 28994319, 30082217, 31062349		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17164343, 25798846, 31723016, 34216617, 35712242, 36647737	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38029485	Stimulate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15094789, 26013422, 28794421, 30121550		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	33434563	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	38172822	Associate	★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	11014353, 11992256, 12032915, 12355493, 12483741, 12520003, 12615073, 12930324, 14630794, 14688236, 14872505, 15030775, 16279571, 17178739, 17284928, 17393462, 17431422, 17486372, 17763411, 17927785, 17950649, 18084703, 18174231, 18311804, 19180500, 21360513, 22146561, 22512814, 23440695, 24326009, 25766347, 27435956, 28028683, 28216434, 28229991, 30338413		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	UNIPROT_DG	11687797, 11992256, 12355493, 15593220, 24952504		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	ORPHANET_DG	11687797		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	CTD_human_DG	11687797, 12032915, 12928894, 25217959		★☆☆☆☆ Found in Text Mining only
Muckle-Wells syndrome	Muckle-Wells Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	GENOMICS_ENGLAND_DG	29366613, 31057541		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	27694492, 31611559, 31836541		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34193364, 37773705	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26146985, 30211233, 39268982	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30211233		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20574004, 22768094, 25586466, 27997058, 28653829, 28764573, 28796840, 28830026, 28965161, 29117789, 29789522, 30264444, 30320900, 30658261, 30666624, 31200447, 31471462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	22768094, 25586466, 29780394, 32563262, 33766068, 35648256, 36973075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	25458313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	29780394	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	25458313		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	25586466		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29558930, 31306657		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	30101125		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27737891, 28596252, 29025689, 30072146, 30101125, 31268627		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30072146, 34183647, 36835307	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29097263		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	12145768		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	18179782		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	21766239, 21915168, 26273672, 27207962, 27864235, 27967213, 28118730, 31257469, 35886020, 36582742	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23206693, 23685282, 25946654, 26273672, 27207962, 27432019, 27847253, 28073832, 28470940, 28714397, 28944892, 29737180, 29750698, 29932892, 30071874, 30161099, 30309264, 30408466, 30425269, 30554372, 30662666, 31299609, 31356542, 31356551, 3145239, 31553327, 31584530, 31645662		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	26711465	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30747785, 31354731, 31645662		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	35403328	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29434214, 31336248, 31356551, 31584530		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27730320		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28848230, 29558930, 31306657		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	37445853	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	28164132, 30057184	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31579995		★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	21957307, 25420215		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	34036391	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28732079, 31723016	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31723016		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	18063752, 26245468, 38115314	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	30618088		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10471042, 11159741, 12810634, 15499379, 16449345, 16596243, 17595257, 19391220, 20813963, 2153841, 23202296, 26437640, 26689911, 28637493, 28870918, 29184980, 29467847, 29879760, 29996878, 30447690, 30696442, 31312615, 31430634, 31439870, 7673409, 8380126, 8988724		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	24890433, 27507200, 28428988		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	29241624		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	10694923, 11232028, 11920339, 1303257, 16093448, 16120822, 16444918, 16580609, 17020465, 19488606, 19585583, 20163515, 20374732, 21917732, 22145481, 22386940, 22644838, 23150186, 24026507, 24733887, 26077742, 26795631, 27156763, 27780577, 28134709, 28476225, 29117938, 29125546, 29394883, 29463074, 29464737, 30988011, 31027113, 3132483, 31368050, 31494590, 31656992, 7564126, 8104196, 8730418, 8823534, 9027323, 9251762, 9587067, 9773787		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	10694923, 11232028, 11793119, 11916004, 11920339, 1303257, 15052464, 15249704, 16120822, 16502494, 16580609, 17020465, 18489790, 18519085, 18653713, 20163515, 20374732, 21917732, 22144672, 22145481, 22386940, 23150186, 24026507, 24733887, 26974133, 27156763, 29394883, 29422070, 29464737, 31348762, 7564126, 7920187, 7933835, 8104196, 8251344, 8267567, 8929875, 9027323, 9251762, 9587067, 9773787, 9853256		★☆☆☆☆ Found in Text Mining only
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	BEFREE	17229917, 17261972, 18753429, 19542240, 21834801, 25925274		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30614043		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	33382913	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30258045		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34866334	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23019235, 28337127, 28653829, 30194934, 31675164		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23584859, 31129157, 8584237, 9109434		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32787872, 35514993, 36574951, 36726838	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27730320, 27862176, 28337127, 28595078, 28836226, 29508284, 30276509, 30295793, 30448387, 30818045, 30936015, 30966861, 31525186, 31626545, 31749805		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24462936		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28503166		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31461843		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31320730		★☆☆☆☆ Found in Text Mining only
Neuropathy, Painful	Neuropathy	BEFREE	29339053		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30616678, 31586037		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	15249704, 31233816, 31369749, 31586470		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23647015, 24861026, 25623823, 28189916, 28245087, 28427239, 28499273, 28677866, 28939830, 28970254, 29229928, 29849583, 30019185, 30103942, 30105078, 30140371, 30208322, 30269815, 30700851, 31035998, 31230225, 31258620, 31263038, 31325892, 31593687, 31758699, 31827504, 31834465, 31841118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11429190, 25910707, 29808834, 30218857, 31692261, 31838136		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	26937962, 28249038, 28499273, 28564720, 28730512, 30387131, 30700851, 31585800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	19689789, 28589368, 30461129, 7819586		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	28847925		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	29344132		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	27829122		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24006511, 24013717, 27928437, 31551515, 32090515, 32624568, 39838349, 40004007	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24013717, 25011057, 25625584, 25626736, 26503846, 27942750, 28167369, 28398673, 28515391, 28764843, 28787716, 29150317, 29264745, 29345311, 29637447, 29740969, 29974524, 30113480, 30230367, 31082961, 31166619, 31200447, 31230225, 31306372, 31356551, 31379826, 31420721, 31551515, 31584530		★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	26503846	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	30930743		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	931428	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27146654, 30983879, 33677475, 33953899, 34643941, 36422510, 39189559	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	27777643, 30755787	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27777643, 28400913, 29105345, 29393464, 30106113, 30755787		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	35403328	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	31381888		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	38287380	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27665233, 28848230, 30422379		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27974218, 28167279, 29804160, 31461386		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34907823, 35872849, 36553538	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40595878	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	30739141		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37304662	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	29550485		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19068087, 28769575, 29386037		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	16806343		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35686324, 39969214	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	27418337, 29715134, 30622955, 31593700		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	28930866, 29715134		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	30461129		★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	31770592	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11009184, 11356310, 24694231, 27339879, 28247334, 28903492, 29196167, 29262843, 29665074, 29786071, 29786072, 29966531, 30224927, 30381407, 30594776, 30615919, 30966861, 30971058, 31036561, 31200447, 31232472, 31359520, 31680318, 31704453, 31787240		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30813952, 32824985, 36306116	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31915018	Stimulate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	31229841		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28247334, 28466394, 31187425		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	29802206		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	28442553		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	31507596	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29066283		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pericarditis	Pericarditis	BEFREE	29904810		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	35658515	Associate	★☆☆☆☆ Found in Text Mining only
Periodic syndrome	Periodic Syndrome	BEFREE	17950649		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	19664151, 22522430, 26854620, 27665233, 28341446, 28691886, 31557327, 31691738		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	19664151, 22522430	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	34840527	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28691886, 30315987, 30422379, 30779140, 30945296, 31341421, 31691738		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31978095, 37215133, 39978305	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	33504164, 36892058	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30249941, 31215249		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	31215249		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	30354670, 31316105		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	40725180	Stimulate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28551755, 29487501		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28271611, 30142638		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	31401632		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	24142982	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	31552548		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	15327388, 20167686, 22718190, 22952279	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	28057871, 28614813, 30870430, 31365096		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28081165, 28218410, 29146141, 29358433, 30096903, 30898339, 31656992		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27424881, 29295870		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32410849, 33395071	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	29464737, 31516786		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	CTD_human_DG	6696534		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28689067		★☆☆☆☆ Found in Text Mining only
Posterior reversible encephalopathy syndrome	Leukoencephalopathy	BEFREE	30924075		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	24462936		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	23710539	Associate	★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	25160604, 27912077, 30872395		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	32824985	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30002678		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28271611		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17440964, 28870918		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30627556, 34070682	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26160272	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	29550485		★☆☆☆☆ Found in Text Mining only
Pseudopapilledema	Pseudopapilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23171454, 24894535, 28096316, 28927892, 29767259, 30393369		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	29850521		★☆☆☆☆ Found in Text Mining only
Psychosis, Brief Reactive	Psychosis	CTD_human_DG	3567260		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CTD_human_DG	3567260		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	37373400	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	26711465	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30863307		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28408815, 31112544, 35534521, 35583006, 36066157, 36655999, 39838349	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28814068, 30466433		★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	28528200		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19633559, 24142982, 27885718, 28591554, 29084974, 29088003, 29393339, 29486589, 29512688, 30092543, 30447168, 30548648, 31683435		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	34220810, 36100803	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	17213252, 30560109		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	12355493, 15071491		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	26033552, 29430721		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	15094789		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	19098911		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28759873		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28759873, 30770793		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27262364, 28348462, 29241624, 30119203, 30545632, 31118021, 31276670, 31768838		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	26160272		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	30282823		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27816762, 28081165, 28280053		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	24572449, 28591554, 29258746		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	26418144, 29144508, 29783158, 31221118, 31474337		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29148047		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30927257		★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15071491, 15498798, 18263599, 19001869, 19443463, 19824913, 22128899, 23171454, 23687262, 24967817, 26095630, 26178285, 26440629, 28185410, 29230505, 29257274, 30152847, 30236770, 30277570, 30825154, 30911117, 31119302, 31601476		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	19001869		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28646872		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	36066157	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	CTD_human_DG	3567260		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20166940, 21899794, 25529259, 28294453, 28882471, 29108272, 30038496, 30539769		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	21899794, 37946206	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	3567260		★☆☆☆☆ Found in Text Mining only
Schizophreniform Disorders	Schizophreniform Disorders	CTD_human_DG	3567260		★☆☆☆☆ Found in Text Mining only
Schnitzler Syndrome	Schnitzler Syndrome	BEFREE	31268627		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38218765	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	38218765	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	28238167, 31594217		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28847925, 29512778, 30338413		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30980521, 35720321, 36923408, 39692606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	17515850, 23318584, 25216263, 25574840, 28031338, 28168403, 28245134, 28370493, 28428961, 28589293, 29176403, 29192367, 29375379, 29717520, 29896237, 29914696, 29974524, 30185517, 30190086, 30216298, 30455347, 30455398, 30787184, 30924075, 30927050, 30971430, 31075618, 31134844, 31173172, 31221993, 31432098, 31485604, 31545401, 31552054, 31676250, 31741197, 31775794, 31835087		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	30761102, 31034780		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	21385879		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	29281833, 29853787, 29864926, 29914105		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	36902104	Associate	★☆☆☆☆ Found in Text Mining only
Shy-Drager Syndrome	Shy-Drager Syndrome	CTD_human_DG	6850280		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	23906036, 28503820	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28229991	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	23703389		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	33879148	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34349888, 36517180	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	27756649		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30284175		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31132568		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10471042, 10537286, 10585887, 11429190, 14678991, 2153841, 25910707, 28503166, 29028089, 8961255		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	2832203		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10471042, 10585887, 12403649, 15613460, 1702222, 2991279, 30627556, 7540734, 8293425, 8297723, 9357056	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25910707	Stimulate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	25506924, 28116820	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28637493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22960999, 29248712, 30639619		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28430665, 31351424, 34212035	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	30315987		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31849516		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11159741, 20336794, 21576033, 25874489, 28430665, 28865486, 29184980		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28429348, 29932892, 31371896, 31432633		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	31257469		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24861026, 25934928, 26355342, 28905319, 28933629, 30266645, 31035998, 31162673, 31230225, 31700865		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29059152, 29552190		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35532261, 36541912	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	37661680	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35451420, 36574951, 36582742, 37794467	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28546552, 28579326, 28903766, 28928429, 29037840, 29163015, 29273596, 29726784, 30459553, 30572907, 30716395, 30875611, 31791369		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	35292262	Associate	★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	16724804		★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	25050926		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25739168, 28923085, 30081049		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31748742		★☆☆☆☆ Found in Text Mining only
Tendinitis	Tendinitis	BEFREE	29951874		★☆☆☆☆ Found in Text Mining only
Testicular adrenal rest tumor	Testicular adrenal rest tumor	BEFREE	17595257		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	31465733		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	29383704	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	29915579	Associate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	27904159, 28011393		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	27904159, 28011393		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11927382, 16255047, 17261972, 18984663, 2153841, 26312542, 27927236, 28251822, 28818586, 29075986, 29629516, 30364227, 30787184, 31004513, 31794422		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31412862		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31412862, 32578856, 37259036, 37681500, 37762557, 38254674	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19784369, 21248762, 24581881, 25297810, 27966619, 28139755, 28380426, 28523573, 29102545, 30188752, 30496979, 30530166, 30583612		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15261710, 28465217, 29902514, 31515707		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	16499879		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary Bladder Diseases	BEFREE	12722850		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34636069	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	LHGDN	11992256, 12355493		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	11992256, 27267333, 34868041, 37854599	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	15245511, 19364881, 20179416, 26931528		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28402258	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36707938	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	29678656		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	40057011	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29512782		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	29456821		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	26951289, 29302200, 29741202, 30618551, 30941060		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	35339998	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30525898, 31700106		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	31514535	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	30158835, 31836541		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	31186034	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	40045742	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28486916		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	34852350	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	26711465	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	34852350	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	10639182		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	33101286, 35712242	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31756352		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31756352		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	3929596		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	22719898	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	24462936		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	28216434		★☆☆☆☆ Found in Text Mining only
Yao syndrome	Yao Syndrome	BEFREE	31155445		★☆☆☆☆ Found in Text Mining only