PPARG (peroxisome proliferator activated receptor gamma)

Gene

• Entrez ID: 5468
• Gene name: Peroxisome proliferator activated receptor gamma
• Gene symbol: PPARG
• Synonyms (NCBI Gene): CIMT1, FPLD3, GLM1, NR1C3, PPARG1, PPARG2, PPARG5, PPARgamma
• Chromosome: 3
• Chromosome location: 3p25.2
• Summary: This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800571	C>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1805192	C>G	Risk-factor	Coding sequence variant, missense variant, 5 prime UTR variant
rs28936407	G>A	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs72551362	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs72551363	T>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs72551364	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs121909242	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs121909243	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs121909244	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs121909245	T>A	Pathogenic	Missense variant, coding sequence variant
rs121909246	C>T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs148195788	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587776687	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs770557781	C>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant
rs1378972597	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1553643326	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1553647989	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553650477	CTTGA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1553653993	T>C	Likely-pathogenic	Genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005023	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR	19800867
MIRT004000	hsa-miR-20b-5p	Luciferase reporter assay, qRT-PCR	21042576
MIRT004000	hsa-miR-20b-5p	Luciferase reporter assay, qRT-PCR	21042576
MIRT005489	hsa-miR-138-5p	qRT-PCR	20486779
MIRT005957	hsa-miR-130a-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005957	hsa-miR-130a-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005957	hsa-miR-130a-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005957	hsa-miR-130a-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005958	hsa-miR-130b-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005958	hsa-miR-130b-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005958	hsa-miR-130b-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005958	hsa-miR-130b-3p	GFP reporter assay, qRT-PCR, Western blot	21135128
MIRT005023	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22120719
MIRT006754	hsa-miR-20a-5p	Luciferase reporter assay	21743293
MIRT006754	hsa-miR-20a-5p	Luciferase reporter assay	21743293
MIRT023678	hsa-miR-1-3p	Microarray	18668037
MIRT024414	hsa-miR-215-5p	Microarray	19074876
MIRT026368	hsa-miR-192-5p	Microarray	19074876
MIRT005957	hsa-miR-130a-3p	Microarray	22942087
MIRT439927	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439927	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT005023	hsa-miR-27b-3p	5.0	26397063
MIRT054499	hsa-miR-27a-3p	qRT-PCR	25510894
MIRT005957	hsa-miR-130a-3p	Microarray, qRT-PCR, Western blot	26692941
MIRT005958	hsa-miR-130b-3p	qRT-PCR	26653558
MIRT005958	hsa-miR-130b-3p	qRT-PCR	26653558
MIRT005957	hsa-miR-130a-3p	ChIP-seq, ELISA, EMSA, Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26436920
MIRT005957	hsa-miR-130a-3p	ChIP-seq, ELISA, EMSA, Immunofluorescence, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26436920
MIRT005958	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27746169
MIRT005957	hsa-miR-130a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26398698
MIRT005957	hsa-miR-130a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26398698
MIRT005957	hsa-miR-130a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33658824
MIRT005957	hsa-miR-130a-3p	qRT-PCR	35187064
MIRT005958	hsa-miR-130b-3p	qRT-PCR	35187064
MIRT054499	hsa-miR-27a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37667246
MIRT054499	hsa-miR-27a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34831427
MIRT1251811	hsa-miR-128	CLIP-seq
MIRT1251812	hsa-miR-27a	CLIP-seq
MIRT1251813	hsa-miR-27b	CLIP-seq
MIRT1251814	hsa-miR-3140-3p	CLIP-seq
MIRT1251815	hsa-miR-5096	CLIP-seq
MIRT1251816	hsa-miR-513a-3p	CLIP-seq
MIRT1251817	hsa-miR-513a-5p	CLIP-seq
MIRT1251818	hsa-miR-1279	CLIP-seq
MIRT1251819	hsa-miR-3121-3p	CLIP-seq
MIRT1251820	hsa-miR-3163	CLIP-seq
MIRT1251821	hsa-miR-586	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX1	Activation	19059241
CEBPD	Activation	10649448;18619497;20971808
E2F1	Activation	12110166
E2F1	Unknown	20971808
E2F4	Repression	12110166
EGR1	Unknown	12011097
GATA2	Repression	19772889
KLF2	Repression	20693579
NCOR1	Repression	20462215
NR4A3	Repression	18855877
RB1	Unknown	20971808
SIRT1	Repression	15850715
SREBF1	Unknown	10409739
SREBF2	Unknown	10409739
UHRF1	Repression	22286757

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12700342
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18293083
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	25704091
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	25704091
GO:0001890	Process	Placenta development	ISS
GO:0003676	Function	Nucleic acid binding	EXP	19043829
GO:0003677	Function	DNA binding	IDA	18382765
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	ISS
GO:0003690	Function	Double-stranded DNA binding	IMP	19043829
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9568715
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	9568716, 10622252, 12955147, 16239304, 18293083
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004955	Function	Prostaglandin receptor activity	TAS	9568715
GO:0005515	Function	Protein binding	IPI	12040021, 12522104, 14701856, 15722453, 16239304, 17500595, 19043829, 19047629, 19846556, 20195357, 20211142, 20660480, 21478865, 21775429, 22078880, 22351778, 25609649, 32296183, 32814053, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16271724, 18382765
GO:0005634	Component	Nucleus	IDA	9568716
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007584	Process	Response to nutrient	TAS	10973253
GO:0008217	Process	Regulation of blood pressure	IMP	10622252
GO:0008270	Function	Zinc ion binding	IDA	19043829
GO:0008270	Function	Zinc ion binding	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18382765
GO:0010628	Process	Positive regulation of gene expression	IGI	28467929
GO:0010628	Process	Positive regulation of gene expression	IMP	29182484
GO:0010628	Process	Positive regulation of gene expression	ISS	31023188
GO:0010629	Process	Negative regulation of gene expression	IDA	28467929
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IGI	28467929
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IDA	12700342, 19114110
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	24751522
GO:0010887	Process	Negative regulation of cholesterol storage	IBA
GO:0010887	Process	Negative regulation of cholesterol storage	IDA	19114110
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0010888	Process	Negative regulation of lipid storage	ISS	29695452
GO:0015909	Process	Long-chain fatty acid transport	ISS
GO:0016525	Process	Negative regulation of angiogenesis	IDA
GO:0019899	Function	Enzyme binding	IPI	12039952
GO:0030154	Process	Cell differentiation	IBA
GO:0030224	Process	Monocyte differentiation	IDA	9568716
GO:0030509	Process	BMP signaling pathway	IGI	18382765
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	31023188
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IGI	28467929
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	21743293
GO:0030522	Process	Intracellular receptor signaling pathway	IBA
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0031348	Process	Negative regulation of defense response	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	17611579
GO:0032869	Process	Cellular response to insulin stimulus	IMP	10622252
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0033993	Process	Response to lipid	ISS	9568715
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	IDA	9568716, 12955147, 25704091
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	IGI	28467929
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	IMP	20622039
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	NAS	16373399
GO:0042277	Function	Peptide binding	IDA	19043829
GO:0042593	Process	Glucose homeostasis	IMP	10622252
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	16373399
GO:0042789	Process	MRNA transcription by RNA polymerase II	ISS
GO:0042802	Function	Identical protein binding	IPI	17937915, 25609649
GO:0043235	Component	Receptor complex	IDA	19043829
GO:0043409	Process	Negative regulation of MAPK cascade	IDA	18382765
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IDA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9568716
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045087	Process	Innate immune response	TAS	17145956
GO:0045165	Process	Cell fate commitment	ISS
GO:0045600	Process	Positive regulation of fat cell differentiation	ISS	27910957
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	21042576, 21743293
GO:0045834	Process	Positive regulation of lipid metabolic process	TAS	9568716
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19043829
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045923	Process	Positive regulation of fatty acid metabolic process	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9568716
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9568715, 12700342, 16239304, 16373399, 17611579, 18293083, 24751522
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20622039, 29182484
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	IDA	9568715
GO:0046965	Function	Nuclear retinoid X receptor binding	IPI	19043829
GO:0048384	Process	Retinoic acid receptor signaling pathway	IDA	16239304
GO:0048469	Process	Cell maturation	IDA	9568716
GO:0048511	Process	Rhythmic process	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IDA	18382765, 20622039, 31023188
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IGI	28467929
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IMP	29182484
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	ISS
GO:0050544	Function	Arachidonate binding	ISS	9568715
GO:0050692	Function	DNA binding domain binding	IDA	19043829
GO:0050693	Function	LBD domain binding	IDA	19043829
GO:0050699	Function	WW domain binding	IMP	22292086
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050872	Process	White fat cell differentiation	TAS	12588810
GO:0051049	Process	Regulation of transport	IEA
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	22351778
GO:0055088	Process	Lipid homeostasis	TAS	9113987
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	IMP	21268089
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IGI	28467929, 31023188
GO:0070165	Process	Positive regulation of adiponectin secretion	ISS	29695452
GO:0070412	Function	R-SMAD binding	IPI	31023188
GO:0070888	Function	E-box binding	ISS
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IDA	9568716
GO:0071456	Process	Cellular response to hypoxia	ISS	29695452
GO:0090258	Process	Negative regulation of mitochondrial fission	IMP	29182484
GO:0090575	Component	RNA polymerase II transcription regulator complex	EXP	15258145
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	9568716, 16373399
GO:0097677	Function	STAT family protein binding	IPI	28467929
GO:0140077	Process	Positive regulation of lipoprotein transport	IDA	9568716
GO:0140297	Function	DNA-binding transcription factor binding	IDA	10622252
GO:0141193	Process	Nuclear receptor-mediated signaling pathway	IEA
GO:1900076	Process	Regulation of cellular response to insulin stimulus	NAS	16373399
GO:1901202	Process	Negative regulation of extracellular matrix assembly	IDA	25704091
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	24751522
GO:1902894	Process	Negative regulation of miRNA transcription	IMP	28522568
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	25704091
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	ISS	29695452
GO:1903845	Process	Negative regulation of cellular response to transforming growth factor beta stimulus	IGI	28467929
GO:1904179	Process	Positive regulation of adipose tissue development	NAS	16373399
GO:1904597	Process	Negative regulation of connective tissue replacement involved in inflammatory response wound healing	ISS	29695452
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	28522568
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IMP	24960162
GO:1904893	Process	Negative regulation of receptor signaling pathway via STAT	IDA	28467929
GO:1905461	Process	Positive regulation of vascular associated smooth muscle cell apoptotic process	IMP	28522568
GO:1905563	Process	Negative regulation of vascular endothelial cell proliferation	IMP	24244514, 24960162
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IDA	18293083

Other IDs

• MIM: 601487
• HGNC: 9236
• e!Ensembl: ENSG00000132170

Protein

• UniProt ID: P37231
• Protein name: Peroxisome proliferator-activated receptor gamma (PPAR-gamma) (Nuclear receptor subfamily 1 group C member 3)
• Protein function: Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target
• PDB: 1FM6, 1FM9, 1I7I, 1K74, 1KNU, 1NYX, 1PRG, 1RDT, 1WM0, 1ZEO, 1ZGY, 2ATH, 2F4B, 2FVJ, 2G0G, 2G0H, 2GTK, 2HFP, 2HWQ, 2HWR, 2I4J, 2I4P, 2I4Z, 2OM9, 2P4Y, 2POB, 2PRG, 2Q59, 2Q5P, 2Q5S, 2Q61, 2Q6R, 2Q6S, 2Q8S, 2QMV, 2VSR, 2VST, 2VV0, 2VV1, 2VV2, 2VV3, 2VV4, 2XKW, 2YFE, 2ZK0, 2ZK1, 2ZK2, 2ZK3, 2ZK4, 2ZK5, 2ZK6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12577	PPARgamma_N	31 → 108	PPAR gamma N-terminal region	Family
  PF00105	zf-C4	137 → 205	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	299 → 486	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. {ECO:0000269|PubMed:9065481}.
• Sequence:

  MGETLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSF
  DIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKT
  QLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNC
  RIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLR
  ALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQE
  QSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLAS
  LMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVII
  LSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQL
  LQVIKKTETDMSLHPLLQEIYKDLY

• Sequence length: 505

Pathways

KEGG:

PPAR signaling pathway
Efferocytosis
AMPK signaling pathway
Longevity regulating pathway
Osteoclast differentiation
Thermogenesis
Non-alcoholic fatty liver disease
Huntington disease
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer
Lipid and atherosclerosis

Reactome:

PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
Nuclear Receptor transcription pathway
Regulation of PTEN gene transcription

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
Carcinoma of colon	Pathogenic	rs587776687, rs121909242, rs121909243	RCV000008608 RCV000008609 RCV000008610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CAROTID INTIMAL MEDIAL THICKNESS 1	Likely pathogenic	rs1326880981	RCV001836683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIABETES MELLITUS, TYPE II, DIGENIC	Pathogenic	rs2125215016	RCV001255195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Likely pathogenic; Pathogenic	rs1354592503	RCV004017828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INSULIN RESISTANCE, DIGENIC	Pathogenic	rs2125215016	RCV000008616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Likely pathogenic; Pathogenic	rs121909244	RCV001248978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs1553647989	RCV004669012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Likely pathogenic	rs2049559215	RCV001195982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPARG-related disorder	Likely pathogenic; Pathogenic	rs1354592503, rs2470725074, rs770557781	RCV004528495 RCV002470101 RCV004737576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPARG-related familial partial lipodystrophy	Likely pathogenic; Pathogenic	rs1354592503, rs2125177235, rs2125252529, rs1326880981, rs2125285337, rs2125284331, rs121909244, rs72551362, rs72551363, rs72551364, rs121909245, rs121909246, rs2470895197, rs2470953036, rs2050642774, rs1553643326, rs148195788, rs1553647989, rs1378972597, rs1553650477, rs1553653993, rs770557781, rs2050647473, rs150296212, rs2050647141	RCV003227971 RCV001779170 RCV001706898 RCV003228003 RCV001837074 RCV002221404 RCV000008612 RCV000008613 RCV000008618 RCV000008619 RCV000008620 RCV000008621 RCV003108236 RCV004584240 RCV004584241 RCV000500158 RCV000499572 RCV000500715 RCV000503151 RCV000499764 RCV000501839 RCV000503538 RCV001253351 RCV001253577 RCV001262840	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Pathogenic	rs2125323710, rs2051760352	RCV002250257 RCV002250258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONOBIOLOGY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ 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
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GENERALIZED LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY KOBBERLING TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL GLIOBLASTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited obesity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy - childhood onset	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Morbid obesity	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPARG POLYMORPHISM	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 4	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	10762291		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	24984871, 29120856, 30859308		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	24984871, 29120856, 30859308		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	11994396, 12915690, 16343104, 26575115		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	12379847		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	14500030, 17892998, 19117570, 19500413		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	17892998		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	16156795, 16499875		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	20623750, 24011919, 24433871		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28108519, 28275008		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17374881, 18075297		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	28154092		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10984506, 11034103, 11044367, 11494023, 11948134, 15073042, 15608671, 17611675, 20123124, 23707988, 27876017, 9734398		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16215757, 18372284		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	27499265		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21473290		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	17611675, 27565680		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11948134, 15866424, 22843091, 24603556, 29080795, 30798928, 31088909		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	25931782		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	19963130		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12161538, 12519876, 17123335		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12170088, 15191358, 15309887, 15362967, 17561883, 24830619		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15550453, 15564289, 16775170		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15190077, 15665104, 23640045, 30272823		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	18423377		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	15585569		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28646664		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22407012, 24569090, 30607709		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	24489901, 30219229		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28887057, 29925537		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	15585569, 15886257		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	18652780		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	27932380, 29477189		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15946122, 20164187, 28346566, 28427149, 29723294, 31175839, 33920138, 36982725, 37918553	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	16988505, 18573313, 21970714, 26531229, 27396818, 28346566, 28427149, 29723294		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26080426, 27791018, 28449688, 28946859, 30136058, 31379559		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16120782, 16766086, 18312546, 22910911		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15238980, 26193637, 31253783		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	12170088, 18502330		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12495476, 14654945, 16777971, 17131411, 19208833, 23598436, 24645981, 27268919, 28730964		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	19772889	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	36952641	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27612006		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	26539497	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	31252163		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	28275008		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	40531840	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31311829		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	27483138	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	CTD_human_DG	28182703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	27956741		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27956741		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	33849116	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	27855608		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	19438902, 28446225, 28912007, 33858751, 37737183	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19438902, 23446230, 27045031, 28434702, 30066924		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	19470430		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	15585569, 15886257		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	19772889, 31400610		★☆☆☆☆ Found in Text Mining only
AROMATASE EXCESS SYNDROME	Aromatase Excess Syndrome	BEFREE	25645824		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	19497962, 23354045, 25971409		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	23354045, 33670616	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10073956, 10101923, 10725292, 10953027, 11231915, 11500181, 12364466, 12417276, 15667578, 16259527, 16311343, 17004092, 17261671, 17892998, 18162503, 18308193, 18362424, 19156545, 19395102, 20362279, 20508203, 20682172, 20842602, 21262584, 21700710, 22157260, 24040204, 24586211, 24594319, 25010893, 25096510, 25159899, 25521362, 25897794, 26363808, 26566726, 26706782, 27016616, 27264718, 27530451, 27855608, 27890613, 28338883, 28408371, 28527578, 29115433, 29355589, 29566305, 29628981, 29867472, 29883404, 29954752, 30612469, 30697628, 30881312, 31055770, 31099308, 31153873, 31524223, 31529020		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	LHGDN	15144586		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19646655, 20820843, 30160015		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18302252	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	30228306, 31367941		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16783862, 24697566		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	31239244		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	14718259, 19217272, 30087444, 31506535, 34456632, 36114491	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16312170, 17329993, 19217272, 28107868, 28381639, 30022363, 30544130, 31506535		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	17329993		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	27268919		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10073956, 10101923, 10725292, 10953027, 11231915, 11500181, 12364466, 12417276, 15667578, 16259527, 16311343, 17004092, 17261671, 17892998, 18162503, 18308193, 18362424, 19156545, 19395102, 20362279, 20508203, 20682172, 20842602, 21262584, 21700710, 22157260, 24040204, 24586211, 24594319, 25010893, 25096510, 25159899, 25521362, 25897794, 26363808, 26566726, 26706782, 27016616, 27264718, 27530451, 27855608, 27890613, 28338883, 28408371, 28527578, 29115433, 29355589, 29566305, 29628981, 29867472, 29883404, 29954752, 30612469, 30697628, 30881312, 31055770, 31099308, 31153873, 31524223, 31529020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	10681562, 11934839, 12028454, 14534304, 14675851, 15143161, 15533057, 17322631, 17492134, 17681149, 18195488, 18362424, 19228871, 19888469, 20334678, 21206011, 21700710, 21709632, 21726861, 24371822, 25159899, 25595457, 29077145, 30697628, 34243632, 35543243, 36303246, 9665460, 9714568, 9831704	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	11861426, 16311343, 19814730, 20334678, 22653647	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	12861348, 15533057, 18004978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	18269830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	19569080, 28347792, 30400228		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	19569080	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	17374881, 18075297		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21482872	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30104725, 31348919		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31348919		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18211635, 18977277, 22447120, 31614690		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22446964	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19018532, 24858696, 26295369, 28580305, 28711948, 29115547, 29568888, 29729707, 29861101, 30365125		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG	15387324		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	CTD_human_DG	15387324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	21473290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behavioral tic	Tourette syndrome	BEFREE	28514232		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21645960, 24189640, 28636803		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	15880426		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	31432248		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29102659		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39191171	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10935488, 11485917, 16110031, 23088980, 23409107, 23522297, 28740126, 28923856, 29483814, 30651555, 30845932, 30852032, 30912275, 31164653, 31358595, 31555390, 31772149		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	11888683, 11980898, 16391825		★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	19543210, 26865646	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	26643206, 31606379		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	35922782	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18710415, 21605119	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic Inborn	Brain disease	Pubtator	18076675	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	30852719		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10851250, 15254749		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	10851250, 12079514, 19018263, 22531638	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	30018246		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10506103, 10536181, 10715540, 10749129, 10996432, 11850224, 12186376, 12203367, 12439219, 12455057, 12615709, 12736714, 12866036, 12934104, 15313896, 16601291, 17348446, 17428620, 17639046, 17902047, 18288403, 19061500, 19298655, 19887620, 20054646, 20650001, 20734220, 21140205, 21349264, 21467033, 21498701, 21654191, 22301832, 22493352, 22583414, 22787115, 23130662, 23372804, 23866026, 23906790, 23939428, 23964924, 24293218, 24564733, 25119466, 25422184, 25449421, 25645824, 26272430, 26686086, 27102200, 27556298, 27557380, 27865894, 27916422, 28396148, 28427429, 28669518, 28739725, 28769000, 29256014, 29566941, 29581787, 30224430, 30444720, 30474469, 31331908, 31799666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10984506, 11044367, 11378386, 11668172, 12079514, 12379472, 15318936, 15569667, 17348446, 19061500, 19495794, 19644018, 21467033, 22301832, 23292282, 23372804, 23939428, 24338422, 24564733, 25119466, 26126114, 26549231, 26790955, 28739725, 29256014, 30224430, 30305115, 31141879, 31964465, 32028860, 32085795, 33380715, 33670444, 34756920, 35037412, 35079875, 35163433, 35406808, 36096037, 36114448, 36142452, 37747031, 39326102, 9660931	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27556298	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28427429	Stimulate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	11318962		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	30114278		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	30114278	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	21821729, 28381639, 28886148, 29428947		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	18824496, 25168383, 28555877		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	19018532	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	12354743		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15274390, 15492468, 16854216, 18360708, 18372284, 22301832, 23317272, 23614038, 23939428, 24114184, 24631504, 25590353, 27499265, 28208577, 31821746, 33197888, 35449157, 36735267, 37873683	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30186819	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11034103, 11511919, 12170088, 15073042, 15266333, 15274302, 15309887, 15362967, 15863131, 16601291, 16609007, 16643621, 17085658, 18757431, 19016747, 19147628, 20596649, 21763631, 23933154, 24189640, 25516376, 26988609, 27687006		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	26429873	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11401318, 11889080, 12412180, 12918101, 14563954, 14741344, 15294900, 15467764, 18407589, 19684609, 20044617, 23640460, 23703729, 25387077, 25836616, 27094504, 27483249, 29845188, 30250040, 31059053, 32638211, 33941198, 35449157	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23212831	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	18237383	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	23114535	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10935488, 11485917, 16110031, 23088980, 23409107, 23522297, 28740126, 28923856, 29483814, 30651555, 30845932, 30852032, 30912275, 31164653, 31358595, 31555390, 31772149		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11205925, 15041706, 15866424, 15899809, 16199155, 18187557, 19138979, 20081051, 21159608, 21922129, 22145026, 22463586, 22843091, 26244663, 26863638, 27364335, 29137280, 29378193, 30858930, 31300983, 31537582		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	15583697, 17032502	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31311829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19252820, 23658787, 25122050, 26722456, 30699358	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22426809, 24917395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36323682	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	11034103		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12934104, 15266333, 16985067, 17032502, 21329655, 25944662		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	17085658		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	14675851	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	15671204, 29622583		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29622583, 39294340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	39596228	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32455814	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	14675851		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30189217		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10680041, 15524180, 18173954, 18241614, 18308193, 18417957, 18467141, 19117570, 19228871, 19569080, 19808901, 24841086, 26475999, 28521870, 28550474, 28736228, 28757415, 29287795, 29954752, 30829051, 31577451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18241614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19228871, 19569080, 23389305, 23825649, 25923461, 35285386	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	LHGDN	15284449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	Pubtator	21709632	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	15284449, 28408371		★☆☆☆☆ Found in Text Mining only
Carotid Intimal Medial Thickness 1	Carotid Intimal Medial Thickness	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carotid Intimal Medial Thickness 1	Carotid Intimal Medial Thickness	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Cataract	BEFREE	30259675		★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	19279199		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	27483138	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	19651920, 30697628	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	20127524, 27420933, 28526834, 29039513, 30344683, 30502652, 31756041		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17084528, 17359638		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23129362, 23526793, 25659766, 28526834, 29032144, 29197071, 29475098, 29964054, 31596946		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15863131, 24716976, 27888104		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15863131, 24716976, 27888104		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	17329993		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22407012, 24569090, 30607709		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12829999, 16927143, 23687300, 28560603		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	12829999		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	15880426		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	LHGDN	15880426		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17696929, 30554802		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	17696929, 30554802		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24489901, 31658492		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	35196362	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	24489901, 30219229		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	30554802		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	11953889, 22840054, 29573200		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	11953889		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	11953889, 29573200	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	18855877	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10833383, 12029076		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	12029076		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	20164187, 23636469	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	20693431, 31428088		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	29984341		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16115480, 25784779, 26881045, 27925431, 28550474		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16291834, 19282863, 21040163, 25374119, 26881045, 28550474, 28860994, 29197521, 30625473, 31614690, 31614978		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31076448		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19218654, 20732852, 20840543, 21044285, 22815389, 23349676, 24368768, 27499265, 29268377, 30118830, 31773117		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	21252350		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	31839751		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology Disorders	CTD_human_DG	22899986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Circadian Rhythm Disorders	Circadian Rhythm Disorders	CTD_human_DG	22899986		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28590037, 30250040		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	16766086		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17052804, 18639367, 28181642, 29116943, 34762981	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29116943	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	12730867, 17148664, 21068720, 21829567, 22509338, 23651165, 23949622, 28336257, 29375382, 29529198, 29630407, 30804707, 31202807, 31326516, 31386886		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	22662201	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	33820558	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19104705, 26462859	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21245992, 23256116, 24971461, 33299870, 36982725	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10449430, 11044367, 11494023, 11950812, 12269390, 12370429, 12475986, 12591919, 12946210, 12946234, 14634802, 14670614, 15073042, 15255176, 15342379, 15665104, 15860437, 15894676, 15911106, 16155208, 16327995, 16489531, 16849586, 17611675, 18203887, 18391483, 18704457, 19458067, 19551868, 20440859, 20510503, 22771328, 23516550, 23583560, 24696378, 24999478, 27417252, 27499265, 28007957, 28298922, 29472793, 30595551, 30931956, 9734398		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12915690, 15008240, 16489531, 20716632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14506281, 15894676, 17461486, 17482764, 17611675, 18203887, 18608213, 18645029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	20540935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	27499265, 27565680, 30595551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10851250, 11956653, 12606626, 12711249, 12839942, 14566836, 15853832, 15857827, 15894676, 15911106, 16108832, 16141797, 16489531, 16520894, 16937502, 16965392, 17096328, 17290397, 17390024, 17659359, 18608213, 18992148, 19283612, 20123124, 20385121, 20440859, 20596649, 21151932, 21765467, 22286757, 23583560, 23640045, 24027433, 24045924, 24133572, 24552298, 24631504, 24975132, 25075794, 27499265, 28504924, 28878369, 29566941, 30489355, 30595551, 30809808, 30838172, 30931956		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	16489531		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10076568, 10394368, 10851250, 11044367, 11378386, 11447213, 11950812, 12475986, 14521714, 14634802, 14662774, 15486348, 16108832, 16288226, 16854216, 16937502, 17143939, 17551074, 17565986, 17604322, 18203887, 18360708, 18992148, 19186181, 19283612, 19551868, 19912441, 21151932, 21765467, 22543585, 22761953, 24045924, 24338422, 24631504, 25098256, 25379721, 26130665, 27401066, 27428427, 27499265, 28504924, 29197895, 29740162, 29970681, 30186819, 30595551, 30931956, 30985693, 31244280, 32655010, 32813759, 34026331, 34889713, 34931923, 35738614, 37041476, 37530325, 37759783, 38177114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11956653, 12839942, 14566836, 16513680, 16574647, 16854216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	12711249, 15911106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	16489531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18195488, 24133572	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18992148, 23583560, 24116229, 28878369, 34876290	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23647960		★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	BEFREE	12354743		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28560603		★☆☆☆☆ Found in Text Mining only
Congenital generalized lipodystrophy	Congenital Lipodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	23436219	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19300450, 21825219, 22879581, 27631136, 27937122, 29081262, 29401584, 31133853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	29606859		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11511919, 15916743, 16643621, 21206970, 29866440, 31090452		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	21726861	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10690291, 11916624, 14616762, 14659862, 17322631, 17892998, 20334678, 20430250, 21036322, 21536015, 21548985, 21643757, 21861709, 22515931, 22987045, 23065280, 23266668, 23300871, 23583468, 25595457, 25896411, 27150726, 27510704, 28415751, 28533333, 28744220, 28916975, 29441810, 30964707		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10690291, 11916624, 14616762, 14659862, 17322631, 17892998, 19228871, 19500413, 19644041, 20334678, 20430250, 21036322, 21548985, 21643757, 21861709, 22515931, 22987045, 23065280, 23266668, 23300871, 23583468, 25595457, 25896411, 28415751, 28533333, 28916975, 29441810, 30156736, 30964707, 31102956, 31368668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	17342071, 17892998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	19228871, 20334678, 21206011, 21726861, 21889313, 25595457, 28415751, 31368668, 35866398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	21709632	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	19814730	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	26045830	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10690291, 11916624, 14616762, 14659862, 14675851, 15920035, 17322631, 17892998, 19500413, 19543210, 20334678, 20430250, 21036322, 21548985, 21643757, 21833536, 21861709, 22515931, 22987045, 23065280, 23266668, 23300871, 23583468, 25595457, 25896411, 26045830, 28415751, 28533333, 28916975, 29441810, 30964707		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	15920035		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	20334678	Inhibit	★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	12354743		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15685547, 17148664, 19104705, 20421464, 20650551, 21710534, 21829567, 23256116, 24971461, 26462859, 28990050		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21829567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	23256116	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	26462859	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30086355		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	38098864	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28801055		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	30623541		★☆☆☆☆ Found in Text Mining only
Cyclical vomiting syndrome (disorder)	Cyclical Vomiting Syndrome	BEFREE	30612469		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	18490773, 22860094	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18556801, 22494945, 22860094, 27484450, 30114278		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30114278, 32537652	Inhibit	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11840453, 16973789, 19766907, 20820843, 22840054, 23884832, 26391061, 27734234, 27903618, 29673954, 29976400, 30981079, 31239244, 31366866		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	17568789		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16988505, 21970714		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	18639367	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	29241675		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	12112074, 28647405		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27956741, 29730170, 30191781, 30864711		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	37747031	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29288652, 30642981		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33683743	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	18092840		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	17181634		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	17181634		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	10815854		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	33766508	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10843155, 10843190, 11213897, 11289058, 11900961, 12096349, 12643137, 14693717, 14729856, 14755307, 15146371, 15192439, 15284449, 15855323, 15976135, 15994875, 16061040, 16489531, 16567542, 16804087, 17004092, 17052804, 17178896, 17213274, 17227883, 17287921, 17493550, 17496355, 17548123, 17563457, 17903298, 17941898, 18280041, 18385139, 18573313, 18806296, 18927468, 19436234, 19557028, 19651920, 19866471, 20099993, 20406760, 20724579, 20863714, 21109018, 21501146, 21643757, 21795447, 21833536, 21861804, 21968139, 22017455, 22129188, 22558147, 23006958, 23370527, 23583468, 23650507, 24841086, 25896411, 26946260, 27834124, 27993834, 28028076, 28124440, 28177068, 28483572, 28566629, 28677503, 28769000, 28790817, 28975471, 29190548, 29222347, 29244961, 29355589, 29473866, 29628981, 29694509, 29948407, 30121577, 30595551, 30609258, 30873215, 30931956, 31131751, 31382473, 9918859		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	11832353	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28133617, 28699988, 29385062, 31651513, 33551986	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34912302	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10843155, 10843190, 11213897, 11289058, 11900961, 11916624, 12096349, 12643137, 14693717, 14729856, 14755307, 15146371, 15192439, 15277984, 15284449, 15855323, 15976135, 15994875, 16061040, 16489531, 16567542, 16804087, 17004092, 17052804, 17178896, 17213274, 17227883, 17287921, 17493550, 17496355, 17548123, 17563457, 17903298, 17941898, 18280041, 18385139, 18573313, 18806296, 18927468, 19156545, 19436234, 19557028, 19651920, 19808645, 19866471, 20099993, 20406760, 20724579, 20863714, 21109018, 21501146, 21643757, 21795447, 21833536, 21861804, 21968139, 22017455, 22129188, 22558147, 23006958, 23370527, 23583468, 23650507, 24841086, 25484175, 25896411, 26946260, 27834124, 27925431, 27993834, 28028076, 28124440, 28177068, 28285161, 28483572, 28487036, 28566629, 28677503, 28769000, 28790817, 28975471, 29190548, 29221940, 29222347, 29244961, 29355589, 29473866, 29628981, 29694509, 29923224, 29948407, 30048968, 30121577, 30595551, 30609258, 30816473, 30848505, 30873215, 30931956, 31087547, 31131751, 31161987, 31382473, 9918859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	12028454, 12096349, 12832613, 14729856, 15130939, 15143161, 15161789, 15543562, 15830179, 15976135, 15994875, 16316841, 16412238, 16538490, 16881538, 17052804, 17213274, 17496355, 17898990, 18076675, 18639367, 19125195, 19228871, 19436234, 19651920, 19806227, 20929593, 21765467, 22017455, 22056417, 22140563, 23006958, 23147557, 23389305, 23754948, 24447396, 26615044, 27150869, 28953253, 29464546, 30595551, 30931956, 31194872, 32816832, 33048460, 33551986, 33784687, 33831079, 34764936, 35422762, 36360783, 37993469, 38177114, 39420889, 9065481, 9425261, 9714568	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	LHGDN	12536206, 16316841, 18936159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	16168052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	34026331, 34801581	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19455305, 26615044, 37338602	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10873398, 10984506, 12429071, 12663371, 14534304, 14981210, 15161789, 15543562, 15774022, 15784141, 15830179, 16007414, 17020404, 17213274, 17322631, 17463248, 17570749, 17825092, 18059616, 18498634, 18598350, 18639367, 18678618, 19125195, 19324937, 19346435, 19533082, 19720797, 19745552, 19846176, 19846795, 19862325, 19917066, 20142250, 20161779, 20334678, 20368233, 20424228, 20930717, 20977574, 21181894, 21206011, 21904299, 22017455, 22023374, 22174394, 22216000, 22569928, 22662265, 22791750, 22998375, 23147557, 23286787, 23386649, 23389305, 23559865, 24280871, 24427296, 24447396, 24929251, 25157153, 25368101, 25584717, 25889595, 25928419, 25954810, 25974167, 26105050, 26273662, 26606528, 26615044, 26975253, 27075119, 27424010, 27483138, 27749844, 28418876, 28699988, 29057944, 29256014, 29303622, 29703528, 29806605, 30064293, 30352878, 30827999, 31123324, 31188078, 31368668, 31912623, 31947684, 32041280, 32239932, 32455814, 33051435, 33784687, 33955199, 34243632, 34502231, 34764936, 35292917, 35334221, 35485096, 37047733, 37234928, 37993469, 38136661, 39217825, 9425261, 9449686	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14988278, 18211635, 18466209, 19455305, 29671030, 30400642		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10389855, 10634806, 10777704, 10843190, 10953027, 10973253, 10984506, 11079814, 11231915, 11242476, 11409297, 11872365, 11916624, 11980626, 12062858, 12201821, 12218380, 12370429, 12406034, 12417276, 12429071, 12588773, 12610044, 12663371, 12923397, 12946210, 14514601, 14730379, 14730381, 14981210, 14988278, 15073042, 15111507, 15192439, 15464424, 15486307, 15558556, 15561965, 15562396, 15563983, 15578751, 15782399, 15784141, 15797964, 15824463, 15830179, 15855323, 15887858, 16007414, 16096283, 16108843, 16249460, 16253648, 16401314, 16412273, 16474966, 16567542, 16759305, 16804087, 16822823, 16920849, 17020404, 17168709, 17213274, 17292728, 17390024, 17434720, 17439324, 17463248, 17479445, 17493550, 17561964, 17563457, 17570749, 17611413, 17639046, 17681394, 17700648, 17985660, 17994213, 18004211, 18067759, 18077048, 18091023, 18162503, 18241614, 18250615, 18316027, 18466209, 18467141, 18498634, 18598350, 18639367, 18657335, 18678618, 18718916, 18972257, 19285096, 19303976, 19506043, 19536736, 19538231, 19557028, 19560328, 19745552, 19766907, 19808901, 19821054, 19846173, 19846176, 19846795, 19913841, 19966034, 20026355, 20045142, 20079163, 20127524, 20157827, 20161779, 20179158, 20334678, 20367191, 20410232, 20498286, 20820194, 20842602, 21040163, 21169132, 21181894, 21206011, 21262584, 21284483, 21289232, 21347323, 21436302, 21532595, 21540831, 21565989, 21605560, 21795447, 21833536, 21834909, 21904299, 21968139, 22017455, 22023374, 22070604, 22216000, 22377712, 22413765, 22433868, 22515931, 22569928, 22619290, 22621923, 22672138, 22749234, 22937051, 23018631, 23096090, 23161442, 23249316, 23254958, 23386649, 23426382, 23458876, 23651165, 23713695, 24280871, 24427296, 24440313, 24447396, 24612564, 24841086, 24969838, 25063576, 25157153, 25249007, 25274455, 25368101, 25531136, 25584717, 25875529, 25928419, 25974167, 26643367, 26687697, 26836268, 26975253, 26999420, 27035557, 27320332, 27567620, 27602589, 27631136, 27749844, 27896820, 27915399, 27978584, 28031713, 28123453, 28249245, 28263783, 28298922, 28334807, 28418876, 28485590, 28499821, 28575810, 28609708, 28720328, 28751004, 28810524, 28853334, 28928054, 28972081, 29022212, 29032144, 29057944, 29089569, 29137280, 29160030, 29163673, 29203903, 29216352, 29222348, 29247773, 29256014, 29387206, 29441829, 29735636, 29772226, 29964054, 30021345, 30027469, 30060458, 30064293, 30185551, 30420515, 30594432, 30627576, 30639037, 30676741, 30827999, 30864372, 30867485, 30964707, 31131751, 31159430, 31204468, 31253533, 31279631, 31317231, 31333088, 31371757, 31555078, 31599132, 31709631, 31730865, 31825687, 9449686, 9709955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12829658, 15161789, 15558556, 15563983, 15959417, 17434720, 18091023, 18241614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	15592662, 16123366, 16249460, 17317762, 21484566, 28182703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22885922, 24509480, 28869590, 29358691, 29632382, 30054458, 30595370, 30718926, 31118516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22885922, 24509480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	30398029, 31479752		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28449155, 30189217		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	34801581	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	15113752, 16291834, 19533082, 25889595, 27069916, 31912623, 34764936	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	14633865, 16687627, 17493550, 18417957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15113752, 16291834, 17493550, 17681394, 18417957, 18467141, 19506043, 19837787, 19900151, 22103651, 23370527, 27145370, 27351287, 28013303, 28137588, 28182703, 28277542, 28539091, 29344670, 29421772, 29488390, 30386303, 31363374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	28182703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	21926103	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	15782399, 18077048, 18806296, 21480863, 21501146, 21820420, 23559865, 25274455, 25487307, 27427939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	18077048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	19125195, 21501146, 23559865	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39900481	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	24405857, 24510380		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	12424006		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37792788	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31596727		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	37781924	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	10924736, 11158005, 12406034, 12974743, 18713822, 20123124, 23673903, 24460649, 25216344, 25389363, 25896411, 26706782, 30021345, 30308492, 30333041, 31161987, 31333088, 31364797, 31658492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	CTD_human_DG	16168052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	LHGDN	18388689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	Pubtator	20825652, 21533120, 24460649, 27075119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	19383491, 31368668		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37873683	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	17181634		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	20631015	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	18670212, 28886715		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	26253174	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11511919, 15608564, 25592200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	16857792		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33197888	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	12620489, 15136115, 18571164, 23347089, 24064359, 35285386	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15136115, 20560917, 20970133, 31119261		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16725353		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28783701		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	32352681	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	29371918		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30623373		★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	29503620		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	21699747		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	12651598, 29254243		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11494023, 12080324, 12324573, 15274302, 27323819, 29221176, 29254243, 31267531		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12080324, 12324573, 27323819, 29221176, 29254243, 31267531		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12324573		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15274302, 16805824, 27323819	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25220908	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15824463, 21146687, 23530462, 28727849		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	BEFREE	18624999		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	15920699, 18855877		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	28887057		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	14516935, 24980513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	ORPHANET_DG	24980513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18398047		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	11788685, 12453919, 15531525, 15890790, 17299075, 17312272, 17356052, 17374881, 18388689, 21479595, 23393388, 24152769, 28641778, 31194872		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Partial Lipodystrophy	LHGDN	17766367		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial partial lipodystrophy	Partial Lipodystrophy	CTD_human_DG	19793595		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	CTD_human_DG	19793595		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	BEFREE	16412238, 18805829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	CTD_human_DG	19793595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CLINVAR_DG	10622252, 15254591, 22461176, 25157153		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	UNIPROT_DG	11788685, 12453919		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	ORPHANET_DG	11788685, 12453919		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	BEFREE	16412238, 22559930, 23393388, 26119484, 28300834, 29163553, 30742913, 31000363		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CTD_human_DG	19793595		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28416286, 29402273		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28416286, 29402273		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	15716267, 17484888, 18809223, 20890895, 21757225, 26368128, 26564715, 27799461, 29062573, 29656250, 29770757, 31246177, 31287882, 31292134, 31364797, 31564684, 31707284		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	LHGDN	17482764		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	20168312	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	21155004, 24534255, 27034954, 30250040, 35422762, 36171144, 40065360	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	21155004	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17928738, 23891824, 27658772, 28063004, 28670854, 29042644, 29602237, 30561132, 31678261		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	21155004		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20198337		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15980055, 22941276, 23647960, 24036368, 25072612, 25609425, 27002005, 27040153, 27655446, 27709831, 28919365, 29312518, 29344293, 30818137, 31437794, 31561855		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	22351778		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12170088, 15362967, 15483076, 21763631, 21983636, 23025542, 25487739, 27473101		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11511919, 12519876, 12970322, 15077183, 15238980, 15483076, 15972966, 16219715, 16314832, 16352687, 16609007, 16946003, 19797117, 19883731, 19963130, 20056739, 20427420, 21739166, 21763631, 21983636, 22895275, 23025542, 23738683, 24510380, 24798894, 25069464, 25487739, 25708358, 25999051, 26649796, 27268919, 27618325, 28621837, 29108474, 31671409		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	19376812		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	19376812, 20383327, 29402273		★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	BEFREE	30362109		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	18372284		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	29944876		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	17763950		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	20568969		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	15507122	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	18195488	Inhibit	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	12029076		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	ORPHANET_DG	10851250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell glioblastoma	Giant Cell Glioblastoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	31247081		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10851250, 15254749, 19158480, 29254243, 29453045, 30118847, 30176701, 31652556		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10851250, 15456533, 19018263, 26818439, 28642874, 33038582, 33652086	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	14686729		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10851250, 15254749, 19158480, 29254243, 29453045, 30118847, 30176701, 31652556		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12065618, 16319070, 19158480, 26653558, 28410531, 28454441, 28534509, 31652556		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12079514, 16319070, 22531638, 27122306, 28410531, 31652556, 32198386, 36067936	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19018263	Inhibit	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	ORPHANET_DG	10851250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	11318962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	15526907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	35172688	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	22351778	Associate	★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	28687706		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28887057		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	37338602	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	22982856		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	29653259, 30706710		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	16187907, 18624999, 23604462, 24080368		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	14764816, 15886250, 32908802, 33488522	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	31415657	Inhibit	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	17042679, 25766885		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	14675851, 22606221, 32455814, 33907846	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	12861348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	16185925, 37950149	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	19300450, 22879581, 27631136, 27937122, 29081262, 29401584, 31133853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	29151490, 29695452		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	21689017		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29331412		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	12946210		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	15245439	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	35037412	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26735218	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	15123625		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	22940187		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37181035	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15492468, 19140230		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	29323103		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20556492, 20668093, 21757867, 22627493, 23373812		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	12029076		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	12029076		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	10762291, 21827375, 22349439, 30508725		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	11591408, 21827375, 29630096	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	23145084	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	26679939		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	12628477, 16567542, 20145925, 20724579, 21725906, 23479332, 26010611, 27388525, 28111985, 28391584, 28759754, 29464546, 29964054, 30021345, 30187673, 30627576, 30798121, 31279631, 31364797, 31529536		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16567542		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	26010611	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31398873	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29413962		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	11001753	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	12370112, 15853827, 16567542, 20368233, 23748472, 30732555		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	16567542		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	16096283, 19285096, 19866471, 20026355, 21669017, 21725906, 23583468, 31246177, 31295384, 31770672		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	16096283		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	18340007	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	10924736, 11979403, 14680975, 18340007		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	LHGDN	11979403, 14680975		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	35866398	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	Pubtator	22023374	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	29197521		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	36901853	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	12096349, 17874829, 19569080, 19609054, 20623456, 20631015, 22023374, 26782582, 28827564, 29315078, 36947700, 37107672	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	29806605	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	25557278, 27432037	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37792788	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10405788, 10622252, 12056809, 12574109, 12714563, 15201543, 15254581, 15254591, 15464424, 15563983, 15599700, 15662218, 15716267, 16259527, 17339535, 17579564, 18316027, 18382765, 19569080, 19651920, 19766907, 20371457, 20622120, 20631015, 20890053, 23393388, 23530462, 26782582, 27602589, 27871858, 27881385, 28116732, 28234672, 28352663, 28396833, 28484848, 28507170, 28539091, 29266977, 29695452, 29806605, 29884931, 30714402, 30777927, 30791536, 30813929, 30896450, 31104564, 31108332, 31184312, 31404524, 31606379, 31730865, 31789920, 31815758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	14616762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15199296, 19666838, 27292124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	20427420		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	16412238, 18424599, 29315078, 35422762	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17579564		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17579564		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34186270	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	23237621		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	23237621, 39796505	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoadiponectinemia	Hypoadiponectinemia	BEFREE	15716267, 20168312		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31697972		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	39236653	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	31215278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	17049073, 23455892, 28042952	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24307415, 25557278, 33907846, 37759548	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36230969	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18382765, 20204748, 20371457, 23525442, 25795136, 28467929, 29146573, 29151490, 29527168, 29695452, 29723610, 30081553, 30699358, 31017016, 31023188, 31577451, 31815758		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	39313791	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	29146573		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	14616762, 19443277, 28397719		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28314381		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	28314381	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18670212, 31319451		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18280041, 19766907, 27240542, 27940378, 28181642, 28881034, 29116943, 30472346, 30659984		★☆☆☆☆ Found in Text Mining only
Inappropriate ACTH Secretion Syndrome	Inappropriate ACTH Secretion Syndrome	CTD_human_DG	16809932		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24064359	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10449430, 11244573, 12946210, 12946234, 19104705, 19714744, 20362587, 21068720, 21710534, 22276212, 23256116, 23949622, 24971461, 25634802, 29129670, 29494512, 31386886		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19104705, 20362587, 21245992, 24971461, 34075172, 39684781	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36364889	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29288652, 30642981		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11001753, 11924722, 14729856, 14981210, 15543562, 15784141, 16316841, 16412238, 16785159, 17011503, 17135601, 17141766, 17322631, 17986714, 18362424, 18776171, 19689798, 19745552, 19841271, 19966034, 20045799, 20368233, 20930717, 21443859, 21479595, 22102511, 22694222, 22791750, 22998375, 23145084, 23748472, 24447396, 24719315, 24759262, 25157153, 25274455, 25584717, 26615044, 27075119, 28208577, 28225792, 29256014, 30639037, 31194872, 33831079, 34186270, 34764936, 35422762, 37049846, 9425261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19816416, 20168312, 32455814, 9449686	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33843164	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	29984341		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30981079		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36972403, 37266623, 38041147	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	33048460	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	20385121		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	31658492		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	24489901	Stimulate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	30186819	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	21709632	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17359638, 19651920, 20127524, 24841086, 25659766, 26679678, 27264718, 28942553, 29475098, 30697628, 30852719, 31290457, 31577451		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	30318784		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	29550470		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	32165822	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30317563		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16291834, 22949934, 25122050, 25889595, 35946453, 37338602	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16687628, 17493550, 17681394, 22619290, 28182703, 29602395, 30682409		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	25784779, 28550474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	CTD_human_DG	28182703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	25784779, 26881045	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	20117134, 28931521, 30194582, 31024074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	20623750, 24011919, 24433871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	16115480, 25784779, 26881045, 27925431, 28550474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15916743		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	27080638	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	34224241	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	27664035		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	31371410	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPTIN DEFICIENCY OR DYSFUNCTION	LEPTIN DEFICIENCY OR DYSFUNCTION	BEFREE	26775807		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11431375, 21620794, 29331412, 30542286, 31371410		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12691917, 28978268	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17483060		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15642706, 20501850, 28978268	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15642706, 20501850, 34502231, 34549887	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10681562	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20501850, 23202735, 23934681, 28275008, 30542286		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukostasis	Leukostasis	CTD_human_DG	12468449		★☆☆☆☆ Found in Text Mining only
Leukostasis	Leukostasis	BEFREE	21480863, 21501146		★☆☆☆☆ Found in Text Mining only
Lichen planus follicularis	Lichen planopilaris	BEFREE	19052558, 29106928		★☆☆☆☆ Found in Text Mining only
Lichen planus follicularis	Lichen planopilaris	GENOMICS_ENGLAND_DG	19052558		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	27896820		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	12042669, 29606859, 30702114		★☆☆☆☆ Found in Text Mining only
Lipoatrophic Diabetes Mellitus	Lipoatrophic Diabetes Mellitus	BEFREE	22803842		★☆☆☆☆ Found in Text Mining only
Lipoatrophic Diabetes Mellitus	Lipoatrophic Diabetes Mellitus	ORPHANET_DG	24980513		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	30878493		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	12453919, 15254581, 15711581, 16246048, 16722806, 17227883, 17766367, 18076675, 19534662, 19727665, 20724579, 22803842, 23393388, 25157153, 27749844, 29488390, 30316815, 30742913, 30878493, 31135595		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	LHGDN	17356052		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	Pubtator	18076675, 21479595, 25157153, 27749844, 28208577, 34764936, 36402763	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	16412238, 18076675, 21479595, 22989829, 28300834, 29622583, 30595551, 31000363, 31194872, 34168618, 35422762, 36171144, 38231342, 39420889, 39596129	Associate	★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	CTD_human_DG	21123845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipoma	Lipoma	Pubtator	19772889	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	10097144, 10828883, 11494023, 12551936, 17468515, 28668397		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	10097144, 10984506, 21598240, 25650275, 26193637, 27401457, 8990192	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	LHGDN	18204431		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	27401457	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	31481505		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11343236, 14741344, 15150555, 16374840, 16775433, 17004092, 17506947, 19963130, 20512989, 22472110, 22472882, 23542179, 23640460, 23703729, 24126791, 24721996, 25387077, 25592041, 25836616, 27483249, 28063004, 28834734, 28857232, 28943966, 29510736, 29615720, 29656183, 31367864, 31512996		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	16374840		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15980055, 27787720, 28521870, 28590037, 30250040		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	17010940, 25159899, 27002005, 37059745	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	27002005	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	19673747		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40065360	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23891824, 30250040, 35422762	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11343236, 17004092, 22472110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	20143881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	18162602, 29695452, 29908181		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22426809, 22924744, 37792788	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15608671, 16716894, 19138979, 20081051, 20388757, 22463586, 31088909		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15799829, 16835228, 18055759, 18187557, 18516296		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15908479, 17172826, 22426809, 26244663, 26863638, 28460464, 31993929, 33414372, 36364935	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28639951		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23962407	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33584646	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28639951		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21415255, 27324555, 28639951		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28639951		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15274390	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26722456	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	16951334		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21837368, 29846633, 30647194		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27300265		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	11343236		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	22407012		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10506103, 10536181, 10715540, 10749129, 10996432, 11850224, 12186376, 12203367, 12439219, 12455057, 12615709, 12736714, 12866036, 12934104, 15073042, 15313896, 17348446, 17428620, 17639046, 17902047, 18288403, 19061500, 19298655, 19887620, 20054646, 20650001, 20734220, 21140205, 21349264, 21467033, 21498701, 21654191, 22301832, 22493352, 22583414, 22787115, 23130662, 23292282, 23372804, 23866026, 23906790, 23939428, 23964924, 24122391, 24293218, 24481326, 24564733, 25119466, 25422184, 25449421, 25645824, 26272430, 26686086, 27102200, 27556298, 27557380, 27865894, 27916422, 28396148, 28427429, 28669518, 28739725, 28769000, 29256014, 29566941, 29581787, 30224430, 30444720, 30474469, 31331908, 31799666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15608564		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12080324, 12324573, 27323819, 29221176, 29254243, 31267531		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16362414, 19118520, 27417252		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29866440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	16374840, 23041271, 24126791, 25592041, 28394260, 29436167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	20143881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11205925, 15866424, 15899809, 16199155, 17473186, 18187557, 19138979, 20081051, 21159608, 21922129, 22145026, 22463586, 22843091, 26216127, 26244663, 26863638, 27364335, 29137280, 29378193, 30858930, 31300983		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	27896820		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12934104, 16985067, 17032502, 21329655, 25944662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	11034103, 11741176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11078801, 11895107, 12107343, 12535639, 17085658, 19016747, 19436234, 25516658, 26299428		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10984506, 11034093, 12099579, 12609711, 12767049, 14571416, 14571417, 14977855, 15533897, 16763406, 17015477, 17089023, 17440964, 17453334, 19164938, 19528499, 19884383, 20477822, 20932825, 21170507, 21334870, 21613824, 23192983, 23746934, 23880210, 24189640, 24787994, 25669987, 25931782, 26788504, 26814431, 26887049, 26945682, 27357679, 27385003, 28099154, 28597850, 28800317, 29181019, 29222347, 29466694, 30250621, 31769890		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	11836575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29729928, 30118847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11044367, 14960510, 15492468, 16393309, 17763950, 18372284, 20568969, 24976296, 25516376, 25824760, 26225656, 26956036		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15492468, 19140230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11344222, 15238980, 15785241, 16187907, 16314832, 17188145, 18043251, 18502330, 18757431, 19147628, 21878896, 22984796, 23436219, 24811481, 26258321, 28008156		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10935488, 11485917, 16110031, 23088980, 23409107, 23522297, 28740126, 28923856, 29143738, 29483814, 30651555, 30845932, 30852032, 30912275, 31164653, 31358595, 31555390, 31772149		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10741718, 11343236, 11431375, 11511919, 11850224, 11900961, 11948134, 12099579, 12368298, 12439219, 12609711, 12615709, 12717389, 12767049, 12813462, 12866036, 14654945, 14960510, 15073042, 15277984, 15486348, 15492468, 15866424, 16187907, 16388966, 16393309, 16731769, 17188145, 17264754, 17390024, 17597617, 17611413, 18293083, 18757431, 18822385, 18927280, 19016747, 19018532, 19061500, 19118520, 19766907, 19782152, 19951697, 20191040, 20221637, 20371690, 20596649, 21283708, 21349264, 21449912, 21498701, 21620794, 21763631, 21765467, 21780947, 21818817, 21930124, 22053106, 22285815, 22761953, 23275339, 23748283, 23837487, 24133572, 24660968, 24882418, 24975132, 24976296, 24999478, 25043640, 25586304, 26036343, 26053275, 26999671, 27291250, 27528232, 27556298, 27896820, 28415688, 28597850, 28621837, 28677503, 28856793, 28881566, 28923856, 28948004, 29030979, 29080795, 29163813, 29222347, 29254243, 29258184, 29307852, 29331412, 29369787, 29454996, 29573200, 29628981, 29669721, 29721374, 29725405, 29791764, 29856104, 30012954, 30018246, 30047791, 30250621, 30542740, 30565896, 30755372, 30931956, 31331376, 31555078, 31555390, 31578185, 31799666		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15863131, 24716976, 27888104		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10449430, 11044367, 11494023, 11950812, 12269390, 12370429, 12475986, 12591919, 12946210, 12946234, 14634802, 14670614, 15073042, 15255176, 15342379, 15665104, 15860437, 15894676, 15911106, 16155208, 16327995, 16489531, 16849586, 17611675, 18203887, 18391483, 18704457, 19458067, 19551868, 20440859, 20510503, 22771328, 23516550, 23583560, 27417252, 27499265, 28007957, 28298922, 29472793, 30595551, 30931956, 9734398		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	20540935		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12779083, 12866036, 15254719, 15318936, 17902047, 17998334, 18293083, 18413760		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22583414, 25449421		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	12354743, 28467929		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18502330		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18502330		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18546270	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22407012, 24569090, 30607709		★☆☆☆☆ Found in Text Mining only
Meibomian gland dysfunction	Meibomian Gland Dysfunction	BEFREE	28219733		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	12230498, 16713673		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12230498, 16713673, 18172578, 18822385, 22863076, 28232477, 28962521, 29020973, 31138783, 31509504, 31516746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	12230498, 18172578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	12230498, 17352234, 18537861, 23049949	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	14512786, 28962521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	Melas syndrome	Pubtator	32244971	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27956741, 29730170, 30191781, 30864711		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16412273, 17259396, 19646655, 21605560, 21645960, 22509006, 23633103, 23666678, 24751522, 25931782, 26775807, 28059128, 29589839, 29883404, 30135298, 30323259, 30463189, 30639037, 30748020, 30914453, 30942395, 31534496, 31653699, 31825687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	LHGDN	17259396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic syndrome	Pubtator	17259396, 18777501, 22140563, 22426809, 23237621, 23636469, 24040456, 25159899, 25931782, 27773974, 29622583, 30639037, 32955223, 33729310, 37047733, 37108582	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	19589179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	18198294, 18362424, 18424599, 19639232, 19745552, 19806227, 20930717, 21289232, 21833030, 21918574, 21949049, 23145084, 23437214, 24200052, 25159899, 25366759, 26125830, 26673968, 29057944, 29315078, 30607268, 31188078, 32239932, 34186270, 35422762, 37761915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	12161548, 12601634, 12630956, 12788836, 15524180, 15667578, 15716267, 16186413, 16216916, 16314192, 16511590, 16916989, 17339535, 17356052, 17766367, 18362424, 18424599, 18959602, 19237017, 19534662, 19609844, 19639232, 19745552, 19805902, 21128828, 21156835, 21289232, 21605560, 21833030, 21877956, 22168210, 22475777, 23145084, 24200052, 24243083, 24373239, 24464185, 24819472, 25343273, 25366759, 26125830, 27898587, 27899484, 28101123, 28336108, 28608901, 28736228, 29057944, 29062573, 29115033, 29315078, 29964054, 30032428, 30256492, 30382123, 30618832, 30642114, 31009912, 31184312, 31678594		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	LHGDN	17351273, 18268966		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28108732		★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 7	Microphthalmia	Pubtator	27401457	Associate	★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	31481505		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29949879		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25122050, 27366949, 30231525	Associate	★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	24651066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Diseases	Mouth disease	Pubtator	19683227	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32519370	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28555877		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14975242, 18927280, 39769169	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15655377, 18927280, 28604257, 30553454		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17785586	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18927280		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16210596, 18977277, 25492529, 28483651, 28647405, 28905149, 28922099, 29659554, 29957391, 31718280		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20164187	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33297574	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	28978268		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17374881, 24980513, 26331539, 28026860, 28154092, 31648125, 31814555		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12663371, 16881538, 17921408, 22140576, 22653647, 23651165, 28177670, 28375162, 28647730, 29197071, 29522763, 29800789, 29862242, 30902059, 31298401, 31596946		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12663371, 16881538, 17921408, 18561518		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12663371, 16881538, 17921408, 19228871, 22525341, 22653647, 35757636	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19228871	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21536015, 27150726, 27264718, 27510704, 28744220, 31275366		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	39905475	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	20930717, 25784779, 32816832, 34764936	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30845774	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	32816832	Inhibit	★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	22293175, 31481505		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	16271155	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	31839751	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	15946122	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	27973471		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	27973471		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10097144, 10741718, 10873632, 10984506, 11034093, 11431375, 11494023, 11507074, 11836575, 11956653, 12006550, 12230498, 12370429, 12535639, 12606626, 12711249, 12714563, 12767049, 12866036, 12915690, 12960963, 13679209, 14627349, 14630051, 15008240, 15073042, 15238980, 15277984, 15313896, 15342379, 15483076, 15579048, 15824151, 15853832, 15886257, 15920699, 15930335, 16024620, 16314832, 16343104, 16489531, 16609007, 17085658, 17188145, 17201809, 17561883, 17611675, 17659359, 18187557, 18423377, 18502330, 18789822, 19061500, 19283612, 19724872, 19887620, 19934321, 20019843, 20043083, 20056739, 20062085, 20068562, 20081051, 20371684, 20427420, 20564403, 20596649, 21329655, 21596889, 21763631, 21837368, 22407012, 22463586, 22583414, 23041271, 23220503, 23436219, 23522297, 23583560, 23640045, 23738683, 23964924, 24133572, 24135138, 24240026, 24403067, 24603556, 24631504, 24976296, 26046131, 26122910, 26216127, 26299428, 26686086, 26814431, 26999671, 27292441, 27357679, 27483249, 27528232, 27797226, 27839516, 27865894, 28214826, 28410531, 28504924, 28534509, 28597850, 28881034, 28974683, 29137280, 29181019, 29221176, 29228682, 29256014, 29323103, 29350308, 29420754, 29669721, 29725405, 29729928, 29791764, 29866440, 30359265, 30400642, 30474469, 30666415, 30755372, 30845932, 31090452, 31111568, 31212694, 31311204, 31331376, 31367864, 31382450, 31512996, 31704817, 31799666		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30317563		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28886715, 29032144, 31263138		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11205925, 12596104, 15301425, 16969347, 20068562, 26887049, 28946859, 29018329, 30207204		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12079514, 15171682, 16969347, 19939254, 20564403, 35531888, 37918553	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22434581, 23129362, 23373812, 23406886, 23526793, 28942553, 28964868, 29162435, 29964054, 30759808, 30946848, 31131751		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31555078		★☆☆☆☆ Found in Text Mining only
Neuropathy, Painful	Neuropathy	BEFREE	30507781		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	22860094		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	16713673		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	28182703		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17704301, 20890895, 20929443, 21155004, 21939732, 22160635, 22820754, 23031808, 23269818, 23891820, 23891824, 24411941, 24697566, 26775807, 26858440, 27002005, 28300213, 28414138, 28521870, 28867301, 28965030, 29207650, 29550470, 30096951, 30171034, 30291215, 30561132, 30572788, 30793973, 30850637, 30851372, 31064820, 31569521, 31654717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11948134, 15608671, 15677767, 15908479, 19138979, 19147542, 20234816, 20234818, 20501643, 21664967, 22145026, 22684020, 28042952, 28803067, 30798928, 31263479		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	LHGDN	17535976		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	25474087, 29428719, 30561132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26317313, 29350308		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29228174		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10073956, 10690291, 10762291, 10843155, 10873398, 11079733, 11158005, 11242476, 11248748, 11511919, 11574398, 11832353, 11872365, 11900961, 11916956, 12395215, 12406034, 12643137, 12746759, 14671186, 14740316, 14981210, 15284449, 15725703, 15784141, 15860437, 15959859, 15972940, 15976135, 16007414, 16029943, 16108843, 16231017, 16311214, 16421345, 16474966, 16489531, 16652134, 16759305, 16777151, 17030965, 17052804, 17287921, 17408525, 17439324, 17624182, 17653445, 17898990, 17985660, 18177513, 18250615, 18280041, 18657264, 18728224, 18855061, 19645740, 19733160, 19760027, 19766907, 19913841, 19966034, 20651683, 20820194, 21135128, 21156835, 21479595, 21532596, 21643757, 21669017, 21795447, 21968139, 22102511, 22310664, 22391136, 22410809, 22653647, 23237621, 23239344, 23254958, 23273766, 23315125, 23666678, 24200052, 24411941, 24827746, 24969838, 25128964, 25182148, 25210844, 25502405, 25634802, 25784555, 25928419, 26185753, 26361038, 26368128, 26441241, 26577083, 26706782, 26775807, 26946260, 26990658, 27030533, 27072559, 27358237, 27442659, 27669202, 27773974, 27841948, 27899484, 28090739, 28123453, 28365247, 28414138, 28444662, 28481288, 28499669, 28539091, 28571979, 28625492, 28645738, 28651828, 28733963, 28736228, 28816006, 28822761, 28878369, 28915506, 29077158, 29215172, 29216352, 29233982, 29256014, 29383825, 29441829, 29508519, 29589839, 29721071, 29770757, 29890083, 29964054, 29984389, 30032428, 30122193, 30278161, 30348686, 30420515, 30463189, 30463291, 30545633, 30557642, 30599906, 30612469, 30625473, 30726580, 30742088, 30813929, 30857223, 30873215, 31044373, 31148857, 31152927, 31317231, 31531958, 31651513, 31653699, 9200661, 9421381, 9425261, 9449686		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	10873398, 11001753, 11591408, 11832353, 12429071, 14981210, 15533890, 15784141, 15830179, 15976135, 16007414, 16210701, 16421345, 16470700, 17052804, 17616777, 17653445, 17874829, 17898990, 18379566, 18388889, 18498634, 18657264, 18777501, 19351711, 19491387, 19816416, 19818126, 19846176, 19966034, 20054173, 20168312, 20814411, 21357378, 21448362, 21479595, 21508507, 21833030, 22023374, 22056417, 22102511, 22513296, 22653647, 22694222, 23237621, 23389305, 23545576, 23566279, 24200052, 24427296, 24759262, 24827746, 25224558, 25589532, 25595457, 25923461, 25928419, 26185753, 26273662, 26673968, 26912161, 27030533, 27442659, 27515755, 27664422, 27773974, 28090739, 28878369, 29256014, 29335416, 29679223, 30652031, 30931956, 31044373, 32455814, 32505733, 33729310, 33831079, 34459761, 34764936, 35292917, 36466447, 37047733, 37107672, 37742414, 37761915, 37800791, 39174891, 39457458, 9153284, 9425261, 9449686, 9750197	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	CTD_human_DG	11089532, 28242765		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	22797373, 28320058, 29065800	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	28541534, 30845774, 34762981, 35397570	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	UNIPROT_DG	9753710		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity Morbid	Obesity	Pubtator	21904299	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	29335416	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	18855061, 19491387, 19645740, 21904299, 22410809		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	10506103, 17453334		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	28761019, 29735636		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	29155481		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11840453, 21245597, 22455954, 23776688, 23884832, 35023382, 35288246	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	17386086, 24976683	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	18302252	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	16973789, 21245597, 39809203	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	17568789		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	39596129	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	30347434	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	31135556	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	20519122, 27631136, 28320453, 28678155, 28810524, 28983607, 29132091, 30457914, 31557368, 31606379, 31655621, 31760999		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	21104228, 21756892, 28122309, 28413478, 30190123, 30279140, 30574418		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12006550, 17075380, 20371684, 25586304, 31545293		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12006550, 36438897, 38217543	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35922782	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	15266333	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12934104, 15266333, 16985067, 17032502, 21329655, 25944662		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17032502		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15266333, 16698954, 17032502, 21283708, 23200915, 25659662	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15583697	Stimulate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16682954		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11034103, 11078801, 11895107, 12107343, 12535639, 17085658, 19016747, 19152448, 19436234, 25333644, 25516658, 26299428		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	17085658		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	11034103, 11741176		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	11554760, 12535639, 19016747		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15479693, 15754392, 19436234, 21357378, 25516658, 37857015	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16547153	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	16412238	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	22803842, 30570131		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	10958784, 17891228, 25069464, 25708358		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11344222, 12170088, 15238980, 16187907, 19755523, 20564403, 20578891, 22895275, 22961909, 23025542, 23436219, 23738683, 23966419, 23993207, 24327398, 24798894, 25069464, 26258321		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	15073042		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20926834, 25363075, 29338785, 29570770, 30223096, 30554092, 31132685, 31160540, 31349553		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27366949	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29871973		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	19569080		★☆☆☆☆ Found in Text Mining only
Partial lipodystrophy	Partial Lipodystrophy	BEFREE	12453919, 15464424, 15711581, 15855323, 17356052, 18076675, 22750678		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	19634985, 28733963, 29679223, 30897403		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28122331, 28751665	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	18372284, 20568969		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	LHGDN	18372284		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	18372284, 33399167	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	25855572		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	20450366, 23107193, 24494816, 28678155, 29574908, 31709625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	37047733	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35422762, 36741233	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	18538667		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29432661		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30104725		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	18423377		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	25468312		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	16201313		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	20062085		★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	CTD_human_DG	16809932		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	20210794, 22174924	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic kidney disease, type 2	Polycystic kidney disease	CTD_human_DG	20210794		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	19756375, 26911848, 28993480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	CTD_human_DG	20210794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Type 1 Autosomal Dominant Disease	Polycystic kidney disease	CTD_human_DG	20210794		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11836319, 12615821, 14671186, 15472214, 15853827, 16316841, 16600233, 16785159, 17141766, 17563058, 18680073, 19549442, 20045799, 20130411, 20406953, 20840271, 22349439, 22527903, 22564702, 22575725, 22729915, 22738153, 23550965, 23748472, 26975253, 28139539, 28235206, 28949260, 29306057, 29339197, 29359480, 29382850, 30546347, 30783446, 31412346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	12615821, 14671186, 16316841, 16600233, 16785159, 18680073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	16316841, 16785159, 21827375, 23748472, 24040456, 26975253, 28949260, 29630096, 33228780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28182703		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	16775170, 20123124		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29929914		★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	BEFREE	30362109		★☆☆☆☆ Found in Text Mining only
PPARG-related familial partial lipodystrophy	Partial Lipodystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16809887		★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	BEFREE	20606394		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15993441, 16407166, 30328325		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16988505, 21970714		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	15880426		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19218654		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	17561883		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	23559865, 25468312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	10984506, 11034093, 11212240, 12099579, 12609711, 12767049, 14571416, 14571417, 14977855, 15533897, 16763406, 17015477, 17089023, 17440964, 17453334, 19164938, 19528499, 19884383, 20477822, 20932825, 21170507, 21334870, 21613824, 23192983, 23746934, 23880210, 24189640, 24787994, 25669987, 25931782, 26788504, 26814431, 26887049, 26945682, 27357679, 27385003, 28099154, 28597850, 28800317, 29222347, 29466694, 30250621, 31769890		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10984506, 11044367, 18475308, 19528499, 20466759, 20932825, 21525782, 26788504, 26945682, 28800317, 33031638, 33780364, 38428827, 39273616	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11948965, 12767049, 17466258, 18789607		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12960963, 17015477, 26945682		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21613824, 25931782	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37171501	Stimulate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	33766508	Associate	★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	BEFREE	19052558		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	GENOMICS_ENGLAND_DG	19052558		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10815854, 16109743, 31148857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	10815854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	15083308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	33683743	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	31148857		★☆☆☆☆ Found in Text Mining only
Psychogenic Inversion of Circadian Rhythm	Circadian Rhythm Disorders	CTD_human_DG	22899986		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29228174		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	12805087, 17848583, 24044676, 28860566, 29434585		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20204748, 29146573, 29151490, 31023188, 31577451		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	25986483, 30081553, 30699358, 33907846, 34989130, 36947700, 37792788	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	18556801		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21044285, 24368768, 30118830, 35436029, 38059012	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	24569375, 29268377		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	18317437		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	20205597, 33422967	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29408570, 31074622		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	10815854		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	15860437, 15894676, 16489531, 17390024, 20440859		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	LHGDN	15894676		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30706710		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29866440		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11511919, 15916743, 16643621, 19951697		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27602490, 28973641, 31277592, 31815758		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CTD_human_DG	28182703		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	12594295	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15782399, 18806296		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28300834	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20971808, 23315497		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12165097, 23633103, 24697566, 27456070, 28978936, 30706710, 30981079		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	29151490		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	19801450, 22904198, 28680569, 29151490		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	LHGDN	11836575		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	17937104, 19070258, 24322444, 26641802, 30741559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	LHGDN	17937104, 19070258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	20564403		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35922782	Stimulate	★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	BEFREE	19052558		★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	GENOMICS_ENGLAND_DG	19052558		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19560328		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25433960	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31023710		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30033591		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	25986483	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	12028454	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	36735267	Associate	★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	27023591	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25559266, 26721185, 27023591, 28342874, 29055064, 30601406, 30981081		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	19016747, 28811575		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	30967578		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33584646	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	34243632	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	21508507, 25660813, 31044373	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28131740, 31044373		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31361024		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	39692554	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	28427429		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11494023, 13679209, 15930335, 27876017, 29725405, 29729928, 31212694		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15756430		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29625788		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12454768	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24917395, 31212694		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15716267, 16253638, 17484888, 18809223, 20890895, 20929443, 21236304, 21757225, 22940187, 26368128, 26564715, 26775807, 26858440, 27034954, 27799461, 28220523, 29062573, 29550470, 29656250, 29770757, 30171034, 30250040, 30566427, 31246177, 31287882, 31292134, 31364797, 31564684, 31707284		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11044367, 14960510, 15492468, 16393309, 17763950, 18372284, 19701967, 20568969, 24976296, 25824760, 26225656, 26956036		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	14759512	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10428487, 11044367, 12149143, 12824901, 14562367, 15492468, 18372284, 19140230, 23317272, 23605322, 23907334, 25590353, 25824760, 26225656, 29417935, 30880766, 33760104, 36587194	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14627349, 17763950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15492468, 19140230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	36587194	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	BEFREE	29155481		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21709632	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29162556, 29688151, 30762013, 30791908, 31010302		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	CTD_human_DG	29162556		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	29096320	Inhibit	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21072170, 24401602, 25547017, 25986483, 29996896, 30033591, 30825431		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	17255338		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	30738433		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	15130939	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	11994387, 14588098, 23604462, 26284551, 31415657		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	12651598, 15256783, 20056739, 33009242	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	15238980	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	15274390, 23025542, 23436219, 24327398, 24798894, 26649796, 27494611, 34645125, 35292786, 35397361	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	CTD_human_DG	15785241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, follicular	Thyroid cancer	BEFREE	19883731, 20056739, 21763631, 27618325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10958784, 11344222, 15238980, 15785241, 15972966, 16187907, 16314832, 17188145, 18043251, 18502330, 18757431, 19147628, 21878896, 22984796, 23436219, 23738683, 24811481, 25069464, 26258321, 27268919, 28008156, 29373711		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	15785241		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	12495476, 25742642, 29924913	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	15238980, 17651453, 21983636, 22961909, 25209362, 25487739		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	15785241		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Metabolism Abnormal	Thyroid hormone metabolism disorder	Pubtator	27920511	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11344222, 12170088, 12970322, 14654945, 15238980, 15362967, 15785241, 16314832, 17188145, 18043251, 18502330, 18757431, 19147628, 19724872, 19963130, 21878896, 22179975, 22984796, 23100233, 23436219, 24811481, 25999051, 26258321, 28008156		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15299084, 15785241, 16219715, 16352687, 18509005, 18757431		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	15785241		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12651598, 15238980, 23436219, 24114184, 24510380, 24798894, 26258321, 26259532, 26695504, 29373711, 34167437, 35292786, 35397361, 38277563, 39187346	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	33009242	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	16187907, 20056739, 24074409, 24798894		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	29469940, 39187346	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	28514232		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29197071, 31596946		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12615821		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21930124, 29021293		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33650675, 37478577	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36114448, 40604951	Inhibit	★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	15886257		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12730867, 19104705, 19714744, 21710534, 23256116, 23651165, 23949622, 24971461, 25053717, 26462859, 28446747, 28928735, 29529198, 30472831		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	12730867, 17151549		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10935488, 23114535, 27699256, 33537076, 35850179, 36131343, 36323682, 36542958, 37800791, 38129585	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30651555	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	20631015	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24642720, 24716976, 25563418, 40446016	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	17893092, 20198337		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	23206928	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29338785, 31741264		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	30556158		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10073956, 24107399, 28674038, 29735632, 31258698		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	11717164, 12457461, 14572662, 15130939	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	11872366		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	34369277	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28821956, 30914453		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	14718259	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	28336108		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	29145845		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	36429011	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	29145845		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	28811575		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	29202114		★☆☆☆☆ Found in Text Mining only