INS (insulin)

Gene

• Entrez ID: 3630
• Gene name: Insulin
• Gene symbol: INS
• Synonyms (NCBI Gene): IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10, PNDM4
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440450	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440449	hsa-miR-544a	HITS-CLIP	24374217
MIRT440448	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440449	hsa-miR-544a	HITS-CLIP	24374217
MIRT440448	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440450	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440449	hsa-miR-544a	HITS-CLIP	24374217
MIRT440448	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440449	hsa-miR-544a	HITS-CLIP	24374217
MIRT440448	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT735403	hsa-miR-24-3p	qRT-PCR	32226248

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Activation	21278380
ATF2	Unknown	10909971
GLIS3	Unknown	23856252
KLF11	Activation	18593768
KLF11	Unknown	15774581;18199129;21592955
MAFA	Unknown	16461554;21830322
NEUROD1	Unknown	10545951;16461554
NR1H4	Activation	20060466
PAX4	Repression	17426099
PAX4	Unknown	10601637
PDX1	Activation	7568086
PDX1	Unknown	10426567;10567373;10585868;20886630
TCF3	Unknown	10567574;9665477

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001819	Process	Positive regulation of cytokine production	IDA	15473891
GO:0002020	Function	Protease binding	IPI	20082125
GO:0002674	Process	Negative regulation of acute inflammatory response	IDA	11443198
GO:0005158	Function	Insulin receptor binding	IBA
GO:0005158	Function	Insulin receptor binding	IDA	7556975, 9667398
GO:0005158	Function	Insulin receptor binding	IPI	8452530
GO:0005159	Function	Insulin-like growth factor receptor binding	IPI	8452530
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IC	9667398
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	IMP	381941
GO:0005179	Function	Hormone activity	NAS	14986111
GO:0005515	Function	Protein binding	IPI	9388210, 9773776, 17051221, 23302862, 29512653, 29764935, 32296183
GO:0005576	Component	Extracellular region	IC	7556975
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9667398
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	12881524
GO:0006953	Process	Acute-phase response	IDA	14739855
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	9092559
GO:0007267	Process	Cell-cell signaling	IC	7556975
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	7688386, 17925406
GO:0008286	Process	Insulin receptor signaling pathway	IDA	8440175, 38056462
GO:0008286	Process	Insulin receptor signaling pathway	IDA	8702995, 15792832, 20455999
GO:0008286	Process	Insulin receptor signaling pathway	IGI	19727662
GO:0008286	Process	Insulin receptor signaling pathway	IMP	14615391
GO:0010628	Process	Positive regulation of gene expression	IGI	25403480
GO:0010629	Process	Negative regulation of gene expression	IDA	31501273
GO:0010750	Process	Positive regulation of nitric oxide mediated signal transduction	IDA	15792832
GO:0010750	Process	Positive regulation of nitric oxide mediated signal transduction	IMP	14615391
GO:0010976	Process	Positive regulation of neuron projection development	IC	36250347
GO:0010976	Process	Positive regulation of neuron projection development	IDA	36250347
GO:0030133	Component	Transport vesicle	TAS
GO:0030307	Process	Positive regulation of cell growth	NAS	11742412
GO:0030335	Process	Positive regulation of cell migration	ISS	12138094
GO:0031904	Component	Endosome lumen	TAS
GO:0032880	Process	Regulation of protein localization	IDA	14615391
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	IDA	14744991
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0042060	Process	Wound healing	IDA	9498508
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	15185208
GO:0042311	Process	Vasodilation	IDA	14744991
GO:0042311	Process	Vasodilation	NAS	12946932
GO:0042593	Process	Glucose homeostasis	IBA
GO:0042593	Process	Glucose homeostasis	IMP	381941
GO:0042802	Function	Identical protein binding	IPI	17472440, 20738396, 22854022, 23106816, 23416304, 23510797
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	19727662
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	11500939, 20455999
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11742412
GO:0045721	Process	Negative regulation of gluconeogenesis	NAS	11742412
GO:0045725	Process	Positive regulation of glycogen biosynthetic process	IDA	17925406
GO:0045727	Process	Positive regulation of translation	IMP	28106072
GO:0045818	Process	Negative regulation of glycogen catabolic process	IMP	381941
GO:0045821	Process	Positive regulation of glycolytic process	IDA	7688386
GO:0045821	Process	Positive regulation of glycolytic process	IMP	381941
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10644978, 11500939
GO:0045922	Process	Negative regulation of fatty acid metabolic process	IMP	1184755
GO:0046326	Process	Positive regulation of D-glucose import	IDA	14615391, 15792832
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	IDA	7688386
GO:0046631	Process	Alpha-beta T cell activation	IDA	10604997
GO:0046889	Process	Positive regulation of lipid biosynthetic process	NAS	11742412
GO:0048018	Function	Receptor ligand activity	IDA	8702995
GO:0048167	Process	Regulation of synaptic plasticity	TAS	19188609
GO:0050708	Process	Regulation of protein secretion	IDA	15591776
GO:0050709	Process	Negative regulation of protein secretion	IDA	14739855
GO:0050714	Process	Positive regulation of protein secretion	IBA
GO:0050890	Process	Cognition	TAS	19188609
GO:0050995	Process	Negative regulation of lipid catabolic process	IMP	24675707
GO:0050995	Process	Negative regulation of lipid catabolic process	NAS	11742412
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	NAS	12135947
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	7688386, 8702995, 11500939, 25240198
GO:0055089	Process	Fatty acid homeostasis	IMP	1184755
GO:0060266	Process	Negative regulation of respiratory burst involved in inflammatory response	IDA	11443198
GO:0060267	Process	Positive regulation of respiratory burst	IDA	9092559
GO:0090277	Process	Positive regulation of peptide hormone secretion	TAS	11387233
GO:0090336	Process	Positive regulation of brown fat cell differentiation	TAS	11387233
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	20455999
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	TAS	19188609
GO:1901701	Process	Cellular response to oxygen-containing compound	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	NAS	16604263
GO:1902952	Process	Positive regulation of dendritic spine maintenance	IGI	19188609
GO:1903076	Process	Regulation of protein localization to plasma membrane	IGI	19188609
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IGI	19188609
GO:1990535	Process	Neuron projection maintenance	IGI	19188609
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	39032648
GO:2000252	Process	Negative regulation of feeding behavior	IDA	17957153

Other IDs

• MIM: 176730
• HGNC: 6081
• e!Ensembl: ENSG00000254647

Protein

• UniProt ID: P01308
• Protein name: Insulin [Cleaved into: Insulin B chain; Insulin A chain]
• Protein function: Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.
• PDB: 1A7F, 1AI0, 1AIY, 1B9E, 1BEN, 1EFE, 1EV3, 1EV6, 1EVR, 1FU2, 1FUB, 1G7A, 1G7B, 1GUJ, 1HIQ, 1HIS, 1HIT, 1HLS, 1HTV, 1HUI, 1IOG, 1IOH, 1J73, 1JCA, 1JCO, 1JK8, 1K3M, 1KMF, 1LKQ, 1LPH, 1MHI, 1MHJ, 1MSO, 1OS3, 1OS4, 1Q4V, 1QIY, 1QIZ, 1QJ0, 1RWE, 1SF1, 1SJT, 1SJU, 1T0C, 1T1K, 1T1P, 1T1Q, 1TRZ, 1TYL, 1TYM, 1UZ9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00049	Insulin	28 → 109	Insulin/IGF/Relaxin family	Domain

• Sequence:

  MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAED
  LQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN

• Sequence length: 110

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Oocyte meiosis
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Regulation of actin cytoskeleton
Insulin signaling pathway
Insulin secretion
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Prolactin signaling pathway
Regulation of lipolysis in adipocytes
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Type I diabetes mellitus
Maturity onset diabetes of the young
Aldosterone-regulated sodium reabsorption
Alzheimer disease
Prostate cancer
Diabetic cardiomyopathy

Reactome:

Insulin processing
Synthesis, secretion, and deacylation of Ghrelin
COPI-mediated anterograde transport
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
IRS activation
Signal attenuation
Insulin receptor signalling cascade
Signaling by Insulin receptor
Insulin receptor recycling
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Amyloid fiber formation

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
Amyotrophic lateral sclerosis, susceptibility to, 24	Pathogenic	rs748749585	RCV005861117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus	Pathogenic	rs748749585	RCV004798837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus type 1	Likely pathogenic; Pathogenic	rs121908261	RCV003445069	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus, permanent neonatal 4	Likely pathogenic; Pathogenic	rs757124361, rs797045623, rs28933985, rs80356663, rs80356668, rs80356666, rs80356669, rs748749585, rs397515519	RCV002492128 RCV003445689 RCV005042049 RCV001089455 RCV001089456 RCV001089452 RCV001089453 RCV002496902 RCV005044743 RCV005042172	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperproinsulinemia	Likely pathogenic; Pathogenic	rs757124361, rs148685531, rs80356668, rs28933985, rs748749585, rs397515519	RCV002492128 RCV000014306 RCV000014307 RCV000014310 RCV000014313 RCV000014315 RCV002496902 RCV005044743 RCV005042172	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INS-related disorder	Likely pathogenic; Pathogenic	rs1225892123, rs2495746594, rs28933985, rs121908261, rs80356669, rs748749585	RCV003402304 RCV003404625 RCV003407328 RCV004752705 RCV004730851 RCV003419839	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 10	Likely pathogenic; Pathogenic	rs2133676660, rs757124361, rs886037863, rs28933985, rs748749585, rs397515519	RCV002466269 RCV002492128 RCV000240176 RCV005042049 RCV002496902 RCV005044743 RCV005042172	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs121908261	RCV003987320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal diabetes mellitus	Likely pathogenic; Pathogenic	rs2133672883, rs2133672778, rs2133672742, rs1564912274, rs1278232284, rs80356668, rs80356666, rs80356669, rs80356663	RCV002052029 RCV002052030 RCV002052031 RCV002052032 RCV002052033 RCV002051785 RCV000030069 RCV002051790 RCV000030071	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal insulin-dependent diabetes mellitus	Likely pathogenic; Pathogenic	rs145038693, rs797045623	RCV002464669 RCV002464141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Permanent neonatal diabetes mellitus	Pathogenic; Likely pathogenic	rs797045623, rs80356663, rs80356668, rs80356666, rs80356669, rs748749585, rs397515519	RCV000193144 RCV000014320 RCV000014321 RCV000020204 RCV000020207 RCV000055788 RCV000055787 RCV000055785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 1 diabetes mellitus 2	Likely pathogenic; Pathogenic	rs757124361, rs28933985, rs121908261, rs748749585, rs397515519	RCV002492128 RCV005042049 RCV000014324 RCV002496902 RCV005044743 RCV005042172	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Pathogenic	rs80356666	RCV003445080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q13.3 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARREST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PERSISTENT HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO AUTOIMMUNE PROCESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO IMMUNE MEDIATED PANCREATIC ISLET BETA-CELL DESTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, KETOSIS-PRONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 4	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, 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 RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	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
HEPATITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKALEMIA	—	CTD	★★☆☆☆ 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
HYPERTRIGLYCERIDEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DIABETES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED PERMANENT NEONATAL DIABETES MELLITUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES, CYSTIC	—	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
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARESTHESIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTASSIUM DEFICIENCY DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOLYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELOMERIC 22Q13 MONOSOMY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Neonatal Diabetes, Dominant/Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSITORY NEONATAL DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR OUTFLOW OBSTRUCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	CTD_human_DG	18948358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	9492113		★☆☆☆☆ Found in Text Mining only
Acidosis Lactic	Lactic acidosis	Pubtator	31630688	Associate	★☆☆☆☆ Found in Text Mining only
Acidosis Lactic	Lactic acidosis	Pubtator	34419042	Stimulate	★☆☆☆☆ Found in Text Mining only
Acrania	Acrania	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	LHGDN	17652220		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	26087292, 33019423	Stimulate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	34929488	Associate	★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	12243603		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	14679083, 9034788		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23389729		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17652220, 18283256		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29399966		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	1702931	Associate	★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	9264093		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	31519934		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12185156, 12507914, 17613531, 18430999, 18612998, 19625744, 20405009, 21115952, 21411544, 22235132, 22297646, 22476197, 22571978, 22982105, 24088404, 24196233, 24265728, 24346217, 26010513, 26214150, 26297026, 27079723, 28050343, 28105773, 28230058, 28550261, 28922161, 29154275, 29945658, 30056117, 30768625, 30775986, 31081340, 31270305, 31635074, 33865867, 35165256, 35253743, 35974022, 35996309, 36070700, 36744339, 37108578, 9366728	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23507773, 26036653, 26444783, 30383799	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	1871764		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	11272184		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28108221		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	35021220	Inhibit	★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	31508506	Associate	★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	32198016	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	30334364	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	32920595	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	17705672, 35165256	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	32920595	Inhibit	★☆☆☆☆ Found in Text Mining only
Anovulation	Anovulation	Pubtator	25595199	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	15139733	Stimulate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14563448, 29040868, 29226576, 30205366		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	19262007	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	36403012	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	25642424, 28599074	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	26606753	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	11443108, 22525426, 23811853, 29430577, 34051802, 35129650, 9081122	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	12378388, 12946932		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14563448, 29040868, 29226576, 30205366		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	15100091	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22265870	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	36674557	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	14679083		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35165256	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	14679083, 19375382		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	32950058	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35165256, 36862688	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21980499		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31347308	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	26216854		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10051018, 11175794, 12750767, 14679083, 15008838, 15372359, 15561961, 15592805, 15699505, 16025255, 16046318, 16412690, 17125142, 18558477, 19040615, 19188433, 1935920, 2057168, 2127392, 22357962, 23721563, 24844227, 26073034, 26206289, 26634551, 2664347, 27048654, 28472070, 30622969, 31365591, 6680497, 7400884, 7988484, 8063040, 8098691, 8106272, 8222374, 8454115, 8533167, 8742569, 8847232, 8879452, 8971078, 9000690, 9015668, 9034788, 9250448, 9519758, 9844045, 9892247		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	1719540, 20876716, 27048654, 30979797	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	19912253	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	10051018		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	LHGDN	15928253		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27394663		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	34684639	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	19351735, 29175121	Associate	★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	18375961	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	18375961		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	18375961	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	1973904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21302346, 23253673, 23619527, 24878678, 26077424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	35165256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	5506046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	18614853	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	17127486	Stimulate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	22688337	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	24584741	Inhibit	★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	23839870	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21995288	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23028511, 31630688	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	24332562	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	28263224	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	17506723	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17348446, 28478612		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	1070004, 15922332, 16491398, 19865540, 20068169, 21437235, 2174437, 23877285, 24131755, 24422628, 25701261, 26281834, 27364358, 27415018, 28038446, 28631569, 29486734, 30092829, 30229539, 30277539, 30936085, 31480557, 31771180, 31958132, 32631390, 32733384, 34456877, 34841688, 35082309, 35403707, 35580079, 35672854, 37004031, 37461077, 38036052, 698040, 8286193, 9545345	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27388232, 28427228, 31292496	Stimulate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	20620209		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	31876736	Associate	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	18704987, 37014770	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	17056676	Stimulate	★☆☆☆☆ Found in Text Mining only
Camptodactyly 1	Camptodactyly	Pubtator	39515123	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27125830, 27842582, 28592245	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11390373, 12606056, 12918099, 21464041, 2469133, 2475498, 24895527, 25945652, 26756219, 27514687, 2878937, 29414761, 3040466, 32210717, 36156098, 36773462, 37328795, 39344752, 7562058, 8864852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	7683658	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	19571666, 19878864, 23159620, 28521289, 34061869, 34202040, 39231457, 40443651	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40244011	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30605491	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28600985	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	25702040, 35912794	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	26100928	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	14647894, 16418168, 17351274, 19455304, 21951953, 22185674, 22468791, 27133621, 28219664, 29893513, 30857250, 32150081, 37329449, 38268038	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22468791, 29040868		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32406318	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	LHGDN	18216377		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26549531	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	17149363	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	26530398, 28480495		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	14679083, 19073967, 8737029, 9259281		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	17506723	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	31015020		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	18478238	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	11953210		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	9474075		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	35260800	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	3537011	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	26181853	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10099885		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	36060975	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	18612998, 21951953, 24660790, 26134514, 28050343, 29945658, 30965038	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	17661009, 18612998, 30775986, 35076713, 36744339	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	18430999, 22571978	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	23507773	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35260800	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12007784, 27273097	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	1973904		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17914103		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18478343, 19773552, 20622004, 21999454, 22354904, 22554284, 22558377, 23877285, 24175768, 24184209, 24441198, 25557790, 28268248, 29793481, 30649085, 30726946	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27842582	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35048991	Stimulate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	CTD_human_DG	2991050, 3511099, 4019786, 6382002		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21517693	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34035238	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	34153873	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	11228046, 11395395, 12588953, 12621037, 16899796, 18285554, 19417036, 19720803, 20019678, 20357370, 21536946, 21836102, 21968111, 23266803, 23563683, 23869231, 24584741, 26339388, 26799617, 28102591, 28532504, 28600547, 29901727, 31218401, 31371265, 31577849, 32027664, 33679602, 33762279, 33910593, 34497584, 36239000, 37974153, 38033998, 7847376, 8751851, 9280302, 9312191, 9769320	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	17184146, 36876056	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	21968108, 30261196, 34380013	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	15628829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Diseases	Corneal disease	Pubtator	15037573	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18501121, 21873549		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12850828, 17351274, 17551966, 24489861, 26253791, 31835296, 35260800	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21873549, 24489861, 8635646		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25696117	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21633404	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	14749349, 21873549		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	16075063, 18052686, 22018099	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	18056792	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35260800	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	36316863	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23952705, 26547591, 29249670, 29434062, 31697830, 32433667, 33586024, 34836301, 37503734, 6345593	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	2792577		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	CTD_human_DG	9879822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	CTD_human_DG	9879822		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	27966441, 8121460	Associate	★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	CTD_human_DG	21911655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	27079723, 37420130, 37778510	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30768625	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	22571978	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	5506046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	11016895		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19346733	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	20161799, 27447786, 30308579, 30965038, 35165256	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10347771, 10447260, 10462269, 10778862, 10905500, 10907126, 11070077, 11130726, 11272184, 11327715, 11409713, 11502799, 11978587, 12031988, 12097339, 12502511, 12727928, 12952878, 14679078, 14722650, 15046555, 15703765, 15834700, 16211374, 16276008, 16306346, 16644867, 17127405, 17551474, 18162506, 18171712, 18279373, 18558477, 18621093, 18662362, 18692115, 19050246, 19183934, 19758361, 19817801, 20007936, 20034470, 20484136, 20535137, 20724178, 21346176, 21518407, 21814547, 22357962, 22701567, 22831748, 22928559, 22957706, 23050777, 23350652, 23380813, 24192345, 24281154, 24281155, 24399617, 25542748, 25721872, 25862998, 26101329, 26350612, 26530398, 26784909, 26822090, 26997281, 27069933, 27398945, 2792577, 28368485, 28478482, 28615632, 28840257, 29207974, 29377149, 29578255, 29890547, 29967002, 29972779, 30230182, 30230185, 30242601, 30284409, 30416020, 30530850, 30626610, 30693639, 30915639, 31074785, 31158417, 31184302, 31184304, 31300553, 31587057, 31695065, 31821343, 3286344, 3460220, 7556950, 7736895, 7773292, 7821172, 8050186, 8056189, 8314006, 8335179, 8582133, 8646554, 8737029, 8739920, 8816978, 8845059, 8889233, 8971078, 8988536, 9000690, 9015668, 9054945, 9105898, 9171256, 9212310, 9228925, 9313751, 9440474, 9519723, 9609365, 9649955, 9768375, 9773722, 9773728, 9844045		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	27802092	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	32847960, 36701305	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	11832353, 20948967, 22808198, 24606082, 26494027, 26710791, 27406815, 28503212, 29959933, 30477160, 32993411, 33767671, 40147358	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	17317761, 21515851, 22308218, 22893718, 23209187, 24030069, 24665145, 25512553, 26584065, 26710791, 26921319, 27981520, 28360945, 28919328, 30257980, 30919529, 30953560, 31969632, 31978117, 32079298, 32144130, 32365792, 32407388, 33232364, 33859622, 34518156, 34763465, 34989285, 35449053, 35613088, 35893051, 35926094, 39408904, 39684804	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27736899, 31542245, 37264354, 40004118	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10347771, 10447260, 10462269, 10778862, 10905500, 10907126, 11070077, 11130726, 11272184, 11327715, 11409713, 11502799, 11925627, 11978587, 12031988, 12097339, 12502511, 12727928, 12952878, 14563448, 14679078, 14722650, 15046555, 1516482, 15703765, 15834700, 16211374, 16276008, 16306346, 16644867, 16792463, 17127405, 17551474, 18072012, 18162506, 18171712, 18279373, 18558477, 18621093, 18662362, 18692115, 1871764, 19050246, 19183934, 19251033, 19395706, 19758361, 19817801, 20007936, 20034470, 20106974, 20484136, 20535137, 20724178, 21346176, 21518407, 21814547, 22033917, 22357962, 22468791, 22701567, 22831748, 22928559, 22957706, 23050777, 23350652, 23380813, 23669362, 24192345, 24281154, 24281155, 24399617, 25542748, 25721872, 25862998, 26101329, 26350612, 26530398, 26784909, 26822090, 26997281, 27069933, 27398945, 2792577, 28368485, 28478482, 28615632, 28840257, 28859925, 28920918, 29207974, 29377149, 29578255, 29857981, 29890547, 29967002, 29972779, 30230182, 30230185, 30242601, 30284409, 30416020, 30530850, 30626610, 30693639, 30915639, 31074785, 31158417, 31184302, 31184304, 31300553, 31587057, 31642094, 31695065, 31821343, 3286344, 3460220, 6341209, 7556950, 7736895, 7773292, 7821172, 7951555, 8050186, 8056189, 8314006, 8335179, 8582133, 8646554, 8737029, 8739920, 8816978, 8845059, 8889233, 8894492, 8971078, 8988536, 9000690, 9015668, 9054945, 9105898, 9171256, 9212310, 9228925, 9313751, 9440474, 9519723, 9609365, 9649955, 9768375, 9773722, 9773728, 9844045		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	10810087, 11070077, 11238556, 12028454, 12118200, 12145235, 12226552, 12537604, 12952878, 1353534, 13967777, 14647894, 15010337, 15037573, 15046555, 15932520, 1601997, 16276008, 16467597, 16814735, 16864906, 17056676, 17137336, 17613531, 17855560, 17903298, 18084116, 18176722, 18271689, 18451997, 18567820, 18647954, 18719643, 18802479, 18840770, 1899928, 19008344, 19020324, 19121768, 19121992, 19183934, 19296077, 19571666, 19656320, 19741193, 20007936, 2002494, 2002627, 20056952, 20106974, 20133622, 20185809, 20339196, 20368233, 20462406, 20522167, 20522590, 20547533, 20548773, 20948967, 21137020, 21336277, 21349175, 21669045, 21713316, 21814547, 21865331, 21871827, 21904299, 21953423, 22033917, 22164267, 22185674, 22476197, 22525426, 22558111, 22584727, 22815030, 23308243, 23350652, 23423694, 23462698, 23551881, 23759396, 23826383, 23952705, 24030943, 24083371, 24324748, 24441198, 24521217, 24671046, 25002580, 25086207, 25157406, 25213455, 25370850, 25524915, 25562486, 25562888, 25618333, 25641314, 26101329, 26103160, 26193220, 26202599, 26273670, 26418361, 26426397, 26525881, 26530398, 26615044, 26887289, 26948978, 27177031, 27399229, 27401534, 27466884, 27535125, 27720726, 27966441, 27981520, 27998387, 28034763, 28111849, 28254226, 28271591, 28272210, 28410371, 28521289, 28542303, 28594910, 28607108, 28712214, 28757432, 28758130, 28789618, 28919328, 29034901, 29081341, 2908729, 29157981, 29246973, 29256855, 29401509, 29486734, 29712868, 30092829, 30251567, 30276744, 30414308, 30503261, 30533028, 30774850, 30931946, 30969375, 3113537, 31176671, 31196892, 31234367, 31362984, 31499737, 31605659, 31676859, 31882596, 31988329, 32001615, 32059761, 32077075, 32098630, 32182220, 32345350, 32361463, 32460030, 3280182, 32814719, 33145960, 33198821, 33345910, 3339124, 33446570, 33551986, 33759360, 33767265, 33776919, 34153873, 34245311, 34257700, 34290145, 34352411, 34354158, 34380694, 34415483, 34600296, 34609028, 34792267, 34850014, 34952193, 35069438, 35077398, 35247066, 35260800, 35297680, 35299958, 35299972, 3537011, 35504843, 35518939, 35595809, 35651332, 35665752, 35742925, 35803018, 35855056, 35955956, 35956419, 35963866, 36150054, 36251483, 36280617, 36313763, 36329547, 36368478, 36418577, 36496541, 36529747, 36749274, 36749929, 36768715, 36815184, 36964318, 37123136, 37158952, 3722372, 37280435, 37288664, 37365285, 37453421, 37512131, 38032738, 38061968, 38172847, 38213994, 38304198, 38360088, 3921105, 39461404, 40026692, 4024089, 40305339, 6171128, 6312455, 6340470, 6419838, 6424111, 6759208, 7858104, 8121460, 8325892, 8416266, 8421693, 8755631, 8941652, 8981925, 9078243, 9081122, 908763, 9120002, 9218523, 9617861, 9625453, 9844045, 9845654, 990715	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	11446671, 15628829, 17855560, 18162506, 2055425, 7294224, 7624867, 8400068		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	12037147, 15654602, 17417692, 18556337, 20153489, 20724797, 21517693, 22332874, 23762265, 24131755, 25642774, 26965843, 27759896, 28436541, 28758947, 29131315, 29546061, 30383799, 31012517, 31196892, 31256036, 31740700, 31756165, 33250457, 33767671, 34083567, 34420950, 34654408, 34890117, 34937509, 35222269, 35498407, 35784546, 36422510, 37251668, 39515123, 40244011, 40420722	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes Mellitus	LHGDN	15367890, 18662362, 18981553		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	27133621, 31630688, 38250713	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Congenital Autoimmune	Diabetes mellitus	Pubtator	35010780	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Neonatal with Congenital Hypothyroidism	Neonatal diabetes mellitus	Pubtator	20007936	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	15115830, 21273495, 22672870, 27033559	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	18162506, 18451997, 20220270, 20226046, 23050777, 23350652, 24138066, 30503261, 31908791, 36414599, 36686471	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	15115830, 23223019, 23456528, 25015100, 35612844	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	16268330, 17855560, 18162506, 20133622, 25497100, 26530398, 28083968, 29624227, 31605659, 31908791, 35069438, 36686471, 38360088	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10433097, 10775523, 10893317, 11070077, 11238556, 11507694, 11598829, 11790888, 11872691, 12606056, 1353534, 1370298, 14639528, 15115311, 15303408, 15314696, 15543206, 15889096, 15914531, 15932520, 16260488, 16276008, 16519819, 16570164, 16864906, 17053071, 17284223, 17473382, 17508343, 18084116, 18310307, 18556337, 18620562, 18840770, 19141582, 19167443, 19584681, 19956106, 20054344, 20357361, 20622162, 20628762, 20876716, 20948967, 21247498, 21584225, 21998398, 22162761, 22332874, 22357962, 22415876, 22446173, 22563461, 22567146, 23183535, 23403945, 23423694, 23473037, 23628620, 23803704, 23935095, 24340836, 24498006, 24844227, 25405207, 25562486, 25652388, 25669159, 26101329, 26216854, 26273670, 26405066, 26457418, 26513234, 26519333, 26615044, 26714416, 26856418, 26923214, 26981545, 27048654, 27240324, 27490775, 27506584, 27575603, 28263224, 28418115, 28526919, 28729721, 28877460, 28919263, 28941965, 29175121, 29300921, 29343548, 29404672, 29491866, 29597128, 29619531, 29851415, 29880650, 30092829, 30265185, 30352895, 30845908, 30953560, 30969375, 31264970, 31438962, 31442418, 31558459, 31775218, 31808541, 31913467, 31931479, 32061050, 32573495, 32634859, 32787907, 3280182, 32882526, 32959070, 3301484, 33033923, 33035311, 33154504, 33277338, 33419759, 33515070, 33542414, 33761612, 33813508, 33859325, 34083567, 34300672, 34326068, 34369627, 34720091, 35396829, 35404688, 35462792, 35499624, 35587468, 35742925, 35864094, 36282337, 36341551, 36368478, 36497105, 36701305, 36817429, 37188763, 37647325, 37724526, 37751304, 38161208, 39286976, 39522051, 39613428, 7573054, 7858104, 7909987, 7915880, 7977341, 7977386, 8121460, 8200980, 8301143, 8370928, 8447318, 8513574, 9556351, 9603916, 9844045	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	15628976, 17883705, 20197308, 22401332, 24172699, 25642774, 26440526, 28380011, 29754174, 30352048, 31232620, 31256036, 31511930, 31756165, 32847960, 33837025, 34890117, 35155683, 35552392, 35918735, 36316084, 36920867, 37864241	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30970177	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10064105, 10347805, 10545531, 10947884, 11012908, 11118017, 11422660, 12118200, 12145235, 12369726, 12591951, 14551916, 14742839, 15233628, 15319170, 15337174, 15517149, 1569197, 15949705, 16089501, 16229747, 16814735, 16920849, 17227768, 17460697, 17551966, 17786204, 17971425, 18084116, 18162503, 18271689, 18310307, 18449463, 18496642, 18567820, 18647954, 18654034, 18719649, 18720028, 18772361, 18846047, 18985156, 19008344, 19033397, 1915117, 19183934, 19197265, 19211816, 19228808, 19258739, 19296078, 19324940, 19366866, 19430760, 19502414, 19504086, 19516902, 19570552, 19571666, 19581418, 19668377, 19773552, 19808892, 19903754, 20007936, 2002494, 20028940, 20182859, 20200314, 20226046, 20368233, 20390405, 20490451, 20581827, 20644627, 20701788, 20977574, 21099291, 21137020, 21181894, 21197403, 21234863, 21267535, 21325017, 21373834, 21484216, 21709297, 21760887, 21775499, 21828339, 21850561, 21917432, 21922457, 22114711, 22266116, 22403629, 22424623, 22457223, 22491740, 22510711, 22688337, 22688542, 22961080, 23257734, 23263489, 23308243, 23349674, 23369358, 23386398, 23468892, 23565163, 23715754, 24062323, 24086540, 24186880, 24337154, 24376643, 24429578, 24489861, 24695864, 24726898, 24728128, 24740571, 24905913, 24914535, 24925104, 25036354, 25105294, 25143351, 25157406, 25368101, 25370850, 25379510, 25463099, 25524916, 25565210, 25567348, 25605810, 25631608, 25635986, 25667308, 25712349, 25774510, 25775977, 25974167, 26269521, 26278286, 26289721, 26337083, 26337673, 26386696, 26606528, 26615044, 26779543, 27019061, 27072495, 27175665, 27280334, 27281091, 27448167, 27505441, 27535031, 27664094, 27896979, 27898283, 28012244, 28050343, 28252104, 28280335, 28334683, 28481223, 28607108, 28611053, 28684635, 28742858, 28789618, 28905132, 28919328, 28934129, 29141982, 29229776, 29414688, 29491224, 29631902, 29691896, 29712868, 29754174, 29768267, 29893513, 29945658, 29989852, 30092829, 30182532, 30190473, 30352895, 30728419, 30759032, 30863457, 30914061, 30945665, 30970177, 31085831, 31123324, 31208038, 31499737, 31558459, 31676859, 31697830, 31796987, 32017362, 32064729, 32182220, 32326243, 32341337, 32354719, 32433667, 32490905, 32887608, 32888406, 32894192, 32928872, 32938833, 33123595, 33209162, 33274206, 33490284, 33581131, 33617875, 33628196, 33711989, 33761612, 33966442, 33980776, 33989714, 34255930, 34502231, 34763485, 34907913, 34943951, 35046895, 35082198, 35163144, 35165256, 35184403, 35221617, 35260800, 35334221, 35657990, 35697299, 35841806, 35936218, 36018759, 36280617, 36368478, 36368953, 36463286, 36524461, 36543916, 36547924, 36693378, 36718853, 36749929, 37047308, 37108578, 37291636, 37442415, 37679740, 37716291, 37949941, 38027145, 38032738, 38049589, 38158370, 38219974, 39174611, 7913622, 8083355, 8108432, 8121460, 8675629, 8787686, 8911293, 8981937, 9011569, 9042926, 9078243, 9260775, 9449686, 9541507, 9560308	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	12621037, 12685875, 17417692, 17683561, 18059616, 20724797, 21532749, 22492527, 22578083, 22977253, 23771925, 24705588, 25790476, 25879401, 27789766, 28150817, 28283687, 28758947, 29641741, 30149534, 30503831, 30912283, 31271312, 31756165, 32198214, 32722720, 32882526, 33251697, 33382877, 35040554, 35742925, 36111501, 36167523, 36282337, 36942376, 36944059, 37294632, 39273144, 8675652	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22615949	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10051018, 10189536, 10447260, 10522814, 10814711, 10907126, 10908288, 11016449, 11024583, 11070077, 11095462, 11115836, 11115840, 11132145, 11175794, 11206410, 11246473, 11409713, 11606170, 11681491, 11855150, 11978629, 12021131, 12079889, 12196483, 12475765, 12727927, 12727928, 12750767, 1425093, 14526271, 14551599, 14679078, 14679083, 14724691, 14735147, 14749349, 14972324, 15008838, 15037990, 15140033, 1516482, 1521730, 15220214, 15245369, 15372359, 15381080, 15505007, 15561961, 15592805, 15699505, 15794911, 15983206, 16025255, 16046318, 16211374, 16246524, 16248812, 16307231, 16380501, 16390390, 16403445, 16552513, 17053071, 17130527, 17130532, 17130566, 17284223, 17327440, 17341563, 17448564, 17452059, 17461431, 17508343, 17551474, 17937736, 18647951, 19000139, 19011169, 19040615, 19050246, 19073967, 19143819, 19143820, 19168599, 19188433, 19788384, 19956096, 19956109, 20054344, 2057168, 20607677, 20628762, 20849903, 20855609, 21266329, 21352425, 2140083, 21429197, 21512962, 21873553, 22315323, 22357962, 2252525, 22547268, 22928566, 22957706, 23296174, 23337153, 23539116, 23554999, 23628620, 23721563, 23803704, 24249616, 24260237, 24844227, 24875393, 24971665, 2499501, 25004096, 25157096, 2519348, 25862998, 25918233, 25964488, 26073034, 26107514, 26216854, 26273670, 26350612, 26397425, 26450151, 26784909, 26923214, 27035557, 27151105, 27280852, 27352912, 27714970, 27920090, 2792577, 28099204, 28137793, 28205558, 28262800, 28390953, 28438156, 28472070, 28488272, 28526919, 28597946, 28692149, 28758130, 28794283, 28842400, 28864875, 28877460, 29144809, 29218110, 29310926, 29343547, 29361385, 29476720, 30073765, 30089176, 30181272, 30184337, 30230179, 30237494, 30275329, 30304371, 30340983, 30412637, 30428974, 30455401, 30456822, 30530850, 30622969, 30635950, 30693639, 30952805, 30953560, 31150930, 31438962, 31442418, 31511930, 31601695, 31612266, 31655017, 31660582, 31695065, 31808541, 3896895, 6759245, 7573054, 7605869, 7633396, 7663523, 7673396, 7773291, 7773292, 7840860, 7858104, 7988775, 7989457, 8174848, 8314006, 8335179, 8425658, 8529129, 8585997, 8739920, 8816977, 8816980, 8817351, 8845059, 8858382, 8864169, 8911856, 8981961, 8982458, 9054944, 9054945, 9096974, 9144439, 9178025, 9239508, 9279485, 9353155, 9354805, 9405028, 9440474, 9498658, 9588457, 9603916, 9604880, 9609365, 9642660, 9662409, 9683605, 9709972, 9754833, 9844045, 9858659, 9892247, 9914216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	14633852, 15237706, 15889096, 16307231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	20620209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	21829393, 25751624, 31152121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 2	Diabetes Mellitus	GENOMICS_ENGLAND_DG	17855560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 2	Diabetes Mellitus	UNIPROT_DG	18192540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 2	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 2	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	20620209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10347771, 10392345, 10414939, 10778862, 10913945, 10987675, 11460589, 11606170, 11978587, 12021128, 12079889, 12124731, 12364457, 12502511, 1418922, 14563448, 14715866, 15142366, 15170498, 1521730, 15562019, 15834700, 1587533, 17416797, 1773484, 18072012, 18162506, 18310307, 18621093, 19351735, 19502414, 20033802, 21378178, 21384500, 21437630, 21566073, 21779873, 21814547, 21841312, 21873549, 22325160, 24022479, 24296717, 24439111, 24489861, 24584071, 24843127, 25605810, 26160912, 26251103, 27035557, 27488292, 27899481, 28004151, 28607108, 28615632, 28924380, 29229776, 29377149, 29380336, 29436863, 29625024, 29669179, 29954628, 29972779, 30230179, 30230182, 30230185, 30759032, 30961396, 31184302, 31245904, 31300553, 31311313, 31411368, 31676859, 31840061, 3886460, 4036712, 6680483, 6680499, 7629230, 7698505, 7821172, 7821738, 7851068, 7859592, 7951555, 8098691, 8111072, 8136459, 8281664, 8314006, 8582133, 8585997, 8666140, 8742569, 8817108, 8833628, 8894492, 8982458, 9015668, 9105898, 9135953, 9157089, 9212310, 9250448, 9313751, 9313763, 9356033, 9474075, 9492113, 9614613, 9614620, 9648837, 9649955, 9662053, 9768375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	11522680, 11978674, 15531508, 16259526, 16519038, 21680998, 21779873, 23349674, 3511099, 7573102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15126243, 15538935, 16741735, 17068290, 18279373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30254083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	UNIPROT_DG	17855560, 18162506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	GENOMICS_ENGLAND_DG	17855560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	18451997, 18662362, 21823539, 21910811, 22369132, 22859427, 23562494, 25052923, 25755231, 27279137, 30230182, 30915639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CLINVAR_DG	20133622, 20938745, 21592955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	ORPHANET_DG	21844708, 22498247, 23107109, 23245869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	20620209		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	BEFREE	25755231, 25998132		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	12727927, 12727928, 15046555, 20535137, 21873553, 25918233, 27920090, 30201436, 31612266		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	20620209		★☆☆☆☆ Found in Text Mining only
Diabetes-deafness syndrome maternally transmitted (disorder)	Diabetes and Hearing Loss	BEFREE	9105898		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	20828608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Foot	Diabetic Foot	BEFREE	29436863		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	CTD_human_DG	11430560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	17855560, 23456528, 26530398, 28511139, 31196892, 35301072, 35518939	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	21429197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	31196892, 31605659, 34888628, 35082198, 35992134, 9260775	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	18449463, 19091788, 2002627, 20197308, 36313763, 36314849, 36633903, 39562547	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35846305, 36701305	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10099885, 10462269, 31737684, 8772723, 8854649, 9498654, 9519751, 9649955, 9660089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	2143390, 7713310, 7987072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	30414308, 35992134	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	22341865, 23562823, 39900481	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23144758, 37828117	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28480495, 8582133, 9157089, 9661650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	22486858	Associate	★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	10487323	Inhibit	★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	9157089		★☆☆☆☆ Found in Text Mining only
Donohue Syndrome	Donohue syndrome	Pubtator	20339196, 2365819, 293690, 3631076, 3883764, 6345588	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31015020		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	19878864	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	15536873, 168059, 31073722, 9745853	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	5480844	Inhibit	★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	BEFREE	1973904		★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	28329776	Stimulate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	16201139		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	25897955	Stimulate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	34001235, 35454146	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	25879409		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	34750480	Inhibit	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	16504044	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	18620562, 27246810	Associate	★☆☆☆☆ Found in Text Mining only
Endogenous Hyperinsulinism	Endogenous Hyperinsulinism	CTD_human_DG	2991050, 3511099, 4019786, 6382002		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15322863, 17233921, 26134033, 27125830, 28112250, 29297146, 33622671, 35437568, 36526973, 8314534	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29198272		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	25458098	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19360286	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25133511, 29369145	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	8772723		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	36753667	Associate	★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exogenous Hyperinsulinism	Exogenous Hyperinsulinism	CTD_human_DG	2991050, 3511099, 4019786, 6382002		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	25836975	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	20139635, 23516571, 27315352, 35013040, 37385614, 37511066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	9048448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	23394097, 28277977	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30323112		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	27914217		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24415571	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	18375961	Associate	★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	24192345		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	18419060	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35513291	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31665421		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10433096, 8989248, 9672157, 9892247		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	31756165	Inhibit	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21467301, 34965699	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	10051018, 9672157		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	28271591	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19351735	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32724489	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	15628829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	31508506, 32406318, 37909603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	15628829		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	20150954	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	25985182	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	32950058	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	36167523	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21464041	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22862962, 23133528, 25645159	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	17131467, 30586166	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	26268075	Inhibit	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34445125	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	22390153, 36793022	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	35698198	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	14693412		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	10545530, 16962112, 17855560, 18541587, 20185807, 22018645, 22266116, 23350652, 25042561, 25385439, 27643615, 28866834, 31605659, 32182220, 33967958, 34299331, 35184403, 36768715	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	11978587, 17207885, 19183934, 23337153, 23350652, 23554999, 25765664, 26106223, 26795016, 28202581, 28480495, 29351386, 29377149, 29436863, 29885044, 30020832, 7821172, 8646554, 9649955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	16075063, 18167556, 20705777, 20888904, 21236451, 22688337, 23985558, 25278226, 26819233, 28480665, 29624227, 30735706, 31740700, 34419042, 38066613	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CLINVAR_DG	17855560, 18162506, 18192540, 20226046, 25542748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CTD_human_DG	8660453, 9861226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia familial 6	Hyperinsulinemic hypoglycemia	Pubtator	11502802, 30367518	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10347771, 15142366, 17011062, 18388898, 25173880, 27035557, 27520508, 28473613, 30131390, 31624142, 7556950, 8521557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	11207177, 1601997, 19773552, 20185807, 20843946, 22094332, 22390153, 27069678, 29034901, 33762279, 33967958, 34435596, 35578225, 36239000, 36384957, 36440205, 37454648, 6312455	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	LHGDN	14693412, 15538935, 18404969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	18478343, 25042561	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	27074817, 28427228	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	CTD_human_DG	2991050, 3511099, 4019786, 6382002		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	10357835	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	16497841, 25944880, 36749274, 9260775	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	36167523	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	11993791	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	29574070	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IV	Hyperlipoproteinemia	Pubtator	33588820	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20830240	Associate	★☆☆☆☆ Found in Text Mining only
Hyperproinsulinemia	Hyperproinsulinemia	BEFREE	10347771, 11978587, 1601997, 20034470, 2196279, 24843127, 288074, 3023795, 31300553, 3470784, 4019786, 6368587, 8636380, 9667398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperproinsulinemia	Hyperproinsulinemia	UNIPROT_DG	1601997, 2196279, 3470784, 4019786		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperproinsulinemia	Hyperproinsulinemia	Pubtator	1601997, 288074, 3470784, 4019786	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperproinsulinemia	Hyperproinsulinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperproinsulinemia	Hyperproinsulinemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertension	Hypertension	Pubtator	11016797, 17086019, 23942764, 24786779, 29162152, 29369145, 32888289, 33176720	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	12358137, 20491605	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	36297114	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	11800057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	18360027, 9719048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30955929, 9329742, 9519751, 9519758, 9609365, 9649955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive Nephropathy	Hypertensive nephropathy	Pubtator	33176720	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	33588820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	8660453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	8660453		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	16400016	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	18388900	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	30890782	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	33490284	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	20303351	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	1281841, 18419060, 19053014, 21968108, 21979934, 23843578, 23990951, 28600547, 29648519, 30976983, 33040071, 34583764, 34830301, 35518939, 35665752, 37454648, 7847376	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	CTD_human_DG	1324617, 1646414, 1890151, 20620209, 22940631, 2554359, 48835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	LHGDN	18072146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	18926903, 19058315, 20587725, 22401332, 25753915, 26399329, 26440526, 26819233, 30520387, 30535721, 30768625, 31073722, 35552392, 3917947, 4250364, 8797055, 8835601, 9076339, 9261935, 9923795	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	BEFREE	23337153, 27155214, 29047219, 30451800, 31564026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	35918735	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	26622051	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	9617861	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	33767671	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	36167523	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	25585504	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24134599	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29843131, 30237409, 34224918, 37759548	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	26166255	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	8222374		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29533950		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	8222374		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	31748790	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	37949105, 37972259	Stimulate	★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	10207722, 10726903, 11109972, 11551849, 11707433, 12621164, 12832613, 12954593, 1446650, 1460020, 15339744, 15919832, 16002819, 16089501, 16395259, 16603055, 17030959, 17131467, 17227768, 17351274, 17563058, 17786204, 17908551, 17986714, 18270300, 18332089, 18364460, 18426863, 18670420, 19544118, 19570552, 19580964, 19668377, 19720790, 19720801, 19794059, 19841271, 20107109, 20339196, 20570822, 20739510, 20858286, 20930717, 21054880, 21318406, 21464990, 21593812, 21632466, 21757715, 21901158, 22297646, 22390153, 22596174, 22694222, 22721429, 22844517, 22862962, 22970944, 23133528, 23193206, 23308243, 23463496, 2365819, 23715754, 23855914, 24086540, 24306210, 2479553, 24947364, 24985106, 25059784, 25196736, 25463099, 25635986, 25641314, 2573522, 25832963, 26223240, 26284522, 26352439, 26386696, 26402673, 26525880, 26672043, 26742564, 26831110, 26884438, 26962819, 27111539, 27150866, 27280334, 27459314, 27535281, 27810898, 28042651, 28270597, 28866834, 29342149, 29362600, 293690, 29410345, 29893513, 30514227, 30571288, 30620635, 30623452, 30826467, 30863203, 30866603, 30939905, 30984779, 30992506, 31085831, 31200560, 31253200, 31301321, 31389668, 31499737, 31517621, 31739742, 31766080, 32122428, 32293066, 32382742, 32469141, 32536688, 32651353, 32725157, 3280314, 32886191, 33509040, 33728347, 3384956, 34051802, 34204938, 34718921, 34763485, 35163144, 35184403, 35221617, 35363363, 35409099, 35449053, 35579861, 35600576, 35634501, 35971929, 35987697, 35996309, 36316084, 36368953, 36693378, 36724370, 36782224, 37291194, 37309120, 37442415, 37453421, 37506691, 37587407, 37898813, 38009017, 38027137, 38032738, 38102588, 38136941, 38233797, 39174611, 39192263, 39684804, 40055326, 40380373, 6345588, 8529513, 8941652, 9218523, 9486982, 9560308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	16007256, 22590537, 23468892, 23651848, 25210878, 25879401, 27207326, 30322801, 31250990, 32375679, 33637536, 35110500, 35737707, 35841806, 37047308, 38103636, 7154104	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21479595, 22327199, 24757657, 24815457, 25472847, 25595199, 29046328, 29955086, 31679138, 32059761, 33479282, 33711016, 34034759	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
insulinoma	Insulinoma	BEFREE	17412698, 18263705, 18451997, 19426881, 19952343, 233702, 25482405, 27667266, 27984486, 28108221, 28225059, 28510792, 28527697, 28993191, 29051320, 29485914, 29953508, 3023795, 30476561, 30919365, 31249641, 6199792, 7716141		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19053014	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	28102591	Stimulate	★☆☆☆☆ Found in Text Mining only
Kandinsky Syndrome	Erotomania	CTD_human_DG	21911655		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	25247416	Associate	★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	BEFREE	9314635		★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	23337153, 6680543		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22162761	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	30637974, 33967958, 34153873	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	8772723, 8854649, 9519758, 9648837, 9649955, 9726242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	CTD_human_DG	8606734, 9861226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	11012908	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	12243603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	10099885		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32349989	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	15932520, 18310307, 19001190, 20805278, 23194113	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	19001190, 35784546, 35918735	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	28472070, 30456822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	GWASCAT_DG	30254083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	11579365		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	15628829		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2713271		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	3291986, 4341701	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19789352, 34502231	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	2713271		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	29092095, 31081340	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15970649		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	21910811		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	21479595	Stimulate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	21910811		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	23810379, 8529513	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	Pubtator	34187516	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	31069877	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11277867, 12606056, 2475498, 31020447, 31216956		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	17344504		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	21796809, 39809143	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	27315352, 29565162, 31534089	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37572939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases Alcoholic	Liver disease	Pubtator	22577490	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36167523	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	12639207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	11277867, 2475498		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29618798	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	29548277	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25278226, 8626706	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29755474	Associate	★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	BEFREE	12097339		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	11327715, 12031988, 12097339, 14724691, 9858659		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	2898127	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17348446, 28478612		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15970649		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	12610512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23041326		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15678496, 15970649, 28614004, 29399966		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	11708577	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14986111		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	5506046		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	5506046		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10347805, 18162506, 19900242, 20007936, 21521318, 25423173, 25721872, 27035557, 27659712, 28992123, 30447144, 9250448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	22498247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young, type 10	Mason type diabetes	GENOMICS_ENGLAND_DG	17855560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young, type 10	Mason type diabetes	CLINVAR_DG	17855560, 18162506, 18192540, 20226046, 25542748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young, type 10	Mason type diabetes	UNIPROT_DG	18162506, 18192540, 20226046, 25423173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young, type 10	Mason type diabetes	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	25953317, 30970006	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33082316	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	18430999, 21694461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	23507773, 31899862	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory Disorders	CTD_human_DG	9264093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	15696974		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	1418922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic syndrome	Pubtator	16814735, 17563058, 21979934, 22457223, 24996265, 26136127, 26788516, 27070751, 27597954, 29131315, 29203791, 29893513, 30775986, 30945665, 31362984, 33859622, 34930403, 35363363, 35578225, 35996309, 36111501, 36714559, 36988872	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	19131468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic syndrome	Pubtator	24265536	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic syndrome	Pubtator	27069678, 32107266	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	16602826, 1713812, 17351274, 21266669, 21508135, 21904299, 21962038, 22185674, 22479213, 22584727, 23375099, 23515448, 23669880, 23736306, 23855914, 24358323, 24455214, 26084465, 26202599, 26470795, 27101299, 27133621, 27301461, 29369145, 31502573, 31739742, 32122428, 33637536, 34801968, 35165256, 37904219, 38181524, 39217505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	20032477, 22129309, 24484717, 29658358, 33764994	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	24786779	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	CTD_human_DG	11274935, 16259526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	14749349, 16201139, 16868061, 18716398, 24439111, 31728904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19093000, 21464990, 21555852, 27966441, 28252104, 36313763	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19332493, 25731694	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20490276	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	31630688	Associate	★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	CLINVAR_DG	17855560, 18162506, 18192540, 20226046, 25542748		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	BEFREE	27167055		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor Neuron Disease	LHGDN	17116217		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	9681845		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20844560	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17125142, 27771469, 30181272		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33004909	Associate	★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	28472070		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9034788		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	15628829		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14629464, 22101166		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	14629464, 22018645, 31508506	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25696117	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31508506	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	32406318	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	9474075		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	19375382		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	496411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	33973916	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	11422660, 1142379, 16920849, 18271689, 20339196, 20930717, 22341865, 22558111, 28915272, 30901379, 32553458, 7951555	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	24243639, 27849238, 29546061, 30845774	Inhibit	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	34745571	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	24626736	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	18162506, 18171712, 18192540, 19880509, 19900242, 20034470, 20133622, 20546293, 21910811, 22701567, 23107109, 24566359, 25755231, 25765664, 26101329, 26212367, 26530398, 27035557, 27487489, 28478482, 29305569, 29890547, 30230182, 30412052, 30915639		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15970649, 27317648, 27914217, 27984486, 28510792, 28614004, 2894882, 3023795, 31020447, 31369096, 7716141		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17325026		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24644543, 30721404		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	29533950		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31519934		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	19446573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17156427, 20490276, 20667453, 23710710, 7986393	Associate	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	CTD_human_DG	21911655		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19387107, 26010513, 30149534, 31081340, 31270305	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28510792, 30451800, 7716141		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	2143390, 7713310, 7987072		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28840257, 30323112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30323112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	BEFREE	31519934		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11001753, 11283790, 12055319, 12109775, 12855762, 14569045, 15010337, 15044667, 15231849, 15298982, 16129713, 16277018, 16339118, 16403952, 16460444, 16784178, 16896161, 17030959, 17184146, 17639020, 17705672, 17986714, 18059616, 18078524, 18270300, 18303080, 18336063, 18375961, 18460597, 18535193, 18654034, 18719649, 19197265, 19214176, 19225211, 19247282, 19570552, 19820914, 20139635, 20466783, 20534142, 20619427, 20678967, 20829805, 21203453, 21286499, 21737012, 21760887, 21852675, 21873552, 21904299, 21907990, 22044490, 22185674, 22265870, 22278432, 22433619, 22457223, 22510711, 22694222, 22711164, 22970944, 23150676, 23289013, 23463496, 23529132, 23583180, 23651848, 24062323, 24141239, 24178789, 24337154, 24422628, 24521217, 24719315, 24996265, 25210878, 25369206, 25370852, 25517289, 25642424, 25731694, 25774664, 25944880, 26084465, 26136127, 26147062, 26232099, 26376914, 26386696, 26868993, 26871994, 26886906, 27052493, 27069678, 27379957, 27477082, 27545890, 27759977, 27883272, 28034763, 28042651, 28106509, 28474384, 28570579, 29086510, 29112142, 29193093, 29228058, 29295838, 29574070, 29645064, 29693476, 29893513, 30045424, 30309776, 30481042, 30528280, 30758089, 30826467, 30871567, 30912283, 30936085, 31091445, 31197173, 31234367, 31504107, 31766080, 31879755, 31982479, 32017362, 32033349, 32064729, 32198214, 32311037, 32544194, 32599690, 32820223, 33185172, 33348678, 33684170, 33859622, 33933146, 33998291, 34457110, 34467673, 34554347, 34620218, 34930403, 35247066, 35454146, 35578225, 35587468, 35766976, 35843386, 35963866, 36231008, 36297056, 36451420, 36609306, 36849131, 36988872, 37004031, 37373436, 37385614, 37716291, 37800791, 38216702, 38250713, 8150099, 9218523	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	11528401, 2777199, 29035695, 8923850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	11978587, 12364457, 15843989, 16201139, 16251897, 16339118, 16380501, 16644867, 19183934, 20534142, 27142411, 28615046, 31184304, 8635646, 9492113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	12055322, 14694215, 19332493, 24885899, 27246401, 27377425, 27465935, 28453173, 29301242, 29854435, 30009507, 30017803, 30572569, 33185172, 35703718, 37219669	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	18565643, 24819376, 25879401, 27821717, 28338072, 28600576, 29737494, 30845774, 35409282	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	18388900, 18541587, 23715754	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	21904299, 24901105, 27545890	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	10487323	Inhibit	★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	10945659		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	35010780	Associate	★☆☆☆☆ Found in Text Mining only
Organic Brain Syndrome, Nonpsychotic	Nonpsychotic Organic Brain Syndrome	CTD_human_DG	21911655		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33382877	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	22308218	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22698912, 35758378, 36316863	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27665867		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35761259, 36932437, 36936171, 8557160	Associate	★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	BEFREE	8792089		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	36414599	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19571666, 20663861, 28360038, 30838710, 32235821	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	CTD_human_DG	17163263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	18535540, 26633894, 32725157, 34155619, 35002959, 38273351	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis Chronic	Pancreatitis	Pubtator	29659906	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	CTD_human_DG	12073167		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	CTD_human_DG	12073167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27914217		★☆☆☆☆ Found in Text Mining only
Paraparesis	Paraparesis	Pubtator	31866237	Inhibit	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	26923214		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	18085551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	22952715, 25169894, 25646437, 26134514, 30640362, 31081340, 34745571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	31354022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric Obesity	Childhood obesity	BEFREE	14616883, 16868061, 18388898, 20534142		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	1968992		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	25924856	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29436863		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29436863		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	31815616		★☆☆☆☆ Found in Text Mining only
Permanent neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Hormone Deficiency Combined 2	Pituitary hormone deficiency	Pubtator	23064477	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	9264009	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10927066, 10973656, 11109972, 12849814, 14556818, 15374726, 16603055, 16785159, 17070195, 17520407, 17563058, 17898989, 17953957, 17953969, 18332089, 18560589, 18768676, 18854391, 18976759, 19094425, 19351735, 19544118, 19837928, 20041287, 20388053, 21300335, 21824047, 22035022, 22296324, 22296403, 22390153, 22468791, 22584727, 22648908, 22900502, 22904171, 22985947, 23198915, 23748472, 24040456, 24189751, 25554608, 25595199, 25695884, 26136127, 26335185, 26868993, 27052493, 27429113, 27459314, 27505055, 27748298, 28222635, 28337819, 28617068, 28949260, 28954502, 29029022, 29363717, 30382797, 30477916, 30527840, 30623452, 30668196, 30953560, 30959948, 32382742, 32574161, 32772928, 32785222, 33341231, 33579525, 33728347, 33859622, 34022900, 35270805, 35393909, 35758378, 35771237, 35843386, 36011374, 36139396, 36182923, 36291122, 36695944, 36793022, 36799021, 37358742, 38164524, 38213994, 7635975, 7920895, 8150099	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	11889176, 16123091, 2777199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11994352, 12079889, 15292352, 15705917, 17520407, 17785364, 17953969, 19351735, 19948072, 22468791, 24677210, 25220536, 30953560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	16316841, 20170341, 23830153, 23981122, 25467041, 25585504, 31340838, 31771632, 36157441	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	19094425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19580964, 35409282, 36286390	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	17284223, 20535137		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15750215, 9443474		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	29129118	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12610512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	12610512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12610512, 15880482, 23251408, 25683512, 25720493, 29249638, 33036464, 35670774, 36931467	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16884534, 28732480	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	27966441, 9617861	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	24030943	Associate	★☆☆☆☆ Found in Text Mining only
Psychoses, Traumatic	Psychosis	CTD_human_DG	21911655		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	29523870	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31409982, 32050955	Associate	★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	CTD_human_DG	1324617, 1646414, 1890151, 20620209, 22940631, 2554359, 48835		★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome	Pubtator	35992134	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CTD_human_DG	8606734, 9861226		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22266116	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	8582133, 9157089		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23017108, 30534050		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	17604597	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	17506723	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	33153458	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	8454633	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17125142		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	37909603	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	20161799, 29722909, 35165256	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30100396	Stimulate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	11889176, 16123091, 2777199		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22977253	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	24138066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	28480665	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	22451332, 30719767, 34449768, 36174398	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	27900260	Inhibit	★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	9368637		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	20009116	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	1692016		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	9048448		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	9368637		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23041326		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23907334	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26084465, 34554347	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31630688	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet syndrome	Pubtator	26942844	Associate	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	27577546	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	19446573		★☆☆☆☆ Found in Text Mining only
Thiamine responsive megaloblastic anemia syndrome	Thiamine Responsive Megaloblastic Anemia Syndrome	BEFREE	27329029		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	27759896, 8981925	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	18614853	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12850828	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	17551966	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30657911, 34537745	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	38164867	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32846846, 33903625	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	30657911	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	15928253, 19141582, 31350776	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	19375382		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	21953423, 25998132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17520407		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25341922	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	25268093	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	19567529	Inhibit	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	9474075		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18246526, 2144234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary Bladder Diseases	CTD_human_DG	2055425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	30729133	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17116246, 27350368	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20587725, 21515851, 22709426, 27009027, 30871567	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22808198	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	19475663	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular Fibrillation	CTD_human_DG	5348156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visual seizure	Seizure	CTD_human_DG	14714756, 4115818		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	33767671, 36178657	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	34836301	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	33564861	Associate	★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	25306193		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram syndrome	Pubtator	21517693, 28271591, 34792267	Associate	★☆☆☆☆ Found in Text Mining only
Wolman Disease	Wolman disease	Pubtator	32365792	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	12097339		★☆☆☆☆ Found in Text Mining only