MAP4K2 (mitogen-activated protein kinase kinase kinase kinase 2)

Gene

• Entrez ID: 5871
• Gene name: Mitogen-activated protein kinase kinase kinase kinase 2
• Gene symbol: MAP4K2
• Synonyms (NCBI Gene): BL44, GCK, RAB8IP
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-ce

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024097	hsa-miR-1-3p	Microarray	18668037
MIRT053659	hsa-miR-145-5p	Microarray	22942087
MIRT695548	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT695540	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT695547	hsa-miR-4781-3p	HITS-CLIP	23313552
MIRT695546	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT695545	hsa-miR-4732-3p	HITS-CLIP	23313552
MIRT695544	hsa-miR-3663-5p	HITS-CLIP	23313552
MIRT695543	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT695542	hsa-miR-6131	HITS-CLIP	23313552
MIRT695541	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT695540	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT695539	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT695538	hsa-miR-548s	HITS-CLIP	23313552
MIRT695537	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT695536	hsa-miR-588	HITS-CLIP	23313552
MIRT695535	hsa-miR-4435	HITS-CLIP	23313552
MIRT695534	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT695533	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT695532	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT695531	hsa-miR-5096	HITS-CLIP	23313552
MIRT695530	hsa-miR-1303	HITS-CLIP	23313552
MIRT667483	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT656474	hsa-miR-5693	HITS-CLIP	23824327
MIRT656473	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT656472	hsa-miR-3135b	HITS-CLIP	23824327
MIRT656471	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT656470	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT656469	hsa-miR-3652	HITS-CLIP	23824327
MIRT656468	hsa-miR-4430	HITS-CLIP	23824327
MIRT656467	hsa-miR-5698	HITS-CLIP	23824327
MIRT626556	hsa-miR-645	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT545188	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT545187	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT545186	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT545185	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT545183	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT545182	hsa-miR-646	PAR-CLIP	20371350
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT545180	hsa-miR-633	PAR-CLIP	20371350
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT545176	hsa-miR-2054	PAR-CLIP	20371350
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT545188	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT545187	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT545186	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT545185	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT545183	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT545182	hsa-miR-646	PAR-CLIP	20371350
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT545180	hsa-miR-633	PAR-CLIP	20371350
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT545176	hsa-miR-2054	PAR-CLIP	20371350
MIRT545191	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT545188	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT545187	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT545186	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT545185	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT545183	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT545182	hsa-miR-646	PAR-CLIP	21572407
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT545180	hsa-miR-633	PAR-CLIP	21572407
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT545176	hsa-miR-2054	PAR-CLIP	21572407
MIRT695548	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT695540	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT695547	hsa-miR-4781-3p	HITS-CLIP	23313552
MIRT695546	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT695545	hsa-miR-4732-3p	HITS-CLIP	23313552
MIRT695544	hsa-miR-3663-5p	HITS-CLIP	23313552
MIRT695543	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT695542	hsa-miR-6131	HITS-CLIP	23313552
MIRT695541	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT695540	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT695539	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT695538	hsa-miR-548s	HITS-CLIP	23313552
MIRT695537	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT695536	hsa-miR-588	HITS-CLIP	23313552
MIRT695535	hsa-miR-4435	HITS-CLIP	23313552
MIRT695534	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT695533	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT695532	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT695531	hsa-miR-5096	HITS-CLIP	23313552
MIRT695530	hsa-miR-1303	HITS-CLIP	23313552
MIRT667483	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT656474	hsa-miR-5693	HITS-CLIP	23824327
MIRT656473	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT656472	hsa-miR-3135b	HITS-CLIP	23824327
MIRT656471	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT656470	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT656469	hsa-miR-3652	HITS-CLIP	23824327
MIRT656468	hsa-miR-4430	HITS-CLIP	23824327
MIRT656467	hsa-miR-5698	HITS-CLIP	23824327
MIRT626556	hsa-miR-645	HITS-CLIP	23824327
MIRT626555	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT545188	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT545187	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT545186	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT545185	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT545183	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT545182	hsa-miR-646	PAR-CLIP	20371350
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT545180	hsa-miR-633	PAR-CLIP	20371350
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT545176	hsa-miR-2054	PAR-CLIP	20371350
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT545188	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT545187	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT545186	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT545185	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT545183	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT545182	hsa-miR-646	PAR-CLIP	20371350
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT545180	hsa-miR-633	PAR-CLIP	20371350
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT545176	hsa-miR-2054	PAR-CLIP	20371350
MIRT545191	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT545190	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT545189	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT545188	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT545187	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT545186	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT545185	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT545184	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT545183	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT545182	hsa-miR-646	PAR-CLIP	21572407
MIRT545181	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT545180	hsa-miR-633	PAR-CLIP	21572407
MIRT545179	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT545178	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT545176	hsa-miR-2054	PAR-CLIP	21572407
MIRT1129405	hsa-miR-1225-3p	CLIP-seq
MIRT1129406	hsa-miR-1908	CLIP-seq
MIRT1129407	hsa-miR-2117	CLIP-seq
MIRT1129408	hsa-miR-3151	CLIP-seq
MIRT1129409	hsa-miR-3168	CLIP-seq
MIRT1129410	hsa-miR-3180	CLIP-seq
MIRT1129411	hsa-miR-3180-3p	CLIP-seq
MIRT1129412	hsa-miR-3196	CLIP-seq
MIRT1129413	hsa-miR-331-3p	CLIP-seq
MIRT1129414	hsa-miR-342-5p	CLIP-seq
MIRT1129415	hsa-miR-374c	CLIP-seq
MIRT1129416	hsa-miR-4651	CLIP-seq
MIRT1129417	hsa-miR-4664-5p	CLIP-seq
MIRT1129418	hsa-miR-4706	CLIP-seq
MIRT1129419	hsa-miR-4749-5p	CLIP-seq
MIRT1129420	hsa-miR-4768-5p	CLIP-seq
MIRT1129421	hsa-miR-495	CLIP-seq
MIRT1129422	hsa-miR-524-3p	CLIP-seq
MIRT1129423	hsa-miR-525-3p	CLIP-seq
MIRT1129424	hsa-miR-608	CLIP-seq
MIRT1129425	hsa-miR-655	CLIP-seq
MIRT1129426	hsa-miR-663	CLIP-seq
MIRT1129427	hsa-miR-939	CLIP-seq
MIRT2036912	hsa-miR-105	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS	8643544
GO:0000166	Function	Nucleotide binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	11784851
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	11784851, 21044950
GO:0005524	Function	ATP binding	IDA	11784851
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	IDA	11784851
GO:0006903	Process	Vesicle targeting	IEA
GO:0006955	Process	Immune response	TAS	7515885
GO:0007254	Process	JNK cascade	TAS	7477268
GO:0008349	Function	MAP kinase kinase kinase kinase activity	IBA
GO:0008349	Function	MAP kinase kinase kinase kinase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031435	Function	Mitogen-activated protein kinase kinase kinase binding	IPI	17584736
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	11784851
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043507	Process	Positive regulation of JUN kinase activity	IDA	17584736
GO:0045087	Process	Innate immune response	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	17584736
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 603166
• HGNC: 6864
• e!Ensembl: ENSG00000168067

Protein

• UniProt ID: Q12851
• Protein name: Mitogen-activated protein kinase kinase kinase kinase 2 (EC 2.7.11.1) (B lymphocyte serine/threonine-protein kinase) (Germinal center kinase) (GC kinase) (MAPK/ERK kinase kinase kinase 2) (MEK kinase kinase 2) (MEKKK 2) (Rab8-interacting protein)
• Protein function: Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	16 → 273	Protein kinase domain	Domain
  PF00780	CNH	492 → 790	CNH domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in germinal center but not mantle zone B-cells. Also expressed in lung, brain and placenta and at lower levels in other tissues examined. {ECO:0000269|PubMed:7515885}.
• Sequence:

  MALLRDVSLQDPRDRFELLQRVGAGTYGDVYKARDTVTSELAAVKIVKLDPGDDISSLQQ
  EITILRECRHPNVVAYIGSYLRNDRLWICMEFCGGGSLQEIYHATGPLEERQIAYVCREA
  LKGLHHLHSQGKIHRDIKGANLLLTLQGDVKLADFGVSGELTASVAKRRSFIGTPYWMAP
  EVAAVERKGGYNELCDVWALGITAIELGELQPPLFHLHPMRALMLMSKSSFQPPKLRDKT
  RWTQNFHHFLKLALTKNPKKRPTAEKLLQHPFTTQQLPRALLTQLLDKASDPHLGTPSPE
  DCELETYDMFPDTIHSRGQHGPAERTPSEIQFHQVKFGAPRRKETDPLNEPWEEEWTLLG
  KEELSGSLLQSVQEALEERSLTIRSASEFQELDSPDDTMGTIKRAPFLGPLPTDPPAEEP
  LSSPPGTLPPPPSGPNSSPLLPTAWATMKQREDPERSSCHGLPPTPKVHMGACFSKVFNG
  CPLRIHAAVTWIHPVTRDQFLVVGAEEGIYTLNLHELHEDTLEKLISHRCSWLYCVNNVL
  LSLSGKSTHIWAHDLPGLFEQRRLQQQVPLSIPTNRLTQRIIPRRFALSTKIPDTKGCLQ
  CRVVRNPYTGATFLLAALPTSLLLLQWYEPLQKFLLLKNFSSPLPSPAGMLEPLVLDGKE
  LPQVCVGAEGPEGPGCRVLFHVLPLEAGLTPDILIPPEGIPGSAQQVIQVDRDTILVSFE
  RCVRIVNMQGEPTATLAPELTFDFPIETVVCLQDSVLAFWSHGMQGRSLDTNEVTQEITD
  ETRIFRVLGAHRDIILESIPTDNPEAHSNLYILTGHQSTY

• Sequence length: 820

Pathways

KEGG:

MAPK signaling pathway

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31605429		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27197745	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25501962		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25501962		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23817999, 26791862, 30214937, 31640697		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carbohydrate Metabolism Inborn Errors	Carbohydrate metabolism disease	Pubtator	1502186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33594203, 33920410, 39215018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31431460, 31640697		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28516783		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36151532	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34385667	Associate	★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	30362177		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24535998, 30919935		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	9468341		★☆☆☆☆ 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
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28387648	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34608882	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	9292708	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	10805170, 11916951, 12475782, 12566718, 14517946, 15277402, 15868462, 17976205, 18156285, 18450771, 19146401, 19254908, 19790256, 21186003, 21454522, 22028181, 23890519, 25008049, 26283387, 28842611, 29044608, 29425029, 31094068, 9100595		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	CTD_human_DG	15277402		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	16938872, 19617908, 19884385, 21454522, 23274908, 23275527, 23345197, 24890200, 25008049, 26283387, 26399329, 28842611, 29425029, 31094068, 34635134, 34680961, 36384997, 37101203, 37725835, 37958824, 38033998, 39382384	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	LHGDN	18450771		★☆☆☆☆ 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
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15173029, 24696842		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15173029, 24696842		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	30525989		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34165031	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36151532	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24696842	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15173029, 24696842		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	34630320	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23817999		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10347805, 10447526, 10480597, 10588527, 10868949, 11202217, 11295563, 11467342, 11574410, 11916951, 12242462, 12475782, 1349989, 14580233, 1464666, 14749274, 1502186, 1545870, 1570017, 16026363, 16059790, 16173921, 16602010, 16938872, 17186387, 17200721, 17573900, 18297260, 20015564, 20172480, 20352598, 21104275, 21463240, 21720051, 21844708, 21921030, 22038522, 22486180, 22716779, 23139355, 23155716, 23378612, 23771925, 23778137, 23799006, 23890519, 24606082, 24677712, 25015100, 25344793, 25494859, 25987348, 26240958, 26577716, 26641800, 27289208, 27321323, 27432078, 28516783, 28626777, 29044608, 29207974, 29510678, 29546446, 29758564, 29915142, 30086875, 30087826, 30146176, 30155490, 30224347, 30245511, 30362177, 30465894, 30651321, 31210550, 31214998, 31704690, 31720743, 7542040, 7705022, 7789636, 7951673, 8035658, 8150222, 8163053, 8168695, 8200206, 8200207, 8325892, 8349034, 8433729, 8549853, 8712800, 8720607, 8875082, 9049484, 9105779, 9267992, 9294105, 9313763, 9736233		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	18271687, 20682688, 22773699, 27173344, 27554451, 28072873, 28371533, 29412391, 32482198, 33953693	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10347805, 10447526, 10480597, 10588527, 10868949, 11106831, 11202217, 11295563, 11467342, 11574410, 11916951, 12242462, 12475782, 1349989, 14580233, 1464666, 14749274, 1502186, 1545870, 1570017, 16026363, 16059790, 16173921, 16602010, 16938872, 17186387, 17200721, 17573900, 18297260, 19551638, 20015564, 20172480, 20352598, 21104275, 21463240, 21490074, 21720051, 21844708, 21921030, 22038522, 22486180, 22716779, 23009393, 23139355, 23155716, 23378612, 23771925, 23778137, 23799006, 23890519, 24606082, 24677712, 24890200, 25012807, 25015100, 25344793, 25494859, 25987348, 26240958, 26577716, 26641800, 27289208, 27321323, 27432078, 28000102, 28516783, 28626777, 28663157, 29044608, 29207974, 29510678, 29546446, 29758564, 29915142, 30086875, 30087826, 30146176, 30155490, 30224347, 30245511, 30362177, 30465894, 30651321, 31210550, 31214998, 31704690, 31720743, 7542040, 7705022, 7789636, 7859592, 7951673, 8035658, 8150222, 8163053, 8168695, 8200206, 8200207, 8325892, 8349034, 8433729, 8495817, 8530440, 8549853, 8712800, 8720607, 8875082, 8932999, 9049484, 9105779, 9267992, 9294105, 9313763, 9736233		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10347805, 1502186, 16059790, 16173921, 16938872, 18297260, 18382660, 19073768, 19884385, 19903754, 21437567, 21720051, 22298776, 22341299, 22446163, 22761713, 23139355, 23271955, 23778137, 23799006, 24244580, 24549415, 24606082, 24728127, 24890200, 25015100, 25755231, 26552609, 27271189, 27554451, 28842611, 29207974, 29329106, 29412391, 29510678, 29758564, 30245511, 31197960, 31276222, 31291970, 31576961, 31882596, 32508747, 32531870, 32792356, 34385667, 34406393, 34421822, 34469064, 34630320, 34732801, 34746319, 35228227, 35381380, 35592779, 35763601, 35963645, 36257325, 36400171, 36520489, 37033247, 40035195, 40225161, 8325892, 9078243, 9294105	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	17937063, 18571549		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19564454	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	BEFREE	10426385, 10455021, 15918042, 16026363, 18248649, 18271687, 18322640, 18399931, 18411240, 19551638, 20015564, 20337973, 21921030, 22043488, 22291974, 22761713, 23155715, 23295287, 23433541, 23778137, 24578721, 27269892, 29573377, 31092478, 31720743, 9078243		★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	UNIPROT_DG	10588527, 10694920, 11106831, 11372010, 1303265, 1464666, 1502186, 16965331, 17573900, 18322640, 19884385, 22611063, 25015100, 8168652, 8325892, 8446612, 8495817, 8878425, 9049484, 9662401		★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	CLINVAR_DG	10753050, 11079754, 11508276, 12442280, 14517946, 15677479, 16444761, 16632067, 16731834, 16965331, 17204055, 17389332, 17573900, 18382660, 18399931, 18411240, 19187021, 19309449, 19339519, 19564454, 19790256, 20337973, 22060211, 22820548, 23295292, 24430320, 24735133, 25182307, 27271189, 30155490, 30592380, 9049484, 9736233		★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	CTD_human_DG	21115832		★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	19496967, 19884385, 24606082, 25755231, 31197960, 31441606, 32971462, 35228227	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	21437567, 25755231, 33148726	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19309449, 21437567, 23799006, 24606082, 25082184, 29412391, 30465894, 31638168, 36418577	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10347805, 11112984, 15016359, 1502186, 16059790, 16173921, 16936201, 16938872, 17503332, 18271687, 18297260, 18382660, 18498634, 19309449, 19533084, 19564454, 19617908, 19903754, 20081858, 20144192, 20628598, 20682688, 21270186, 21437567, 21454522, 21720051, 22113416, 22289546, 22432108, 22611063, 22820548, 22859960, 23306198, 23771925, 23799006, 24606082, 24696842, 24728127, 26059258, 26287533, 26552609, 27106716, 27256595, 28095440, 28371533, 28387648, 28593615, 28663157, 28842611, 28934129, 29175806, 29510678, 29620215, 30259503, 30912798, 31028668, 31123324, 31571622, 31576961, 31595705, 31638168, 31924263, 32064729, 32533685, 32741144, 33046911, 33565752, 33852230, 34085361, 34373539, 34421822, 34462253, 34746319, 34803122, 35029855, 35228227, 35293603, 35592779, 35822264, 36208030, 36342518, 36383636, 36400171, 36421779, 36520489, 36637968, 36723869, 36835446, 36942376, 38353623, 39191897, 40141237, 40303645, 7913622, 8325892, 8376578, 8433729, 8446612, 9078243	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34101350	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11508276, 16059790, 19309449, 21395678, 21437567, 21521320, 21688019, 21700917, 23274891, 24549415, 24918535, 25082184, 25467089, 25987348, 26240958, 26347889, 28597946, 30155490, 30224347, 30778899, 31092478, 31214998, 7663523, 8458527		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10580439, 10588527, 10694920, 11058894, 11118007, 11189234, 11440371, 11508276, 11574410, 11692182, 12941786, 1303265, 1349989, 1354782, 1360036, 1397713, 1397724, 1464666, 15016359, 15173029, 15281001, 1545870, 15677518, 1570017, 15983230, 16059790, 1612198, 16186409, 16268330, 1644240, 16917892, 16936214, 17186219, 17937063, 17977958, 18271687, 18332101, 18436708, 18498634, 18672310, 19150152, 19241058, 19358091, 19368707, 19933992, 20172480, 20499044, 20628598, 20668700, 20724646, 21270186, 21288587, 21454522, 21688019, 21700917, 21720051, 21814873, 21978167, 22406741, 22463974, 22859960, 22928571, 23139355, 23274891, 23441155, 23799006, 23840762, 23843579, 23890519, 24430320, 24520939, 24550216, 24696842, 24720358, 24728127, 24918535, 24992032, 25074928, 25167786, 25174781, 25987348, 26106223, 26347889, 26432016, 26458049, 26620281, 27146014, 27660121, 28170077, 28191470, 28206714, 28284804, 28284809, 28327441, 28332581, 28390958, 28593615, 28800453, 29056535, 29167582, 29207974, 29410004, 29458357, 29477658, 29518630, 29670171, 29707866, 29748994, 29758564, 29989852, 29995924, 30006171, 30086370, 30087826, 30146176, 30155490, 30229274, 30245511, 30257192, 30369030, 30651321, 30949516, 31094396, 31123324, 31398075, 31818630, 7542040, 7555485, 7589847, 7619052, 7705022, 7712840, 7795649, 7821738, 7859592, 7882822, 7888697, 7913622, 7924873, 7988743, 8035658, 8068341, 8077376, 8138061, 8150222, 8163053, 8168652, 8200206, 8200207, 8261750, 8314445, 8314448, 8325443, 8325445, 8349034, 8359581, 8376578, 8433729, 8446612, 8454109, 8458527, 8458532, 8495817, 8549869, 8630009, 8712804, 8745202, 8875082, 8878425, 8894490, 9049484, 9105779, 9133559, 9243109, 9267992, 9275370, 9375718, 9653619		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12050210, 12442280, 15173029, 15928245, 17327436, 17573900, 18672310		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	15102714, 15161764, 16123366, 20081858		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22885922, 23575436		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	23575436		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	UNIPROT_DG	11372010, 25015100		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	14517946, 15580558, 16602010, 18571549, 19790256, 21518409, 21978167, 22859427, 22928571, 23155716, 24606082, 25755231, 29044608, 31197960		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	ORPHANET_DG	21844708, 22498247		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	9075802		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	24804978		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26240958		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23295292		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19241058, 22517333, 28800453, 31605429		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	31605429, 31924263	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	18271687		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26399329, 31094068	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	25892191, 9324112		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	29901137		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21490074, 26442469		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27015186		★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	29050587		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	LHGDN	14517946		★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	28891310		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	28727166		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VII	Glycogen Storage Disease	BEFREE	10867718		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 21768215, 23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Greig cephalopolysyndactyly syndrome	Greig Cephalopolysyndactyly Syndrome	BEFREE	22043488		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36151532	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	24890200	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	34630320	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	35055105	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10480597, 10525657, 10694920, 10753050, 10990085, 11118007, 11393552, 11483936, 11508276, 12173691, 1354782, 14517946, 14578306, 15677479, 15677518, 16059790, 16186409, 16444761, 17186219, 17186458, 17216282, 18297260, 18411240, 18556336, 19125755, 19187021, 19309449, 19411616, 19564454, 19934346, 20628598, 20878480, 21104275, 21348868, 21688019, 21844708, 21978167, 22432108, 22773699, 22820548, 23155715, 23269357, 23295292, 23352578, 23378612, 23433541, 23586928, 23799006, 24001579, 24092492, 24296717, 24405491, 24430320, 24503189, 24578721, 24720358, 24804978, 25344793, 25501962, 25581748, 25935773, 26106223, 27106716, 27146014, 27256595, 27289208, 28626777, 28663157, 29510678, 29704611, 30105470, 30257192, 30362177, 30535721, 30592380, 30649892, 30651321, 31011989, 31092478, 31197960, 31216263, 31571622, 31704690, 31720743, 7789637, 8035658, 8132752, 8168652, 8433729, 8591819, 8720607, 8878425, 8932999, 9049484, 9162575, 9472859, 9539292, 9662401, 9713013		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CLINVAR_DG	10753050, 11079754, 11508276, 11942313, 12442280, 14517946, 14517956, 15677479, 16444761, 16602010, 16632067, 16731834, 16965331, 17204055, 17389332, 17573900, 18382660, 18399931, 18411240, 19150152, 19187021, 19309449, 19339519, 19358091, 19564454, 19790256, 20337973, 21104275, 22035297, 22060211, 22493702, 22611063, 22820548, 23295292, 24735133, 25015100, 25182307, 27271189, 9736233		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	16059790	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16444761		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	17186458, 18556336, 19309449, 19411616, 19564454, 19903754, 20628598, 20858683, 21420961, 22761713, 22773699, 30592380, 31197960, 31576961, 32531870, 32533152, 34085361, 34406393, 34469064, 35293603, 35370948, 36178555, 37045781, 37101203, 8132752, 8433729	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CTD_human_DG	18056790		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23985558	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	10525657, 10805170, 11916951, 12475782, 15277402, 19790256, 20878480, 21454522, 26283387, 28247534, 31094068		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	CTD_human_DG	15277402		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	CTD_human_DG	15277402		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 3	Hyperinsulinemic hypoglycemia	UNIPROT_DG	11916951, 12941786, 15277402, 17082186, 19884385, 20375417, 28247534, 9435328		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 3	Hyperinsulinemic hypoglycemia	ORPHANET_DG	25733449, 9435328		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 3	Hyperinsulinemic hypoglycemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 3	Hyperinsulinemic hypoglycemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 3	Hyperinsulinemic hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	12400064, 12566718, 15868462, 19053014, 19336674, 20817212, 23271955, 24890200, 26524624, 28247534, 31092478, 7913622		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	LHGDN	15277402		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	19053014, 19336674, 20185807, 23271955, 25555642, 29493090, 35674212, 36384957, 36384997, 37725835, 39382384	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism due to glucokinase deficiency	Hyperinsulinism	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17070428, 18196929, 19282865, 31805646		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	35365700	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	10480597, 10525657, 11119017, 12941786, 14517946, 17976205, 19053014, 19336674, 19790256, 20878480, 23378612, 28390958, 29044608, 30146176, 30651321, 31011989		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	17082186, 19053014, 19336674, 19564454, 19884385, 22291974, 22298776, 22341299, 29704611, 31094068, 34635134, 35228227, 35293603, 35370948, 36384957	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	LHGDN	19146401		★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	8720607		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11112984, 20628598, 26634513, 32556615	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10194529, 19934346, 30983961, 9166666		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19053014	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	21437567		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21316027		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20144192	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29386513, 9677331		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	9468341		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36400171	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9677331		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21983831, 22867055, 26791862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26442469, 31640697		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31431460, 31640697		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21411499		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31806771		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29970880, 30590153, 31640697		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10347805, 10417964, 10525657, 10694920, 10753050, 11058894, 11106831, 11112984, 11119017, 11202217, 11272165, 11440371, 11485019, 11508276, 11554773, 12442280, 12955723, 1303265, 1349989, 1354782, 14517946, 14517956, 14580233, 14749274, 1485947, 15277402, 15657605, 15677479, 15928245, 15955369, 16026366, 16059790, 16173921, 16268330, 16632067, 16731834, 16829355, 16917892, 17186219, 17828387, 17937063, 18248649, 18297260, 18322640, 18331410, 18332101, 18436708, 18672310, 19150152, 19169489, 19358091, 19564454, 19646184, 19790256, 19934346, 20015564, 20499044, 20724646, 20878480, 21270186, 21288587, 21316027, 21395678, 21454522, 21700917, 21844708, 21978167, 22145702, 22289546, 22335469, 22493702, 22611063, 22859960, 22928571, 23009393, 23139355, 23271955, 23274891, 23586928, 23771925, 23843579, 24405491, 24447076, 24606082, 24735133, 24918535, 25012807, 25174781, 25501962, 25581748, 25935773, 25987348, 26109503, 26208450, 26226118, 27103109, 27130141, 27185633, 27256595, 27289208, 27935851, 28012402, 28170077, 28323911, 28371533, 28387648, 28593615, 28726111, 29020906, 29406598, 29408271, 30086370, 30086875, 30146176, 30229274, 30362177, 30421137, 30656436, 30778899, 30897270, 30912798, 31109344, 31216263, 31529753, 31558549, 31595705, 31638168, 31704690, 31720743, 7665557, 7758256, 7764464, 7789636, 7789637, 7795649, 7951673, 8035658, 8068341, 8168652, 8200207, 8261750, 8325443, 8349034, 8359581, 8376578, 8433729, 8458527, 8549853, 8549869, 8591819, 8745202, 8815790, 8894490, 8932999, 8945471, 9000695, 9133559, 9243109, 9294105, 9472859, 9736233, 9920109		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	CLINVAR_DG	10426385, 10525657, 10753050, 12442280, 12627330, 15277402, 16731834, 17079173, 21831042, 21921030, 22389783, 22820548, 24578721, 25015100, 25306193, 25414397, 25525159, 25555642, 27080136, 28842611, 29284910, 9049484		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	21844708, 22498247		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	BEFREE	10601964, 10754480, 17573900, 23139355, 24677712, 9097962		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	8132752	Associate	★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	9292708		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	12242462, 1354840, 16938872		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	24890200, 39215018	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35177841, 38201907	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16186409, 21688019, 25074928		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	22399527		★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	CLINVAR_DG	11942313, 14517946, 14517956, 16602010, 16731834, 16965331, 17204055, 17573900, 18399931, 19150152, 19339519, 19358091, 19564454, 19790256, 20337973, 21104275, 22035297, 22493702, 22611063, 25015100		★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	BEFREE	16268330, 21348868, 21437567, 21521320, 22035297, 22332836, 22486180, 22782286, 23295287, 24550216, 24918535, 25082184, 25494859, 26043405, 26109503, 27289208, 28247534, 28436179, 28593615, 28842611, 29758564, 30086370, 31063852, 31638168, 31753287		★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	14578306, 15644838, 16026363, 20878480, 21348868, 21437567, 22308870, 23890519, 25755231, 29329106		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	19884385		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10804288, 28784625		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24430320, 8875082		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	22095588, 23800943, 25167786, 27146014		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11289470, 17016614, 18483479, 29296001, 29620215, 29758564, 7758256		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18483479, 25060389, 27377425, 31924263, 35370948	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21411499		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20845477	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	36151532	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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Permanent neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30103849		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31806771		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24430320, 26240958		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23817999		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	30086370		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28435450	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21490074, 26442469, 29056338		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36151532	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient hypothyroxinaemia of prematurity	Transient Hypothyroxinaemia Of Prematurity	BEFREE	29073628		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	36400171	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15561107		★☆☆☆☆ Found in Text Mining only