NR3C2 (nuclear receptor subfamily 3 group C member 2)

Gene

• Entrez ID: 4306
• Gene name: Nuclear receptor subfamily 3 group C member 2
• Gene symbol: NR3C2
• Synonyms (NCBI Gene): MCR, MLR, MR, NR3C2VIT
• Chromosome: 4
• Chromosome location: 4q31.23
• Summary: This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elemen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41511344	G>A,T	Pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs121912562	G>A,C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121912563	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121912564	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121912565	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs121912566	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121912567	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121912568	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121912569	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121912570	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121912571	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs121912572	G>C	Pathogenic	Stop gained, coding sequence variant, intron variant
rs121912573	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs121912574	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs748573472	G>-,GGGGGGGGGG	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, inframe insertion
rs879255348	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131691568	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131691921	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1553986377	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1560735659	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1560910156	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1560928649	A>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1560949756	T>-	Pathogenic	Intron variant
rs1578859390	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001167	hsa-miR-135a-5p	Luciferase reporter assay, qRT-PCR	19944075
MIRT001168	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	19944075
MIRT017785	hsa-miR-335-5p	Microarray	18185580
MIRT019372	hsa-miR-148b-3p	Microarray	17612493
MIRT001164	hsa-miR-19b-3p	Sequencing	20371350
MIRT441973	hsa-miR-944	PAR-CLIP	22100165
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27197190
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27197190
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27197190
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33542733
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33063403
MIRT734708	hsa-miR-4260	Luciferase reporter assay, Western blotting, Microarray, Immunoprecipitaion (IP), qRT-PCR	32338183
MIRT736360	hsa-miR-1204	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP)	32280303
MIRT732560	hsa-miR-301b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33542733
MIRT441973	hsa-miR-944	PAR-CLIP	22100165
MIRT1192760	hsa-miR-1914	CLIP-seq
MIRT1192761	hsa-miR-210	CLIP-seq
MIRT1192762	hsa-miR-3120-3p	CLIP-seq
MIRT1192763	hsa-miR-4717-3p	CLIP-seq
MIRT1192764	hsa-miR-545	CLIP-seq
MIRT1192765	hsa-miR-548ac	CLIP-seq
MIRT1192766	hsa-miR-548ae	CLIP-seq
MIRT1192767	hsa-miR-548aj	CLIP-seq
MIRT1192768	hsa-miR-548am	CLIP-seq
MIRT1192769	hsa-miR-548d-3p	CLIP-seq
MIRT1192770	hsa-miR-548p	CLIP-seq
MIRT1192771	hsa-miR-548u	CLIP-seq
MIRT1192772	hsa-miR-548x	CLIP-seq
MIRT1192773	hsa-miR-548z	CLIP-seq
MIRT1192774	hsa-miR-671-3p	CLIP-seq
MIRT1192775	hsa-miR-3148	CLIP-seq
MIRT1192776	hsa-miR-3978	CLIP-seq
MIRT1192777	hsa-miR-4760-5p	CLIP-seq
MIRT1192778	hsa-miR-889	CLIP-seq
MIRT2055985	hsa-miR-101	CLIP-seq
MIRT2055986	hsa-miR-144	CLIP-seq
MIRT2055987	hsa-miR-205	CLIP-seq
MIRT1192762	hsa-miR-3120-3p	CLIP-seq
MIRT2055988	hsa-miR-3143	CLIP-seq
MIRT2055989	hsa-miR-4494	CLIP-seq
MIRT2055990	hsa-miR-499a-5p	CLIP-seq
MIRT2055988	hsa-miR-3143	CLIP-seq
MIRT2439074	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	3037703
GO:0003707	Function	Nuclear steroid receptor activity	TAS	9662404
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	11518808, 24907116
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	3037703
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0017025	Function	TBP-class protein binding	IPI	20685853
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IBA
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0034056	Function	Estrogen response element binding	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IMP	30769772
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 600983
• HGNC: 7979
• e!Ensembl: ENSG00000151623

Protein

• UniProt ID: P08235
• Protein name: Mineralocorticoid receptor (MR) (Nuclear receptor subfamily 3 group C member 2)
• Protein function: Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion an
• PDB: 1Y9R, 1YA3, 2A3I, 2AA2, 2AA5, 2AA6, 2AA7, 2AAX, 2AB2, 2ABI, 2OAX, 3VHU, 3VHV, 3WFF, 3WFG, 4PF3, 4TNT, 4UDA, 4UDB, 5HCV, 5L7E, 5L7G, 5L7H, 5MWP, 5MWY, 6GEV, 6GG8, 6GGG, 6L88
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	601 → 670	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	757 → 946	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes. {ECO:0000269|PubMed:1151
• Sequence:

  METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
  QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
  QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
  VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN
  VENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP
  ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVP
  SPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSD
  SSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGF
  DGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSAR
  DQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS
  KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRL
  QKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVN
  TALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQV
  VKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKM
  HQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI
  KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAML
  VEIISDQLPKVESGNAKPLYFHRK

• Sequence length: 984

Pathways

KEGG:

Aldosterone-regulated sodium reabsorption

Reactome:

HSP90 chaperone cycle for steroid hormone receptors (SHR)
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors

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
Autism spectrum disorder	Pathogenic	rs121912562	RCV000754683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant pseudohypoaldosteronism type 1	Likely pathogenic; Pathogenic	rs1553986374, rs2149871784, rs2126657667, rs2149871751, rs1560928649, rs1553990750, rs2531829170, rs2531825719, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs2531835861, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570, rs121912571, rs121912572, rs121912573, rs121912574, rs2531826011, rs2530538343, rs1131691921, rs748573472, rs1553986377	RCV001375996 RCV001823793 RCV001839229 RCV002225053 RCV002288415 RCV003320392 RCV000009084 RCV000009085 RCV000009086 RCV000009087 RCV000009089 RCV000009090 RCV000009091 RCV000009092 RCV000009093 RCV000009094 RCV000009095 RCV000009096 RCV000009097 RCV000009098 RCV000009099 RCV000009100 RCV000009101 RCV000009102 RCV000009103 RCV003315122 RCV005863894 RCV001332610 RCV000625641 RCV000761320 RCV000761556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs2530538343	RCV005939006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NR3C2-related disorder	Likely pathogenic; Pathogenic	rs2530538343, rs1131691921, rs1553986377	RCV004532127 RCV004535554 RCV004702396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohyperaldosteronism type 2	Pathogenic	rs121912569, rs1131691921	RCV002496310 RCV001535946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pathogenic	rs879255348	RCV000239160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ 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	30117745		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	10772907		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31621980		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30576904, 31671309		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18063360, 8242071		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	11028898		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	17675581		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21653223	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15024728		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27197190		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	11566214, 28550025, 30654121, 30852427		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	31908177	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	11566214, 28550025, 29955235, 30654121, 30852427		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29437576		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	11740142, 16980198, 21536617, 26126204, 26892095, 28559392, 8952579, 9300202		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	36612333	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21617142, 21723914, 27881672, 28089144, 28555959, 29017166, 29668907		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23334005	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18467630, 20508287, 28555959	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21617142, 21723914, 27881672, 28089144, 28555959, 29017166, 29668907		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	20063294	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20170814, 24469458, 28571007, 29654203, 30027227, 31214914, 31711383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	36612333	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22584804		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25912394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	26749308	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29081780, 6215074		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	31464019		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	14741058	Inhibit	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19906241		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15802020		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	30243757		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	15718497	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31908177, 33148314, 33564687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38081950	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26082033	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15802020		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28349958, 31746384, 33838279, 35078194, 36741922, 36919662, 37919459	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25027872, 31549577		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	16275882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	21321305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	21321305		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15718497, 37525257, 37798313	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18277151, 19955850, 21723914, 22536780, 25335936, 25987661, 28634267, 29036418, 29127314, 29391190, 29467196, 29929989, 29957022, 29987101, 30109433, 30192914, 30380007, 30523293, 30549184, 30673886, 30678863, 30759207, 30799782, 31197761, 31271793, 31373631		★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	6223049		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29121365		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	29622372		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	21106954		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21106954, 21536617, 28634267, 31430854, 31676114		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28921054, 29437893, 29668577, 30046826		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28451852		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19029984, 20533072, 27753685, 27760997, 28196143, 28555959, 28634268, 28926607, 29017166, 29275368, 29548765, 29981797, 30107561, 30176673, 30299171, 30523293, 30989614, 31096928, 31583611, 31665724, 31665733, 31688290, 31833939, 31843235		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28949063, 29055972, 31621980		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29682743		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30300165		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32558353	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23555666		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23555666		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17703341		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23555666, 24516561, 36267311, 36532065	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35191517, 36950803	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	31821037		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	7792807		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15019274, 16145013, 16179584, 20030467, 21664417, 21784127, 22311652, 22469622, 22536780, 24486397, 25335936, 25564371, 26586027, 26932512, 27530337, 27798095, 27842179, 27868385, 27881412, 27912890, 27915044, 27942913, 28051871, 28073850, 28087688, 28155610, 28181634, 28303624, 28371247, 28401618, 28476146, 28555959, 28559389, 28577687, 28580625, 28824029, 28855452, 28911177, 28921054, 28941750, 28949063, 29017166, 29154425, 29154427, 29183646, 29274772, 29275368, 29397584, 29437893, 29468912, 29493068, 29578280, 29629731, 29668577, 29695512, 29862486, 29980521, 29981797, 30019390, 30046826, 30067937, 30074530, 30097164, 30103979, 30117745, 30121630, 30203391, 30264282, 30354367, 30486399, 30535931, 30618017, 30678863, 30806305, 30819362, 30819382, 30866680, 30893577, 30931184, 30989614, 30992400, 31030322, 31045585, 31096928, 31119996, 31214914, 31250134, 31271793, 31339232, 31364027, 31399059, 31482613, 31545830, 31599747, 31665724, 31693292, 31736333, 31779922, 31786973, 31833939, 31843235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	15722665, 21321305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	27862274, 28332881, 28420172, 30058103, 30113683		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	18058076, 20027193, 25974737, 26588848, 27862274, 28332881, 28382959, 28420172, 28422753, 28540931, 29052707, 29129576, 29150654, 29674485, 29723896, 29987110, 30027227, 30058103, 30239792, 30359120, 30854950, 30865926, 30948836, 31091693, 31488861, 31824340		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29693713		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29274772, 30045724		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26026923, 26941570, 29274772, 30045724		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26941570	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36919662	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26026923, 29274772, 30045724, 30299171		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	12943516, 31812016		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	31388769		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	11566214, 20528958, 21164267, 22832354, 24485490, 24690014, 25497375, 25765757, 26096463, 26970338, 28348114, 29879676, 30852427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	20528958, 25686805, 31908177	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	21164267, 22832354, 24485490, 24690014, 25497375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	25765757	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29789551		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29150654		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21664417, 28064163, 28341271, 29870805, 30117745, 31096928		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21664417, 28064163, 28341271, 28746811, 28966330, 29275368, 29870805, 30117745, 30312208, 31096928		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29751399, 31506348	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29781558	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27989961, 28325853, 28555959, 29781558, 30673886, 31183945, 31665733		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29781558, 32922187	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21784127, 22536780, 24603367, 28051871, 28107779, 28771453, 29781558, 30664703, 30673886, 30806972, 31248950, 31464019		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	27680666		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	25220664		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	19151144		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	28412861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies, Partial	Epilepsy	BEFREE	11077088		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	23614907	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	19325532, 19909806, 28661412, 29129576, 30027227, 30848188, 31554937, 31764584		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	30664640		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	20211973, 28325853, 29509992		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34769089	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31734653, 34769089	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	21042587		★☆☆☆☆ Found in Text Mining only
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	BEFREE	11740142, 28332881		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	29251087		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	29251087		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	BEFREE	31364027		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	28753406		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	23774812, 26586027, 28611666, 30400069, 30486399, 30992401		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	15722665, 21321305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	15722665, 25000480, 25356826, 28555959, 33549556, 37798313	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	16145013, 20030467, 21664417, 21784127, 22311652, 22469622, 22536780, 24486397, 25335936, 25564371, 26586027, 26932512, 27530337, 27798095, 27842179, 27868385, 27881412, 27912890, 27942913, 28073850, 28087688, 28181634, 28303624, 28371247, 28401618, 28476146, 28555959, 28559389, 28577687, 28580625, 28824029, 28855452, 28911177, 28941750, 28949063, 29017166, 29154425, 29154427, 29183646, 29274772, 29275368, 29397584, 29493068, 29578280, 29629731, 29695512, 29862486, 29980521, 29981797, 30019390, 30046826, 30067937, 30074530, 30097164, 30103979, 30117745, 30121630, 30203391, 30264282, 30354367, 30486399, 30535931, 30618017, 30678863, 30806305, 30819362, 30819382, 30866680, 30893577, 30931184, 30989614, 30992400, 31030322, 31045585, 31096928, 31119996, 31214914, 31250134, 31271793, 31339232, 31364027, 31399059, 31482613, 31545830, 31599747, 31665724, 31736333, 31779922, 31786973, 31833939, 31843235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure Diastolic	Heart failure	Pubtator	34569641	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	15722665, 21321305		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	23547564		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	30292562		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	21565672, 22411952, 28289182, 28734243, 29052707, 29167167, 29556729, 30027227, 30678856		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	34243750	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29437576		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27680666, 29024757		★☆☆☆☆ Found in Text Mining only
Hyperkalemia	Hyperkalemia	Pubtator	40441250	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29453308		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28918310, 29723896		★☆☆☆☆ Found in Text Mining only
Hyperpotassemia and Hypertension, Familial	Hyperpotassemia And Hypertension	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15117605, 21042587, 21342026, 22723323, 23665601, 25820244, 26203193, 31028470, 31072402, 31373631, 32222724, 37827440, 38437868, 40441250	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	Hypertension With Exacerbation In Pregnancy	UNIPROT_DG	10884226, 15908963, 15967794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	Hypertension With Exacerbation In Pregnancy	GENOMICS_ENGLAND_DG	12483305, 19325532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	Hypertension With Exacerbation In Pregnancy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	Hypertension With Exacerbation In Pregnancy	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10884226, 11496062, 11740142, 11891501, 12538613, 12852254, 14871048, 15117605, 15134816, 15363829, 15761540, 15908963, 16419642, 16778331, 16980198, 19325532, 19955850, 20720523, 21042587, 21342026, 21471972, 21536617, 21723914, 22536780, 22723323, 23275203, 23303402, 23377658, 23421989, 24487980, 25430696, 25767283, 25820244, 25974737, 26026923, 26126204, 26588848, 27334520, 27760997, 27942913, 28298295, 28348114, 28425437, 28559392, 28611666, 28634267, 28634268, 28733447, 28911177, 28974571, 29052707, 29391190, 29439489, 29655877, 29792524, 29929989, 30118343, 30192914, 30239803, 30289131, 30289132, 30359120, 30380007, 30400069, 30619769, 30631161, 30678863, 30791536, 30806972, 30826898, 30920924, 30982848, 31045585, 31373631, 31485760, 31521629, 31649313, 31705436, 31786973, 31824340, 7670488		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15908963		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	14993121, 20560006		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	30318954		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	24840884		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	LHGDN	18182467		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23555666	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23547564, 29036418		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30118343		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	23152847, 29953984		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29789551		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36808340	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21106954		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	12969137	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16145013, 19029984, 20082625, 20533072, 24603367, 27760997, 28341271, 28536123, 28541811, 28619367, 28791529, 29422652, 30063639, 30596500, 30827147, 31133455, 31529757, 31688290		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	22161301, 29981797		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29548765, 31241992, 31828668		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28451852		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20528958	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21402901, 26049084, 30854950		★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	30264282		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	15722665, 21321305		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	BEFREE	21784127		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31023570		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32338183	Inhibit	★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	11740142, 11790287, 9141514		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	30761257		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30761257		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26082033, 29149346, 30130435		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12015312, 29682743		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21319141	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	2049326	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	2049326		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	29442351		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	29121365		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	29121365		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	17360585, 19906241, 21036197, 21195417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	21036197, 21195417, 25765757, 27549215, 28589964, 29489494, 30243757, 30300165, 31757642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30619769, 31212954		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15802020		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23555666, 24651453, 25188500, 27590631, 30576904, 31621980, 31671309		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23555666		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14617569		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	19811365		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	29442351		★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	31436134		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11566214, 20528958, 21164267, 22832354, 24485490, 24690014, 25497375, 25765757, 26096463, 26970338, 28348114, 29879676, 30852427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	21164267, 22832354, 24485490, 24690014, 25497375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21164267, 22584804, 27876790		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28855315		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19800255, 20211973, 20533072, 21471972, 25966493, 27207514, 27942913, 28915330, 29556729, 29862614, 30678856		★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	10726708		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26260058		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	19906241, 24485490, 30934833		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25175068, 29081780		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	39201568	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	27798095, 31736768		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	27798095, 27881412, 30759207, 31549577		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10745258, 23127356		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	15722665, 21321305		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	16413583, 17587755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	18299485, 21677697, 21723914, 21784127, 22311652, 22536780, 28750542, 29061727, 29980521, 30543467, 30549184, 30572494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	36612333	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29029493		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12494469, 21179495, 23555666, 26082033, 27197190, 28882624, 29693713, 30858620, 31317012		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31566427		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	21164267, 9723137		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20211973, 28325853, 28452101, 29509992, 30298849		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17043670, 24222670, 27357931, 28341271, 28634267, 28838041, 28915330, 29179200, 29196758, 29440699, 29453308, 29556729, 29870805, 29875164, 30046826, 30049823, 30121579, 30231508, 30298849, 30307154, 30678856, 30827147, 31485760, 31838462		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30080647		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28710615		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	12483305, 22161301, 7792806, 7962269, 8027248		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	23985570		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25912394		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36808340	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	24690014		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	31388769		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30619769, 31212954		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	BEFREE	12483305, 1659876, 18337591, 24840884, 7792804, 7792806, 7883835, 7962269, 8027248, 8894667, 9141514		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	LHGDN	16954160		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	23762408, 25188500, 40091330, 40441250	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	10435675, 11134129, 11344206, 12788847, 14715854, 15126534, 15134810, 15345917, 15358279, 16618647, 16757525, 16954160, 16972228, 17287415, 18424465, 19344080, 20453518, 21159846, 21664233, 21903996, 21932599, 23197115, 23416952, 24712576, 25188500, 27725360, 28348114, 7593448, 9662404		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	UNIPROT_DG	11134129, 12788847, 16954160, 16972228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	GENOMICS_ENGLAND_DG	12483305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	BEFREE	12679457, 15126534, 16611713, 16757525, 16954160, 17317952, 20453518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	ORPHANET_DG	16757525, 19571553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	BEFREE	7593448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	12959913		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23547564, 29036418		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18408592		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31399972		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	16061836, 22161301, 28559392, 29154425, 29862614, 31599747		★☆☆☆☆ Found in Text Mining only
Renal pseudohypoaldosteronism type 1	Renal Pseudohypoaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	22684104		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	14741058	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30045724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	28445239, 29114023, 30463626		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	29792524		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28413970, 29556729		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	29469206		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29695512, 30893577		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20211973, 28325853, 29509992		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	2960847		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38081950	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9300202		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31704812		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	17360585, 19906241, 21036197, 21195417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	19906241, 21036197, 21195417, 25765757, 29489494, 30300165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23567325	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21319141	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	23152847		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21617142, 22684104, 27930384, 27942913, 30117098, 31425690, 31521629		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	36142571	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	31373631	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	15939817, 17517920		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	34569641, 36612333	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	36612333	Associate	★☆☆☆☆ Found in Text Mining only