SLC22A4 (solute carrier family 22 member 4)

Gene

• Entrez ID: 6583
• Gene name: Solute carrier family 22 member 4
• Gene symbol: SLC22A4
• Synonyms (NCBI Gene): DFNB60, ETTh, OCTN1
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT1354527	hsa-miR-1182	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354529	hsa-miR-193a-5p	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT1354532	hsa-miR-515-5p	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT2623859	hsa-miR-1251	CLIP-seq
MIRT2623860	hsa-miR-1305	CLIP-seq
MIRT2623861	hsa-miR-3173-3p	CLIP-seq
MIRT2623862	hsa-miR-3617	CLIP-seq
MIRT2623863	hsa-miR-4307	CLIP-seq
MIRT2623864	hsa-miR-4422	CLIP-seq
MIRT2623865	hsa-miR-4428	CLIP-seq
MIRT2623866	hsa-miR-4452	CLIP-seq
MIRT2623867	hsa-miR-498	CLIP-seq
MIRT2623868	hsa-miR-522	CLIP-seq
MIRT2623869	hsa-miR-641	CLIP-seq
MIRT2623859	hsa-miR-1251	CLIP-seq
MIRT2623860	hsa-miR-1305	CLIP-seq
MIRT2623861	hsa-miR-3173-3p	CLIP-seq
MIRT2623862	hsa-miR-3617	CLIP-seq
MIRT2623863	hsa-miR-4307	CLIP-seq
MIRT2623864	hsa-miR-4422	CLIP-seq
MIRT2623865	hsa-miR-4428	CLIP-seq
MIRT2623866	hsa-miR-4452	CLIP-seq
MIRT2623867	hsa-miR-498	CLIP-seq
MIRT2623868	hsa-miR-522	CLIP-seq
MIRT2623869	hsa-miR-641	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RUNX1	Unknown	15184985;17142562;18328148

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000101	Process	Sulfur amino acid transport	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005277	Function	Acetylcholine transmembrane transporter activity	IDA	22569296
GO:0005515	Function	Protein binding	IPI	15523054
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16729965
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	IC	9426230
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9426230
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007595	Process	Lactation	IEA
GO:0008513	Function	Secondary active organic cation transmembrane transporter activity	TAS
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009925	Component	Basal plasma membrane	IDA	35307651
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015101	Function	Organic cation transmembrane transporter activity	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	23567998
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IDA	33124720
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IEA
GO:0015226	Function	Carnitine transmembrane transporter activity	IDA	16729965
GO:0015226	Function	Carnitine transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IBA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IDA	9426230, 23567998
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IEA
GO:0015697	Process	Quaternary ammonium group transport	IBA
GO:0015697	Process	Quaternary ammonium group transport	IDA	9426230, 23567998
GO:0015697	Process	Quaternary ammonium group transport	IEA
GO:0015697	Process	Quaternary ammonium group transport	IEA
GO:0015879	Process	Carnitine transport	IDA	16729965
GO:0015879	Process	Carnitine transport	IEA
GO:0015879	Process	Carnitine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	18641280, 20601551
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	IPI	15523054
GO:0031966	Component	Mitochondrial membrane	IDA	16729965
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033280	Process	Response to vitamin D	IEA
GO:0042908	Process	Xenobiotic transport	IDA	23567998
GO:0042908	Process	Xenobiotic transport	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0051630	Process	Acetylcholine uptake	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0089718	Process	Amino acid import across plasma membrane	IDA	23567998
GO:0097421	Process	Liver regeneration	IEA
GO:1902603	Process	Carnitine transmembrane transport	IEA

Other IDs

• MIM: 604190
• HGNC: 10968
• e!Ensembl: ENSG00000197208

Protein

• UniProt ID: Q9H015
• Protein name: Solute carrier family 22 member 4 (Ergothioneine transporter) (ET transporter) (ETTh) (Organic cation/carnitine transporter 1) (OCTN1)
• Protein function: Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:10215651, PubMed:15107849, PubMed:15795384, PubMed:16729965, PubMed:20601551, PubMed:22206629, PubMed:22569296, PubMed:29530864). Functio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	107 → 522	Sugar (and other) transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:9426230). Highly expressed in kidney, trachea, ileum, bone marrow and whole blood (PubMed:15795384, PubMed:9426230). Expressed in small intestines (PubMed:20601551). Weakly expressed in skeletal muscle, prostat
• Sequence:

  MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSS
  AWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
  QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQ
  TGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFA
  VGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
  AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALS
  LDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV
  DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVY
  LGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMET
  EENPKVLITAF

• Sequence length: 551

Pathways

KEGG:

Choline metabolism in cancer

Reactome:

Organic cation transport

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
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEARING DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hearing loss and deafness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid arthritis	risk factor	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SLC22A4 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC22A4-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	31813683		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	14608356		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15693005, 15751072, 16255050, 16484987, 16796743, 25707686, 26329403	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16519819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	22952014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15184985, 15883854, 16249223, 16271291, 26329403		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16249223, 16796743, 26329403	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23674219		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carditis	Carditis	CTD_human_DG	21641380		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15245375		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35962388	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	30731277, 30735677		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	20031577	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16469794, 39328405	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21079743	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21793125, 28243990		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29901123		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	12535646, 15107849, 15245375, 15503241, 15685536, 15693005, 15751072, 15795384, 15883854, 15930978, 15955786, 16246312, 16255050, 16333318, 16344054, 16361305, 16373276, 16437728, 16441470, 16469794, 16484987, 16519742, 16670523, 16724073, 16771961, 16835882, 17006998, 17213842, 17340776, 17786191, 18162085, 18668679, 18715515, 19412005, 19660151, 20031577, 21122496, 21279723, 21674708, 21695374, 21706137, 21816865, 22206629, 22325173, 26329403, 28066136		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	15107849, 15685536, 16333318, 16437728, 17451203		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15693005, 16255050, 16361305, 16437728, 16469794, 16484987, 16796743, 17006998, 17451203, 17786191, 18614543, 18715515, 20031577, 21816865, 22206629, 22411504, 26329403	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	17804789		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	23419067		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	26003890		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16796743	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36528847	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15883854, 16796743		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	16246312		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	LHGDN	16246312		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	23127916		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	16519819	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	26329403		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	26329403		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34194829	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29901123	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24587332		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 5	Inflammatory bowel disease	Pubtator	22440928	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15930978, 16246312, 16361305, 16469794, 16519742, 17786191, 18274826, 18756601, 20224991, 21122496, 21279723, 21695374, 25314644, 28243990, 30280275		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	16246312, 16773684, 18756601		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16469794, 23474282, 25314644	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39181687	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15184985		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32905646	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28209616		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	27023905		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29678179	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31591905		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16519819	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15184985, 15883854, 16249223		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	40457357	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16519819	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28420426		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	CTD_human_DG	21641380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31047719		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28768995		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	16246312		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	LHGDN	16246312		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29981320, 30295925		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29981320, 30295925		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33677043	Associate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	22440928		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15184985, 16484987, 20031577, 26613086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	16519819, 18614543, 26613086	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29678179	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	21922592		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	28130967		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28130967		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	28130967		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14608356, 15184985, 15245375, 15693005, 15751072, 15795384, 15838240, 15883854, 16255050, 16484987, 16652416, 16821265, 18328148, 18709696, 22952014, 24599653, 25707686, 26329403, 30177313		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	14608356, 15184985, 18087673, 18328148, 18709696		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GENOMICS_ENGLAND_DG	24816252		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Skin Erosion	Skin Erosion	BEFREE	25707686		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	38538269	Associate	★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	19528813	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15955786, 16344054, 16441470, 16469794, 17387389, 17786191, 18668679, 21122496, 21279723, 21793125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	28688036		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only