Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6573
Gene name	Solute carrier family 19 member 1
Gene symbol	SLC19A1
Synonyms (NCBI Gene)	CHMDFOLTIFC-1IFC1IMD114MEGAFREFCRFCRFC1RFT-1hRFChSLC19A1
Chromosome	21
Chromosome location	21q22.3
Summary	The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051284	hsa-miR-16-5p	CLASH	23622248
MIRT048799	hsa-miR-93-5p	CLASH	23622248
MIRT045982	hsa-miR-125b-5p	CLASH	23622248
MIRT042257	hsa-miR-484	CLASH	23622248
MIRT626471	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT626470	hsa-miR-4422	HITS-CLIP	23824327
MIRT626469	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT626468	hsa-miR-607	HITS-CLIP	23824327
MIRT626467	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626471	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT626470	hsa-miR-4422	HITS-CLIP	23824327
MIRT626469	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT626468	hsa-miR-607	HITS-CLIP	23824327
MIRT626467	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1353652	hsa-miR-1224-5p	CLIP-seq
MIRT1353653	hsa-miR-124	CLIP-seq
MIRT1353654	hsa-miR-1245b-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353657	hsa-miR-1470	CLIP-seq
MIRT1353658	hsa-miR-23a	CLIP-seq
MIRT1353659	hsa-miR-23b	CLIP-seq
MIRT1353660	hsa-miR-23c	CLIP-seq
MIRT1353661	hsa-miR-3684	CLIP-seq
MIRT1353662	hsa-miR-4265	CLIP-seq
MIRT1353663	hsa-miR-4281	CLIP-seq
MIRT1353664	hsa-miR-4296	CLIP-seq
MIRT1353665	hsa-miR-4300	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT1353667	hsa-miR-4322	CLIP-seq
MIRT1353668	hsa-miR-4417	CLIP-seq
MIRT1353669	hsa-miR-4448	CLIP-seq
MIRT1353670	hsa-miR-4492	CLIP-seq
MIRT1353671	hsa-miR-4498	CLIP-seq
MIRT1353672	hsa-miR-4648	CLIP-seq
MIRT1353673	hsa-miR-4654	CLIP-seq
MIRT1353674	hsa-miR-4708-3p	CLIP-seq
MIRT1353675	hsa-miR-4725-5p	CLIP-seq
MIRT1353676	hsa-miR-4751	CLIP-seq
MIRT1353677	hsa-miR-4769-5p	CLIP-seq
MIRT1353678	hsa-miR-496	CLIP-seq
MIRT1353679	hsa-miR-499-3p	CLIP-seq
MIRT1353680	hsa-miR-499a-3p	CLIP-seq
MIRT1353681	hsa-miR-504	CLIP-seq
MIRT1353682	hsa-miR-506	CLIP-seq
MIRT1353683	hsa-miR-544b	CLIP-seq
MIRT1353684	hsa-miR-595	CLIP-seq
MIRT1353685	hsa-miR-646	CLIP-seq
MIRT1353686	hsa-miR-762	CLIP-seq
MIRT1353687	hsa-miR-920	CLIP-seq
MIRT1353688	hsa-miR-1224-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353689	hsa-miR-1260	CLIP-seq
MIRT1353690	hsa-miR-1260b	CLIP-seq
MIRT1353691	hsa-miR-1280	CLIP-seq
MIRT1353692	hsa-miR-1914	CLIP-seq
MIRT1353693	hsa-miR-199a-5p	CLIP-seq
MIRT1353694	hsa-miR-199b-5p	CLIP-seq
MIRT1353695	hsa-miR-3151	CLIP-seq
MIRT1353696	hsa-miR-3157-3p	CLIP-seq
MIRT1353697	hsa-miR-331-3p	CLIP-seq
MIRT1353698	hsa-miR-3620	CLIP-seq
MIRT1353699	hsa-miR-3657	CLIP-seq
MIRT1353700	hsa-miR-4253	CLIP-seq
MIRT1353663	hsa-miR-4281	CLIP-seq
MIRT1353701	hsa-miR-4284	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT1353702	hsa-miR-4437	CLIP-seq
MIRT1353703	hsa-miR-4447	CLIP-seq
MIRT1353704	hsa-miR-4449	CLIP-seq
MIRT1353705	hsa-miR-4472	CLIP-seq
MIRT1353706	hsa-miR-4640-5p	CLIP-seq
MIRT1353707	hsa-miR-4676-5p	CLIP-seq
MIRT1353708	hsa-miR-4688	CLIP-seq
MIRT1353709	hsa-miR-4721	CLIP-seq
MIRT1353710	hsa-miR-4726-5p	CLIP-seq
MIRT1353711	hsa-miR-491-5p	CLIP-seq
MIRT1353712	hsa-miR-532-3p	CLIP-seq
MIRT1353713	hsa-miR-575	CLIP-seq
MIRT1353700	hsa-miR-4253	CLIP-seq
MIRT1353714	hsa-miR-4316	CLIP-seq
MIRT1353707	hsa-miR-4676-5p	CLIP-seq
MIRT1353708	hsa-miR-4688	CLIP-seq
MIRT1353713	hsa-miR-575	CLIP-seq
MIRT2104643	hsa-miR-4753-5p	CLIP-seq
MIRT2329130	hsa-miR-1207-5p	CLIP-seq
MIRT1353688	hsa-miR-1224-3p	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT2329131	hsa-miR-146b-3p	CLIP-seq
MIRT2329132	hsa-miR-1909	CLIP-seq
MIRT2329133	hsa-miR-22	CLIP-seq
MIRT2329134	hsa-miR-2355-5p	CLIP-seq
MIRT2329135	hsa-miR-29a	CLIP-seq
MIRT2329136	hsa-miR-29b	CLIP-seq
MIRT2329137	hsa-miR-29c	CLIP-seq
MIRT2329138	hsa-miR-3173-5p	CLIP-seq
MIRT2329139	hsa-miR-335	CLIP-seq
MIRT2329140	hsa-miR-3659	CLIP-seq
MIRT2329141	hsa-miR-3663-3p	CLIP-seq
MIRT2329142	hsa-miR-3714	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT2329143	hsa-miR-4436b-3p	CLIP-seq
MIRT2329144	hsa-miR-451b	CLIP-seq
MIRT2329145	hsa-miR-4658	CLIP-seq
MIRT2329146	hsa-miR-4701-5p	CLIP-seq
MIRT2329147	hsa-miR-4716-3p	CLIP-seq
MIRT2329148	hsa-miR-4738-5p	CLIP-seq
MIRT2329149	hsa-miR-4763-3p	CLIP-seq
MIRT1353683	hsa-miR-544b	CLIP-seq
MIRT2329150	hsa-miR-574-5p	CLIP-seq
MIRT2329151	hsa-miR-588	CLIP-seq
MIRT2329152	hsa-miR-625	CLIP-seq
MIRT2329153	hsa-miR-663b	CLIP-seq
MIRT2329154	hsa-miR-874	CLIP-seq
MIRT1353655	hsa-miR-125a-5p	CLIP-seq
MIRT1353656	hsa-miR-125b	CLIP-seq
MIRT1353693	hsa-miR-199a-5p	CLIP-seq
MIRT1353694	hsa-miR-199b-5p	CLIP-seq
MIRT2394623	hsa-miR-3160-3p	CLIP-seq
MIRT1353697	hsa-miR-331-3p	CLIP-seq
MIRT1353699	hsa-miR-3657	CLIP-seq
MIRT1353666	hsa-miR-4319	CLIP-seq
MIRT2394624	hsa-miR-4487	CLIP-seq
MIRT2394625	hsa-miR-4774-5p	CLIP-seq
MIRT2394626	hsa-miR-558	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
CEBPB	Activation	15652157
CREB1	Unknown	11078737
JUN	Unknown	11078737
SP1	Activation	15652157
TFAP2A	Activation	12228234
USF1	Activation	15214842
USF2	Activation	15214842

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005542	Function	Folic acid binding	IBA
GO:0005542	Function	Folic acid binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23137377, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7826387
GO:0006855	Process	Xenobiotic transmembrane transport	IEA
GO:0006855	Process	Xenobiotic transmembrane transport	ISS
GO:0007565	Process	Female pregnancy	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	ISS
GO:0008517	Function	Folic acid transmembrane transporter activity	IDA	36071163, 36265513, 36575193
GO:0008517	Function	Folic acid transmembrane transporter activity	IEA
GO:0008517	Function	Folic acid transmembrane transporter activity	ISS
GO:0008517	Function	Folic acid transmembrane transporter activity	TAS	7826387
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IBA
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IDA	14609557, 22554803
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IEA
GO:0008518	Function	Folate:monoatomic anion antiporter activity	IMP	28885847
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0015297	Function	Antiporter activity	IDA	22554803
GO:0015297	Function	Antiporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	IDA	22554803
GO:0015350	Function	Methotrexate transmembrane transporter activity	IEA
GO:0015350	Function	Methotrexate transmembrane transporter activity	TAS	8276792
GO:0015711	Process	Organic anion transport	IEA
GO:0015711	Process	Organic anion transport	ISS
GO:0015884	Process	Folic acid transport	IEA
GO:0015884	Process	Folic acid transport	IMP	28885847
GO:0015884	Process	Folic acid transport	ISS
GO:0015884	Process	Folic acid transport	TAS	7826387
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	10787414, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	10787414, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0031526	Component	Brush border membrane	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS
GO:0046655	Process	Folic acid metabolic process	TAS
GO:0051180	Process	Vitamin transport	IEA
GO:0051958	Process	Methotrexate transport	IDA	22554803
GO:0051958	Process	Methotrexate transport	IEA
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	IDA	31126740, 31511694
GO:0090482	Function	Vitamin transmembrane transporter activity	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098838	Process	Folate transmembrane transport	IBA
GO:0098838	Process	Folate transmembrane transport	IDA	22554803
GO:0098838	Process	Folate transmembrane transport	IEA
GO:0140360	Function	Cyclic-GMP-AMP transmembrane transporter activity	IDA	31126740, 31511694
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IDA	31126740, 31511694
GO:0141111	Process	Positive regulation of cGAS/STING signaling pathway	IMP	36745868
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:0150104	Process	Transport across blood-brain barrier	TAS	28885847
GO:1904447	Process	Folate import across plasma membrane	IDA	14609557, 22554803
GO:1904447	Process	Folate import across plasma membrane	IEA

MIM	HGNC	e!Ensembl
600424	10937	ENSG00000173638

P41440

Protein name

Reduced folate transporter (FOLT) (Cyclic dinucleotide:anion antiporter SLC19A1) (Folate:anion antiporter SLC19A1) (Intestinal folate carrier 1) (IFC-1) (Placental folate transporter) (Reduced folate carrier protein) (RFC) (hRFC) (Reduced folate transport

Protein function

Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:22554803, PubMed:31126740, PubMed:31511694, PubMed:3227

PDB

7TX6 , 7TX7 , 7XPZ , 7XQ0 , 7XQ1 , 7XQ2 , 7XTK , 8DEP , 8GOE , 8GOF , 8HII , 8HIJ , 8HIK , 9JOZ , 9JRI , 9JRK , 9JRL , 9JRM , 9JRN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01770	Folate_carrier	23 → 434	Reduced folate carrier	Family

Tissue specificity

TISSUE SPECIFICITY: Placenta, liver, and to a much smaller extent, in lung. {ECO:0000269|PubMed:7826387}.

Sequence

MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFT
REQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQ
LMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRV
SFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRGRCETSASELERMNPGPGGKLGH
ALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTN
SARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPS
SIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKA
AQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPV
TTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ

Sequence length

591

Interactions

View interactions

	KEGG		Reactome
	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism		Metabolism of folate and pterines

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 114, folate-responsive	Pathogenic	rs2077855956	RCV003444103	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (43)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISCORDANT VENTRICULOARTERIAL CONNECTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, PRIMARY CLOSED ANGLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KNOBLOCH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KNOBLOCH SYNDROME, TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic anemia, folate-responsive	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methotrexate response - Efficacy	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC19A1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (240)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	31452789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15630450, 16462575, 18385010, 19020309, 19775302, 20824655, 21509569, 21657963, 22838948, 22914600, 23986219, 24927955, 29345051, 31499477, 9748136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22729036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21274745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	21274745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	19353223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15630450, 18385010, 19020309, 21657963, 22838948, 24927955, 9748136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	25599563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24554143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	34537679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20871623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	20871623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22450926, 25599563, 26587663, 30175777, 34302046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32910249, 33495376, 33884451, 35001451, 35864213, 37578187, 38487929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30609236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	20718043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	20718043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28250422, 29407547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27213354	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27213354, 28536923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16917939, 20468076		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	20468076, 28536923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20468076, 27213354	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral Vestibulopathy	Bilateral Vestibulopathy	BEFREE	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	CTD_human_DG	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	30926972, 33884451, 33969391, 35502508, 36805468, 37460231, 38381176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17311259, 21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	20335220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	25659099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17180579, 17311260, 18204969, 20670164, 21105050, 21161404, 21792634, 22134752, 23197647, 24130171, 25598430, 25648260, 28747156, 28940489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24130171, 25598430, 31544789, 32894086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27782152, 27936032, 34022962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17311259, 21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15922487, 27380948, 30939165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19650776, 29944969, 30575426, 31264765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19650776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	33884451, 33969391, 35502508, 36805468, 38487929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	ORPHANET_DG	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME	Cerebellar ataxia, neuropathy and vestibular areflexia syndrome	BEFREE	30926972, 31230722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34927205, 37460231, 38381176, 40461673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	25659099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25659099, 29702499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	31770124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12454742, 15630450, 18385010, 18458567, 19020309, 19651439, 21657963, 22838948, 24367687, 24597986, 24927955, 31499477, 31786878, 9748136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17255265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	33495376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	16019224, 24942095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15705887, 18926688		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14676127, 19172696, 20037791, 20573375, 24100087, 25697897, 26193446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	16963246		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17449906, 24143213, 25697897, 26193446, 33172410	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19172696		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	31297992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	33684136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16019224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital idiopathic intestinal pseudoobstruction	Congenital idiopathic intestinal pseudoobstruction	Pubtator	34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	15937947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28894748, 29061576, 29735306, 30091169, 30575426, 30609236, 31081589, 31337395, 31676303, 31747132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	24585533, 30165839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	24585533, 30165839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22147344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16019224, 20718043, 23701284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	33969391, 34927205, 38487929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	38193360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	24554143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	24554143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	37853169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11818404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11818404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31797865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28605608, 29133604, 29196150, 29297732, 29526832, 29693360, 29941478, 29944969, 30575426, 31114700, 31410779, 31676303, 31725011, 31729107, 31747132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31337395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15327516, 18028428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	15068242, 18273817		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	16115349, 16596679, 16845273, 17702010, 18273817, 19274320, 19729796, 20718043, 20868477, 21045269, 23430030, 23857226, 24068460, 29130768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	CTD_human_DG	16845273, 17431899		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	20868477, 21045269, 22377700, 33933170	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome, Partial Trisomy 21	Down Syndrome	CTD_human_DG	16845273, 17431899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	37460231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33495376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	31786878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	25041994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	37201763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	18629538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25227144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycoprotein Storage Disease	Glycoprotein storage disease	Pubtator	37853169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20574454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	25425682	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23276522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23276522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	20718043, 33684136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28894748, 29061576, 29735306, 30091169, 30575426, 30609236, 31081589, 31337395, 31676303, 31747132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	25041994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21984221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CTD_human_DG	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	33884451, 33969391, 37853169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary, Type VII, Motor and Sensory Neuropathy	Motor and Sensory Neuropathy	CTD_human_DG	30926972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28950391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	12915598, 21878957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19776634, 30066584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35958555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22890010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19324355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	18799873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25659099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	22859359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31725011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Knobloch Syndrome, Type I	Knobloch syndrome	CLINVAR_DG	25456301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17255265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	23838799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12454742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12519783, 16160003, 20335220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	8664315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26950655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21509569, 27380948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15922487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30939165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31544789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24333266, 25648260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	1092166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15327516, 18379939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16462575, 18458567, 21509569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18028428, 18458567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15198953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	17180579, 17311260, 18204969, 20670164, 21105050, 21161404, 21792634, 22134752, 23197647, 24130171, 25598430, 25648260, 28747156, 28940489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23555315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16962770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27782152, 27936032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15922487, 27380948, 30939165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	21849791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30396163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16962770, 23197647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17311259, 21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21760912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18028428, 20651609, 20661649, 21760912, 21984221, 24771227, 25697897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15705887, 18926688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23659246	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	18447718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	20683905, 26250961, 28948692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28945836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	28415584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26959650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23952215, 35958555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	24412677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	33495376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	30926972, 34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26950655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29702499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	40113266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nance-Horan syndrome	Nance-Horan Syndrome	BEFREE	9689927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14551190, 18039426, 19501504, 21760912, 25697897, 25860940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	25536437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33884451, 35864213, 38193360, 38487929	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	21064136		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	11813127, 12673279, 12855225, 15799025, 18022874, 19105199, 19650776, 22975209, 23417011, 23593147, 24917213, 28770393, 28948692, 30867013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	LHGDN	12673279, 12855225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	15060097, 19650776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24771227, 25536437, 25860940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25536437, 25860940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18181001, 20651609, 22729036, 29662106, 29682186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus Pathologic	Nystagmus	Pubtator	33495376, 37460231, 38381176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21514551, 28106509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28106509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	GWASCAT_DG	30787463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32498429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12576457, 14582536, 14679136, 18028428, 19159907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	14584080, 15469899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CTD_human_DG	19159907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23144806	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26464638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	16963246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22890010, 25648260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASDB_DG	22105264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27213354, 28536923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31482954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	33884451, 33969391, 37460231, 38381176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	9748136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12411325, 15297414, 18458567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16462575, 18458567, 22914600, 23986219, 24927955, 31499477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	17255265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	15327516, 20237949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	33495376, 34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30396163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30396163, 33414468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	14679136, 20310006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15457444, 17325736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15564880, 17325736, 17404734, 17965559, 22450926, 22971639, 23148635, 24350725, 24782176, 25771854, 26003891, 26587663, 27233001, 28296761, 31099054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35483337	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	24143213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30716446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	33969391, 37853169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22186609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	31230722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	11857541, 12855225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	11857541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	BEFREE	14616766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	21113649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22729036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20661649, 22051736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16962770, 23197647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	25041994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy 21, Meiotic Nondisjunction	Trisomy 21	CTD_human_DG	16845273, 17431899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy 21, Mitotic Nondisjunction	Trisomy 21	CTD_human_DG	16845273, 17431899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	25858821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21760912	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24089416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19389243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	34927205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25536437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC19A1 (solute carrier family 19 member 1)