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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6523
Gene name	Solute carrier family 5 member 1
Gene symbol	SLC5A1
Synonyms (NCBI Gene)	D22S675NAGTSGLT-1SGLT1
Chromosome	22
Chromosome location	22q12.3
Summary	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associa

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912668	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs121912669	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs201799893	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs774651252	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs779502629	C>T	Pathogenic	Coding sequence variant, stop gained
rs1455367784	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

110

Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018696	hsa-miR-335-5p	Microarray	18185580
MIRT1365357	hsa-miR-1	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365360	hsa-miR-206	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365364	hsa-miR-3668	CLIP-seq
MIRT1365365	hsa-miR-3673	CLIP-seq
MIRT1365366	hsa-miR-3914	CLIP-seq
MIRT1365367	hsa-miR-3919	CLIP-seq
MIRT1365368	hsa-miR-3928	CLIP-seq
MIRT1365369	hsa-miR-432	CLIP-seq
MIRT1365370	hsa-miR-4436b-5p	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365372	hsa-miR-4443	CLIP-seq
MIRT1365373	hsa-miR-4450	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365378	hsa-miR-4756-3p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT1365383	hsa-miR-613	CLIP-seq
MIRT1365384	hsa-miR-765	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1553802	hsa-miR-323b-3p	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1553803	hsa-miR-4517	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT2108437	hsa-miR-135a	CLIP-seq
MIRT2108438	hsa-miR-135b	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT2108439	hsa-miR-3158-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT2108440	hsa-miR-3192	CLIP-seq
MIRT1553802	hsa-miR-323b-3p	CLIP-seq
MIRT2108441	hsa-miR-3920	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT2108442	hsa-miR-4474-5p	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1553803	hsa-miR-4517	CLIP-seq
MIRT2108443	hsa-miR-4643	CLIP-seq
MIRT2108444	hsa-miR-4717-3p	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT2108445	hsa-miR-4762-3p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT2108446	hsa-miR-514	CLIP-seq
MIRT2108447	hsa-miR-514b-3p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT2108437	hsa-miR-135a	CLIP-seq
MIRT2108438	hsa-miR-135b	CLIP-seq
MIRT2332176	hsa-miR-2113	CLIP-seq
MIRT2108441	hsa-miR-3920	CLIP-seq
MIRT2332177	hsa-miR-3925-3p	CLIP-seq
MIRT2332178	hsa-miR-3941	CLIP-seq
MIRT2108442	hsa-miR-4474-5p	CLIP-seq
MIRT2108443	hsa-miR-4643	CLIP-seq
MIRT2332179	hsa-miR-466	CLIP-seq
MIRT2332180	hsa-miR-4672	CLIP-seq
MIRT2332181	hsa-miR-4677-3p	CLIP-seq
MIRT2332182	hsa-miR-4679	CLIP-seq
MIRT2332183	hsa-miR-4712-5p	CLIP-seq
MIRT2108444	hsa-miR-4717-3p	CLIP-seq
MIRT2332184	hsa-miR-4729	CLIP-seq
MIRT2108445	hsa-miR-4762-3p	CLIP-seq
MIRT2332185	hsa-miR-4789-3p	CLIP-seq
MIRT2332186	hsa-miR-770-5p	CLIP-seq
MIRT1365358	hsa-miR-1299	CLIP-seq
MIRT1365359	hsa-miR-134	CLIP-seq
MIRT1365361	hsa-miR-3118	CLIP-seq
MIRT2394792	hsa-miR-3120-3p	CLIP-seq
MIRT1365362	hsa-miR-3136-5p	CLIP-seq
MIRT1365363	hsa-miR-3164	CLIP-seq
MIRT1365371	hsa-miR-4439	CLIP-seq
MIRT1365374	hsa-miR-4481	CLIP-seq
MIRT1365375	hsa-miR-4501	CLIP-seq
MIRT1365376	hsa-miR-4513	CLIP-seq
MIRT1365377	hsa-miR-4745-5p	CLIP-seq
MIRT1365379	hsa-miR-4758-5p	CLIP-seq
MIRT1365380	hsa-miR-4764-5p	CLIP-seq
MIRT1365381	hsa-miR-4782-5p	CLIP-seq
MIRT1365382	hsa-miR-516b	CLIP-seq
MIRT2394793	hsa-miR-545	CLIP-seq
MIRT2394794	hsa-miR-628-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GATA5	Unknown	18656622
PER1	Repression	22526585

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000017	Process	Alpha-glucoside transport	IDA	20980548
GO:0000017	Process	Alpha-glucoside transport	IMP	17130520
GO:0000017	Process	Alpha-glucoside transport	ISS
GO:0001951	Process	Intestinal D-glucose absorption	ISS
GO:0005354	Function	Galactose transmembrane transporter activity	ISS
GO:0005367	Function	Myo-inositol:sodium symporter activity	ISS
GO:0005372	Function	Water transmembrane transporter activity	IDA	14695256, 26945065, 34880492
GO:0005412	Function	D-glucose:sodium symporter activity	IBA
GO:0005412	Function	D-glucose:sodium symporter activity	IDA	8563765, 8836035, 20980548, 34880492, 35077764
GO:0005412	Function	D-glucose:sodium symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	18455122
GO:0005769	Component	Early endosome	IDA	12773314
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26945065
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8563765
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IBA
GO:0006814	Process	Sodium ion transport	IEA
GO:0015146	Function	Pentose transmembrane transporter activity	ISS
GO:0015150	Function	Fucose transmembrane transporter activity	ISS
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	IDA	20980548
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	IMP	17130520
GO:0015151	Function	Alpha-glucoside transmembrane transporter activity	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015370	Function	Solute:sodium symporter activity	IEA
GO:0015371	Function	Galactose:sodium symporter activity	IDA	34880492, 35077764
GO:0015750	Process	Pentose transmembrane transport	ISS
GO:0015756	Process	Fucose transmembrane transport	ISS
GO:0015757	Process	Galactose transmembrane transport	ISS
GO:0015798	Process	Myo-inositol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	12773314
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0035377	Process	Transepithelial water transport	IDA	26945065
GO:0035623	Process	Renal D-glucose absorption	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12773314
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	20980548, 26945065
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097708	Component	Intracellular vesicle	TAS	14986005
GO:0098708	Process	D-glucose import across plasma membrane	IDA	20980548, 26945065
GO:0098708	Process	D-glucose import across plasma membrane	IGI	23975336
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	20980548
GO:0106001	Process	Intestinal hexose absorption	TAS
GO:0150104	Process	Transport across blood-brain barrier	IGI	23975336
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902476	Process	Chloride transmembrane transport	IDA	10973981
GO:1904659	Process	D-glucose transmembrane transport	IDA	8836035
GO:1904659	Process	D-glucose transmembrane transport	IMP	8563765

MIM	HGNC	e!Ensembl
182380	11036	ENSG00000100170

P13866

Protein name

Sodium/glucose cotransporter 1 (Na(+)/glucose cotransporter 1) (High affinity sodium-glucose cotransporter) (Solute carrier family 5 member 1)

Protein function

Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient se

PDB

7SL8 , 7SLA , 7WMV , 7YNI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00474	SSF	58 → 492	Sodium:solute symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in intestine (PubMed:2490366). Expressed in endometrial cells (PubMed:28974690). {ECO:0000269|PubMed:2490366, ECO:0000269|PubMed:28974690}.

Sequence

MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFL
AGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIY
IKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLA
IFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQR
CLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVG
CTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEK
ELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRV
NEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFIT
IVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKG
IFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCH
AYFA

Sequence length

664

Interactions

View interactions

	KEGG		Reactome
	Carbohydrate digestion and absorption Bile secretion Mineral absorption		Cellular hexose transport Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) Intestinal hexose absorption

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital glucose-galactose malabsorption	Likely pathogenic; Pathogenic	rs2149487756, rs2149492476, rs2149496680, rs764766115, rs765502638, rs927157864, rs2517662048, rs2517673510, rs764819816, rs121912668, rs933026071, rs1203557575, rs200105615, rs774829996, rs2517677261 View all (8 more)	RCV001783772 RCV002028061 RCV001957397 RCV002018577 RCV001918499 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC5A1-related disorder	Likely pathogenic; Pathogenic	rs933026071, rs1203557575, rs1046576892, rs200401846, rs779502629	RCV003414526 RCV003391669 RCV003408416 RCV003403455 RCV003411931	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOSURIA, RENAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (97)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	LHGDN	18853313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28454747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	28192456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	28192456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30286918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	9274472	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31199048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32377271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35090421	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37304236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30101852, 31698522, 31776072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32998746	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29512713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27941935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28174043, 30503674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29253858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	10036327, 11406349, 12139397, 18288487, 19965550, 2008213, 20486940, 21049241, 22383112, 22843301, 28152538, 28753187, 29859847, 30286918, 31081587, 31415402, 8563765, 8844006 View all (3 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	UNIPROT_DG	10036327, 11406349, 2008213, 8195156		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	ORPHANET_DG	12139397, 8563765		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congestive heart failure	Congestive Heart Failure	BEFREE	30286918, 31776072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19509029, 31277431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27773781, 28419670, 29212386, 30240793, 30286918, 30484350, 30551357, 30724002, 31064765, 31698522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	11804845	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23375266, 27773781, 28419670, 29212386, 30240793, 30286918, 30291295, 30484350, 30551357, 30724002, 31064765, 31698522, 31828140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30286918, 30291295, 33254575, 35839537, 36585034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	11804845	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15662550, 28034463, 29794497, 29937430, 29937431, 29991320, 30398618, 30967375, 31183975, 31415414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11804845, 19509029, 27012770, 28034463, 28395363, 28419670, 28477418, 28938485, 29110392, 30297284, 31423699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36314849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30864838, 31545924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	8195156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32236143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial renal glucosuria	Renal Glucosuria	BEFREE	19965550, 21049241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	19965550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31545924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucose-galactose malabsorption	Glucose-Galactose Malabsorption	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	35839537	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	30286918, 31776072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30286918, 30291295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32998746	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	16843877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28128227, 28938485, 29674332, 29859847, 30286918, 30867247, 30878385, 31081593, 31166707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	30286918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31091127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertonic dehydration	Hypertonic dehydration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30101852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30101852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	35334035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29663292, 31081593, 31183975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39519277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	BEFREE	31261244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	30101852, 31776072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31545924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32998746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30995111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27178057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31652578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32377271	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	31091127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31199048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11509120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31114359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27773781, 29329760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28192456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	28192456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27012770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30537749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	28034463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29981571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30291295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19509029, 31277431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29253858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21607591, 23418532, 27178057, 30521176, 31199048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	18288487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30089592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23375266, 24990218, 29446938, 30286918, 30724002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24990218, 30286918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28811552	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31115489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35361267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31114359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35090421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30995111		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	17686765, 27773781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31536570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21607591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21607591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34774990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31199048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31199048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23418532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	32236143	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	29307883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC5A1 (solute carrier family 5 member 1)