MCID: RNL024
MIFTS: 52

Renal Glucosuria malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Renal Glucosuria

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Aliases & Descriptions for Renal Glucosuria:

Name: Renal Glucosuria 49 11 45 22 51 67 32
Renal Glycosuria 32 10 45 12
Familial Renal Glucosuria 51 24 65
Glycosuria, Renal 36 65
Glys1 22 67
 
Glucosuria, Renal 67
Sglt2 Deficiency 51
Renal Diabetes 10
Diabetes Renal 47
Glys 67

Characteristics:

Orphanet epidemiological data:

51
renal glucosuria:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

61
renal glucosuria:
Onset and clinical course: variable expressivity
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 233100
Disease Ontology10 DOID:9432
ICD1027 E74.8
ICD9CM29 271.4
MeSH36 D006030
Orphanet51 69076
ICD10 via Orphanet28 E74.8
MedGen34 C0017980
UMLS65 C0017980, C3245525

Summaries for Renal Glucosuria

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NIH Rare Diseases:45 Renal glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. with normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. however, in people with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are the primary components of the filtering units of the kidneys. in most people with renal glycosuria, there are no apparent symptoms or serious effects. rare cases of polyuria (increased urine output), enuresis (involuntary urination), and mild growth and pubertal maturational delay have been reported. when renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited in an autosomal recessive manner, caused by mutations in the  slc5a2 gene. treatment is not typically needed. last updated: 1/20/2016

MalaCards based summary: Renal Glucosuria, also known as renal glycosuria, is related to hyperglycemia and juvenile cataract-microcornea-renal glucosuria syndrome, and has symptoms including enuresis nocturna, glycosuria and polyphagia. An important gene associated with Renal Glucosuria is SLC5A2 (Solute Carrier Family 5 Member 2), and among its related pathways are Carbohydrate digestion and absorption and Hepatic ABC Transporters. Affiliated tissues include kidney, prostate and brain, and related mouse phenotypes are renal/urinary system and growth/size/body region.

OMIM:49 Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the... (233100) more...

UniProtKB/Swiss-Prot:67 Renal glucosuria: A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction.

Wikipedia:68 Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose... more...

Related Diseases for Renal Glucosuria

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Diseases related to Renal Glucosuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1hyperglycemia29.3SLC2A2, SLC5A2
2juvenile cataract-microcornea-renal glucosuria syndrome12.1
3renal cysts and diabetes syndrome10.9
4neuroblastoma10.4
5cataract, juvenile, with microcornea and glucosuria10.2
6endometriosis10.1
7pyelonephritis10.1
8thalassemia10.0
9aminoaciduria10.0
10osteogenesis imperfecta10.0
11endotheliitis9.9
12neural tube defects9.9
13hepatitis c virus9.9
14hereditary spastic paraplegia9.9
15glucose/galactose malabsorption9.9
16cataract9.9
17neuronitis9.9
18organic acidemia9.8SLC2A2, SLC5A2
19osteoporosis9.8
20osteomalacia9.8
21fanconi syndrome9.8
22nephrotic syndrome9.8
23acute pyelonephritis9.8
24acute insulin response9.8
25polyneuropathy9.8
26melanoma9.8
27hemophilia9.8
28colorectal cancer9.6
29porphyria cutanea tarda9.6
30spondyloepimetaphyseal dysplasia9.6
31coronary artery disease9.6
32achondroplasia9.6
33osteogenesis imperfecta, type iv9.6
34cystic fibrosis9.6
35anorexia nervosa9.6
36meconium ileus9.6
37insulin-like growth factor i9.6
38pancreatic cancer9.6
39pseudoachondroplasia9.6
40prolidase deficiency9.6
41androgen insensitivity9.6
42hemophilia b9.6
43hemophilia a9.6
44lipoprotein lipase deficiency9.6
45hemolytic anemia9.6
46hepatitis9.6
47insulinoma9.6
48liver cirrhosis9.6
49motor neuron disease9.6
50artery disease9.6

Comorbidity relations with Renal Glucosuria via Phenotypic Disease Network (PDN):


Chronic Kidney FailureHeart Disease

Graphical network of the top 20 diseases related to Renal Glucosuria:



Diseases related to renal glucosuria

Symptoms for Renal Glucosuria

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Symptoms by clinical synopsis from OMIM:

233100

Clinical features from OMIM:

233100

HPO human phenotypes related to Renal Glucosuria:

id Description Frequency HPO Source Accession
1 enuresis nocturna HP:0010677
2 glycosuria HP:0003076
3 polyphagia HP:0002591
4 polydipsia HP:0001959
5 polyuria HP:0000103

Drugs & Therapeutics for Renal Glucosuria

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Drugs for Renal Glucosuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Insulin-glulisineapprovedPhase 496207748-29-6
Synonyms:
 
Apidra
Apidra Solostar
2
Insulin GlargineapprovedPhase 4495160337-95-1
Synonyms:
Insulin Glargine (rDNA origin)
 
Lantus
Lantus Solostar
3Angiotensin-Converting Enzyme InhibitorsPhase 4634
4potassium phosphatePhase 1, Phase 210
5Calcium, DietaryPhase 1, Phase 24678
6Phosphorus SupplementNutraceuticalPhase 1, Phase 23
7
MetforminapprovedPhase 11645657-24-9, 1115-70-414219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
Obimet
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
8
CanagliflozinapprovedPhase 198842133-18-0
Synonyms:
1-(Glucopyranosyl)-4-methyl-3-(5-(4-fluorophenyl)-2-thienylmethyl)benzene
 
Canagliflozin hydrate
Invokana
9Hypoglycemic AgentsPhase 14503
10
Emtricitabineapproved, investigational394143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
11
Tenofovirapproved, investigational666147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
HHA & Tenofovir
 
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir Disoproxil Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
12Nucleic Acid Synthesis Inhibitors3836
13Reverse Transcriptase Inhibitors1656
14Anti-Infective Agents17220
15Antiviral Agents8071
16Anti-Retroviral Agents2794
17Fenugreek seed meal9
18insulin4278
19Insulin, Globin Zinc4278
20FenugreekNutraceutical10

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN)CompletedNCT00708981Phase 4
2Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
3A Study to Assess the Pharmacokinetics, Pharmacodynamics, and Safety of Canagliflozin (JNJ-28431754) in Volunteers With Varying Degrees of Kidney FunctionCompletedNCT01759576Phase 1
4A Comparison Of Study Drug Blood Levels After One Dose Of GSK189075 In Subjects With Normal And Reduced Kidney FunctionCompletedNCT00501462Phase 1
5Study to Assess the Pharmacokinetics, Pharmacodynamics, and Safety of Canagliflozin (JNJ-28431754) in Otherwise Healthy Obese VolunteersCompletedNCT01756404Phase 1
6The PK/PD Study of Multiple Dose of SHR3824 in Healthy VolunteersCompletedNCT02361138Phase 1
7A Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Canagliflozin in Older Children and Adolescents With Type 2 Diabetes MellitusCompletedNCT02000700Phase 1
8A First-in-Human Study of JNJ-28431754 in Healthy Male VolunteersCompletedNCT01177150Phase 1
9A Study to Assess the Pharmacokinetics and Pharmacodynamics of Canagliflozin in Healthy Chinese VolunteersCompletedNCT01707316Phase 1
10Renal, Endocrine, and Bone Changes in Response to FTC/TDF in Uninfected Young Men Who Have Sex With Men (YMSM).CompletedNCT01769469
11Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/ActionRecruitingNCT01439854
12Clinical Evaluation of Fenugreek Seed Extract, a Nutraceutical in Patients With Type- 2 DiabetesRecruitingNCT02693392
13Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965

Search NIH Clinical Center for Renal Glucosuria


Cochrane evidence based reviews: glycosuria, renal

Genetic Tests for Renal Glucosuria

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Genetic tests related to Renal Glucosuria:

id Genetic test Affiliating Genes
1 Renal Glucosuria22 SLC5A2

Anatomical Context for Renal Glucosuria

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MalaCards organs/tissues related to Renal Glucosuria:

33
Kidney, Prostate, Brain, Bone, Liver, Neutrophil, Fetal brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Renal Glucosuria:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Renal Glucosuria or affiliated genes

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MGI Mouse Phenotypes related to Renal Glucosuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1ATP6V0A4, HNF1B, SLC5A1, SLC5A2
2MP:00053787.6ATP6V0A4, HNF1B, SLC2A2, SLC5A1, SLC5A2

Publications for Renal Glucosuria

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Articles related to Renal Glucosuria:

(show all 22)
idTitleAuthorsYear
1
Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. (25896487)
2015
2
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. (25339128)
2015
3
A novel sodium-glucose co-transporter 2 gene (SGLT2) mutation contributes to the abnormal expression of SGLT2 in renal tissues in familial renal glucosuria. (24908283)
2014
4
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. (24255686)
2013
5
Hypouricaemia and hyperuricosuria in familial renal glucosuria. (26064518)
2013
6
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. (22314875)
2012
7
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. (21165652)
2011
8
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. (19965550)
2010
9
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. (18622023)
2008
10
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (18304496)
2008
11
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. (16518345)
2006
12
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
13
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. (14614622)
2004
14
Gene Symbol: SLC55A2. Disease: familial renal glucosuria. (15300967)
2004
15
Long-term outcome of renal glucosuria type 0: the original patient and his natural history. (15299100)
2004
16
Renal glucosuria due to SGLT2 mutations. (15110322)
2004
17
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. (15496564)
2004
18
Molecular analysis of the SGLT2 gene in patients with renal glucosuria. (14569097)
2003
19
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). (12436245)
2002
20
Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. (11325687)
2001
21
Renal glucosuria and aminoaciduria. (899885)
1977
22
Glucose-galactose malabsorption. Studies on renal glucosuria. (5438804)
1970

Variations for Renal Glucosuria

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UniProtKB/Swiss-Prot genetic disease variations for Renal Glucosuria:

67
id Symbol AA change Variation ID SNP ID
1SLC5A2p.Asn654SerVAR_019310rs61742739

Clinvar genetic disease variations for Renal Glucosuria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC5A2NM_003041.3(SLC5A2): c.1320G> A (p.Trp440Ter)single nucleotide variantPathogenicrs121918621GRCh37Chr 16, 31500240: 31500240
2NM_003041.3(SLC5A2): c.1961A> G (p.Asn654Ser)single nucleotide variantPathogenicrs61742739GRCh37Chr 16, 31501798: 31501798
3SLC5A2NM_003041.3(SLC5A2): c.500delA (p.Gln167Argfs)deletionPathogenicrs267607067GRCh37Chr 16, 31497522: 31497522
4SLC5A2NM_003041.3(SLC5A2): c.127-16C> Asingle nucleotide variantPathogenicrs398122801GRCh38Chr 16, 31484657: 31484657
5SLC5A2NM_003041.3(SLC5A2): c.294C> A (p.Phe98Leu)single nucleotide variantPathogenicrs398122802GRCh37Chr 16, 31496235: 31496235

Expression for genes affiliated with Renal Glucosuria

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Search GEO for disease gene expression data for Renal Glucosuria.

Pathways for genes affiliated with Renal Glucosuria

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Pathways related to Renal Glucosuria according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3SLC2A2, SLC5A1
2
Show member pathways
9.0HNF1B, SLC2A2
39.0HNF1B, SLC2A2
4
Show member pathways
9.0HNF1B, SLC2A2
5
Show member pathways
9.0HNF1B, SLC2A2
6
Show member pathways
8.9SLC2A2, SLC5A1, SLC5A2
7
Show member pathways
8.4ATP6V0A4, SLC2A2, SLC5A1, SLC5A2

GO Terms for genes affiliated with Renal Glucosuria

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Cellular components related to Renal Glucosuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163248.8ATP6V0A4, SLC2A2, SLC5A1

Biological processes related to Renal Glucosuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:00059759.5SLC5A1, SLC5A2
2glucose transportGO:00157589.1SLC2A2, SLC5A1, SLC5A2
3glucose transmembrane transportGO:19046599.1SLC2A2, SLC5A1, SLC5A2

Sources for Renal Glucosuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet