CSNU
MCID: CYS013
MIFTS: 79

Cystinuria (CSNU) malady

Nephrological diseases, Metabolic diseases categories

Summaries for Cystinuria

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Cystinuria is an inherited condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. cystine is an amino acid, one of the building blocks of proteins. as the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. people with cystinuria cannot properly reabsorb cystine into their bloodstream and the amino acid accumulates in their urine, eventually forming crystals. as these crystals become larger, they form stones that may lodge in the kidneys or in the bladder. sometimes cystine crystals combine with calcium molecules in the kidneys to form larger stones. these crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. the stones also provide sites where bacteria may cause infections. cystinuria is caused by mutations in the slc3a1 and slc7a9 genes. it is inherited in an autosomal recessive pattern. the goal of treatment is to relieve symptoms and prevent more stones. last updated: 7/15/2013

MalaCards: Cystinuria, also known as CSNU, is related to nephrolithiasis and hartnup disease, and has symptoms including urinary/renal lithiasis/kidney stones/nephritic colic, hematuria/microhematuria and hyperuricemia. An important gene associated with Cystinuria is SLC3A1 (solute carrier family 3 (amino acid transporter heavy chain), member 1), and among its related pathways are glutamate degradation X and proline biosynthesis II (from arginine). The drugs penicillamine and iodoquinol and the compounds delta(1)pyrroline-5-carboxylate and orotic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and colon, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

Disease Ontology:8 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

Genetics Home Reference:21 Cystinuria is a condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. Cystine is an amino acid, one of the building blocks of proteins. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream and the amino acid accumulates in their urine.

Wikipedia:63 Cystinuria is an inherited autosomal recessivedisease that is characterized by the formation of cystine... more...

Description from OMIM:46 220100

Aliases & Classifications for Cystinuria

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
cystinuria:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

cystinuria 8 9 42 20 22 21 46 10 44 48 60
csnu 42 21
cystinuria - lysinuria 48
cystinuria-lysinuria 42
cystinuria type b 48
cystinuria type a 48


External Ids:

Disease Ontology8 DOID:9266
OMIM46 220100
NCIt39 C84664
MeSH34 D003555
UMLS via Orphanet61 C0010691, C0268646
MESH via Orphanet35 D003555
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet57 25646005, 85020001

Related Diseases for Cystinuria

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17GeneCards, 18GeneDecks
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Diseases related to Cystinuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1nephrolithiasis30.4SLC3A1, SLC7A9
2hartnup disease30.0SLC1A5, SLC6A19
3hyperlysinemia29.8OTC, SCCPDH
4phenylketonuria29.8SLC7A5, OTC
5lysinuric protein intolerance29.8SLC7A5, SLC3A1, SLC3A2, SLC7A7, OTC
6hypotonia-cystinuria syndrome10.2
7hyperuricemia10.2
8fanconi syndrome10.2
9cystinosis10.2
10nephrotic syndrome10.2
11gyrate atrophy10.1
12atypical hypotonia - cystinuria syndrome10.1
132p21 microdeletion syndrome without cystinuria10.1
14choroiditis10.0
15homocystinuria10.0
16arthritis10.0
17rheumatoid arthritis10.0
18orotic aciduria10.0OTC
19reye syndrome10.0OTC
20maple syrup urine disease10.0OTC
21aminoaciduria10.0SLC3A1, SLC7A9, SLC6A19
22pellagra10.0SLC1A5, SLC6A19
23choriocarcinoma10.0SLC7A5
24hyperammonemia multi-gene panels10.0SLC7A7, OTC, OAT
25metabolic syndrome x10.0OAT, OTC, SLC3A1
26eye disease10.0OAT, OTC
27familial nephrotic syndrome9.9
28bardet-biedl syndrome9.9
29xanthogranulomatous pyelonephritis9.9
30primary hyperparathyroidism9.9
31alkaptonuria9.9
32renal pelvis squamous cell carcinoma9.9
33muscular atrophy9.9
34duodenitis9.9
35erythropoietic protoporphyria9.9
36ureterolithiasis9.9
37renal tubular acidosis9.9
38acute leukemia9.9
39propionic acidemia9.9
40chromosomal disease9.9
41dermatomyositis9.9
42hyperparathyroidism9.9
43leukemia9.9
44lymphoblastic leukemia9.9
45myotonic dystrophy9.9
46paraplegia9.9
47proteinuria9.9
48pyelonephritis9.9
49renal cell carcinoma9.9
50renal pelvis carcinoma9.9

Graphical network of the top 20 diseases related to Cystinuria:



Diseases related to cystinuria

Clinical Features for Cystinuria

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46OMIM, 48Orphanet
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Clinical features from OMIM:

220100

Clinical synopsis from OMIM:

220100

Symptoms:

48
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hematuria/microhematuria
  • hyperuricemia
  • renal failure
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance

Drugs & Therapeutics for Cystinuria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cystinuria

Drug clinical trials:

Search ClinicalTrials for Cystinuria

Search NIH Clinical Center for Cystinuria

Search CenterWatch for Cystinuria

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Cystinuria

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20GeneTests, 22GTR
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Genetic tests related to Cystinuria:

id Genetic test Affiliating Genes
1 Cystinuria20 22 SLC7A9

Anatomical Context for Cystinuria

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Cystinuria:

32
Kidney, Testes, Colon, Retina, Small intestine, Breast, Spinal cord, Bone, Skin

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Animal Models for Cystinuria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cystinuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3SLC7A9, SLC3A1, SLC7A7, OTC, OAT, SLC6A19
2MP:00053767.9OAT, PYCARD, SLC6A19, SLC7A9, SLC7A10, SLC3A1

Publications for Cystinuria

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Sources:
50PubMed
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Articles related to Cystinuria:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
In reply to 'Monosodium urate stones are rare, and urine pH is not low in cystinuria'. (23773842)
2013
2
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. (23794250)
2013
3
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. (22698901)
2011
4
Cystinuria: the South Indian experience. (19779707)
2009
5
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. (18951580)
2008
6
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (18234729)
2008
7
Cystinuria: a rare diagnosis that should not be missed. (18840913)
2008
8
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. (18332091)
2008
9
Management of cystinuria. (17678985)
2007
10
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. (16845473)
2006
11
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818822)
2005
12
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping. (15670723)
2005
13
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. (15818836)
2005
14
Gene symbol: SLC3A1. Disease: cystinuria. (15818810)
2005
15
Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis using capillary electrophoresis. (14730569)
2004
16
Cystinuria: definition, epidemiology and clinical aspects. (15568305)
2004
17
A mouse model for cystinuria type I. (12923163)
2003
18
Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria. (11762791)
2001
19
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. (11524703)
2001
20
Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. (11156709)
2000
21
Treatment of cystinuria. (10603157)
1999
22
Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain. (10074888)
1999
23
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model. (7477014)
1995
24
Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria. (7958031)
1994
25
Is the broad range amino acid transporter which is induced by a renal microvillar cDNA clone the cystinuria gene? (7898785)
1994
26
Late onset of cystinuria in a case of gyrate atrophy. (8295414)
1993
27
Cystine fluxes across the isolated jejunal epithelium in cystinuria: increased efflux permeability at the luminal membrane. (3588086)
1987
28
Ontogeny modifies manifestations of cystinuria genes: implications for counseling. (3919167)
1985
29
The effect of dietary protein on cystine excretion in patients with cystinuria. (6441658)
1984
30
Heterozygous cystinuria and calcium oxalate urolithiasis. (6876277)
1983
31
Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria. (6422151)
1983
32
Pregnancy and cystinuria. (6139526)
1983
33
Cystinuria in children. (7202450)
1981
34
Stable reagents and a suitable routine procedure for the cystinuria test. (7430960)
1980
35
No effect of L-glutamine on cystinuria. (7350472)
1980
36
Treatment of cystinuria with alpha-mercaptopropionylglycine. (7209424)
1980
37
Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism. (641953)
1978
38
Cystinuria in a maned wolf. (738937)
1978
39
Canadian experience with penicillamine therapy for cystinuria. (122668)
1977
40
Poor diagnosis of cystinuria in New South Wales. (909498)
1977
41
Cystinuria: a new genetic variant. (939063)
1976
42
Subacute combined degeneration of the spinal cord with cystinuria. (1237110)
1975
43
Uricemia in cystinuria. (5011075)
1972
44
Dipeptide absorption in cystinuria. (5548535)
1971
45
Paraplegia associated with cystinuria. (5541353)
1971
46
Cystinuria: increased prevalence in patients with mental disease. (5456234)
1970
47
Cystinuria with hyperuricemia. (6071445)
1967
48
Penicillamine in canine cystinuria. (6069499)
1967
49
CYSTINURIA: DEFECTIVE INTESTINAL TRANSPORT OF DIBASIC AMINO ACIDS AND CYSTINE. (14271303)
1965
50
RECENT ADVANCES IN THE THERAPY OF CYSTINURIA. (14320576)
1965

Genetic Variations for Cystinuria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cystinuria:

62 (show all 51)
id Symbol AA change Variation ID SNP ID
1SLC3A1p.Pro128GlnVAR_011420
2SLC3A1p.Arg181GlnVAR_011421
3SLC3A1p.Glu268LysVAR_011422
4SLC3A1p.Thr341AlaVAR_011423
5SLC3A1p.Arg365TrpVAR_011424
6SLC3A1p.Arg452TrpVAR_011425
7SLC3A1p.Tyr461HisVAR_011426rs144162964
8SLC3A1p.Met467ThrVAR_011427
9SLC3A1p.Met467LysVAR_011428
10SLC3A1p.Tyr582HisVAR_011429
11SLC3A1p.Pro615ThrVAR_011430
12SLC3A1p.Phe648SerVAR_011432
13SLC3A1p.Thr652ArgVAR_011433
14SLC3A1p.Leu678ProVAR_011434
15SLC3A1p.Thr216MetVAR_022600
16SLC3A1p.Arg362CysVAR_022601
17SLC3A1p.Pro508AlaVAR_022602
18SLC3A1p.Tyr151CysVAR_038200
19SLC3A1p.Asn253LysVAR_038201
20SLC3A1p.Arg362HisVAR_038202
21SLC3A1p.Gly398ArgVAR_038203
22SLC3A1p.Gly481ValVAR_038204
23SLC3A1p.Glu482LysVAR_038205
24SLC3A1p.Gln510ArgVAR_038206
25SLC3A1p.Arg584ThrVAR_038207
26SLC3A1p.Phe599SerVAR_038208
27SLC3A1p.Gly600GluVAR_038209
28SLC3A1p.Pro122SerVAR_064040
29SLC7A9p.Gly105ArgVAR_010256rs121908480
30SLC7A9p.Val170MetVAR_010257
31SLC7A9p.Ala182ThrVAR_010258rs79389353
32SLC7A9p.Gly195ArgVAR_010259
33SLC7A9p.Gly259ArgVAR_010260
34SLC7A9p.Ile44ThrVAR_014363
35SLC7A9p.Pro261LeuVAR_014364
36SLC7A9p.Ala354ThrVAR_014365
37SLC7A9p.Val330MetVAR_015885
38SLC7A9p.Pro52LeuVAR_018998
39SLC7A9p.Gly63ArgVAR_018999
40SLC7A9p.Trp69LeuVAR_019000
41SLC7A9p.Ala70ValVAR_019001
42SLC7A9p.Thr123MetVAR_019002rs79987078
43SLC7A9p.Ala126ThrVAR_019003
44SLC7A9p.Ile187PheVAR_019005
45SLC7A9p.Trp230ArgVAR_019008
46SLC7A9p.Ile241ThrVAR_019009
47SLC7A9p.Arg333TrpVAR_019011
48SLC7A9p.Ser379ArgVAR_019012
49SLC7A9p.Ala382ThrVAR_019013
50SLC7A9p.Ala224ValVAR_022603
51SLC7A9p.Ala331ValVAR_022604

Expression for genes affiliated with Cystinuria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystinuria

Search GEO for disease gene expression data for Cystinuria.

Pathways for genes affiliated with Cystinuria

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37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 29KEGG
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Compounds for genes affiliated with Cystinuria

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Cystinuria according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1delta(1)pyrroline-5-carboxylate4410.3OAT, OTC
2orotic acid44 11 2412.3OAT, OTC
3l-ornithine28 1111.3OAT, OTC
4carbamoyl phosphate4410.2OAT, OTC
52-aminobicyclo(2,2,1)heptane-2-carboxylic acid4410.1SLC7A8, SLC7A5
6S-(Methylmercury)-L-Cysteine1110.1SLC7A8, SLC7A5
7diethylmaleate4410.0SLC3A2, SLC7A11
8l-arginine28 11 2412.0SLC7A7, SLC3A2
9L-Leucine11 2411.0SLC7A8, SLC3A2
10ecori4410.0OAT, OTC
11L-Cysteine11 2410.9SLC7A8, SLC3A2
12ornithine44 2410.8SLC7A5, SLC3A1, SLC7A7, OTC, OAT
13L-Cystine11 2410.7SLC1A4, SLC7A9, SLC3A1, SLC7A11
14l-alanine28 59 11 2412.7SLC7A8, SLC1A4
15arginine449.5SLC7A5, SLC3A1, SLC3A2, SLC7A7, OTC, OAT
16glutamine449.5SLC7A5, SLC1A4, SLC1A5, OTC, OAT
17l-glutamine28 11 2411.4SLC1A5, SLC7A8
18cystine449.4SLC7A11, SLC3A2, SLC3A1, SLC7A8, SLC7A9
19phenylalanine449.3SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2
20leucine449.1SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2, OTC
21alanine449.0SLC7A5, SLC1A4, SLC7A8, SLC3A1, SLC3A2, SLC1A5
22threonine448.8PPM1B, SLC1A4, SLC7A8, SLC3A2, OTC
23serine448.8PPM1B, SLC7A5, SLC1A4, SLC7A10, SLC3A1, SLC3A2
24glutamate448.7SLC1A4, SLC6A19, SLC3A1, SLC3A2, SLC1A5, SLC7A11
25sodium44 248.7OTC, SLC7A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10

GO Terms for genes affiliated with Cystinuria

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16Gene Ontology
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Cellular components related to Cystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:0424709.5SLC1A5, SLC3A2, SLC1A4
2integral to plasma membraneGO:0058878.3SLC1A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10, SLC7A8
3plasma membraneGO:0058866.9SLC7A5, SLC1A4, SLC6A19, SLC7A9, SLC7A10, SLC44A3

Biological processes related to Cystinuria according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-serine transportGO:0158259.9SLC1A4, SLC7A10
2negative regulation of interferon-beta productionGO:0326889.9PYCARD, PPM1B
3L-cystine transportGO:0158119.9SLC3A1, SLC7A9, SLC1A4
4negative regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431249.8PPM1B, PYCARD
5glutamine transportGO:0068689.7SLC1A4, SLC1A5
6cellular amino acid metabolic processGO:0065209.4SLC7A5, SLC7A9, SLC7A8, SLC3A1, SLC7A7
7neutral amino acid transportGO:0158049.4SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC1A5
8transportGO:0068109.1SLC7A7, SLC7A8, SLC7A9, SLC7A5
9leukocyte migrationGO:0509008.8SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC3A2, SLC7A7
10blood coagulationGO:0075968.7SLC7A5, SLC7A9, SLC7A10, SLC7A8, SLC3A2, SLC7A7
11ion transportGO:0068117.8SLC7A9, SLC6A19, SLC1A4, SLC7A5, SLC7A10, SLC7A8
12amino acid transportGO:0068657.7SLC7A11, SLC1A5, SLC7A7, SLC3A2, SLC3A1, SLC7A8
13transmembrane transportGO:0550857.5SLC7A11, SLC1A5, SLC7A7, SLC3A2, SLC3A1, SLC7A8

Molecular functions related to Cystinuria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation bindingGO:04316910.1SLC3A2, SLC3A1
2L-serine transmembrane transporter activityGO:0151949.9SLC1A4, SLC7A10
3L-cystine transmembrane transporter activityGO:0151849.9SLC1A4, SLC7A9, SLC3A1
4sodium:dicarboxylate symporter activityGO:0171539.8SLC1A5, SLC1A4
5peptide antigen bindingGO:0426059.7SLC7A8, SLC7A9, SLC7A5
6L-amino acid transmembrane transporter activityGO:0151799.7SLC7A8, SLC7A5
7L-glutamine transmembrane transporter activityGO:0151869.5SLC1A5, SLC1A4
8amino acid transmembrane transporter activityGO:0151719.4SLC7A7, SLC3A1, SLC7A8, SLC7A9, SLC7A5
9neutral amino acid transmembrane transporter activityGO:0151758.9SLC1A5, SLC7A5, SLC6A19, SLC7A9, SLC7A10, SLC7A8

Products for genes affiliated with Cystinuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cystinuria

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet