MCID: CYS010
MIFTS: 55

Cystinosis

Categories: Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Cystinosis

MalaCards integrated aliases for Cystinosis:

Name: Cystinosis 12 72 23 49 24 55 36 28 51 41 14
Cystine Storage Disease 12 49 24
Protein Defect of Cystin Transport 55
Nephropathic Cystinosis 69
Cystine Diathesis 49
Cystine Disease 49
Cystinoses 49

Characteristics:

Orphanet epidemiological data:

55
cystinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (Germany),1-9/100000 (United Kingdom),1-9/1000000 (Australia),1-9/100000 (Europe),1-9/1000000 (Denmark),1-9/1000000 (Sweden),1-9/100000; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: any age;

Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Cystinosis

NIH Rare Diseases : 49 Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern. Last updated: 11/11/2011

MalaCards based summary : Cystinosis, also known as cystine storage disease, is related to fanconi syndrome and cystinosis, adult nonnephropathic, and has symptoms including renal insufficiency, proteinuria and nephropathy. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Lysosome and Miscellaneous transport and binding events. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and thyroid, and related phenotype is renal/urinary system.

Disease Ontology : 12 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17.

Genetics Home Reference : 24 Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.

Wikipedia : 72 Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid... more...

GeneReviews: NBK1400

Related Diseases for Cystinosis

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 31.9 CUBN LRP2
2 cystinosis, adult nonnephropathic 12.6
3 cystinosis, nephropathic 12.6
4 cystinosis, late-onset juvenile or adolescent nephropathic type 12.5
5 fanconi renotubular syndrome 1 10.9
6 bartter disease 10.1
7 aging 10.1
8 myopathy 10.1
9 thyroiditis 10.0
10 hypothyroidism 10.0
11 cystinuria 9.9
12 portal hypertension 9.9
13 encephalopathy 9.9
14 diabetes insipidus, nephrogenic, autosomal 9.9
15 diabetes mellitus 9.9
16 renal tubular acidosis 9.9
17 rickets 9.9
18 diabetes insipidus 9.9
19 intracranial hypertension 9.9
20 fanconi-like syndrome 9.9 CUBN LRP2
21 fibrosis of extraocular muscles, congenital, 1 9.8
22 hypercalciuria, absorptive, 2 9.8
23 cohen-gibson syndrome 9.8
24 keratopathy 9.8
25 lysosomal storage disease 9.8
26 inflammatory bowel disease 9.8
27 papilledema 9.8
28 cerebritis 9.8
29 pancreatitis 9.8
30 kidney disease 9.8
31 dent disease 1 9.7 CUBN LRP2
32 urinary system disease 9.7 LRP2 TRPV1
33 renal cell carcinoma, nonpapillary 9.6
34 arterial calcification, generalized, of infancy, 1 9.6
35 cystic fibrosis 9.6
36 fructose intolerance, hereditary 9.6
37 familial mediterranean fever 9.6
38 myeloma, multiple 9.6
39 myxedema 9.6
40 fabry disease 9.6
41 ifap syndrome with or without bresheck syndrome 9.6
42 pituitary adenoma, prolactin-secreting 9.6
43 brittle bone disorder 9.6
44 salla disease 9.6
45 osteogenesis imperfecta, type vi 9.6
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
47 sedoheptulokinase deficiency 9.6
48 cataract 9.6
49 end stage renal failure 9.6
50 glomerulonephritis 9.6

Graphical network of the top 20 diseases related to Cystinosis:



Diseases related to Cystinosis

Symptoms & Phenotypes for Cystinosis

Human phenotypes related to Cystinosis:

55 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
2 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
3 nephropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000112
4 renal tubular dysfunction 55 31 hallmark (90%) Very frequent (99-80%) HP:0000124
5 retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000488
6 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
7 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
8 stereotypy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000733
9 hypothyroidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000821
10 delayed puberty 55 31 hallmark (90%) Very frequent (99-80%) HP:0000823
11 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
12 gait disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0001288
13 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
14 portal hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0001409
15 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
16 dehydration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001944
17 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
18 polydipsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001959
19 vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002013
20 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
21 hypophosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002148
22 dysphasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002357
23 rickets 55 31 frequent (33%) Frequent (79-30%) HP:0002748
24 hypokalemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002900
25 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
26 aminoaciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003355
27 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
28 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
29 abnormal pyramidal signs 55 31 occasional (7.5%) Occasional (29-5%) HP:0007256
30 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
31 nephrogenic diabetes insipidus 55 31 hallmark (90%) Very frequent (99-80%) HP:0009806
32 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
33 type i diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0100651

UMLS symptoms related to Cystinosis:


polyuria, polydipsia, photophobia

MGI Mouse Phenotypes related to Cystinosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 CUBN LCAT LRP2 TRPV1 CTNS

Drugs & Therapeutics for Cystinosis

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11 cysteine Nutraceutical Phase 4
12
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
13
Methamphetamine Approved, Illicit Phase 2,Phase 1 537-46-2 10836
14 Adrenergic Agents Phase 2,Phase 1
15 Autonomic Agents Phase 2,Phase 1
16 Central Nervous System Stimulants Phase 2,Phase 1
17 Dopamine Agents Phase 2,Phase 1
18 Dopamine Uptake Inhibitors Phase 2,Phase 1
19 Neurotransmitter Agents Phase 2,Phase 1
20 Neurotransmitter Uptake Inhibitors Phase 2,Phase 1
21 Ophthalmic Solutions Phase 2,Phase 1
22 Peripheral Nervous System Agents Phase 2,Phase 1,Early Phase 1
23 Pharmaceutical Solutions Phase 2
24 Tetrahydrozoline Phase 2,Phase 1
25
Capsaicin Approved Early Phase 1 404-86-4 1548943
26 Antipruritics Early Phase 1
27 Dermatologic Agents Early Phase 1

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
2 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
3 Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis Completed NCT01733316 Phase 3 RP103;Cystagon®
4 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
5 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
6 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
7 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
8 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
9 First Study of Oral Cysteamine in Cystic Fibrosis Completed NCT02212431 Phase 1, Phase 2 Cysteamine
10 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone
11 New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis Completed NCT00001736 Phase 1 Cysteamine
12 A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications Unknown status NCT02012114
13 The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients Completed NCT02533076 Early Phase 1
14 Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis Completed NCT00822250
15 Kidney Transplantation in Patients With Cystinosis Completed NCT00074516
16 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
17 Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis Completed NCT00004312
18 Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis Completed NCT00010426 cysteamine hydrochloride
19 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
20 Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™ Completed NCT01432561 Cysteamine bitartrate
21 Efficacy of Topical Cysteamine in Nephropathic Cyctinosis Completed NCT02766855 Cysteamine
22 Salivary Proteins in Disease and Health Completed NCT00100204
23 Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease Recruiting NCT02837523
24 Cure Cystinosis International Registry Recruiting NCT01327807

Search NIH Clinical Center for Cystinosis

Cochrane evidence based reviews: cystinosis

Genetic Tests for Cystinosis

Genetic tests related to Cystinosis:

# Genetic test Affiliating Genes
1 Cystinosis 28

Anatomical Context for Cystinosis

MalaCards organs/tissues related to Cystinosis:

38
Eye, Kidney, Thyroid, Testes, Pancreas, Bone, Bone Marrow

Publications for Cystinosis

Articles related to Cystinosis:

(show top 50) (show all 605)
# Title Authors Year
1
Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review. ( 29416314 )
2018
2
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
3
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. ( 29365190 )
2018
4
Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment. ( 29435659 )
2018
5
A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis. ( 29411268 )
2018
6
Slow progression of renal failure in a child with infantile cystinosis. ( 29446030 )
2018
7
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
8
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis. ( 28692321 )
2017
9
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis. ( 28477325 )
2017
10
Effects of long-term cysteamine treatment in patients with cystinosis. ( 29260317 )
2017
11
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
12
CTNS molecular genetics profile in a Persian nephropathic cystinosis population. ( 28238446 )
2017
13
Corneal cystine crystals in cystinosis. ( 28325728 )
2017
14
Bone Complications of Cystinosis. ( 28343472 )
2017
15
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. ( 28673276 )
2017
16
Mutation analysis of the<i>CTNS</i>gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. ( 28983406 )
2017
17
A short cut diagnostic tool in cystinosis: Bone marrow aspiration. ( 28871612 )
2017
18
Efficacy of topical cysteamine in nephropathic cystinosis. ( 28057644 )
2017
19
Pulmonary Complications of Cystinosis. ( 28343476 )
2017
20
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report. ( 28950840 )
2017
21
Endocrine Complications of Cystinosis. ( 28343475 )
2017
22
Nephropathic cystinosis: an update. ( 28107209 )
2017
23
First Successful Conception Induced by a Male Cystinosis Patient. ( 28405942 )
2017
24
Aortic dissection and cystinosis: is there any relationship? ( 28490397 )
2017
25
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. ( 28793998 )
2017
26
AJKD Atlas of Renal Pathology: Cystinosis. ( 29169518 )
2017
27
Structured Transition Protocol for Children with Cystinosis. ( 28913329 )
2017
28
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. ( 27990015 )
2017
29
Ocular Complications of Infantile Nephropathic Cystinosis. ( 28343471 )
2017
30
Neurocognitive Complications of Cystinosis. ( 28343470 )
2017
31
Infantile cystinosis: From dialysis to renal transplantation. ( 28937083 )
2017
32
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
33
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam. ( 29109899 )
2017
34
A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study. ( 28426870 )
2017
35
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. ( 28638260 )
2017
36
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. ( 28198397 )
2017
37
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. ( 28278342 )
2017
38
A coordinated transition model for patients with cystinosis: from pediatrics to adult care. ( 27595514 )
2016
39
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57a88kb deletion. ( 27734949 )
2016
40
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. ( 28276207 )
2016
41
Preformulation of cysteamine gels for treatment of the ophthalmic complications in cystinosis. ( 27771488 )
2016
42
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. ( 26980209 )
2016
43
Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis. ( 28033491 )
2016
44
Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study. ( 27350621 )
2016
45
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. ( 27885487 )
2016
46
Cystinosis: a review. ( 27102039 )
2016
47
Endocrine complications during and after adolescence in a patient with cystinosis. ( 27777912 )
2016
48
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27181776 )
2016
49
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. ( 26812160 )
2016
50
Cystinosis in Eastern Turkey. ( 27269891 )
2016

Variations for Cystinosis

ClinVar genetic disease variations for Cystinosis:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNS NM_004937.2(CTNS): c.18_21delGACT (p.Thr7Phefs) deletion Pathogenic rs786204501 GRCh38 Chromosome 17, 3640224: 3640227
2 CTNS NM_004937.2(CTNS): c.614_616delACG (p.Asp205del) deletion Pathogenic/Likely pathogenic rs760256854 GRCh37 Chromosome 17, 3560022: 3560024
3 CTNS NM_004937.2(CTNS): c.416C> T (p.Ser139Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267606754 GRCh37 Chromosome 17, 3558601: 3558601
4 CTNS NM_004937.2: c.661insT insertion Pathogenic
5 CTNS NM_004937.2(CTNS): c.323delA (p.Gln108Argfs) deletion Pathogenic rs879255615 GRCh37 Chromosome 17, 3558389: 3558389
6 CTNS NM_004937.2(CTNS): c.257_258delCT (p.Ser86Phefs) deletion Pathogenic rs879255614 GRCh38 Chromosome 17, 3655029: 3655030
7 CTNS NM_004937.2(CTNS): c.91_92insG (p.Val31Glyfs) duplication Pathogenic rs879255613 GRCh38 Chromosome 17, 3647473: 3647473
8 CTNS NM_004937.2(CTNS): c.120delC (p.Asn41Thrfs) deletion Pathogenic rs879255616 GRCh37 Chromosome 17, 3550796: 3550796
9 CTNS NM_004937.2(CTNS): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs550254092 GRCh37 Chromosome 17, 3558567: 3558567
10 CTNS NM_004937.2(CTNS): c.397A> T (p.Ile133Pro) single nucleotide variant Pathogenic rs886040970 GRCh37 Chromosome 17, 3558582: 3558582
11 CTNS NM_004937.2(CTNS): c.544T> C (p.Trp182Arg) single nucleotide variant Pathogenic rs764168489 GRCh37 Chromosome 17, 3559863: 3559863
12 CTNS NM_004937.2(CTNS): c.922G> A (p.Gly308Arg) single nucleotide variant Pathogenic rs746307931 GRCh37 Chromosome 17, 3563221: 3563221

Expression for Cystinosis

Search GEO for disease gene expression data for Cystinosis.

Pathways for Cystinosis

Pathways related to Cystinosis according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Cystinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 CTNS PQLC2

GO Terms for Cystinosis

Cellular components related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.54 CTNS CUBN LRP2
2 clathrin-coated pit GO:0005905 9.32 CUBN LRP2
3 brush border GO:0005903 9.26 CUBN LRP2
4 endocytic vesicle GO:0030139 9.16 CUBN LRP2
5 brush border membrane GO:0031526 8.96 CUBN LRP2
6 lysosomal membrane GO:0005765 8.92 CTNS CUBN LRP2 PQLC2

Biological processes related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.73 CTNS CUBN LRP2 P2RX5 PQLC2 TRPV1
2 lipid metabolic process GO:0006629 9.46 CUBN LCAT LRP2 TRPV1
3 excitatory postsynaptic potential GO:0060079 9.37 P2RX5 TRPV1
4 cellular amino acid metabolic process GO:0006520 9.32 CTNS GSS
5 lipoprotein transport GO:0042953 8.96 CUBN LRP2
6 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Molecular functions related to Cystinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 8.62 CUBN LRP2

Sources for Cystinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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