TSC1
MCID: TBR001
MIFTS: 67

Tuberous Sclerosis (TSC1) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Tuberous Sclerosis

Aliases & Descriptions for Tuberous Sclerosis:

Name: Tuberous Sclerosis 12 50 51 52 41 42 14 69
Tuberous Sclerosis 1 50 24 69
Tuberous Sclerosis Syndrome 12 29
Tuberous Sclerosis Complex 50
Bourneville's Disease 12
Cerebral Sclerosis 12
Tuberose Sclerosis 12
Epiloia 12
Tsc1 24

Classifications:



External Ids:

Disease Ontology 12 DOID:13515
ICD10 33 Q85.1
ICD9CM 35 759.5
MeSH 42 D014402
NCIt 47 C3424
UMLS 69 C0041341

Summaries for Tuberous Sclerosis

NIH Rare Diseases : 50 tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. tumors on the face called facial angiofibromas are also common beginning in childhood. tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the tsc1 or tsc2 gene. treatment depends on the symptoms in each individual case and may include medications or surgery. last updated: 5/19/2016

MalaCards based summary : Tuberous Sclerosis, also known as tuberous sclerosis 1, is related to pilocytic astrocytoma and pleomorphic xanthoastrocytoma, and has symptoms including back pain, headache and pain. An important gene associated with Tuberous Sclerosis is TSC1 (Tuberous Sclerosis 1), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are Decreased viability and cardiovascular system

MedlinePlus : 41 tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. symptoms vary, depending on where the tumors grow. they could include skin problems, such as light patches and thickened skin seizures behavior problems intellectual disabilities kidney problems some people have signs of tuberous sclerosis at birth. in others it can take time for the symptoms to develop. the disease can be mild, or it can cause severe disabilities. in rare cases, tumors in vital organs or other symptoms can be life-threatening. tuberous sclerosis has no cure, but treatments can help symptoms. options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. nih: national institute of neurological disorders and stroke

NINDS : 51 Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.

Wikipedia : 71 Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes benign tumors to grow... more...

Related Diseases for Tuberous Sclerosis

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis-1

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

(show top 50) (show all 271)
id Related Disease Score Top Affiliating Genes
1 pilocytic astrocytoma 31.4 GFAP MTOR SYP TSC1 TSC2
2 pleomorphic xanthoastrocytoma 29.4 GFAP MTOR SYP TSC1 TSC2
3 tuberous sclerosis-1 12.2
4 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.2
5 sudanophilic cerebral sclerosis 12.0
6 tsc2 angiomyolipomas, renal, modifier of 11.9
7 cerebral sclerosis similar to pelizaeus-merzbacher disease 11.8
8 lymphangioleiomyomatosis 11.5
9 subependymal giant cell astrocytoma 11.4
10 hemimegalencephaly 11.3
11 renal oncocytoma 11.2
12 adrenoleukodystrophy 11.2
13 metachromatic leukodystrophy 11.1
14 mitochondrial dna depletion syndrome 4a 11.0
15 tumefactive multiple sclerosis 11.0
16 brain and spinal tumors 10.9
17 glioma susceptibility 1 10.9
18 spinal cancer 10.9
19 soft tissue sarcoma 10.9
20 moyamoya disease 10.9
21 insulinoma 10.9
22 angiomyolipoma 10.6
23 astrocytoma 10.6
24 epilepsy 10.5
25 hemolytic anemia due to adenylate kinase deficiency 10.3 MTOR TSC1
26 spermatogenic failure 10 10.3 PKD1 TSC2
27 chromosome 18p tetrasomy 10.3 PKD1 TSC2
28 polycythemia 10.3 MTOR TSC1 TSC2
29 melorheostosis with osteopoikilosis 10.3 TSC1 TSC2
30 gallbladder cancer 10.3 MTOR TSC1 TSC2
31 bruck syndrome 10.2 NF1 PKD1
32 chronic polyneuropathy 10.2 CCL26 TSC1 TSC2
33 bronchus mucoepidermoid carcinoma 10.2 EIF4EBP1 MTOR
34 diabetes hypogonadism deafness mental retardation 10.2 GFAP SYP
35 papillary tumor of the pineal region 10.2 GFAP SYP
36 cervical adenoid cystic carcinoma 10.2 GFAP NF1
37 renal cell carcinoma 10.2
38 brain stem ependymoma 10.2 GFAP SYP
39 gangliosidosis gm1 10.2 CCL26 MTOR TSC1 TSC2
40 superior vena cava syndrome 10.2 GFAP SYP TSC2
41 spinocerebellar ataxia, autosomal recessive 2 10.2 MTOR RPS6KB1 TSC1 TSC2
42 gastrointestinal lymphoma 10.2 MTOR PKD1 TSC1 TSC2
43 intrahepatic bile duct adenoma 10.2 GFAP SYP
44 kidney disease 10.2
45 cerebritis 10.2
46 psoriasis susceptibility 13 10.1 MTOR PKD1 TSC1
47 aids - neurological complications 10.1 DCX TSC1 TSC2
48 polycystic kidney disease 10.1
49 aneurysm 10.1
50 inner ear cancer 10.1 GFAP SYP TSC1 TSC2

Graphical network of the top 20 diseases related to Tuberous Sclerosis:



Diseases related to Tuberous Sclerosis

Symptoms & Phenotypes for Tuberous Sclerosis

UMLS symptoms related to Tuberous Sclerosis:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.21 MTOR
2 Decreased viability GR00221-A-1 10.21 MTOR NF1 RHEB RPS6KA1 RPS6KB1
3 Decreased viability GR00221-A-2 10.21 NF1 RPS6KA1
4 Decreased viability GR00221-A-3 10.21 RPS6KA1
5 Decreased viability GR00221-A-4 10.21 MTOR NF1 RPS6KA1
6 Decreased viability GR00301-A 10.21 RPS6KB1 RPS6KA1
7 Decreased viability GR00342-S-1 10.21 MTOR RPS6KA1
8 Decreased viability GR00342-S-2 10.21 MTOR
9 Decreased viability GR00381-A-1 10.21 RPS6KB1
10 Decreased cell migration GR00055-A-1 9.77 MTOR NF1 PKD1 RPS6KA1 TSC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 MTOR RHEB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 MTOR RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.75 TSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.75 DBH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.75 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.75 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.75 DBH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.75 MTOR PTEN RHEB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.75 PTEN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 PTEN DBH
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 DBH MTOR PTEN RHEB TSC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.75 RHEB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 PTEN RHEB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 MTOR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 TSC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 MTOR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.75 PTEN
28 Decreased viability with paclitaxel GR00179-A-1 9.55 MTOR RPS6KB1
29 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
30 Decreased viability with paclitaxel GR00179-A-3 9.55 RPS6KB1 MTOR
31 Decreased sensitivity to paclitaxel GR00112-A-0 9.32 NF1 PTEN
32 Increased cell migration GR00055-A-3 9.26 MTOR NF1 PKD1 RPS6KA1

MGI Mouse Phenotypes related to Tuberous Sclerosis:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 GFAP MTOR NF1 PKD1 PTEN RAP1A
2 cellular MP:0005384 10.2 NF1 PKD1 PTEN RAP1A RHEB RPS6KB1
3 behavior/neurological MP:0005386 10.19 DBH DCX GFAP MTOR NF1 PTEN
4 growth/size/body region MP:0005378 10.18 RPS6KB1 TSC1 TSC2 COL5A1 DBH DCX
5 mortality/aging MP:0010768 10.17 RAP1A RHEB RPS6KB1 TSC1 TSC2 COL5A1
6 embryo MP:0005380 10.09 COL5A1 MTOR NF1 PKD1 PTEN RHEB
7 endocrine/exocrine gland MP:0005379 10.01 RPS6KB1 TSC1 TSC2 PTEN DBH MTOR
8 muscle MP:0005369 9.91 EIF4EBP1 GFAP MTOR NF1 PKD1 PTEN
9 nervous system MP:0003631 9.73 DBH DCX GFAP MTOR NF1 PKD1
10 neoplasm MP:0002006 9.63 NF1 PKD1 PTEN RPS6KB1 TSC1 TSC2
11 normal MP:0002873 9.32 COL5A1 DBH GFAP MTOR NF1 PKD1

Drugs & Therapeutics for Tuberous Sclerosis

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

(show top 50) (show all 77)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Vigabatrin Approved Phase 4,Phase 2 68506-86-5, 60643-86-9 5665
6 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
8 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Neurotransmitter Agents Phase 4,Phase 2
12 Antimalarials Phase 4
13 Antiparasitic Agents Phase 4
14 Antiprotozoal Agents Phase 4
15 Anticonvulsants Phase 4,Phase 2
16 GABA Agents Phase 4,Phase 2
17
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
19
Ethanol Approved Phase 3 64-17-5 702
20
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
22 Antiemetics Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Autonomic Agents Phase 3
25 Gastrointestinal Agents Phase 3,Phase 2
26 glucocorticoids Phase 3
27 Hormone Antagonists Phase 3,Phase 2
28 Hormones Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
30 Methylprednisolone acetate Phase 3
31 Methylprednisolone Hemisuccinate Phase 3
32 Neuroprotective Agents Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Prednisolone acetate Phase 3
35 Prednisolone hemisuccinate Phase 3
36 Prednisolone phosphate Phase 3
37 Protective Agents Phase 3,Phase 1
38 Bone Density Conservation Agents Phase 3
39 Calcium, Dietary Phase 3
40 Micronutrients Phase 3
41 Trace Elements Phase 3
42 Vasoconstrictor Agents Phase 3
43 Vitamins Phase 3
44 Pharmaceutical Solutions Phase 3,Phase 2
45 Antioxidants Phase 3,Phase 1
46 Central Nervous System Depressants Phase 3,Phase 1
47 Strawberry Nutraceutical Phase 3
48
Propranolol Approved, Investigational Phase 2 525-66-6 4946
49
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
50
Metformin Approved Phase 2 657-24-9 14219 4091

Interventional clinical trials:

(show top 50) (show all 61)
id Name Status NCT ID Phase
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4
3 Long-term Follow-up for Growth and Development of Pediatric Patients From CRAD001M2301 Active, not recruiting NCT02338609 Phase 4
4 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3
6 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
7 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3
8 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3
9 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3
10 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3
11 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3
12 A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Active, not recruiting NCT01713946 Phase 3
13 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3
14 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3
15 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Not yet recruiting NCT02634931 Phase 3
16 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3
17 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Not yet recruiting NCT02962414 Phase 3
18 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Unknown status NCT02104011 Phase 2
19 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2
20 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2
21 Activity and Safety of Everolimus+Octreotide LAR+Metformin in Advanced Pancreatic Well-differentiated NETs Unknown status NCT02294006 Phase 2
22 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2
23 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2
24 Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Completed NCT01289912 Phase 2
25 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2
26 Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT01070316 Phase 1, Phase 2
27 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2
28 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2
29 Topical Rapamycin to Erase Angiofibromas in TSC Completed NCT01526356 Phase 2
30 Rapalogues for Autism Phenotype in TSC: A Feasibility Study Completed NCT01929642 Phase 2
31 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Recruiting NCT01954693 Phase 2
32 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Recruiting NCT02849457 Phase 2
33 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2
34 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2
35 Everolimus for Cancer With TSC1 or TSC2 Mutation Recruiting NCT02201212 Phase 2
36 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2
37 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2
38 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) Completed NCT01031901 Phase 1
39 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1
40 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1
41 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746
42 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
43 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
44 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
45 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
46 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex Recruiting NCT02654340
47 Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) Recruiting NCT02461459
48 Study of Skin Tumors in Tuberous Sclerosis Recruiting NCT00001975
49 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
50 Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Recruiting NCT02687633

Search NIH Clinical Center for Tuberous Sclerosis

Cochrane evidence based reviews: tuberous sclerosis

Genetic Tests for Tuberous Sclerosis

Genetic tests related to Tuberous Sclerosis:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Syndrome 29

Anatomical Context for Tuberous Sclerosis

MalaCards organs/tissues related to Tuberous Sclerosis:

39
Kidney, Skin, Brain, Heart, Lung, Eye, Liver

Publications for Tuberous Sclerosis

Articles related to Tuberous Sclerosis:

(show top 50) (show all 1388)
id Title Authors Year
1
Facial Angiofibromas and Periungual Fibromas in Tuberous Sclerosis. ( 28049994 )
2017
2
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. ( 28074282 )
2017
3
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. ( 27918305 )
2017
4
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. ( 28065512 )
2017
5
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. ( 28087349 )
2017
6
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
7
Genetics of tuberous sclerosis complex: implications for clinical practice. ( 28053551 )
2017
8
Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic. ( 28004629 )
2017
9
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. ( 28178598 )
2017
10
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. ( 28057044 )
2017
11
Chordoma Occurs in Young Children With Tuberous Sclerosis. ( 28498973 )
2017
12
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex. ( 27185581 )
2016
13
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex. ( 26873267 )
2016
14
Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model. ( 27655340 )
2016
15
[Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing]. ( 27060308 )
2016
16
Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review. ( 27928430 )
2016
17
Cost-utility analysis of competing treatment strategies for drug-resistant epilepsy in children with Tuberous Sclerosis Complex. ( 27591681 )
2016
18
Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study). ( 27860334 )
2016
19
Variability of Dose and Level of Sirolimus in a Patient With Tuberous Sclerosis Complex and Subependymal Giant Cell Astrocytoma. ( 27082208 )
2016
20
Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy. ( 27601910 )
2016
21
Musculoskeletal involvement in tuberous sclerosis. ( 27540262 )
2016
22
Nevus Anemicus and Bier Spots in Tuberous Sclerosis Complex. ( 26580703 )
2016
23
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. ( 27493206 )
2016
24
Severe pneumonia by Mycoplasma as an adverse event of everolimus therapy in patients with tuberous sclerosis complex. ( 27215926 )
2016
25
Cross-sectional Imaging Review of Tuberous Sclerosis. ( 27153781 )
2016
26
The effects of everolimus on tuberous sclerosis complex-associated renal angiomyolipoma: a preliminary report. ( 27565896 )
2016
27
Odontogenic myxofibroma of gingiva in a pediatric patient with tuberous sclerosis: A rare case report. ( 27994429 )
2016
28
Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature. ( 28003905 )
2016
29
Topical sirolimus for the treatment of angiofibromas in tuberous sclerosis. ( 27643542 )
2016
30
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. ( 27613521 )
2016
31
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology]. ( 26728384 )
2016
32
Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: Case report. ( 27690251 )
2016
33
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex. ( 27703871 )
2016
34
Mammalian Target of Rapamycin Inhibitor Induced Complete Remission of a Recurrent Subependymal Giant Cell Astrocytoma in a Patient Without Features of Tuberous Sclerosis Complex. ( 26929034 )
2016
35
Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. ( 27055516 )
2016
36
Case of bullous pemphigoid in a 28-year-old woman affected by tuberous sclerosis complex. ( 27400884 )
2016
37
Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas. ( 27140177 )
2016
38
Downregulation of CD47 and CD200 in patients with focal cortical dysplasia type IIb and tuberous sclerosis complex. ( 27095555 )
2016
39
Myocardial Fatty Foci in Tuberous Sclerosis Complex: Imaging Findings. ( 27555991 )
2016
40
Novel nonsense mutation of the TSC2 gene in a case of Tuberous Sclerosis Complex. ( 27194594 )
2016
41
Progressive Multifocal Micronodular Pneumocyte Hyperplasia in the Lungs of a Patient with Tuberous Sclerosis Complex: A Case Report. ( 27988923 )
2016
42
Do patients with tuberous sclerosis complex have an increased risk for malignancies? ( 27061015 )
2016
43
Expression and cellular distribution of transient receptor potential vanilloid 4 in cortical tubers of the tuberous sclerosis complex. ( 26874068 )
2016
44
Tuberous Sclerosis Complex: A Roadmap for Future Research. ( 27617567 )
2016
45
Diffusion tensor imaging in children with tuberous sclerosis complex: tract-based spatial statistics assessment of brain microstructural changes. ( 27085522 )
2016
46
Long-Term Clinical Morbidity in Patients with Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex. ( 27132503 )
2016
47
Seizures in tuberous sclerosis complex: hitting the target. ( 27613522 )
2016
48
Huaier aqueous extract inhibits proliferation and metastasis of tuberous sclerosis complex cell models through downregulation of JAK2/STAT3 and MAPK signaling pathways. ( 27461043 )
2016
49
A diagnostic and management algorithm for individuals with an isolated skin finding suggestive of tuberous sclerosis complex. ( 27167640 )
2016
50
Bilateral renal angiomyolipoma presenting as tuberous sclerosis syndrome. ( 26969365 )
2016

Variations for Tuberous Sclerosis

ClinVar genetic disease variations for Tuberous Sclerosis:

6 (show top 50) (show all 160)
id Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs) deletion Pathogenic rs118203595 GRCh37 Chromosome 9, 135781074: 135781077
2 TSC1 NM_000368.4(TSC1): c.749T> A (p.Leu250Ter) single nucleotide variant Pathogenic rs118203447 GRCh37 Chromosome 9, 135787833: 135787833
3 TSC1 NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs) deletion Pathogenic rs118203597 GRCh37 Chromosome 9, 135781060: 135781061
4 TSC1 NM_000368.4(TSC1): c.671T> G (p.Met224Arg) single nucleotide variant Pathogenic rs118203426 GRCh37 Chromosome 9, 135796816: 135796816
5 TSC1 NM_000368.4(TSC1): c.539T> C (p.Leu180Pro) single nucleotide variant Pathogenic rs118203396 GRCh37 Chromosome 9, 135797330: 135797330
6 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
7 TSC2 NM_000548.4(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
8 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
9 TSC2 NM_000548.4(TSC2): c.2056_2059dupTACT (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
10 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
11 TSC2 NM_000548.4(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
12 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
13 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
14 TSC2 NM_000548.4(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 GRCh37 Chromosome 16, 2110791: 2110791
15 TSC2 NM_000548.4(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic rs45516293 GRCh37 Chromosome 16, 2134966: 2134966
16 TSC2 NM_000548.4(TSC2): c.5238_5255del18 (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
17 TSC2 NM_000548.4(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
18 TSC2 NM_000548.4(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
19 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
20 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5delTAGG deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
21 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
22 TSC1 NM_000368.4(TSC1): c.1152delA (p.Gly385Glufs) deletion Pathogenic rs118203501 GRCh37 Chromosome 9, 135786069: 135786069
23 TSC1 NM_000368.4(TSC1): c.1257delC (p.Arg420Glyfs) deletion Pathogenic rs118203506 GRCh37 Chromosome 9, 135785964: 135785964
24 TSC1 NM_000368.4(TSC1): c.1431_1434delAGAA (p.Glu478Lysfs) deletion Pathogenic rs118203527 GRCh37 Chromosome 9, 135782122: 135782125
25 TSC1 NM_000368.4(TSC1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203537 GRCh37 Chromosome 9, 135781467: 135781467
26 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
27 TSC1 NM_000368.4(TSC1): c.1580_1581delAG (p.Gln527Argfs) deletion Pathogenic rs118203550 GRCh37 Chromosome 9, 135781384: 135781385
28 TSC1 NM_000368.4(TSC1): c.1959dupA (p.Gln654Thrfs) duplication Pathogenic rs118203603 GRCh37 Chromosome 9, 135781006: 135781006
29 TSC1 NM_000368.4(TSC1): c.1963C> T (p.Gln655Ter) single nucleotide variant Pathogenic rs118203606 GRCh37 Chromosome 9, 135781002: 135781002
30 TSC1 NM_000368.4(TSC1): c.1997+1G> A single nucleotide variant Pathogenic rs118203610 GRCh37 Chromosome 9, 135780967: 135780967
31 TSC1 NM_000368.4(TSC1): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic rs118203631 GRCh37 Chromosome 9, 135779172: 135779172
32 TSC1 NM_000368.4(TSC1): c.211-2A> C single nucleotide variant Pathogenic rs118203352 GRCh37 Chromosome 9, 135801128: 135801128
33 TSC1 NM_000368.4(TSC1): c.2111_2112delAT (p.Tyr704Terfs) deletion Pathogenic rs118203645 GRCh37 Chromosome 9, 135779134: 135779135
34 TSC1 NM_000368.4(TSC1): c.2227C> T (p.Gln743Ter) single nucleotide variant Pathogenic rs118203661 GRCh37 Chromosome 9, 135778156: 135778156
35 TSC1 NM_000368.4(TSC1): c.2283C> A (p.Tyr761Ter) single nucleotide variant Pathogenic rs118203668 GRCh37 Chromosome 9, 135778100: 135778100
36 TSC1 NM_000368.4(TSC1): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs118203680 GRCh37 Chromosome 9, 135778042: 135778042
37 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
38 TSC1 NM_000368.4(TSC1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs118203687 GRCh37 Chromosome 9, 135777077: 135777077
39 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
40 TSC1 NM_000368.4(TSC1): c.2569delG (p.Glu857Argfs) deletion Pathogenic rs118203712 GRCh37 Chromosome 9, 135776158: 135776158
41 TSC1 NM_000368.4(TSC1): c.2689C> T (p.Gln897Ter) single nucleotide variant Pathogenic rs118203727 GRCh37 Chromosome 9, 135772934: 135772934
42 TSC1 NM_000368.4(TSC1): c.271_272delTC (p.Ser91Valfs) deletion Pathogenic rs118203360 GRCh37 Chromosome 9, 135801065: 135801066
43 TSC1 NM_000368.4(TSC1): c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) indel Pathogenic rs118203380 GRCh37 Chromosome 9, 135798837: 135798848
44 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 GRCh37 Chromosome 9, 135798752: 135798752
45 TSC1 NM_000368.4(TSC1): c.664-1G> A single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
46 TSC1 NM_000368.4(TSC1): c.664-1G> C single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
47 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
48 TSC1 NM_000368.4(TSC1): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203434 GRCh37 Chromosome 9, 135796754: 135796754
49 TSC1 NM_000368.4(TSC1): c.737+1G> A single nucleotide variant Pathogenic rs118203438 GRCh37 Chromosome 9, 135796749: 135796749
50 TSC1 NM_000368.4(TSC1): c.812_813delAT (p.Tyr271Terfs) deletion Pathogenic rs118203451 GRCh37 Chromosome 9, 135787769: 135787770

Copy number variations for Tuberous Sclerosis from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97402 16 1 7900000 Copy number TSC2 Tuberous sclerosis
2 247563 9 130300000 141213431 Copy number TSC1 Tuberous sclerosis

Expression for Tuberous Sclerosis

Search GEO for disease gene expression data for Tuberous Sclerosis.

Pathways for Tuberous Sclerosis

Pathways related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 CCL26 COL5A1 GFAP MTOR NF1 PTEN
2
Show member pathways
13.4 CCL26 EIF4EBP1 MTOR PTEN RPS6KB1 TSC1
3
Show member pathways
13.08 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1 TSC1
4
Show member pathways
13.06 EIF4EBP1 MTOR NF1 PTEN RPS6KB1 TSC1
5
Show member pathways
12.95 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
6
Show member pathways
12.85 MTOR PTEN RAP1A RPS6KA1 RPS6KB1
7
Show member pathways
12.83 MTOR PTEN RAP1A RHEB RPS6KB1 TSC2
8
Show member pathways
12.8 EIF4EBP1 MTOR PTEN RAP1A RPS6KA1
9
Show member pathways
12.79 MTOR PTEN RAP1A RPS6KA1 RPS6KB1
10 12.64 EIF4EBP1 MTOR PTEN RHEB RPS6KB1 TSC1
11 12.59 DBH DCX GFAP NF1 SYP
12
Show member pathways
12.54 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
13
Show member pathways
12.53 EIF4EBP1 MTOR PTEN RPS6KA1 RPS6KB1
14
Show member pathways
12.48 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
15
Show member pathways
12.47 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1 TSC1
16
Show member pathways
12.46 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
17
Show member pathways
12.42 EIF4EBP1 MTOR PTEN RHEB RPS6KB1 TSC2
18
Show member pathways
12.37 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
19
Show member pathways
12.34 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
20
Show member pathways
12.33 MTOR PTEN RAP1A RPS6KB1
21 12.32 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
22
Show member pathways
12.28 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
23
Show member pathways
12.26 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
24 12.24 EIF4EBP1 MTOR PTEN RAP1A RPS6KA1 RPS6KB1
25
Show member pathways
12.24 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
26
Show member pathways
12.19 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
27
Show member pathways
12.18 EIF4EBP1 MTOR PTEN RPS6KB1 TSC2
28
Show member pathways
12.16 MTOR RHEB TSC1 TSC2
29 12.16 EIF4EBP1 MTOR RAP1A RPS6KA1 RPS6KB1 TSC2
30
Show member pathways
12.16 EIF4EBP1 MTOR PTEN RHEB RPS6KB1 TSC1
31
Show member pathways
12.15 MTOR RHEB RPS6KB1 TSC2
32 12.15 MTOR PTEN RHEB TSC1 TSC2
33 12.14 EIF4EBP1 MTOR PTEN RPS6KB1
34
Show member pathways
12.09 EIF4EBP1 MTOR RHEB RPS6KB1 TSC2
35 12.08 MTOR PTEN RHEB RPS6KB1 TSC1 TSC2
36 12.05 MTOR NF1 PTEN RAP1A RHEB TSC1
37
Show member pathways
12 MTOR PTEN RPS6KA1 RPS6KB1
38 12 MTOR NF1 PTEN RPS6KB1 TSC1 TSC2
39 11.96 MTOR RHEB TSC2
40
Show member pathways
11.96 EIF4EBP1 MTOR RPS6KB1
41 11.93 PTEN RHEB TBC1D7 TSC1 TSC2
42 11.89 EIF4EBP1 MTOR RPS6KB1
43 11.89 MTOR PTEN RHEB TSC1 TSC2
44 11.77 MTOR RAP1A RPS6KA1 RPS6KB1
45 11.68 CCL26 MTOR RPS6KB1
46 11.67 EIF4EBP1 MTOR RAP1A RPS6KB1
47 11.6 MTOR TSC1 TSC2
48 11.54 TBC1D7 TSC1 TSC2
49 11.48 MTOR TSC1 TSC2
50 11.34 MTOR PTEN RPS6KB1

GO Terms for Tuberous Sclerosis

Cellular components related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.77 DCX EIF4EBP1 GFAP MTOR NF1 PTEN
2 neuron projection GO:0043005 9.55 DCX PTEN RAP1A RPS6KB1 SYP
3 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2
4 cytoplasm GO:0005737 10.1 DBH DCX EIF4EBP1 GFAP MTOR NF1

Biological processes related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.8 NF1 PKD1 PTEN TSC2
2 phosphatidylinositol-mediated signaling GO:0048015 9.79 MTOR PTEN RPS6KB1
3 cellular response to hypoxia GO:0071456 9.77 EIF4EBP1 MTOR PTEN
4 response to nutrient GO:0007584 9.72 MTOR PTEN RPS6KB1
5 positive regulation of endothelial cell proliferation GO:0001938 9.65 CCL26 MTOR NF1
6 response to insulin GO:0032868 9.63 MTOR RPS6KB1 TSC1
7 regulation of long-term neuronal synaptic plasticity GO:0048169 9.62 NF1 SYP
8 visual learning GO:0008542 9.61 DBH MTOR NF1
9 positive regulation of oligodendrocyte differentiation GO:0048714 9.6 MTOR RHEB
10 maternal behavior GO:0042711 9.58 DBH PTEN
11 regulation of cell-matrix adhesion GO:0001952 9.58 NF1 TSC1
12 protein kinase B signaling GO:0043491 9.58 PTEN RPS6KB1 TSC2
13 negative regulation of macroautophagy GO:0016242 9.57 MTOR TSC1
14 regulation of synaptic transmission, GABAergic GO:0032228 9.56 NF1 PTEN
15 anoikis GO:0043276 9.54 MTOR TSC2
16 spinal cord development GO:0021510 9.54 MTOR NF1 PKD1
17 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.52 PTEN TSC2
18 forebrain morphogenesis GO:0048853 9.51 NF1 PTEN
19 negative regulation of TOR signaling GO:0032007 9.5 TBC1D7 TSC1 TSC2
20 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 RPS6KB1 TSC1 TSC2
21 TOR signaling GO:0031929 9.33 EIF4EBP1 MTOR RPS6KB1
22 negative regulation of cell size GO:0045792 9.13 MTOR PTEN TSC1
23 cell cycle arrest GO:0007050 9.02 MTOR PKD1 RHEB TSC1 TSC2
24 positive regulation of GTPase activity GO:0043547 10 CCL26 NF1 RAP1A TBC1D7 TSC2

Molecular functions related to Tuberous Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.02 DCX MTOR PKD1 PTEN RHEB

Sources for Tuberous Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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