TSC1
MCID: TBR024
MIFTS: 63

Tuberous Sclerosis-1 (TSC1) malady

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

Aliases & Classifications for Tuberous Sclerosis-1

Aliases & Descriptions for Tuberous Sclerosis-1:

Name: Tuberous Sclerosis-1 54 13
Tuberous Sclerosis Complex 23 24 25 56 66
Bourneville Syndrome 50 56 66
Bourneville Disease 23 24 25
Tuberous Sclerosis 56 66 69
Tuberous Sclerosis, Type 1 50 29
Tuberous Sclerosis 1 66 69
Epiloia 24 25
Bourneville Pringle Syndrome 24
Bourneville Phakomatosis 25
Bourneville's Syndrome 50
Bourneville's Disease 24
Cerebral Sclerosis 25
Tuberose Sclerosis 25
Sclerosis Tuberosa 25
Phakomatosis Ts 24
Tsc1 66
Ts 66

Characteristics:

Orphanet epidemiological data:

56
tuberous sclerosis complex
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (United Kingdom),1-5/10000 (United Kingdom),1-9/100000 (United States),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: any age;

GeneReviews:

23
tuberous sclerosis-1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course phenotypic variability


GeneReviews:

23
Penetrance After detailed evaluation of each individual known to have a tsc1 or tsc2 pathogenic variant, the penetrance of tsc is now thought to be 100%. rare instances of apparent non-penetrance have been reported; however, molecular studies revealed the presence of two different pathogenic variants in the family and the existence of germline mosaicism in others [connor et al 1986, webb & osborne 1991, rose et al 1999]...

Classifications:



External Ids:

OMIM 54 191100
Orphanet 56 ORPHA805
ICD10 via Orphanet 34 Q85.1
MESH via Orphanet 43 D014402
UMLS via Orphanet 70 C0041341
MeSH 42 D014402

Summaries for Tuberous Sclerosis-1

OMIM : 54 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple... (191100) more...

MalaCards based summary : Tuberous Sclerosis-1, also known as tuberous sclerosis complex, is related to tuberous sclerosis and polycystic kidney disease, infantile severe, with tuberous sclerosis, and has symptoms including seizures, hypothyroidism and precocious puberty. An important gene associated with Tuberous Sclerosis-1 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 skin, kidney and brain, and related phenotypes are Decreased viability and cardiovascular system

Genetics Home Reference : 25 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.

UniProtKB/Swiss-Prot : 66 Tuberous sclerosis 1: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

GeneReviews: NBK1220

Related Diseases for Tuberous Sclerosis-1

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis-1

Diseases related to Tuberous Sclerosis-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 12.7
2 polycystic kidney disease, infantile severe, with tuberous sclerosis 12.2
3 sudanophilic cerebral sclerosis 12.0
4 cerebral sclerosis similar to pelizaeus-merzbacher disease 11.8
5 gilles de la tourette syndrome 11.7
6 turner syndrome 11.6
7 adrenoleukodystrophy 11.2
8 metachromatic leukodystrophy 11.1
9 tsc2 angiomyolipomas, renal, modifier of 11.1
10 trichostasis spinulosa 11.0
11 tumefactive multiple sclerosis 11.0
12 mitochondrial dna depletion syndrome 4a 11.0
13 timothy syndrome 10.9
14 pelizaeus-merzbacher disease 10.8
15 albinism, oculocutaneous, type ib 10.7
16 spermatogenic failure 10 10.3 PKD1 TSC2
17 bruck syndrome 10.3 NF1 PKD1
18 hemolytic anemia due to adenylate kinase deficiency 10.3 MTOR TSC1
19 chronic polyneuropathy 10.2 CCL26 TSC1 TSC2
20 aids - neurological complications 10.2 DCX TSC1 TSC2
21 chromosome 18p tetrasomy 10.2 PKD1 TSC2
22 herpes simplex encephalitic 6 10.2 PTEN TSC1 TSC2
23 polycythemia 10.2 MTOR TSC1 TSC2
24 multiple mitochondrial dysfunctions syndrome 1 10.2 CCL26 PTEN TSC1 TSC2
25 gallbladder cancer 10.2 MTOR TSC1 TSC2
26 childhood teratocarcinoma of the testis 10.2 PTEN TSC1 TSC2
27 diabetes hypogonadism deafness mental retardation 10.2 GFAP SYP
28 melorheostosis with osteopoikilosis 10.2 TSC1 TSC2
29 papillary tumor of the pineal region 10.2 GFAP SYP
30 superior vena cava syndrome 10.2 GFAP SYP TSC2
31 charcot-marie-tooth disease, type 1c 10.2 PKD1 PKHD1 TSC2
32 behcet's syndrome arthropathy 10.2 DBH GFAP SYP
33 neurological consequences of cytomegalovirus infection 10.2 MTOR PTEN TSC1
34 epidermal appendage tumor 10.2 GFAP PTEN SYP
35 aneurysm of sinus of valsalva 10.2 GFAP PTEN SYP
36 cervical adenoid cystic carcinoma 10.2 GFAP NF1
37 postgastrectomy syndrome 10.1 NF1 SYP
38 gangliosidosis gm1 10.1 CCL26 MTOR TSC1 TSC2
39 anemia, hemolytic, rh-null, regulator type 10.1 PKD1 PKHD1 TSC2
40 central neurocytoma 10.1 GFAP NF1 SYP
41 early myoclonic encephalopathy 10.1 GFAP PTEN SYP
42 inner ear cancer 10.1 GFAP SYP TSC1 TSC2
43 pharynx cancer 10.1 GFAP NF1 SYP
44 central nervous system hemangioma 10.1 GFAP NF1 SYP
45 brain stem ependymoma 10.1 GFAP SYP
46 bartter disease 10.1 DCX NF1 PTEN TSC2
47 kidney papillary necrosis 10.1 PKD1 PKHD1 TSC2
48 psoriasis susceptibility 13 10.0 MTOR PKD1 PKHD1 TSC1
49 glomeruloid hemangioma 10.0 GFAP NF1 PTEN SYP
50 spinocerebellar ataxia, autosomal recessive 2 10.0 MTOR RPS6KB1 TSC1 TSC2

Graphical network of the top 20 diseases related to Tuberous Sclerosis-1:



Diseases related to Tuberous Sclerosis-1

Symptoms & Phenotypes for Tuberous Sclerosis-1

Symptoms by clinical synopsis from OMIM:

191100

Clinical features from OMIM:

191100

Human phenotypes related to Tuberous Sclerosis-1:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
3 precocious puberty 56 32 Occasional (29-5%) HP:0000826
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
6 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
7 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
8 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
9 global developmental delay 56 32 Frequent (79-30%) HP:0001263
10 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
11 optic atrophy 56 32 Frequent (79-30%) HP:0000648
12 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
13 emphysema 56 32 Occasional (29-5%) HP:0002097
14 arrhythmia 56 32 Occasional (29-5%) HP:0011675
15 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
16 prominent occiput 56 32 Very frequent (99-80%) HP:0000269
17 hypopigmented skin patches 56 32 Frequent (79-30%) HP:0001053
18 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
19 multiple cafe-au-lait spots 56 32 Frequent (79-30%) HP:0007565
20 gingivitis 56 32 Occasional (29-5%) HP:0000230
21 angiofibromas 56 32 Very frequent (99-80%) HP:0010615
22 confetti-like hypopigmented macules 56 32 Frequent (79-30%) HP:0007449
23 nevus flammeus 56 32 Frequent (79-30%) HP:0001052
24 papule 56 32 Very frequent (99-80%) HP:0200034
25 iris coloboma 56 32 Occasional (29-5%) HP:0000612
26 neoplasm of the pancreas 56 32 Occasional (29-5%) HP:0002894
27 abnormality of the respiratory system 56 32 Occasional (29-5%) HP:0002086
28 abnormality of the liver 56 32 Occasional (29-5%) HP:0001392
29 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
30 aneurysm 56 32 Occasional (29-5%) HP:0002617
31 macrodactyly 56 32 Occasional (29-5%) HP:0004099
32 retinal hamartoma 56 32 Frequent (79-30%) HP:0009594
33 pneumothorax 56 32 Occasional (29-5%) HP:0002107
34 shagreen patch 56 32 Frequent (79-30%) HP:0009721
35 gingival fibromatosis 56 32 Occasional (29-5%) HP:0000169
36 cortical dysplasia 56 32 Frequent (79-30%) HP:0002539
37 renal angiomyolipoma 56 32 Occasional (29-5%) HP:0006772
38 subependymal nodules 56 32 Very frequent (99-80%) HP:0009716
39 subependymal giant-cell astrocytoma 56 32 Very frequent (99-80%) HP:0009718
40 dental enamel pits 56 32 Occasional (29-5%) HP:0009722
41 achromatic retinal patches 56 32 Frequent (79-30%) HP:0009727
42 cardiac rhabdomyoma 56 32 Occasional (29-5%) HP:0009729
43 chylothorax 56 32 Occasional (29-5%) HP:0010310
44 skin tags 56 32 Very frequent (99-80%) HP:0010609
45 pulmonary lymphangiomyomatosis 56 32 Occasional (29-5%) HP:0012798
46 ungual fibroma 56 32 Very frequent (99-80%) HP:0100804
47 subcutaneous nodule 32 HP:0001482
48 autism 32 HP:0000717
49 attention deficit hyperactivity disorder 32 HP:0007018
50 abnormality of the pleura 56 Occasional (29-5%)

UMLS symptoms related to Tuberous Sclerosis-1:


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

GenomeRNAi Phenotypes related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.23 MTOR
2 Decreased viability GR00221-A-1 10.23 RHEB RPS6KA1 RPS6KB1 CDKN1B MTOR NF1
3 Decreased viability GR00221-A-2 10.23 NF1 RPS6KA1
4 Decreased viability GR00221-A-3 10.23 RPS6KA1
5 Decreased viability GR00221-A-4 10.23 RPS6KA1 MTOR NF1
6 Decreased viability GR00301-A 10.23 RPS6KA1 RPS6KB1
7 Decreased viability GR00342-S-1 10.23 RPS6KA1 MTOR
8 Decreased viability GR00342-S-2 10.23 MTOR
9 Decreased viability GR00381-A-1 10.23 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 RHEB MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 RHEB MTOR
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 RHEB MTOR PTEN
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 DBH PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 RHEB TSC1 DBH MTOR PTEN
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 RHEB PTEN
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 MTOR RPS6KB1
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-1:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 PKHD1 PTEN RAP1A RHEB RPS6KB1 TSC1
2 growth/size/body region MP:0005378 10.37 CDKN1B COL5A1 DBH DCX EIF4EBP1 GFAP
3 cellular MP:0005384 10.35 TSC2 CDKN1B EIF4EBP1 GFAP MTOR NF1
4 mortality/aging MP:0010768 10.31 CDKN1B COL5A1 DBH DCX EIF4EBP1 GFAP
5 behavior/neurological MP:0005386 10.3 CDKN1B DBH DCX GFAP MTOR NF1
6 homeostasis/metabolism MP:0005376 10.26 CDKN1B DBH EIF4EBP1 GFAP MTOR NF1
7 endocrine/exocrine gland MP:0005379 10.21 CDKN1B DBH MTOR NF1 PKD1 PKHD1
8 embryo MP:0005380 10.18 COL5A1 MTOR NF1 PKD1 PTEN RHEB
9 nervous system MP:0003631 10.1 PKHD1 PTEN RAP1A RHEB SYP TSC1
10 muscle MP:0005369 10.07 PKD1 PTEN RHEB RPS6KB1 TSC1 CDKN1B
11 integument MP:0010771 10.06 PKD1 PTEN TSC1 TSC2 CDKN1B COL5A1
12 adipose tissue MP:0005375 10.04 PTEN CDKN1B DBH EIF4EBP1 MTOR PKD1
13 liver/biliary system MP:0005370 9.98 CDKN1B NF1 PKD1 PKHD1 PTEN TSC1
14 normal MP:0002873 9.9 COL5A1 DBH GFAP MTOR NF1 PKD1
15 neoplasm MP:0002006 9.87 NF1 PKD1 PTEN RPS6KB1 TSC1 TSC2
16 renal/urinary system MP:0005367 9.56 CDKN1B MTOR NF1 PKD1 PKHD1 PTEN
17 respiratory system MP:0005388 9.17 CDKN1B MTOR NF1 PKD1 PKHD1 PTEN

Drugs & Therapeutics for Tuberous Sclerosis-1

Drugs for Tuberous Sclerosis-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
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 69)
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 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Recruiting NCT02352844 Phase 2
38 OLAParib COmbinations Recruiting NCT02576444 Phase 2
39 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2
40 Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: My Own Specific Treatment Recruiting NCT02029001 Phase 2
41 Phase II Trial of AZD2014 in TSC1/2 Mutated or TSC1/2 Null GC Patients as Second-line Chemotherapy Active, not recruiting NCT03082833 Phase 2
42 Phase II Trial of Vistusertib(AZD2014) Single Agent in TSC1or 2 Null or TSC 1/2 Mutation Solid Cancer Patients Refractory to Standard Chemotherapy Not yet recruiting NCT03166176 Phase 2
43 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Advanced Refractory Solid Tumors or Lymphomas Not yet recruiting NCT03155620 Phase 2
44 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2
45 Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) Completed NCT01031901 Phase 1
46 Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream Completed NCT01853423 Phase 1
47 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1
48 A Phase I Study of BKM120 and Everolimus in Advanced Solid Malignancies Active, not recruiting NCT01470209 Phase 1
49 The Cognitive Variability in NF1 and TSC Monozygotic Twins Unknown status NCT02436746
50 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455

Search NIH Clinical Center for Tuberous Sclerosis-1

Genetic Tests for Tuberous Sclerosis-1

Genetic tests related to Tuberous Sclerosis-1:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis 1 29 24 TSC1
2 Tuberous Sclerosis Complex 24 TSC2

Anatomical Context for Tuberous Sclerosis-1

MalaCards organs/tissues related to Tuberous Sclerosis-1:

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

Publications for Tuberous Sclerosis-1

Articles related to Tuberous Sclerosis-1:

id Title Authors Year
1
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. ( 11175345 )
2000

Variations for Tuberous Sclerosis-1

UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis-1:

66
id Symbol AA change Variation ID SNP ID
1 TSC1 p.Leu191His VAR_009399 rs118203403
2 TSC1 p.Met224Arg VAR_009401 rs118203426
3 TSC1 p.Gln654Glu VAR_009407 rs75820036
4 TSC1 p.Ala726Glu VAR_009408 rs118203655
5 TSC1 p.Thr899Ser VAR_009412 rs76801599
6 TSC1 p.Leu72Pro VAR_054387 rs118203354
7 TSC1 p.Arg500Gln VAR_054391 rs118203538
8 TSC1 p.Leu117Pro VAR_070637 rs118203368
9 TSC1 p.Leu180Pro VAR_070643 rs118203396

ClinVar genetic disease variations for Tuberous Sclerosis-1:

6 (show top 50) (show all 177)
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.569G> C (p.Arg190Pro) single nucleotide variant Likely pathogenic rs118203402 GRCh37 Chromosome 9, 135797300: 135797300
46 TSC1 NM_000368.4(TSC1): c.664-1G> A single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
47 TSC1 NM_000368.4(TSC1): c.664-1G> C single nucleotide variant Pathogenic rs118203423 GRCh37 Chromosome 9, 135796824: 135796824
48 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
49 TSC1 NM_000368.4(TSC1): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203434 GRCh37 Chromosome 9, 135796754: 135796754
50 TSC1 NM_000368.4(TSC1): c.737+1G> A single nucleotide variant Pathogenic rs118203438 GRCh37 Chromosome 9, 135796749: 135796749

Expression for Tuberous Sclerosis-1

Search GEO for disease gene expression data for Tuberous Sclerosis-1.

Pathways for Tuberous Sclerosis-1

Pathways related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CCL26 CDKN1B COL5A1 GFAP MTOR NF1
2
Show member pathways
13.44 CCL26 CDKN1B EIF4EBP1 MTOR PTEN RPS6KB1
3
Show member pathways
13.15 CDKN1B MTOR RHEB RPS6KA1 TSC1 TSC2
4
Show member pathways
13.09 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1 TSC1
5
Show member pathways
13.08 CDKN1B EIF4EBP1 MTOR NF1 PTEN RPS6KB1
6
Show member pathways
13 CDKN1B MTOR PTEN RHEB TSC1 TSC2
7
Show member pathways
12.97 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
8
Show member pathways
12.84 MTOR PTEN RAP1A RHEB RPS6KB1 TSC2
9
Show member pathways
12.84 CDKN1B MTOR PTEN RAP1A RPS6KA1 RPS6KB1
10
Show member pathways
12.81 EIF4EBP1 MTOR PTEN RAP1A RPS6KA1
11 12.63 CDKN1B EIF4EBP1 MTOR PTEN RHEB RPS6KB1
12 12.6 DBH DCX GFAP NF1 SYP
13
Show member pathways
12.56 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
14
Show member pathways
12.53 EIF4EBP1 MTOR PTEN RPS6KA1 RPS6KB1
15
Show member pathways
12.53 EIF4EBP1 MTOR PTEN RHEB RPS6KA1 RPS6KB1
16
Show member pathways
12.49 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
17
Show member pathways
12.48 EIF4EBP1 MTOR RHEB RPS6KA1 RPS6KB1 TSC1
18
Show member pathways
12.47 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
19
Show member pathways
12.43 EIF4EBP1 MTOR PTEN RHEB RPS6KB1 TSC2
20
Show member pathways
12.37 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
21
Show member pathways
12.35 EIF4EBP1 MTOR RPS6KA1 RPS6KB1
22
Show member pathways
12.35 MTOR PTEN RAP1A RPS6KB1
23 12.34 EIF4EBP1 MTOR RPL7A RPS6KB1 TSC1 TSC2
24
Show member pathways
12.33 CDKN1B EIF4EBP1 MTOR RPS6KB1
25
Show member pathways
12.29 CDKN1B EIF4EBP1 MTOR PTEN RHEB RPS6KA1
26
Show member pathways
12.28 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
27 12.26 EIF4EBP1 MTOR PTEN RAP1A RPS6KA1 RPS6KB1
28
Show member pathways
12.2 EIF4EBP1 MTOR PTEN RPS6KB1 TSC2
29
Show member pathways
12.2 EIF4EBP1 MTOR RHEB RPS6KB1 TSC1 TSC2
30 12.19 CDKN1B EIF4EBP1 MTOR PTEN RPS6KB1
31
Show member pathways
12.17 MTOR RHEB TSC1 TSC2
32 12.17 EIF4EBP1 MTOR RAP1A RPS6KA1 RPS6KB1 TSC2
33
Show member pathways
12.16 MTOR RHEB RPS6KB1 TSC2
34 12.16 MTOR PTEN RHEB TSC1 TSC2
35 12.16 MTOR NF1 PTEN RAP1A RHEB TSC1
36
Show member pathways
12.14 CDKN1B EIF4EBP1 MTOR PTEN RHEB RPS6KB1
37
Show member pathways
12.1 EIF4EBP1 MTOR RHEB RPS6KB1 TSC2
38 12.09 MTOR PTEN RHEB RPS6KB1 TSC1 TSC2
39
Show member pathways
12.01 MTOR PTEN RPS6KA1 RPS6KB1
40
Show member pathways
11.97 EIF4EBP1 MTOR RPS6KB1
41 11.96 CDKN1B EIF4EBP1 MTOR RPS6KB1
42 11.96 CDKN1B MTOR NF1 PTEN RPS6KB1 TSC1
43 11.91 PTEN RHEB TSC1 TSC2
44 11.9 MTOR PTEN RHEB TSC1 TSC2
45
Show member pathways
11.83 CDKN1B MTOR TSC2
46 11.79 CDKN1B MTOR RAP1A RPS6KA1 RPS6KB1
47 11.71 CDKN1B MTOR RPS6KB1
48 11.68 CCL26 MTOR RPS6KB1
49 11.68 EIF4EBP1 MTOR RAP1A RPS6KB1
50 11.6 MTOR TSC1 TSC2

GO Terms for Tuberous Sclerosis-1

Cellular components related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 CDKN1B DCX EIF4EBP1 GFAP MTOR NF1
2 neuron projection GO:0043005 9.65 DCX PTEN RAP1A RPS6KB1 SYP
3 cytoplasm GO:0005737 9.55 CDKN1B DBH DCX EIF4EBP1 GFAP MTOR
4 TSC1-TSC2 complex GO:0033596 9.16 TSC1 TSC2

Biological processes related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.89 CDKN1B NF1 PTEN TSC1 TSC2
2 heart development GO:0007507 9.88 NF1 PKD1 PTEN TSC2
3 G1/S transition of mitotic cell cycle GO:0000082 9.8 CDKN1B EIF4EBP1 RPS6KB1
4 response to nutrient GO:0007584 9.77 MTOR PTEN RPS6KB1
5 cellular response to organic cyclic compound GO:0071407 9.73 CDKN1B RAP1A RPS6KB1
6 response to glucose GO:0009749 9.71 CDKN1B PTEN RPS6KB1
7 positive regulation of endothelial cell proliferation GO:0001938 9.7 CCL26 MTOR NF1
8 response to insulin GO:0032868 9.69 MTOR RPS6KB1 TSC1
9 visual learning GO:0008542 9.63 DBH MTOR NF1
10 maternal behavior GO:0042711 9.62 DBH PTEN
11 regulation of cell-matrix adhesion GO:0001952 9.62 NF1 TSC1
12 negative regulation of macroautophagy GO:0016242 9.61 MTOR TSC1
13 regulation of synaptic transmission, GABAergic GO:0032228 9.61 NF1 PTEN
14 response to amino acid GO:0043200 9.61 CDKN1B MTOR RPS6KB1
15 anoikis GO:0043276 9.58 MTOR TSC2
16 negative regulation of protein kinase B signaling GO:0051898 9.58 PKHD1 PTEN TSC2
17 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.57 PTEN TSC2
18 forebrain morphogenesis GO:0048853 9.55 NF1 PTEN
19 protein kinase B signaling GO:0043491 9.54 PTEN RPS6KB1 TSC2
20 spinal cord development GO:0021510 9.5 MTOR NF1 PKD1
21 negative regulation of cellular component movement GO:0051271 9.48 CDKN1B PKHD1
22 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 RPS6KB1 TSC1 TSC2
23 TOR signaling GO:0031929 9.33 EIF4EBP1 MTOR RPS6KB1
24 negative regulation of cell size GO:0045792 9.13 MTOR PTEN TSC1
25 cell cycle arrest GO:0007050 9.1 CDKN1B MTOR PKD1 RHEB TSC1 TSC2
26 negative regulation of apoptotic process GO:0043066 10 CDKN1B PKHD1 PTEN RPS6KA1 RPS6KB1

Molecular functions related to Tuberous Sclerosis-1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.1 CDKN1B DCX MTOR PKD1 PTEN RHEB

Sources for Tuberous Sclerosis-1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....