TSC2
MCID: TBR026
MIFTS: 66

Tuberous Sclerosis 2 (TSC2)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tuberous Sclerosis 2

MalaCards integrated aliases for Tuberous Sclerosis 2:

Name: Tuberous Sclerosis 2 58 12 76 30 6 15 74
Tuberous Sclerosis, Type 2 77 54 41
Tsc2 Angiomyolipomas, Renal, Modifier of 58 6
Tuberous Sclerosis-2 58 13
Tuberous Sclerosis 76 74
Tsc2 58 76
Tuberous Sclerosis Complex 76
Ts 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
highly variable phenotype
genetic heterogeneity (see )
one-third of cases are familial
prevalence of 1 in 6,000 to 1 in 10,000
many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)
frequent new mutations (~60%) and/or gonadal mosaicism in tsc2


HPO:

33
tuberous sclerosis 2:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Tuberous Sclerosis 2

OMIM : 58 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). (613254)

MalaCards based summary : Tuberous Sclerosis 2, also known as tuberous sclerosis, type 2, is related to polycystic kidney disease, infantile severe, with tuberous sclerosis and subependymal giant cell astrocytoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis 2 is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Akt Signaling and p70S6K Signaling. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are intellectual disability and hypothyroidism

Disease Ontology : 12 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in heterozygous mutation in the TSC2 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 76 Tuberous sclerosis 2: 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.

Wikipedia : 77 Tuberous sclerosis complex (TSC), is a rare multisystem genetic disease that causes non-cancerous... more...

Related Diseases for Tuberous Sclerosis 2

Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

Diseases related to Tuberous Sclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 439)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 32.9 PKD1 TSC2
2 subependymal giant cell astrocytoma 32.7 MTOR TSC1 TSC2
3 focal cortical dysplasia, type ii 32.1 MTOR TSC1 TSC2
4 tuberous sclerosis 1 32.1 MTOR TSC1 TSC2
5 familial adenomatous polyposis 3 32.0 NTHL1 TSC2
6 polycystic kidney disease 1 with or without polycystic liver disease 31.8 MTOR PKD1 TSC1 TSC2
7 subependymal glioma 31.8 MTOR TSC1 TSC2
8 benign ependymoma 31.8 MTOR TSC1 TSC2
9 lissencephaly with cerebellar hypoplasia 31.7 TSC1 TSC2
10 adult hepatocellular carcinoma 31.7 TSC1 TSC2
11 kidney benign neoplasm 31.6 MTOR TSC2
12 polycystic liver disease 1 with or without kidney cysts 31.5 PKD1 TSC1 TSC2
13 angiomyolipoma 31.4 MTOR TSC1 TSC2
14 kidney angiomyolipoma 31.1 MTOR TSC1 TSC2
15 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.4 TSC1 TSC2
16 tuberous sclerosis 30.4 IRS1 MTOR NTHL1 PKD1 TSC1 TSC2
17 hepatic angiomyolipoma 30.4 MTOR TSC2
18 renal cell carcinoma, nonpapillary 30.4 IFNG MTOR TSC1 TSC2
19 polycystic kidney disease 30.1 MTOR PKD1 TSC2
20 cystic kidney disease 30.1 PKD1 TSC1 TSC2
21 lymphangioleiomyomatosis 30.0 MTOR TSC1 TSC2
22 focal epilepsy 29.9 MTOR TSC1 TSC2
23 autosomal dominant polycystic kidney disease 29.8 IGF1 MTOR PKD1 TSC1 TSC2
24 diabetes mellitus 28.7 IFNG IGF1 IRS1 KCNA2 MTOR
25 gilles de la tourette syndrome 12.2
26 turner syndrome 11.9
27 virus-associated trichodysplasia spinulosa 11.7
28 lennox-gastaut syndrome 11.6
29 methylmalonic acidemia 11.3
30 hereditary renal cell carcinoma 11.3
31 renal oncocytoma 11.3
32 timothy syndrome 11.3
33 trichostasis spinulosa 11.2
34 temperature sensitivity complementation, cell cycle specific, k12 11.2
35 spinal cancer 11.2
36 autosomal dominant café au lait spots 11.2
37 pilocytic astrocytoma 11.2
38 soft tissue sarcoma 11.2
39 brain and spinal tumors 11.2
40 cowden syndrome 1 11.1
41 von hippel-lindau syndrome 11.1
42 polycystic kidney disease 4 with or without polycystic liver disease 11.1
43 albinism, oculocutaneous, type ib 11.0
44 corneal dystrophy, fleck 11.0
45 proteus syndrome 11.0
46 neuroblastoma 11.0
47 central nervous system benign neoplasm 11.0
48 acrofacial dysostosis 11.0
49 alpha thalassemia-intellectual disability syndrome type 1 11.0
50 heart cancer 11.0

Graphical network of the top 20 diseases related to Tuberous Sclerosis 2:



Diseases related to Tuberous Sclerosis 2

Symptoms & Phenotypes for Tuberous Sclerosis 2

Human phenotypes related to Tuberous Sclerosis 2:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 hypothyroidism 33 HP:0000821
3 precocious puberty 33 HP:0000826
4 seizures 33 HP:0001250
5 cerebral calcification 33 HP:0002514
6 subcutaneous nodule 33 HP:0001482
7 autism 33 HP:0000717
8 attention deficit hyperactivity disorder 33 HP:0007018
9 specific learning disability 33 HP:0001328
10 wolff-parkinson-white syndrome 33 HP:0001716
11 renal cell carcinoma 33 HP:0005584
12 astrocytoma 33 HP:0009592
13 infantile spasms 33 HP:0012469
14 adenoma sebaceum 33 HP:0009720
15 renal cyst 33 HP:0000107
16 shagreen patch 33 HP:0009721
17 cafe-au-lait spot 33 HP:0000957
18 gingival fibromatosis 33 HP:0000169
19 renal angiomyolipoma 33 HP:0006772
20 subependymal nodules 33 HP:0009716
21 achromatic retinal patches 33 HP:0009727
22 cardiac rhabdomyoma 33 HP:0009729
23 ependymoma 33 HP:0002888
24 hemimegalencephaly 33 HP:0007206
25 cortical tubers 33 HP:0009717
26 chordoma 33 HP:0010762
27 optic nerve glioma 33 HP:0009734
28 subungual fibromas 33 HP:0009724

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
hypothyroidism
precocious puberty

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Neoplasia:
ependymoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
giant cell astrocytoma
more
Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
hamartomatous lesions of the brain
cortical tubers
more
Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more
Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

Genitourinary Kidneys:
renal cysts
tumors of the kidney (may progress to malignancy in less than 2%)

Respiratory Lung:
lymphangiomyomatosis, rare

Laboratory Abnormalities:
increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

Clinical features from OMIM:

613254

UMLS symptoms related to Tuberous Sclerosis 2:


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

GenomeRNAi Phenotypes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.86 DAPK1 MAPKAPK2 MTOR PKD1
2 Decreased viability GR00221-A-1 9.86 DAPK1 MTOR
3 Decreased viability GR00221-A-3 9.86 MAPKAPK2
4 Decreased viability GR00221-A-4 9.86 DAPK1 MTOR
5 Decreased viability GR00342-S-1 9.86 DAPK1 MTOR
6 Decreased viability GR00342-S-2 9.86 MTOR
7 Decreased viability GR00402-S-2 9.86 DAPK1 MAPKAPK2 MTOR PKD1
8 Decreased cell migration GR00055-A-1 9.65 DAPK1 MAPKAPK2 MTOR PKD1 TSC1
9 Decreased substrate adherent cell growth GR00193-A-2 9.55 DAPK1 MAPKAPK2 MTOR
10 Decreased substrate adherent cell growth GR00193-A-3 9.55 DAPK1 MAPKAPK2
11 Decreased viability with paclitaxel GR00179-A-1 9.02 IGF1 MTOR
12 Decreased viability with paclitaxel GR00179-A-2 9.02 IGF1 MTOR
13 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR

MGI Mouse Phenotypes related to Tuberous Sclerosis 2:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 DAPK1 IFNG IGF1 IRS1 MAPKAPK2 MTOR
2 homeostasis/metabolism MP:0005376 10.26 DAPK1 IFNG IGF1 IRS1 MAPKAPK2 MTOR
3 cardiovascular system MP:0005385 10.25 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
4 mortality/aging MP:0010768 10.17 IFNG IGF1 IRS1 KCNA2 MAPKAPK2 MTOR
5 hematopoietic system MP:0005397 10.15 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
6 endocrine/exocrine gland MP:0005379 10.11 IFNG IGF1 IRS1 MTOR NR1H2 PKD1
7 embryo MP:0005380 10.07 IFNG MAPKAPK2 MTOR PKD1 SERPINC1 TSC1
8 nervous system MP:0003631 10.06 DAPK1 IFNG IGF1 KCNA2 MAPKAPK2 MTOR
9 muscle MP:0005369 10.01 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
10 liver/biliary system MP:0005370 10 IFNG IRS1 NR1H2 PKD1 SERPINC1 TSC1
11 neoplasm MP:0002006 9.91 IFNG IGF1 MAPKAPK2 NTHL1 PKD1 TSC1
12 normal MP:0002873 9.8 IFNG IGF1 MAPKAPK2 MTOR NR1H2 PKD1
13 renal/urinary system MP:0005367 9.76 DAPK1 IFNG IGF1 MTOR PKD1 SERPINC1
14 respiratory system MP:0005388 9.43 IFNG IGF1 KCNA2 MTOR PKD1 TSC1
15 skeleton MP:0005390 9.23 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2

Drugs & Therapeutics for Tuberous Sclerosis 2

Drugs for Tuberous Sclerosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 2, Phase 3,Phase 3,Phase 1 159351-69-6 6442177 70789204
4 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3,Phase 1
5 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1
6 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
7 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1
8 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3,Phase 1
9 Antifungal Agents Phase 2, Phase 3,Phase 3,Phase 1
10
Metformin Approved Phase 2 657-24-9 14219 4091
11
Gemcitabine Approved Phase 2 95058-81-4 60750
12
Olaparib Approved Phase 2 763113-22-0 23725625
13
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
14
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
15
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
16
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
17
Adenosine Approved, Investigational Phase 2 58-61-7 60961
18
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
19
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
20
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
21
Racepinephrine Approved Phase 2 329-65-7 838
22
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
23
Trametinib Approved Phase 2 871700-17-3 11707110
24
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
25
Osimertinib Approved Phase 2 1421373-65-0 71496458
26
nivolumab Approved Phase 2 946414-94-4
27
afatinib Approved Phase 2 850140-72-6, 439081-18-2 10184653
28
Ipilimumab Approved Phase 2 477202-00-9
29
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
30
Durvalumab Approved, Investigational Phase 2 1428935-60-7
31
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
32
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
33
MK-1775 Investigational Phase 2 501-36-0, 955365-80-7 24856436 445154
34
Lapatinib Approved March 2007, Investigational Phase 2 388082-78-8, 231277-92-2 208908 9941095
35
Tremelimumab Investigational Phase 2 745013-59-6
36 Antimetabolites, Antineoplastic Phase 2
37 Antimetabolites Phase 2
38 Antiviral Agents Phase 2
39 Protein Kinase Inhibitors Phase 2
40 Hypoglycemic Agents Phase 2
41
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
42 tyrosine Phase 2
43 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
44 Ensartinib Phase 2
45 Immunoconjugates Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Antibodies, Monoclonal Phase 2
48 Angiogenesis Inhibitors Phase 2
49 Immunoglobulins Phase 2
50 Angiogenesis Modulating Agents Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
2 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 Everolimus (RAD001);Everolimus Placebo
3 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
4 Metformin Combined With Chemotherapy for Pancreatic Cancer Completed NCT01210911 Phase 2 gemcitabine;erlotinib;metformin;placebo
5 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
6 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
7 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
8 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
9 Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Copanlisib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;Erdafitinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
10 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
11 Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: My Own Specific Treatment Recruiting NCT02029001 Phase 2 Nilotinib (400 mg BID);Everolimus (10 mg QD);Sorafenib (400 mg BID);Lapatinib (1500 mg QD);Pazopanib (800 mg QD);Olaparib (300 mg BID)
12 Everolimus for Cancer With TSC1 or TSC2 Mutation Active, not recruiting NCT02201212 Phase 2 Everolimus
13 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
14 A Phase I Study of BKM120 and Everolimus in Advanced Solid Malignancies Completed NCT01470209 Phase 1 BKM120;Everolimus
15 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex Recruiting NCT02654340
16 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
17 Expanded Access for ABI-009 in Patients With Advanced Perivascular Epithelioid Cell Tumors (PEComa) and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation Available NCT03817515 ABI-009
18 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919

Search NIH Clinical Center for Tuberous Sclerosis 2

Genetic Tests for Tuberous Sclerosis 2

Genetic tests related to Tuberous Sclerosis 2:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 2 30 IFNG TSC2

Anatomical Context for Tuberous Sclerosis 2

MalaCards organs/tissues related to Tuberous Sclerosis 2:

42
Kidney, Brain, Skin, Eye, Lung, Testes, Bone

Publications for Tuberous Sclerosis 2

Articles related to Tuberous Sclerosis 2:

(show all 32)
# Title Authors Year
1
Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome. ( 30588981 )
2018
2
Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) I+-B-crystallin, and (4) Role of Astrocytes. ( 29103422 )
2017
3
Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway. ( 21134130 )
2011
4
AMP-activated protein kinase inhibits IGF-I signaling and protein synthesis in vascular smooth muscle cells via stimulation of insulin receptor substrate 1 S794 and tuberous sclerosis 2 S1345 phosphorylation. ( 20363874 )
2010
5
The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. ( 18695678 )
2008
6
Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells. ( 14612383 )
2004
7
Prostaglandin E2 mediates phosphorylation and down-regulation of the tuberous sclerosis-2 tumor suppressor (tuberin) in human endometrial adenocarcinoma cells via the Akt signaling pathway. ( 15579767 )
2004
8
Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. ( 12547704 )
2003
9
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2. ( 11888927 )
2002
10
A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. ( 11811958 )
2002
11
The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. ( 11703097 )
2001
12
Transformation of kidney epithelial cells by a quinol thioether via inactivation of the tuberous sclerosis-2 tumor suppressor gene. ( 11398196 )
2001
13
Genetic variants of the tuberous sclerosis 2 tumour suppressor gene in mouse t haplotypes. ( 10584558 )
1999
14
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. ( 10732801 )
1998
15
Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development. ( 9861021 )
1998
16
Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online. ( 10660335 )
1998
17
An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene. ( 9076719 )
1997
18
Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. ( 9250859 )
1997
19
The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. ( 9045618 )
1997
20
A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. ( 9210877 )
1997
21
Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. ( 9173918 )
1996
22
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. ( 8944308 )
1996
23
Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. ( 8789450 )
1996
24
Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. ( 8799170 )
1996
25
Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. ( 8845853 )
1996
26
Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. ( 7558029 )
1995
27
Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. ( 7608212 )
1995
28
The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. ( 8562486 )
1995
29
Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors in the Eker rat. ( 7546222 )
1995
30
The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the tw18 or th20 deletions. ( 7601476 )
1995
31
Identification of tuberous sclerosis 2 messenger RNA splice variants that are conserved and differentially expressed in rat and human tissues. ( 8519695 )
1995
32
Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. ( 7972075 )
1994

Variations for Tuberous Sclerosis 2

UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis 2:

76 (show top 50) (show all 51)
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Leu292Pro VAR_005646 rs45517138
2 TSC2 p.Tyr407Asp VAR_005647 rs45517156
3 TSC2 p.Met449Ile VAR_005648 rs45443091
4 TSC2 p.Arg611Gln VAR_005650 rs28934872
5 TSC2 p.Arg611Trp VAR_005651 rs45469298
6 TSC2 p.Leu826Met VAR_005652 rs45517238
7 TSC2 p.Arg905Gln VAR_005653 rs45517259
8 TSC2 p.Arg905Trp VAR_005654 rs45517258
9 TSC2 p.Asp1084Glu VAR_005655 rs45517286
10 TSC2 p.Arg1200Trp VAR_005656 rs45438205
11 TSC2 p.Pro1227Leu VAR_005657
12 TSC2 p.Arg1240Trp VAR_005658
13 TSC2 p.Asp1295Val VAR_005659
14 TSC2 p.Tyr1549Cys VAR_005661 rs45517355
15 TSC2 p.Asn1643Ile VAR_005663 rs45517380
16 TSC2 p.Tyr1650Cys VAR_005664 rs45501091
17 TSC2 p.Asp1690Tyr VAR_005665 rs137854882
18 TSC2 p.Ala1712Glu VAR_005666
19 TSC2 p.Leu1750Phe VAR_005667 rs45459299
20 TSC2 p.Cys227Tyr VAR_008020 rs45517122
21 TSC2 p.Asn331Lys VAR_008021 rs45517153
22 TSC2 p.Asn486Ile VAR_008022 rs45486599
23 TSC2 p.Pro816Leu VAR_008026 rs45517236
24 TSC2 p.Val1144Met VAR_008027 rs45517294
25 TSC2 p.Pro1315Ser VAR_008028 rs397514916
26 TSC2 p.Pro1709Leu VAR_008030 rs45517393
27 TSC2 p.Arg1743Gln VAR_008031 rs45507199
28 TSC2 p.His1773Pro VAR_008032 rs45517418
29 TSC2 p.Glu1783Gln VAR_008033 rs777166275
30 TSC2 p.Lys258Asn VAR_009417 rs137854875
31 TSC2 p.Arg261Pro VAR_009418 rs45502703
32 TSC2 p.Gly294Glu VAR_009422 rs45487497
33 TSC2 p.Leu361Pro VAR_009426 rs45517147
34 TSC2 p.Asn525Ser VAR_009432 rs45457694
35 TSC2 p.Lys599Met VAR_009435 rs45517202
36 TSC2 p.Ala614Asp VAR_009436 rs45454398
37 TSC2 p.Cys696Tyr VAR_009439 rs45486196
38 TSC2 p.Leu717Arg VAR_009440 rs45517214
39 TSC2 p.Met895Val VAR_009442 rs45470695
40 TSC2 p.Pro1497Arg VAR_009445 rs45497997
41 TSC2 p.Ser1498Asn VAR_009446 rs137854879
42 TSC2 p.His1620Tyr VAR_009448 rs45446901
43 TSC2 p.Asn1643Lys VAR_009449 rs45517381
44 TSC2 p.Asn1651Ser VAR_009450 rs45517382
45 TSC2 p.Pro1675Leu VAR_009451 rs45483392
46 TSC2 p.Asn1681Lys VAR_009452 rs45476793
47 TSC2 p.Ser1704Thr VAR_009453 rs45474691
48 TSC2 p.Arg1743Pro VAR_009454 rs45507199
49 TSC2 p.Leu1744Pro VAR_009455 rs45517413
50 TSC2 p.Ser1653Phe VAR_018603 rs45517383

ClinVar genetic disease variations for Tuberous Sclerosis 2:

6 (show top 50) (show all 4218)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.167A> G (p.Asn56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144165984 GRCh37 Chromosome 16, 2100429: 2100429
2 TSC2 NM_000548.4(TSC2): c.167A> G (p.Asn56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144165984 GRCh38 Chromosome 16, 2050428: 2050428
3 TSC2 NM_000548.4(TSC2): c.223G> A (p.Glu75Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145470784 GRCh37 Chromosome 16, 2100485: 2100485
4 TSC2 NM_000548.4(TSC2): c.223G> A (p.Glu75Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145470784 GRCh38 Chromosome 16, 2050484: 2050484
5 TSC2 NM_000548.4(TSC2): c.1785G> A (p.Gln595=) single nucleotide variant Likely benign rs150352976 GRCh38 Chromosome 16, 2070524: 2070524
6 TSC2 NM_000548.4(TSC2): c.1785G> A (p.Gln595=) single nucleotide variant Likely benign rs150352976 GRCh37 Chromosome 16, 2120525: 2120525
7 TSC2 NM_000548.4(TSC2): c.560A> G (p.Asn187Ser) single nucleotide variant Uncertain significance rs45505405 GRCh38 Chromosome 16, 2055480: 2055480
8 TSC2 NM_000548.4(TSC2): c.560A> G (p.Asn187Ser) single nucleotide variant Uncertain significance rs45505405 GRCh37 Chromosome 16, 2105481: 2105481
9 TSC2 NM_000548.4(TSC2): c.628G> A (p.Ala210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147196739 GRCh38 Chromosome 16, 2056224: 2056224
10 TSC2 NM_000548.4(TSC2): c.628G> A (p.Ala210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147196739 GRCh37 Chromosome 16, 2106225: 2106225
11 TSC2 NM_000548.4(TSC2): c.629C> T (p.Ala210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs764925296 GRCh37 Chromosome 16, 2106226: 2106226
12 TSC2 NM_000548.4(TSC2): c.629C> T (p.Ala210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs764925296 GRCh38 Chromosome 16, 2056225: 2056225
13 TSC2 NM_000548.4(TSC2): c.708C> T (p.Leu236=) single nucleotide variant Conflicting interpretations of pathogenicity rs756121647 GRCh38 Chromosome 16, 2056703: 2056703
14 TSC2 NM_000548.4(TSC2): c.708C> T (p.Leu236=) single nucleotide variant Conflicting interpretations of pathogenicity rs756121647 GRCh37 Chromosome 16, 2106704: 2106704
15 TSC2 NM_000548.4(TSC2): c.775-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs754957491 GRCh37 Chromosome 16, 2107102: 2107102
16 TSC2 NM_000548.4(TSC2): c.775-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs754957491 GRCh38 Chromosome 16, 2057101: 2057101
17 TSC2 NM_000548.4(TSC2): c.837C> T (p.Leu279=) single nucleotide variant Likely benign rs746694709 GRCh37 Chromosome 16, 2107168: 2107168
18 TSC2 NM_000548.4(TSC2): c.837C> T (p.Leu279=) single nucleotide variant Likely benign rs746694709 GRCh38 Chromosome 16, 2057167: 2057167
19 TSC2 NM_000548.4(TSC2): c.944C> T (p.Ser315Leu) single nucleotide variant Uncertain significance rs202082319 GRCh37 Chromosome 16, 2108843: 2108843
20 TSC2 NM_000548.4(TSC2): c.944C> T (p.Ser315Leu) single nucleotide variant Uncertain significance rs202082319 GRCh38 Chromosome 16, 2058842: 2058842
21 TSC2 NM_000548.4(TSC2): c.1095C> T (p.Ile365=) single nucleotide variant Likely benign rs757135168 GRCh37 Chromosome 16, 2110790: 2110790
22 TSC2 NM_000548.4(TSC2): c.1095C> T (p.Ile365=) single nucleotide variant Likely benign rs757135168 GRCh38 Chromosome 16, 2060789: 2060789
23 TSC2 NM_000548.4(TSC2): c.1170G> A (p.Thr390=) single nucleotide variant Benign/Likely benign rs376144933 GRCh38 Chromosome 16, 2061921: 2061921
24 TSC2 NM_000548.4(TSC2): c.1170G> A (p.Thr390=) single nucleotide variant Benign/Likely benign rs376144933 GRCh37 Chromosome 16, 2111922: 2111922
25 TSC2 NM_000548.4(TSC2): c.1244C> T (p.Ala415Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374936223 GRCh38 Chromosome 16, 2061995: 2061995
26 TSC2 NM_000548.4(TSC2): c.1244C> T (p.Ala415Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374936223 GRCh37 Chromosome 16, 2111996: 2111996
27 TSC2 NM_000548.4(TSC2): c.1245G> A (p.Ala415=) single nucleotide variant Benign/Likely benign rs757325185 GRCh37 Chromosome 16, 2111997: 2111997
28 TSC2 NM_000548.4(TSC2): c.1245G> A (p.Ala415=) single nucleotide variant Benign/Likely benign rs757325185 GRCh38 Chromosome 16, 2061996: 2061996
29 TSC2 NM_000548.4(TSC2): c.1588A> G (p.Ile530Val) single nucleotide variant Uncertain significance rs786203470 GRCh37 Chromosome 16, 2114417: 2114417
30 TSC2 NM_000548.4(TSC2): c.1588A> G (p.Ile530Val) single nucleotide variant Uncertain significance rs786203470 GRCh38 Chromosome 16, 2064416: 2064416
31 TSC2 NM_000548.4(TSC2): c.1883G> A (p.Arg628His) single nucleotide variant Uncertain significance rs774895427 GRCh37 Chromosome 16, 2121554: 2121554
32 TSC2 NM_000548.4(TSC2): c.1883G> A (p.Arg628His) single nucleotide variant Uncertain significance rs774895427 GRCh38 Chromosome 16, 2071553: 2071553
33 TSC2 NM_000548.4(TSC2): c.2032G> A (p.Ala678Thr) single nucleotide variant Benign/Likely benign rs200494044 GRCh38 Chromosome 16, 2071869: 2071869
34 TSC2 NM_000548.4(TSC2): c.2032G> A (p.Ala678Thr) single nucleotide variant Benign/Likely benign rs200494044 GRCh37 Chromosome 16, 2121870: 2121870
35 TSC2 NM_000548.4(TSC2): c.2034C> T (p.Ala678=) single nucleotide variant Benign/Likely benign rs781740263 GRCh37 Chromosome 16, 2121872: 2121872
36 TSC2 NM_000548.4(TSC2): c.2034C> T (p.Ala678=) single nucleotide variant Benign/Likely benign rs781740263 GRCh38 Chromosome 16, 2071871: 2071871
37 TSC2 NM_000548.4(TSC2): c.2071C> T (p.Arg691Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs760489473 GRCh38 Chromosome 16, 2071908: 2071908
38 TSC2 NM_000548.4(TSC2): c.2071C> T (p.Arg691Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs760489473 GRCh37 Chromosome 16, 2121909: 2121909
39 TSC2 NM_000548.4(TSC2): c.2153G> A (p.Arg718His) single nucleotide variant Uncertain significance rs45517215 GRCh37 Chromosome 16, 2122297: 2122297
40 TSC2 NM_000548.4(TSC2): c.2153G> A (p.Arg718His) single nucleotide variant Uncertain significance rs45517215 GRCh38 Chromosome 16, 2072296: 2072296
41 TSC2 NM_000548.4(TSC2): c.2322C> T (p.Ile774=) single nucleotide variant Likely benign rs760885994 GRCh37 Chromosome 16, 2122951: 2122951
42 TSC2 NM_000548.4(TSC2): c.2322C> T (p.Ile774=) single nucleotide variant Likely benign rs760885994 GRCh38 Chromosome 16, 2072950: 2072950
43 TSC2 NM_000548.4(TSC2): c.2454C> T (p.Ile818=) single nucleotide variant Likely benign rs786201599 GRCh37 Chromosome 16, 2124299: 2124299
44 TSC2 NM_000548.4(TSC2): c.2454C> T (p.Ile818=) single nucleotide variant Likely benign rs786201599 GRCh38 Chromosome 16, 2074298: 2074298
45 TSC2 NM_000548.4(TSC2): c.2584G> A (p.Ala862Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs759837836 GRCh37 Chromosome 16, 2125838: 2125838
46 TSC2 NM_000548.4(TSC2): c.2584G> A (p.Ala862Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs759837836 GRCh38 Chromosome 16, 2075837: 2075837
47 TSC2 NM_000548.4(TSC2): c.2760C> T (p.Val920=) single nucleotide variant Benign/Likely benign rs149490538 GRCh38 Chromosome 16, 2076508: 2076508
48 TSC2 NM_000548.4(TSC2): c.2760C> T (p.Val920=) single nucleotide variant Benign/Likely benign rs149490538 GRCh37 Chromosome 16, 2126509: 2126509
49 TSC2 NM_000548.4(TSC2): c.2837+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs786203791 GRCh37 Chromosome 16, 2126591: 2126591
50 TSC2 NM_000548.4(TSC2): c.2837+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs786203791 GRCh38 Chromosome 16, 2076590: 2076590

Expression for Tuberous Sclerosis 2

Search GEO for disease gene expression data for Tuberous Sclerosis 2.

Pathways for Tuberous Sclerosis 2

Pathways related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 IGF1 IRS1 MAPKAPK2 MTOR TSC1 TSC2
2
Show member pathways
12.99 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
3
Show member pathways
12.92 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
4
Show member pathways
12.91 CALM1 MAPKAPK2 MTOR TSC1 TSC2 YWHAB
5
Show member pathways
12.83 CALM1 IGF1 IRS1 MTOR TSC1 TSC2
6 12.78 CALM1 DAPK1 IFNG IGF1 MTOR
7
Show member pathways
12.78 CALM1 IGF1 IRS1 MAPKAPK2 MTOR YWHAB
8
Show member pathways
12.78 CALM1 DAPK1 IGF1 IRS1 MTOR TSC2
9
Show member pathways
12.64 CALM1 IRS1 MTOR TSC2
10
Show member pathways
12.63 CALM1 IRS1 MAPKAPK2 MTOR
11
Show member pathways
12.59 CALM1 IGF1 MTOR TSC2
12
Show member pathways
12.57 CALM1 IGF1 IRS1 MTOR TSC1 TSC2
13
Show member pathways
12.5 CALM1 IGF1 IRS1 YWHAB
14
Show member pathways
12.45 IRS1 MTOR TSC1 TSC2
15
Show member pathways
12.44 IGF1 IRS1 MTOR TSC1 TSC2
16
Show member pathways
12.35 IGF1 IRS1 MTOR TSC1 TSC2
17
Show member pathways
12.32 IRS1 MTOR TSC1 TSC2 YWHAB
18
Show member pathways
12.16 IRS1 MTOR TSC1 TSC2
19
Show member pathways
12.14 MTOR TSC1 TSC2 YWHAB
20
Show member pathways
12.12 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
21 12.11 IRS1 MTOR TSC1 TSC2
22 12.1 MTOR TSC1 TSC2 YWHAB
23
Show member pathways
12.08 CALM1 IGF1 MTOR
24
Show member pathways
12.07 IGF1 IRS1 MTOR TSC2
25
Show member pathways
12.05 MTOR TSC1 TSC2
26 12.03 IRS1 MTOR TSC2
27
Show member pathways
12.03 CALM1 DAPK1 IFNG IGF1 MTOR
28 12.03 CALM1 MAPKAPK2 MTOR TSC1 TSC2
29
Show member pathways
11.99 IFNG IRS1 MAPKAPK2
30
Show member pathways
11.98 IGF1 IRS1 MTOR TSC1 TSC2
31
Show member pathways
11.94 CALM1 MTOR TSC2
32
Show member pathways
11.94 IFNG IRS1 MAPKAPK2 MTOR TSC1 TSC2
33
Show member pathways
11.9 IRS1 MTOR NR1H2
34 11.9 IGF1 MTOR TSC1 TSC2
35 11.88 IFNG IGF1 MTOR
36 11.86 CALM1 MTOR YWHAB
37 11.85 IFNG IGF1 MTOR
38 11.83 DAPK1 IRS1 MTOR TSC1 TSC2
39
Show member pathways
11.77 MTOR TSC2 YWHAB
40 11.71 MTOR TSC1 TSC2 YWHAB
41
Show member pathways
11.58 CALM1 IGF1 IRS1 MTOR TSC2 YWHAB
42 11.55 MTOR TSC1 TSC2
43 11.33 CALM1 IGF1 IRS1 MAPKAPK2 MTOR
44 11.31 MTOR TSC1 TSC2
45 11.29 MTOR TSC1 TSC2 YWHAB
46 11.26 IGF1 IRS1 MTOR
47
Show member pathways
11.12 IGF1 MTOR
48 10.99 MAPKAPK2 TSC2 YWHAB
49 10.94 MTOR TSC1
50 10.81 IRS1 MTOR TSC1 TSC2 YWHAB

GO Terms for Tuberous Sclerosis 2

Cellular components related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 IFNG IGF1 MTOR NR1H2
2 peptidyl-serine phosphorylation GO:0018105 9.71 MAPKAPK2 MTOR PKD1
3 cell cycle arrest GO:0007050 9.7 IFNG MTOR PKD1
4 mRNA stabilization GO:0048255 9.51 MAPKAPK2 MTOR
5 positive regulation of glycogen biosynthetic process GO:0045725 9.49 IGF1 IRS1
6 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.48 CALM1 MTOR
7 negative regulation of macroautophagy GO:0016242 9.46 MTOR TSC1
8 MAPK cascade GO:0000165 9.46 CALM1 IRS1 MAPKAPK2 YWHAB
9 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.43 IGF1 MTOR
10 response to insulin GO:0032868 9.43 IRS1 MTOR TSC1
11 positive regulation of protein import into nucleus, translocation GO:0033160 9.4 IFNG IGF1
12 anoikis GO:0043276 9.37 MTOR TSC2
13 negative regulation of cell size GO:0045792 9.32 MTOR TSC1
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.13 IRS1 TSC1 TSC2
15 insulin-like growth factor receptor signaling pathway GO:0048009 8.8 IGF1 IRS1 TSC2

Molecular functions related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 CALM1 DAPK1 IFNG IGF1 IRS1 KCNA2
2 calmodulin-dependent protein kinase activity GO:0004683 9.37 DAPK1 MAPKAPK2
3 insulin receptor binding GO:0005158 9.32 IGF1 IRS1
4 phosphatidylinositol 3-kinase binding GO:0043548 9.26 CALM1 IRS1
5 protein domain specific binding GO:0019904 9.26 CALM1 MTOR PKD1 YWHAB
6 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IRS1

Sources for Tuberous Sclerosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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