AT
MCID: ATX030
MIFTS: 83

Ataxia-Telangiectasia (AT)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 56 24 25 58 73 13 37 39
Ataxia Telangiectasia 12 74 52 53 73 36 54 42 43 15 71
Louis-Bar Syndrome 56 74 52 25 58 73
Ataxia-Telangiectasia Variant 58 29 6 71
at 56 52 73
Ataxia-Telangiectasia Syndrome 29 6
At1 56 73
Immunodeficiency with Ataxia Telangiectasia 52
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 52
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 58
a-T 25
Atm 25

Characteristics:

Orphanet epidemiological data:

58
ataxia-telangiectasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
ataxia becomes evident at the end of the first year of life
telangiectasia become evident between the second and eighth year of life
hypersensitivity to ionizing radiation
variant at may present with dystonia only


HPO:

31
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Ataxia-Telangiectasia

Genetics Home Reference : 25 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals. People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.

MalaCards based summary : Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder 1 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Homologous recombination and Cell cycle. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include breast, t cells and lung, and related phenotypes are nystagmus and ataxia

NIH Rare Diseases : 52 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system , and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia , telangiectasias , choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma . A-T is caused by changes (mutations ) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

OMIM : 56 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. (208900)

MedlinePlus : 42 Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 53 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

KEGG : 36 Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.

UniProtKB/Swiss-Prot : 73 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

Wikipedia : 74 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar... more...

GeneReviews: NBK26468

Related Diseases for Ataxia-Telangiectasia

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

Diseases related to Ataxia-Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 7786)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 35.3 NBN MRE11
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 34.3 MRE11 ATM APTX
3 nijmegen breakage syndrome 33.6 TP53 SMC1A RAD50 NBN MRE11 H2AX
4 telangiectasis 33.2 NBN CHEK2 ATM
5 rare breast tumor 32.2 TP53 CHEK2 BRCA1 ATM
6 bile duct cystadenoma 32.2 CHEK2 ATM
7 maxillary sinus adenocarcinoma 32.1 TP53 ATM
8 scrotum squamous cell carcinoma 32.1 H2AX CHEK2 ATM
9 cowden syndrome 31.9 TP53 CHEK2 BRCA1 ATM
10 nephrolithiasis/osteoporosis, hypophosphatemic, 2 31.8 BRCA1 ATM
11 oral leukoplakia 31.7 TP53 PCNA
12 congenital myasthenic syndrome 31.5 TP53 RPA1 FAS-AS1 BRCA1
13 alpha-thalassemia/mental retardation syndrome, x-linked 31.4 TP53 RPA1 RAD50 PRKDC NBN MRE11
14 trichothiodystrophy 1, photosensitive 31.3 TP53BP1 TP53 PRKDC H2AX CHEK2 BRCA1
15 primary autosomal recessive microcephaly 31.2 H2AX CHEK1 BRCA1 ATR ATM
16 bloom syndrome 31.2 H2AX BRCA1 ATM
17 xeroderma pigmentosum, complementation group a 31.1 RPA2 RPA1 ATM
18 bilateral breast cancer 30.9 CHEK2 BRCA1 ATM
19 female breast cancer 30.9 TP53 BRCA1 ATM
20 li-fraumeni syndrome 30.8 TP53 MRE11 CHEK2 CHEK1 BRCA1 ATM
21 sporadic breast cancer 30.7 TP53 NBN H2AX CHEK2 BRCA1 ATM
22 leukemia, acute myeloid 30.6 TP53 H2AX CHEK2 CHEK1 BRCA1 ATM
23 riddle syndrome 30.6 TP53BP1 H2AX BRCA1
24 werner syndrome 30.6 TP53 RPA1 PRKDC NBN MRE11 H2AX
25 microcephaly 30.4 TP53BP1 TP53 SMC1A RAD50 PRKDC NBN
26 hutchinson-gilford progeria syndrome 30.4 TP53BP1 TP53 PRKDC H2AX ATM
27 xeroderma pigmentosum, variant type 30.4 TP53BP1 TP53 RPA2 RPA1 PRKDC H2AX
28 lynch syndrome 30.4 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
29 hereditary breast ovarian cancer syndrome 30.2 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
30 bladder urothelial carcinoma 30.1 TP53BP1 TP53 RPA2 RPA1 PCNA
31 lig4 syndrome 30.0 TP53BP1 PRKDC NBN MRE11 H2AX ATM
32 ovary adenocarcinoma 30.0 TP53 BRCA1 ATM
33 fanconi anemia, complementation group a 30.0 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
34 ovarian disease 29.9 TP53 CHEK2 BRCA1 ATM
35 melanoma, cutaneous malignant 1 29.9 TP53 CHEK2 BRCA1 ATM
36 vulvar intraepithelial neoplasia 29.8 TP53 H2AX
37 adenoid cystic carcinoma 29.8 TP53 CHEK2 BRCA1 ATM
38 endosalpingiosis 29.7 TP53 BRCA1
39 seckel syndrome 29.4 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
40 autosomal recessive cerebellar ataxia 29.3 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
41 severe combined immunodeficiency with sensitivity to ionizing radiation 29.3 TP53BP1 PRKDC ATM
42 congenital hypoplastic anemia 29.2 TP53BP1 CHEK2 CHEK1 BRCA1 ATM
43 autosomal genetic disease 29.1 TP53 CHEK2 BRCA1 ATM
44 breast-ovarian cancer, familial 1 29.1 NBN BRCA1
45 myasthenic syndrome, congenital, 6, presynaptic 29.0 TP53 RPA1 FAS-AS1 BRCA1
46 ataxia-telangiectasia-like disorder 2 12.8
47 ataxia-telangiectasia with generalized skin pigmentation and early death 12.5
48 menarche, age at, quantitative trait locus 1 12.4
49 menopause, natural, age at, quantitative trait locus 1 12.3
50 menopause, natural, age at, quantitative trait locus 2 12.3

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia:



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Human phenotypes related to Ataxia-Telangiectasia:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
5 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
6 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
7 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 mucosal telangiectasiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100579
10 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
11 decreased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) HP:0004313
12 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
13 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
14 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
15 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
16 cellular immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005374
17 aplasia/hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010515
18 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
19 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
20 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
21 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
22 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
23 neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0002664
24 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
25 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
26 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
27 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
28 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
29 aplasia/hypoplasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008065
30 abnormal testis morphology 31 occasional (7.5%) HP:0000035
31 diabetes mellitus 58 31 Frequent (79-30%) HP:0000819
32 neurological speech impairment 58 Very frequent (99-80%)
33 abnormality of eye movement 58 Very frequent (99-80%)
34 cafe-au-lait spot 31 HP:0000957
35 myoclonus 31 HP:0001336
36 immunodeficiency 58 Very frequent (99-80%)
37 abnormality of movement 58 Very frequent (99-80%)
38 sinusitis 31 HP:0000246
39 glucose intolerance 31 HP:0001952
40 dystonia 31 HP:0001332
41 reduced tendon reflexes 31 HP:0001315
42 conjunctival telangiectasia 31 HP:0000524
43 abnormality of the testis 58 Occasional (29-5%)
44 abnormality of the immune system 58 Very frequent (99-80%)
45 prematurely aged appearance 58 Very frequent (99-80%)
46 hypoplasia of the thymus 31 HP:0000778
47 leukemia 31 HP:0001909
48 lymphoma 31 HP:0002665
49 choreoathetosis 31 HP:0001266
50 decreased proportion of cd4-positive t cells 31 HP:0005407

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
tremor
myoclonus
dystonia
choreoathetosis
more
Growth Height:
short stature

Genitourinary Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

Neoplasia:
leukemia
hodgkin lymphoma
non-hodgkin lymphoma
increased risk in heterozygotes

Immunology:
defective b cell differentiation
thymus hypoplasia
normal numbers of b cells
lymphocytopenia
reduced numbers of t cells
more
Skin Nails Hair Hair:
progeric hair changes

Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Head And Neck Head:
sinusitis

Genitourinary Internal Genitalia Female:
hypogonadism

Respiratory Airways:
bronchiectasis
bronchitis

Skin Nails Hair Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Laboratory Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more

Clinical features from OMIM:

208900

UMLS symptoms related to Ataxia-Telangiectasia:


seizures, tremor, myoclonus, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, cerebellar ataxia, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.81 RPA2
2 Decreased viability GR00221-A-1 10.81 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.81 BRCA1 CHEK1 CHEK2 RPA2
4 Decreased viability GR00221-A-3 10.81 BRCA1 CHEK1 ATM CHEK2 RPA2
5 Decreased viability GR00221-A-4 10.81 CHEK1 ATM CHEK2
6 Decreased viability GR00240-S-1 10.81 CHEK1
7 Decreased viability GR00301-A 10.81 ATR BRCA1 CHEK1 RPA1
8 Decreased viability GR00342-S-2 10.81 CHEK2
9 Decreased viability GR00381-A-1 10.81 CHEK1
10 Decreased viability GR00402-S-2 10.81 ATR BRCA1 CHEK1 RPA1 ATM CHEK2
11 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.19 APTX ATM ATR BRCA1 CHEK1 CHEK2
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.1 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.1 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
14 Increased cell death HMECs cells GR00103-A-0 9.85 ATR BRCA1 CHEK1 PCNA PRKDC TP53
15 Decreased viability after gemcitabine stimulation GR00107-A-2 9.78 ATM ATR CHEK1 PRKDC
16 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.72 ATM ATR CHEK1 CHEK2 PRKDC
17 Decreased telomerase activity GR00156-A 9.7 ATR CHEK1 CHEK2
18 Decreased TP53 mRNA expression GR00389-S-5 9.69 ATM CHEK1 TP53
19 Decreased viability after ionizing radiation GR00232-A-2 9.63 ATM BRCA1 PRKDC
20 Decreased viability with cisplatin GR00101-A-4 9.61 ATR BRCA1 RPA1
21 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.58 ATM ATR CHEK1
22 Increased viability with nutlin-3 GR00123-A 9.16 TP53 TP53BP1
23 Synthetic lethal with cisplatin GR00101-A-1 9.13 ATR BRCA1 CHEK1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 APTX ATM ATR BRCA1 CHEK1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.29 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
3 hematopoietic system MP:0005397 10.28 ATM ATR BRCA1 CHEK2 H2AX MRE11
4 homeostasis/metabolism MP:0005376 10.25 APTX ATM ATR BRCA1 CHEK1 CHEK2
5 immune system MP:0005387 10.24 ATM ATR BRCA1 CHEK2 H2AX MRE11
6 growth/size/body region MP:0005378 10.23 ATM ATR BRCA1 H2AX NBN NPAT
7 mortality/aging MP:0010768 10.22 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
8 embryo MP:0005380 10.15 ATM ATR BRCA1 CHEK1 MRE11 NBN
9 adipose tissue MP:0005375 10.07 ATM ATR BRCA1 PCNA PRKDC TP53
10 neoplasm MP:0002006 10.07 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
11 nervous system MP:0003631 9.9 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
12 reproductive system MP:0005389 9.47 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
13 pigmentation MP:0001186 9.43 ATR BRCA1 CHEK1 PRKDC RAD50 TP53

Drugs & Therapeutics for Ataxia-Telangiectasia

Drugs for Ataxia-Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Mecasermin Approved, Investigational Phase 4 68562-41-4
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
6
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Amantadine Approved Phase 4 768-94-5 2130
9
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
10
Metformin Approved Phase 4 657-24-9 14219 4091
11 Estrogens Phase 4
12 Adrenergic Agonists Phase 4
13 Adrenergic alpha-2 Receptor Agonists Phase 4
14 Contraceptive Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Hormone Antagonists Phase 4
17 Antihypertensive Agents Phase 4
18 Hormones Phase 4
19 Estradiol 3-benzoate Phase 4
20 Sympatholytics Phase 4
21 Adrenergic Agents Phase 4
22 Fertility Agents Phase 4
23 Progestins Phase 4
24 Dopamine Agents Phase 4
25 Antiparkinson Agents Phase 4
26 Hypoglycemic Agents Phase 4
27
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
28
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
29
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
30
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
31
Sofosbuvir Approved Phase 3 1190307-88-0 45375808
32 Vaccines Phase 3
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
34 Micronutrients Phase 2, Phase 3
35 Trace Elements Phase 2, Phase 3
36 Nutrients Phase 2, Phase 3
37 Zinc Supplement Phase 2, Phase 3
38 Autonomic Agents Phase 3
39 Gastrointestinal Agents Phase 3
40 Antiemetics Phase 3
41 HIV Protease Inhibitors Phase 3
42
protease inhibitors Phase 3
43 Dexamethasone 21-phosphate Phase 3
44 BB 1101 Phase 3
45 Antineoplastic Agents, Hormonal Phase 3
46 glucocorticoids Phase 3
47 Anti-Infective Agents Phase 3
48 Antiviral Agents Phase 3
49 Liver Extracts Phase 3
50 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Subcutaneous Versus Vaginal Progesterone as Luteal Support in IVF/ICSI Cycles: Which is the Preference Expressed by the Patients? Unknown status NCT03181685 Phase 4 Progesterone 25 MG subcutaneous;Micronized progesterone 200 MG;recombinant FSH;Cetrorelix Acetate
3 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
5 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
6 Does Zinc Supplementation Reduce the Extent of Oxidative Stress Damage in Diabetics? A Randomised Placebo-controlled Study. Completed NCT01309620 Phase 2, Phase 3
7 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
8 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
9 Pharmacokinetics of Low-dose Sofosbuvir in Dialysis-dependent Patients With Hepatitis C Virus Infection Recruiting NCT03883698 Phase 3 Sofosbuvir;Daclatasvir 60 mg
10 A Multicenter, Open, Phase II Study to Estimate the Activity and Safety of Caspofungin (CASP) in the First-Line Treatment of Probable and Proven Invasive Aspergillosis (IA) in Patients With Hematological Malignancies (HM) or Recipients of Autologous Haematopoietic Stem Cell Transplantation and Those With Allogeneic Haematopoietic Stem Cell Transplantation (HSCT) Completed NCT00110045 Phase 2 caspofungin acetate
11 Phase I/II Study of EBV-LMP1 Targeted DNAzyme in Nasopharyngeal Carcinoma Completed NCT01449942 Phase 1, Phase 2
12 Innovative Approaches to Increase F&V Intake Thru Worksites: The Fresh Initiative Completed NCT02729675 Phase 2
13 A Phase IIa Study of the Colonization Efficiency, Safety and Acceptability of LACTIN-V Administered Vaginally to Women With Bacterial Vaginosis Completed NCT00635622 Phase 2 LACTIN-V;Placebo control substance
14 Phase II-b Randomized Double-Blind Placebo-Controlled Trial of Lactobacillus Crispatus CTV-05 (LACTIN-V) to Prevent the Recurrence of Bacterial Vaginosis Completed NCT02766023 Phase 2 Metronidazole
15 A Pharmacokinetic/Pharmacodynamic and Safety Evaluation of Oseltamivir (Tamiflu®) for the Treatment of Children Less Than 24 Months of Age With Confirmed Influenza Infection (CASG 114) Completed NCT00391768 Phase 1, Phase 2 oseltamivir (Tamiflu®)
16 Intravaginal LACTIN-V for Prevention of Recurrent Urinary Tract Infections Completed NCT00305227 Phase 2 Lactin-V;Placebo
17 Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759678 Phase 2 IB1001
18 A Phase 1/2 Proof-of-Concept Study Investigating AZD6738 Monotherapy and Acalabrutinib in Combination With AZD6738 (ATR Inhibitor) in Subjects With Relapsed or Refractory High-risk Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 AZD6738;acalabrutinib
19 A PHASE 2 STUDY TO EVALUATE SAFETY AND ANTI-TUMOR ACTIVITY OF AVELUMAB IN COMBINATION WITH TALAZOPARIB IN PATIENTS WITH BRCA OR ATM MUTANT TUMORS Recruiting NCT03565991 Phase 2 Avelumab;Talazoparib
20 Phase 1/2 Study of 9-ING-41, a Glycogen Synthase Kinase-3 Beta (GSK-3β) Inhibitor, as a Single Agent and Combined With Chemotherapy, in Patients With Refractory Hematologic Malignancies or Solid Tumors Recruiting NCT03678883 Phase 1, Phase 2 9-ING-41;Gemcitabine - 21 day cycle;Doxorubicin.;Lomustine;Carboplatin.;Nab paclitaxel.;Paclitaxel.;Gemcitabine - 28 day cycle;Irinotecan
21 A Phase 1-2 Study of Sirolimus, Docetaxel and Carboplatin for Treatment of Patients With Metastatic, Castration Resistant Prostate Cancer: (Rapamycin Inhibition of DDSP [RID]) Recruiting NCT02565901 Phase 1, Phase 2 Carboplatin;Docetaxel;Sirolimus
22 A Phase II, Open Label, Randomised, Multi-centre Study to Assess the Safety and Efficacy of Agents Targeting DNA Damage Repair in Combination With Olaparib Versus Olaparib Monotherapy in the Treatment of Metastatic Triple Negative Breast Cancer Patients Stratified by Alterations in Homologous Recombinant Repair (HRR)-Related Genes (Including BRCA1/2) (VIOLETTE). Recruiting NCT03330847 Phase 2 Olaparib Continuous (28-Day cycle) 300 mg BD.;AZD6738 160 mg OD + olaparib continuous 300 mg BD (28-day cycle).;Adavosertib 150 mg BD + olaparib 200 mg BD (21-day cycle).
23 Genotoxic Stress, Atherosclerosis, and Metabolic Syndrome-AIM 2 Active, not recruiting NCT00455325 Phase 2 Placebo Comparator Limb 1;Chloroquine;Chloroquine;Chloroquine
24 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Enrolling by invitation NCT03962114 Phase 2
25 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
26 A Phase II Efficacy Study of MK-4827 in Patients With Mantle Cell Lymphoma Withdrawn NCT01244009 Phase 2 MK-4827
27 Phase I Study of ABT-888 in Combination With Gemcitabine in Patients With Advanced Malignancies Completed NCT01154426 Phase 1 Gemcitabine Hydrochloride;Veliparib
28 Phase 1b Trial Evaluating the Safety of Volociximab in Combination With Carboplatin, Paclitaxel, and Bevacizumab in Subjects With Previously Untreated Stage IIIB/IV Non-Squamous Non-Small Cell Lung Cancer (NSCLC) Completed NCT00666692 Phase 1 M200 (Volociximab), Carboplatin, Paclitaxel, Bevacizumab
29 A Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Antitumor Activity of Ascending Doses of Combined Therapy With ATR Inhibitor AZD6738 and Gemcitabine, Using a Model Based Design. Recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
30 An Open-label, First-in-human, Dose-escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Maximum Tolerated Dose and / or Recommended Phase II Dose of the ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
31 A Multicenter, Non-randomized, Open-label Phase 1b Study to Determine the Maximum Tolerated and Recommended Phase 2 Dose of the ATR Inhibitor BAY1895344 in Combination With Pembrolizumab and to Characterize Its Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumor Activity in Patients With Advanced Solid Tumors Recruiting NCT04095273 Phase 1 BAY1895344;Pembrolizumab
32 Phase IB Trial of Radium-223 and Niraparib in Patients With Castrate Resistant Prostate Cancer (NiraRad) Recruiting NCT03076203 Phase 1 Niraparib
33 A Phase I, Multicentre Study to Assess the Safety, Tolerability, and Pharmacokinetics of Ascending Doses of AZD1390 in Combination With Radiation Therapy in Patients With Glioblastoma Multiforme and Brain Metastases From Solid Tumors Recruiting NCT03423628 Phase 1 AZD1390
34 A Clinical Trial to Investigate Biomarker Effects of Pre-Surgical Treatment With DDR Agents in Patients With Head and Neck Squamous Cell Carcinoma (HNSCC) Who Are Planned to Undergo Surgery That is Likely to be Followed by Radiotherapy and/or Chemotherapy. Recruiting NCT03022409 Phase 1 AZD6738;Olaparib
35 Phase I Study of Veliparib (ABT-888), an Oral PARP Inhibitor, and VX-970, an ATR Inhibitor, in Combination With Cisplatin in Patients With Refractory Solid Tumors Recruiting NCT02723864 Phase 1 Veliparib + VX-970 + Cisplatin
36 A Rollover Study to Provide Continued Treatment With M6620 Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
37 A Phase I Study of ABT-888 in Combination With Topotecan Plus Carboplatin for High-Risk Myeloproliferative Disorders and AML Out of Myeloproliferative Disorders Active, not recruiting NCT00588991 Phase 1 Carboplatin;Topotecan Hydrochloride;Veliparib
38 Trial of M4344 and Niraparib in Patients With PARP Resistant Recurrent Ovarian Cancer Not yet recruiting NCT04149145 Phase 1 M4344+Niraparib;M4344+Niraparib
39 The Validity of Forced Expiratory Maneuvers in Ataxia Teleangiectasia Studied Longitudinally Unknown status NCT00951886
40 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of Patients With Ataxia Telangiectasia Unknown status NCT02285348
41 Descriptive Immunogenicity of 2 Doses of Pneumococcal 7-valent Conjugate Vaccine (Prevenar®, Wyeth Lederle) Followed by Pneumococcal Polysaccharide Vaccine (Pneumovax® Aventis Pasteur MSD) in Ataxia-telangiectasia Patients Unknown status NCT01075438
42 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study Unknown status NCT03357978
43 Effect of NAC on Sleep Apnea Unknown status NCT00592618 Oral N-Acetylcysteine 1200 mg x 2/day for 4 weeks
44 APPLICABILITY OF THE INTERNATIONAL ATAXIA RATING SCALE (ICARS) IN YOUNGER PATIENTS AND DEVELOPMENT OF GLOBAL RATING INSTRUMENTS FOR PATIENTS WITH ATAXIA TELANGIECTASIA (AT) Completed NCT01942850
45 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
46 Susceptibility to Infections in Patients With Ataxia Telangiectasia : A Prospective Follow-up Study Completed NCT02345135
47 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
48 Pilot Study I for Treatment of Cancer in Children With Ataxia-Telangiectasia Completed NCT00187057 vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
49 The Effect of Citrate Dialysate on Clot Formation and Anemia in Hemodialysis Patients Completed NCT03470727
50 Xience V at WFUBMC: Real World Outcomes Using Second Generation DES Completed NCT00937573

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

Genetic tests related to Ataxia-Telangiectasia:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 29 ATM
2 Ataxia-Telangiectasia Variant 29

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

40
Breast, T Cells, Lung, Skin, Brain, Bone, Thyroid

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 6261)
# Title Authors PMID Year
1
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 61 24 56 6
22345219 2012
2
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 61 24 56 6
11826028 2002
3
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 61 24 56 6
9497252 1998
4
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 61 24 56 6
9463314 1998
5
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 61 24 56 6
2491181 1989
6
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. 54 61 56 6
10677309 2000
7
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 54 61 56 6
9600235 1998
8
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 61 56 6
10980530 2000
9
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 61 56 6
9887333 1999
10
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 61 56 6
7792600 1995
11
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. 61 56 6
6504056 1984
12
Clinical spectrum of ataxia-telangiectasia in adulthood. 61 24 56
19535770 2009
13
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 61 24 6
16958054 2006
14
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 61 24 56
16832357 2006
15
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 61 24 56
16864838 2006
16
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 61 24 6
15174027 2004
17
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 61 24 6
15054841 2004
18
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 61 24 56
10612394 1999
19
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 61 24 56
9682216 1998
20
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. 61 24 56
9259193 1997
21
Mutations associated with variant phenotypes in ataxia-telangiectasia. 61 24 6
8755918 1996
22
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 61 24 56
1377828 1992
23
Incidence of cancer in 161 families affected by ataxia-telangiectasia. 61 24 56
1961222 1991
24
The CpG dinucleotide and human genetic disease. 56 6
3338800 1988
25
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. 54 61 56
19414482 2009
26
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 54 61 6
9443866 1998
27
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 54 61 6
9792409 1998
28
Heterozygous ATM mutations do not contribute to early onset of breast cancer. 54 61 56
9054948 1997
29
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. 54 61 56
8843194 1996
30
A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. 54 61 56
1423616 1992
31
The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene. 54 61 56
1969227 1990
32
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 61 6
24418350 2014
33
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 61 56
19440741 2010
34
Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells. 54 61 24
19389472 2009
35
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. 61 56
18674748 2008
36
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 61 56
16266405 2005
37
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia. 61 56
16150740 2005
38
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. 61 56
15942625 2005
39
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. 61 6
14695534 2004
40
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer. 61 6
12673794 2003
41
Comprehensive scanning of the ATM gene with DOVAM-S. 61 56
12552559 2003
42
Telomere dysfunction and Atm deficiency compromises organ homeostasis and accelerates ageing. 61 56
12540856 2003
43
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 61 56
12497634 2003
44
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. 61 56
12226795 2002
45
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. 54 61 24
12195425 2002
46
Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts. 61 56
12119422 2002
47
A new type of mutation causes a splicing defect in ATM. 61 6
11889466 2002
48
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 54 61 24
11586300 2001
49
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 54 61 24
11382771 2001
50
The Ataxia telangiectasia gene product is required for oxidative stress-induced G1 and G2 checkpoint function in human fibroblasts. 61 56
11290740 2001

Variations for Ataxia-Telangiectasia

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 3840) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATM NM_000051.3(ATM):c.368del (p.Tyr123fs)deletion Pathogenic 181867 rs730881296 11:108106433-108106433 11:108235706-108235706
2 ATM NM_000051.3(ATM):c.538C>T (p.Gln180Ter)SNV Pathogenic 181910 rs730881333 11:108114721-108114721 11:108243994-108243994
3 ATM NM_000051.3(ATM):c.549_550del (p.His183fs)deletion Pathogenic 181868 rs730881297 11:108114731-108114732 11:108244004-108244005
4 ATM NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter)SNV Pathogenic 181992 rs730881388 11:108142105-108142105 11:108271378-108271378
5 ATM NM_000051.3(ATM):c.3154-2A>GSNV Pathogenic 181940 rs730881357 11:108143447-108143447 11:108272720-108272720
6 ATM NM_000051.3(ATM):c.3526del (p.Leu1176fs)deletion Pathogenic 181873 rs730881302 11:108151843-108151843 11:108281116-108281116
7 ATM NM_001351834.2(ATM):c.4143dup (p.Pro1382fs)duplication Pathogenic 181880 rs730881309 11:108159733-108159734 11:108289006-108289007
8 ATM NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys)SNV Pathogenic 181981 rs564652222 11:108196143-108196143 11:108325416-108325416
9 ATM NM_001330368.2(C11orf65):c.641-26890_641-26886deldeletion Pathogenic 181865 rs730881294 11:108206684-108206688 11:108335957-108335961
10 ATM NM_000051.3(ATM):c.8418+5_8418+8delshort repeat Pathogenic 181866 rs730881295 11:108214099-108214102 11:108343372-108343375
11 ATM NM_000051.3(ATM):c.8988-1G>CSNV Pathogenic 181987 rs730881386 11:108236051-108236051 11:108365324-108365324
12 ATM NM_000051.3(ATM):c.138_141del (p.His46fs)deletion Pathogenic 186975 rs786203370 11:108098566-108098569 11:108227839-108227842
13 ATM NM_000051.3(ATM):c.901+1G>ASNV Pathogenic 186761 rs748840480 11:108115754-108115754 11:108245027-108245027
14 ATM NM_000051.3(ATM):c.1880dup (p.Gln628fs)duplication Pathogenic 185810 rs786202474 11:108123615-108123616 11:108252888-108252889
15 ATM NM_000051.3(ATM):c.2466+1deldeletion Pathogenic 186216 rs786202783 11:108129803-108129803 11:108259076-108259076
16 ATM NM_000051.3(ATM):c.2426C>A (p.Ser809Ter)SNV Pathogenic 187556 rs730881348 11:108129762-108129762 11:108259035-108259035
17 ATM NM_001351834.2(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer)short repeat Pathogenic 186103 rs786202695 11:108139215-108139218 11:108268488-108268491
18 ATM NM_000051.3(ATM):c.2754del (p.Phe918fs)deletion Pathogenic 185985 rs786202608 11:108139250-108139250 11:108268523-108268523
19 ATM NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter)SNV Pathogenic 185137 rs786201957 11:108150282-108150282 11:108279555-108279555
20 ATM NM_001351834.2(ATM):c.3626_3627del (p.Phe1209fs)deletion Pathogenic 187552 rs587782861 11:108153485-108153486 11:108282758-108282759
21 ATM NM_001351834.2(ATM):c.3754_3756delinsCA (p.Tyr1252fs)indel Pathogenic 185042 rs786201886 11:108154961-108154963 11:108284234-108284236
22 ATM NM_000051.3(ATM):c.3760del (p.Val1254fs)deletion Pathogenic 187146 rs786203507 11:108154966-108154966 11:108284239-108284239
23 ATM NM_000051.3(ATM):c.4052del (p.Leu1351fs)deletion Pathogenic 185658 rs786202350 11:108158384-108158384 11:108287657-108287657
24 ATM NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter)SNV Pathogenic 187207 rs762083530 11:108165729-108165729 11:108295002-108295002
25 ATM NM_001330368.2(C11orf65):c.641-8330deldeletion Pathogenic 186516 rs786203008 11:108188128-108188128 11:108317401-108317401
26 ATM NM_000051.3(ATM):c.8036_8051del (p.Asn2679fs)deletion Pathogenic 185795 rs587780640 11:108205720-108205735 11:108334993-108335008
27 ATM NM_000051.3(ATM):c.8305_8317del (p.Trp2769fs)deletion Pathogenic 185616 rs786202318 11:108213982-108213994 11:108343255-108343267
28 ATM NM_001330368.2(C11orf65):c.641-34249delinsAAindel Pathogenic 185742 rs786202418 11:108214047-108214047 11:108343320-108343320
29 ATM NM_000051.3(ATM):c.8786+1G>CSNV Pathogenic 187060 rs17174393 11:108224608-108224608 11:108353881-108353881
30 ATM NM_001330368.2(C11orf65):c.640+31064_640+31065delshort repeat Pathogenic 186546 rs786203030 11:108225582-108225583 11:108354855-108354856
31 ATM NM_000051.3(ATM):c.8835_8836del (p.Leu2946fs)deletion Pathogenic 185902 rs786202547 11:108225585-108225586 11:108354858-108354859
32 ATM NM_000051.3(ATM):c.8942del (p.His2981fs)deletion Pathogenic 187121 rs786203489 11:108235900-108235900 11:108365173-108365173
33 ATM NM_001330368.2(C11orf65):c.641-6794dupduplication Pathogenic 209134 rs797045030 11:108186591-108186592 11:108315864-108315865
34 ATM NM_000051.3(ATM):c.748C>T (p.Arg250Ter)SNV Pathogenic 216024 rs772821016 11:108115600-108115600 11:108244873-108244873
35 ATM NM_000051.3(ATM):c.140C>G (p.Ser47Ter)SNV Pathogenic 216020 rs774185390 11:108098570-108098570 11:108227843-108227843
36 ATM NM_000051.3(ATM):c.2113del (p.Tyr705fs)deletion Pathogenic 216850 rs863224822 11:108124754-108124754 11:108254027-108254027
37 ATM NM_000051.3(ATM):c.2413C>T (p.Arg805Ter)SNV Pathogenic 216021 rs780619951 11:108129749-108129749 11:108259022-108259022
38 ATM NM_000051.3(ATM):c.6752_6755dup (p.Lys2253fs)duplication Pathogenic 216022 rs863224461 11:108196214-108196215 11:108325487-108325488
39 ATM NM_000051.3(ATM):c.1284_1291del (p.Asn429fs)deletion Pathogenic 216019 rs863224460 11:108121476-108121483 11:108250749-108250756
40 ATM NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter)SNV Pathogenic 216023 rs863224462 11:108199898-108199898 11:108329171-108329171
41 ATM NM_001330368.2(C11orf65):c.641-10948_641-10947delshort repeat Pathogenic 218278 rs863225466 11:108190745-108190746 11:108320018-108320019
42 ATM NM_000051.3(ATM):c.3403-?_*(1_?)deldeletion Pathogenic 219910 11:108151722-108236236 11:108280995-108365509
43 ATM NM_000051.3(ATM):c.824del (p.Ser274_Leu275insTer)deletion Pathogenic 220121 rs864622389 11:108115674-108115674 11:108244947-108244947
44 ATM NM_000051.3(ATM):c.1369C>T (p.Arg457Ter)SNV Pathogenic 219999 rs749036865 11:108121561-108121561 11:108250834-108250834
45 ATM NM_001351834.2(ATM):c.1914_1929dup (p.Ser644delinsArgTer)duplication Pathogenic 220196 rs864622415 11:108124555-108124556 11:108253828-108253829
46 ATM NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter)SNV Pathogenic 220358 rs864622490 11:108153523-108153523 11:108282796-108282796
47 ATM NM_001351834.2(ATM):c.4802_4803GT[1] (p.Val1602fs)short repeat Pathogenic 219873 rs864622290 11:108165679-108165680 11:108294952-108294953
48 ATM NM_000051.3(ATM):c.5015del (p.Gly1672fs)deletion Pathogenic 220820 rs864622662 11:108170449-108170449 11:108299722-108299722
49 ATM NM_001330368.2(C11orf65):c.641-16321_641-16314deldeletion Pathogenic 219963 rs864622326 11:108196112-108196119 11:108325385-108325392
50 ATM NM_001330368.2(C11orf65):c.641-18608_641-18607deldeletion Pathogenic 220198 rs864622416 11:108198405-108198406 11:108327678-108327679

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia:

73 (show all 44)
# Symbol AA change Variation ID SNP ID
1 ATM p.Pro292Leu VAR_010802 rs747727055
2 ATM p.Ile323Val VAR_010803 rs587781511
3 ATM p.Phe570Ser VAR_010808 rs777301065
4 ATM p.Asn768Asp VAR_010812
5 ATM p.Arg785Cys VAR_010813 rs587778065
6 ATM p.Leu950Arg VAR_010815 rs786203054
7 ATM p.Leu1001Gln VAR_010816
8 ATM p.His1082Leu VAR_010819
9 ATM p.Glu1091Asp VAR_010820
10 ATM p.Leu1420Pro VAR_010823
11 ATM p.Leu1465Pro VAR_010826 rs730881391
12 ATM p.Pro1566Arg VAR_010827
13 ATM p.Thr1743Ile VAR_010831 rs587779844
14 ATM p.Val1913Gly VAR_010836 rs106050168
15 ATM p.Asp2016Gly VAR_010838 rs587781302
16 ATM p.Gly2063Glu VAR_010839 rs866290641
17 ATM p.Ala2067Asp VAR_010840 rs397514577
18 ATM p.Ser2218Cys VAR_010844
19 ATM p.Arg2227Cys VAR_010846 rs564652222
20 ATM p.Val2424Gly VAR_010854 rs28904921
21 ATM p.Tyr2470Asp VAR_010858 rs876659365
22 ATM p.Trp2491Arg VAR_010860
23 ATM p.His2554Asp VAR_010862
24 ATM p.Asp2625Gln VAR_010863
25 ATM p.Leu2656Pro VAR_010865 rs121434218
26 ATM p.Ile2702Arg VAR_010870 rs876659735
27 ATM p.Ala2726Val VAR_010874
28 ATM p.Cys2824Tyr VAR_010878 rs876660927
29 ATM p.Phe2827Cys VAR_010879 rs121434216
30 ATM p.Pro2829Leu VAR_010880 rs938431501
31 ATM p.Arg2832Cys VAR_010881 rs587779872
32 ATM p.Arg2849Pro VAR_010882 rs587782202
33 ATM p.Ser2855Arg VAR_010883 rs780905851
34 ATM p.Gly2867Arg VAR_010886
35 ATM p.Glu2904Gly VAR_010889 rs786202826
36 ATM p.Arg2909Gly VAR_010890
37 ATM p.Arg3008Cys VAR_010893 rs587782292
38 ATM p.Leu1046Pro VAR_077237 rs568461905
39 ATM p.Gly2023Arg VAR_077238 rs11212587
40 ATM p.Leu2068Ser VAR_077239 rs155511455
41 ATM p.Tyr2080Asp VAR_077240 rs106479546
42 ATM p.Tyr2627His VAR_077241
43 ATM p.Phe2834Leu VAR_077242
44 ATM p.Asn3003Asp VAR_077243 rs1137889

Expression for Ataxia-Telangiectasia

Search GEO for disease gene expression data for Ataxia-Telangiectasia.

Pathways for Ataxia-Telangiectasia

Pathways related to Ataxia-Telangiectasia according to KEGG:

36
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Cell cycle hsa04110
3 Cellular senescence hsa04218

Pathways related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 TP53 RPA2 RPA1 RAD50 PCNA NBN
2
Show member pathways
13.57 TP53BP1 TP53 SMC1A RPA2 RPA1 RAD50
3
Show member pathways
13.26 TP53 RPA2 RPA1 RAD50 NBN MRE11
4
Show member pathways
13.16 TP53 RPA2 RPA1 RAD50 PCNA NBN
5
Show member pathways
13.12 TP53BP1 TP53 RAD50 PCNA NBN MRE11
6
Show member pathways
12.88 TP53 RPA2 RAD50 PRKDC PCNA NBN
7
Show member pathways
12.83 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
8
Show member pathways
12.72 SMC1A RPA2 RPA1 RAD50 NBN MRE11
9
Show member pathways
12.68 TP53BP1 TP53 SMC1A RPA1 PCNA BRCA1
10
Show member pathways
12.6 TP53 RPA2 RPA1 PCNA ATM
11
Show member pathways
12.58 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
12 12.57 TP53 SMC1A PRKDC PCNA CHEK2 CHEK1
13
Show member pathways
12.54 TP53BP1 TP53 RPA2 RPA1 RAD50 NBN
14
Show member pathways
12.51 RPA2 RPA1 RAD50 PCNA NBN MRE11
15
Show member pathways
12.5 TP53 CHEK2 CHEK1 ATR ATM
16
Show member pathways
12.49 TP53 RAD50 NBN MRE11 H2AX ATM
17
Show member pathways
12.45 RPA2 RPA1 PCNA CHEK1 ATR
18
Show member pathways
12.45 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATR
19
Show member pathways
12.44 TP53 SMC1A RPA2 RAD50 PRKDC NBN
20 12.41 TP53 CHEK2 CHEK1 ATR ATM
21 12.4 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
22 12.38 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
23
Show member pathways
12.34 RPA2 RPA1 RAD50 NBN MRE11 BRCA1
24
Show member pathways
12.23 RPA2 RPA1 ATR ATM
25 12.09 TP53 SMC1A RPA2 RPA1 PRKDC PCNA
26 12.05 TRIM29 TP53BP1 TP53 SMC1A RPA2 RPA1
27
Show member pathways
12.01 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
28
Show member pathways
12 TP53BP1 TP53 SMC1A RAD50 NBN MRE11
29 11.95 RPA2 RPA1 BRCA1 ATR
30 11.95 TP53 SMC1A PRKDC CHEK2 CHEK1 BRCA1
31
Show member pathways
11.86 RPA2 RPA1 PCNA
32 11.82 TP53 CHEK2 CHEK1 ATR ATM
33 11.79 RAD50 NBN MRE11 ATM
34 11.77 TP53BP1 SMC1A RAD50 PRKDC NBN MRE11
35 11.75 TP53 SMC1A PCNA NBN CHEK2 CHEK1
36
Show member pathways
11.74 TP53 CHEK2 ATM
37 11.74 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
38 11.73 TP53 BRCA1 ATM
39
Show member pathways
11.69 TP53 CHEK2 CHEK1 ATR ATM
40 11.57 TP53 H2AX ATM
41 11.53 TP53 PCNA BRCA1 ATR ATM
42 11.52 TP53 RAD50 PRKDC PCNA NBN MRE11
43 11.41 PRKDC H2AX CHEK2 CHEK1 ATR ATM
44 11.4 RAD50 PRKDC NBN MRE11 BRCA1
45 11.23 TP53 BRCA1 ATR ATM
46
Show member pathways
11.2 RAD50 NBN MRE11
47
Show member pathways
11.15 RAD50 NBN MRE11 ATM
48 10.85 CHEK1 ATR
49 10.39 TP53 CHEK2

GO Terms for Ataxia-Telangiectasia

Cellular components related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.41 TP53BP1 TP53 SMC1A RPA2 RPA1 RAD50
2 nucleoplasm GO:0005654 10.28 TP53BP1 TP53 SMC1A RPA2 RPA1 RAD50
3 chromosome GO:0005694 10.03 TP53BP1 SMC1A RAD50 NBN MRE11 H2AX
4 nuclear body GO:0016604 9.91 TP53BP1 TP53 RPA2 PCNA BRCA1
5 PML body GO:0016605 9.91 TP53 RPA2 RPA1 NBN MRE11 CHEK2
6 chromatin GO:0000785 9.89 RPA2 PCNA H2AX CHEK1 APTX
7 condensed nuclear chromosome GO:0000794 9.8 SMC1A RAD50 H2AX CHEK1 BRCA1
8 site of double-strand break GO:0035861 9.8 TP53BP1 TP53 RPA2 RAD50 NBN MRE11
9 replication fork GO:0005657 9.7 TP53BP1 TP53 PCNA NBN MRE11 H2AX
10 Mre11 complex GO:0030870 9.65 RAD50 NBN MRE11
11 chromosome, telomeric region GO:0000781 9.61 TP53BP1 RPA2 RAD50 NBN MRE11 H2AX
12 DNA replication factor A complex GO:0005662 9.54 RPA2 RPA1
13 DNA repair complex GO:1990391 9.52 TP53BP1 ATM
14 nuclear chromosome, telomeric region GO:0000784 9.32 TP53BP1 RPA2 RPA1 RAD50 PRKDC PCNA

Biological processes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.22 TP53 SMC1A RAD50 NPAT NBN H2AX
2 viral process GO:0016032 10.12 TP53 RAD50 PCNA MRE11 H2AX
3 double-strand break repair via homologous recombination GO:0000724 10.06 RPA2 RPA1 RAD50 NBN MRE11 H2AX
4 DNA recombination GO:0006310 10.05 RPA2 RPA1 RAD50 PRKDC MRE11 H2AX
5 heart development GO:0007507 10.03 TP53 PRKDC PCNA ATM
6 meiotic cell cycle GO:0051321 10.02 SMC1A RPA1 RAD50 NBN MRE11 H2AX
7 double-strand break repair GO:0006302 10.02 TP53 RAD50 PRKDC NBN MRE11 H2AX
8 double-strand break repair via nonhomologous end joining GO:0006303 10.01 TP53BP1 RAD50 PRKDC NBN MRE11 H2AX
9 peptidyl-serine phosphorylation GO:0018105 10 PRKDC CHEK2 ATR ATM
10 DNA damage checkpoint GO:0000077 9.98 TP53BP1 NBN H2AX CHEK2 CHEK1 ATR
11 telomere maintenance GO:0000723 9.97 RPA2 RPA1 RAD50 PRKDC PCNA NBN
12 DNA replication GO:0006260 9.96 RPA2 RPA1 RAD50 PCNA NBN MRE11
13 cellular response to gamma radiation GO:0071480 9.93 TP53 H2AX CHEK2 ATR ATM
14 regulation of cellular response to heat GO:1900034 9.92 RPA2 RPA1 ATR ATM
15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.91 TP53 PCNA CHEK2 ATM
16 DNA duplex unwinding GO:0032508 9.9 RAD50 NBN MRE11
17 transcription-coupled nucleotide-excision repair GO:0006283 9.9 RPA2 RPA1 PCNA
18 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.9 PRKDC CHEK2 BRCA1 ATM
19 regulation of signal transduction by p53 class mediator GO:1901796 9.9 TP53 RPA2 RPA1 RAD50 NBN MRE11
20 cellular response to UV GO:0034644 9.89 TP53 PCNA ATR
21 somitogenesis GO:0001756 9.89 TP53 PRKDC ATM
22 interstrand cross-link repair GO:0036297 9.89 RPA2 RPA1 ATR
23 DNA double-strand break processing GO:0000729 9.89 RAD50 NBN MRE11 BRCA1 ATM
24 nucleotide-excision repair GO:0006289 9.88 TP53 RPA2 RPA1
25 response to ionizing radiation GO:0010212 9.88 PRKDC H2AX BRCA1 ATM
26 replicative senescence GO:0090399 9.88 TP53 CHEK2 CHEK1 ATR ATM
27 DNA damage response, detection of DNA damage GO:0042769 9.87 RPA2 RPA1 PCNA
28 nucleotide-excision repair, DNA incision GO:0033683 9.87 RPA2 RPA1 PCNA
29 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.87 RPA2 RPA1 PCNA
30 base-excision repair GO:0006284 9.87 TP53 RPA2 RPA1
31 translesion synthesis GO:0019985 9.86 RPA2 RPA1 PCNA
32 positive regulation of DNA repair GO:0045739 9.86 PCNA H2AX BRCA1
33 DNA repair GO:0006281 9.86 TP53BP1 SMC1A RPA2 RPA1 RAD50 PRKDC
34 mismatch repair GO:0006298 9.85 RPA2 RPA1 PCNA
35 reciprocal meiotic recombination GO:0007131 9.85 RAD50 MRE11 ATM
36 chromosome organization GO:0051276 9.85 TP53 SMC1A MRE11
37 telomere capping GO:0016233 9.85 RAD50 PRKDC NBN
38 response to gamma radiation GO:0010332 9.84 TP53 PRKDC CHEK2
39 telomere maintenance via semi-conservative replication GO:0032201 9.83 RPA2 RPA1 PCNA
40 nucleotide-excision repair, DNA gap filling GO:0006297 9.82 RPA2 RPA1 PCNA
41 positive regulation of protein autophosphorylation GO:0031954 9.82 RAD50 NBN MRE11
42 telomere maintenance via telomerase GO:0007004 9.81 RPA1 RAD50 MRE11
43 error-free translesion synthesis GO:0070987 9.81 RPA2 RPA1 PCNA
44 error-prone translesion synthesis GO:0042276 9.8 RPA2 RPA1 PCNA
45 positive regulation of kinase activity GO:0033674 9.8 RAD50 NBN MRE11
46 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.79 TP53 CHEK2 BRCA1
47 positive regulation of telomere maintenance GO:0032206 9.77 RAD50 NBN MRE11
48 DNA damage induced protein phosphorylation GO:0006975 9.75 CHEK2 CHEK1 ATM
49 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 TP53 NBN
50 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.74 ATR ATM

Molecular functions related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TRIM29 TP53BP1 TP53 SMC1A RPA2 RPA1
2 ATP binding GO:0005524 10.06 TP53 SMC1A RAD50 PRKDC CHEK2 CHEK1
3 identical protein binding GO:0042802 10.05 TRIM29 TP53 RAD50 PCNA MRE11 CHEK2
4 protein kinase activity GO:0004672 9.97 PRKDC CHEK2 CHEK1 ATR ATM
5 DNA binding GO:0003677 9.97 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
6 protein serine/threonine kinase activity GO:0004674 9.89 PRKDC CHEK2 CHEK1 ATR ATM
7 ubiquitin protein ligase binding GO:0031625 9.88 TP53 RPA2 CHEK2 BRCA1
8 nucleotide binding GO:0000166 9.8 SMC1A RAD50 CHEK2 CHEK1 ATR ATM
9 single-stranded DNA binding GO:0003697 9.76 RPA2 RPA1 APTX
10 enzyme binding GO:0019899 9.73 TP53 RPA2 PRKDC PCNA H2AX BRCA1
11 p53 binding GO:0002039 9.71 TRIM29 TP53BP1 TP53
12 DNA helicase activity GO:0003678 9.7 RAD50 NBN MRE11
13 G-rich strand telomeric DNA binding GO:0098505 9.56 RPA2 RPA1
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 RAD50 MRE11
15 MutLalpha complex binding GO:0032405 9.48 PCNA ATR
16 single-stranded telomeric DNA binding GO:0043047 9.43 RPA1 RAD50
17 protein N-terminus binding GO:0047485 9.43 TP53 RPA2 NPAT NBN ATM APTX
18 DNA-dependent protein kinase activity GO:0004677 9.4 PRKDC ATM
19 damaged DNA binding GO:0003684 9.23 TP53BP1 RPA2 RPA1 PCNA NBN H2AX

Sources for Ataxia-Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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