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MCID: SPN404
MIFTS: 63

Spinal and Bulbar Muscular Atrophy, X-Linked 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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MalaCards integrated aliases for Spinal and Bulbar Muscular Atrophy, X-Linked 1:

Name: Spinal and Bulbar Muscular Atrophy, X-Linked 1 57
Kennedy Disease 57 12 76 53 25 59 75 55
Spinal and Bulbar Muscular Atrophy 57 76 24 53 25 75 37
Sbma 57 12 24 53 25 59 75
X-Linked Spinal and Bulbar Muscular Atrophy 12 53 25 54 59
Kennedy's Disease 12 25 54 15
Kennedy Spinal and Bulbar Muscular Atrophy 57 25 75
Spinobulbar Muscular Atrophy 12 53 55
Smax1 57 59 75
Kd 57 25 75
Spinal and Bulbar Muscular Atrophy of Kennedy 57 13
Bulbospinal Neuronopathy, X-Linked Recessive 57 73
Bulbospinal Muscular Atrophy, X-Linked 57 25
X-Linked Bulbospinal Amyotrophy 53 59
Bulbo-Spinal Atrophy, X-Linked 44 73
Bulbo-Spinal Atrophy X-Linked 29 6
Bulbospinal Muscular Atrophy 53 54
Xbsn 57 75
Bulbospinal Neuronopathy, X-Linked Recessive; Xbsn 57
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type 40
Spinal and Bulbar Muscular Atrophy X-Linked 1 75
Bulbospinal Neuronopathy X-Linked Recessive 75
Spinal and Bulbar Muscular Atrophy; Sbma 57
X-Linked Spinalbulbar Muscular Atrophy 24
X-Linked Bulbospinal Muscular Atrophy 59
Bulbospinal Muscular Atrophy X-Linked 75
Spinal Bulbar Muscular Atrophy 12
Atrophy, Muscular, Spinobulbar 73
X-Linked Bulbo-Spinal Atrophy 12
Bulbospinal Neuronopathy 73
Kennedy Disease; Kd 57
Kennedy’s Disease 24
Kennedy Syndrome 55
Kennedy Disease) 6
X-Linked Bsma 59

Characteristics:

Orphanet epidemiological data:

59
kennedy disease
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Italy),1-9/100000 (Italy); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
prevalence of 1 in 40,000
slow progression
onset usually between 30 and 50 years of age
mild symptoms may occur in teenage years
childhood onset has been reported
allelic disorder to androgen insensitivity syndrome (ais, )

Inheritance:
x-linked recessive


HPO:

32
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course adult onset slow progression
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Reproductive diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare infertility disorders


Sources

Summaries for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section
NINDS : 54 Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.

MalaCards based summary : Spinal and Bulbar Muscular Atrophy, X-Linked 1, also known as kennedy disease, is related to dentatorubral-pallidoluysian atrophy and machado-joseph disease, and has symptoms including muscular fasciculation, muscle cramp and tremor. An important gene associated with Spinal and Bulbar Muscular Atrophy, X-Linked 1 is AR (Androgen Receptor), and among its related pathways/superpathways are Akt Signaling and Neuroscience. The drugs Prednisone and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include prostate, spinal cord and brain, and related phenotypes are muscular hypotonia and dysarthria

Disease Ontology : 12 A spinal muscular dystrophy that has material basis in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.

Genetics Home Reference : 25 Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).

NIH Rare Diseases : 53 Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Affected people may also have gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a mutation in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy or surgical treatment for gynecomastia.

OMIM : 57 Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; 253300). (313200)

UniProtKB/Swiss-Prot : 75 Spinal and bulbar muscular atrophy X-linked 1: An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy.

Wikipedia : 76 Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy\'s disease, is a progressive... more...

GeneReviews: NBK1333
Sources

Related Diseases for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 dentatorubral-pallidoluysian atrophy 30.4 ATXN3 ATXN7 HTT
2 machado-joseph disease 29.8 ATXN1 ATXN3 ATXN7
3 foster-kennedy syndrome 12.4
4 kawasaki disease 11.8
5 krabbe disease 11.4
6 kniest dysplasia 10.9
7 yt blood group antigen 10.9
8 malignant hyperthermia 1 10.9
9 zap-70 deficiency 10.9
10 muscular atrophy 10.8
11 spinocerebellar ataxia 18 10.3 ATXN3 ATXN7
12 spinocerebellar ataxia 6 10.3 ATXN3 ATXN7
13 spinocerebellar ataxia 17 10.2 ATXN3 ATXN7
14 spinocerebellar ataxia 2 10.2 ATXN3 ATXN7
15 central nervous system disease 10.2 ATXN3 HTT SOD1
16 nervous system disease 10.1 ATXN3 HTT SOD1
17 spinocerebellar degeneration 10.1 ATXN1 ATXN3
18 spinocerebellar ataxia 31 10.1 ATXN3 ATXN7
19 charcot-marie-tooth disease, axonal, type 2k 10.0 DNAJB2 HSPB8
20 hepatitis 10.0
21 cerebellar disease 10.0 ATXN3 ATXN7
22 dermatitis 9.9
23 cicatricial pemphigoid 9.9
24 bullous pemphigoid 9.9
25 dermatitis, atopic 9.9
26 leukemia 9.9
27 hepatitis c 9.9
28 3-methylglutaconic aciduria, type iii 9.8
29 nasopharyngitis 9.8
30 arachnoiditis 9.8
31 olfactory groove meningioma 9.8
32 contact dermatitis 9.8
33 neuronitis 9.8
34 meningitis 9.8
35 asthma 9.7
36 graft-versus-host disease 9.7
37 arthritis 9.7
38 autoimmune hepatitis 9.7
39 brain ischemia 9.7
40 cholestasis 9.7
41 intrahepatic cholestasis 9.7
42 ischemia 9.7
43 lupus erythematosus 9.7
44 psoriasis 9.7
45 lichen planus 9.7
46 glioma 9.7
47 lichen planus pemphigoides 9.7
48 tuberculous meningitis 9.7
49 endotheliitis 9.7
50 spinocerebellar ataxia 12 9.7 ATXN1 ATXN3 ATXN7

Graphical network of the top 20 diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:



Diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1
Sources

Symptoms & Phenotypes for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
fasciculations
bulbar weakness
atrophy and weakness of the tongue, jaw, and throat muscles
more
Genitourinary External Genitalia Male:
testicular atrophy

Neurologic Peripheral Nervous System:
hyporeflexia
decreased sensory nerve action potentials
peripheral sensory neuropathy, mild

Laboratory Abnormalities:
increased serum creatine kinase
decreased or increased serum testosterone
abnormal lipid profile

Head And Neck Face:
weakness of the facial muscles

Abdomen Gastrointestinal:
dysphagia
choking

Endocrine Features:
decreased fertility

Chest Breasts:
gynecomastia

Muscle Soft Tissue:
muscle biopsy shows neurogenic atrophy
muscle cramping
secondary myopathic features
calf hypertrophy (uncommon)

Head And Neck Mouth:
atrophy and weakness of the tongue, jaw, and throat muscles


Clinical features from OMIM:

313200

Human phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 dysphonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001618
5 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 testicular atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000029
8 abnormality of lipid metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0003119
9 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
10 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
11 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
12 erectile abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0100639
13 tremor 32 HP:0001337
14 dysphagia 32 HP:0002015
15 elevated serum creatine phosphokinase 32 HP:0003236
16 abnormality of movement 59 Very frequent (99-80%)
17 sensory neuropathy 32 HP:0000763
18 peripheral neuropathy 32 HP:0009830
19 abnormality of the mouth 32 HP:0000153
20 muscle cramps 32 HP:0003394
21 fasciculations 32 HP:0002380
22 limb muscle weakness 32 HP:0003690
23 bulbar palsy 32 HP:0001283
24 calf muscle hypertrophy 32 HP:0008981

UMLS symptoms related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:


muscular fasciculation, muscle cramp, tremor, facial paresis

GenomeRNAi Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 ATXN7 ATXN3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.72 ATXN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.72 SOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 ATXN3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.72 ATXN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.72 SOD1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 ATXN7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.72 SOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.72 ATXN3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 ATXN7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.72 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 ATXN7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.72 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 ATXN3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.72 SOD1 ATXN3 ATXN7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 ATXN7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 ATXN3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 ATXN3

MGI Mouse Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
2 growth/size/body region MP:0005378 9.86 AR ATXN1 ATXN7 CREBBP FMR1 HSP90AA1
3 muscle MP:0005369 9.63 AR ATXN1 ATXN7 CREBBP HSPB8 SOD1
4 nervous system MP:0003631 9.56 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
5 skeleton MP:0005390 9.17 HSP90AA1 HTT SOD1 AR ATXN1 ATXN7
Sources

Drugs & Therapeutics for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section

Drugs for Spinal and Bulbar Muscular Atrophy, X-Linked 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 266)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 53-03-2 5865
2
Docetaxel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 114977-28-5 148124
3
Goserelin Approved Phase 4,Phase 2 65807-02-5 47725 5311128
4
Eplerenone Approved Phase 4 107724-20-9 150310 443872
5
Spironolactone Approved Phase 4,Phase 3,Early Phase 1 1952-01-7, 52-01-7 5833
6
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
7
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
8
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
9
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
10 Deslorelin Investigational, Vet_approved Phase 4,Phase 2 57773-65-6
11 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
17 Contraceptive Agents Phase 4,Phase 2,Phase 1
18 glucocorticoids Phase 4,Phase 2,Phase 1,Not Applicable
19 Steroid Synthesis Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
20 Antimitotic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 diuretics Phase 4,Phase 3,Early Phase 1
22 Diuretics, Potassium Sparing Phase 4,Phase 3,Early Phase 1
23 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Early Phase 1
24 Mineralocorticoids Phase 4,Phase 3,Phase 2,Early Phase 1
25 Natriuretic Agents Phase 4,Phase 3,Early Phase 1
26 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 insulin Phase 4
28 Insulin, Globin Zinc Phase 4
29 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30
Abiraterone acetate Phase 4,Phase 2,Phase 1,Not Applicable 154229-18-2 57336518
31 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
32 Luteolytic Agents Phase 4,Phase 2,Phase 1
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Early Phase 1
34 Triptorelin Pamoate Phase 4,Phase 2
35
Bicalutamide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 90357-06-5 56069 2375
36
Tibolone Approved, Investigational Phase 3 5630-53-5
37
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
38
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
39
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
40
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
41
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
42
Benzoyl peroxide Approved Phase 3 94-36-0 7187
43
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
44 tannic acid Approved, Nutraceutical Phase 3,Phase 2
45
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
47 Androgen Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
48 Estrogens Phase 3,Phase 2,Phase 1
49 Antihypertensive Agents Phase 3
50 Estrogen Receptor Modulators Phase 3

Interventional clinical trials:

(show top 50) (show all 223)
# Name Status NCT ID Phase Drugs
1 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
2 Reduction of Left Ventricular Hypertrophy After Eplerenone Therapy Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
3 Testosterone for Men With Insulin Treated Type 2 Diabetes Completed NCT00349362 Phase 4 Testosterone;0.9% saline
4 Cognitive Effects of Androgen Receptor Directed Therapies for Advanced Prostate Cancer Recruiting NCT03016741 Phase 4 Prednisone;Abiraterone Acetate;Enzalutamide
5 Cabazitaxel Versus the Switch to Alternative AR-targeted Agent (Enzalutamide or Abiraterone) in Metastatic Castration-resistant Prostate Cancer (mCRPC) Patients Previously Treated With Docetaxel and Who Rapidly Failed a Prior AR-targeted Agent Recruiting NCT02485691 Phase 4 cabazitaxel XRP6258;enzalutamide;abiraterone acetate;prednisone
6 A Study to Investigate the Effects of Tibolone (Livial®) on Breast Tissue in Postmenopausal Women With Breast Cancer (Study 32971)(P06469) Completed NCT00725374 Phase 3 tibolone;placebo
7 Vaginal Progesterone Supplementation in Women With PCOS Undergoing Ovulation Induction With Letrozole Completed NCT03440359 Phase 2, Phase 3 Progesterone Vaginal Gel 8%;Letrozole Oral Tablet;Ovidrel 250 MCG Per 0.5 ML Prefilled Syringe
8 Positive Surgical Margins Rate and EGFR Family Members Expression in Prostate Cancer Treated With Bicalutamide Completed NCT00421694 Phase 2, Phase 3 Bicalutamide
9 Hormone and Information Processing Study Completed NCT00539305 Phase 3 testosterone gel;placebo gel
10 Bicalutamide in Treatment of Androgen Receptor (AR) Positive Metastatic Triple Negative Breast Cancer Recruiting NCT03055312 Phase 3 TPC;Bicalutamide 150 mg
11 Randomized Double-blind Study on the Benefit of Spironolactone for Treating Acne of Adult Woman. Recruiting NCT03334682 Phase 3 spironolactone;Doxycycline
12 An Asian Study to Evaluate Efficacy and Safety of Oral Enzalutamide in Progressive Metastatic Prostate Cancer Participants Active, not recruiting NCT02294461 Phase 3 Enzalutamide;Placebo
13 A Study of SHR3680 in Treating Patients With Hormone Sensitive Prostate Cancer Not yet recruiting NCT03520478 Phase 3 SHR3680;Bicalutamide
14 A Study of Galeterone Compared to Enzalutamide In Men Expressing Androgen Receptor Splice Variant-7 mRNA (AR-V7) Metastatic CRPC Terminated NCT02438007 Phase 3 Galeterone;Enzalutamide
15 Biomarker Study of Neoadjuvant Vitamin E in Patients With Locally Treatable Prostate Cancer Terminated NCT00809458 Phase 3 Vitamin E
16 AR-inhibitor Bicalutamide in Treating Patients With TNBC Unknown status NCT02353988 Phase 2 Bicalutamide
17 A Study to Determine the Value of 18F-FAZA PET Imaging in Patients With Breast Cancer Unknown status NCT00771381 Phase 2 18F-FAZA PET scan;FluGlucoScan Injection (18F-FDB) PET scan
18 Neoadjuvant Finasteride for Patients With Non-small Cell Lung Cancer Unknown status NCT02055170 Phase 2 finasteride 5mg oral daily
19 A Study of Sipuleucel-T With Administration of Enzalutamide in Men With Metastatic Castrate-Resistant Prostate Cancer Unknown status NCT01981122 Phase 2 enzalutamide
20 Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) Completed NCT00303446 Phase 2 Dutasteride;Placebo
21 Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02024932 Phase 2 BVS857;Placebo
22 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
23 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
24 Dynamics of Androgen Receptor Genomics and Transcriptomics After Neoadjuvant Androgen Ablation Completed NCT03297385 Phase 2 Enzalutamide
25 Oral VT-464 in Patients With Castration-Resistant Prostate Cancer Previously Treated With Enzalutamide, Androgen Receptor Positive Triple-Negative Breast Cancer Patients, and Men With ER Positive Breast Cancer Completed NCT02130700 Phase 2 VT-464: given orally twice daily in 28-day cycles;VT-464: given orally once daily in 28-day cycles
26 Abiraterone Acetate Combined With Dutasteride for Metastatic Castrate Resistant Prostate Cancer Completed NCT01393730 Phase 2 Abiraterone acetate;Dutasteride;Prednisone
27 AR and ER Imaging in Metastatic Breast Cancer Completed NCT01988324 Phase 2
28 Phase II Study of GTx024 in Women With Metastatic Breast Cancer Completed NCT01616758 Phase 2 GTx-024 9mg
29 Cabazitaxel Versus the Switch to Alternative AR Targeted Therapy Enzalutamide or Abiraterone in Metastatic Castration-Resistant Prostate Cancer (mCRPC) Primary Resistant Patients to Abiraterone or Enzalutamide Completed NCT02379390 Phase 2 Cabazitaxel XRP6258;Ezalutamide;Abiraterone acetate;Prednisone
30 Early Switch From First-Line Docetaxel/Prednisone to Cabazitaxel/Prednisone and the Opposite Sequence, Exploring Molecular Markers in Men With Metastatic Castration-Resistant Prostate Cancer (mCRPC) Completed NCT01718353 Phase 2 DOCETAXEL (XRP6976);CABAZITAXEL (XRP6258);Prednisone
31 A Phase 2 Study of ASC-J9 Cream in Acne Vulgaris Completed NCT00525499 Phase 2 ASC-J9 cream;placebo
32 Mifepristone (RU-486) in Androgen Independent Prostate Cancer Completed NCT00140478 Phase 2 Mifepristone
33 Androgen Deprivation Therapy and Vorinostat Followed by Radical Prostatectomy in Treating Patients With Localized Prostate Cancer Completed NCT00589472 Phase 2 Bicalutamide;Goserelin Acetate;Leuprolide Acetate;Vorinostat
34 Abiraterone Acetate in Treating Postmenopausal Women With Advanced or Metastatic Breast Cancer Completed NCT00755885 Phase 1, Phase 2 abiraterone acetate
35 Diindolylmethane in Treating Patients With Stage I or Stage II Prostate Cancer Undergoing Radical Prostatectomy Completed NCT00888654 Phase 2 B-Dim
36 Topical ASC-J9 Cream for Acne Completed NCT01289574 Phase 2 ASC-J9
37 Maximal Suppression of the Androgen Axis in Clinically Localized Prostate Cancer Completed NCT00298155 Phase 2 goserelin with dutasteride;goserelin with bicalutamide and dutasteride;goserelin with bicalutamide and dutasteride and ketoconazole
38 Efficacy and Safety of S-Equol on Men With Benign Prostatic Hyperplasia Completed NCT00962390 Phase 2 S-equol;Placebo
39 Finasteride in Treating Patients With Stage II Prostate Cancer Who Are Undergoing Surgery Completed NCT00438464 Phase 2 Finasteride
40 A Study to Assess the Safety of Continued Administration of MDV3100 in Subjects With Prostate Cancer Who Showed Benefit From Prior Exposure to MDV3100 Completed NCT01534052 Phase 2 Enzalutamide
41 Safety and Efficacy Studies of Panobinostat and Bicalutamide in Patients With Recurrent Prostate Cancer After Castration Completed NCT00878436 Phase 1, Phase 2 Panobinostat;Bicalutamide
42 Study of Enzalutamide (Formerly MDV3100) as a Neoadjuvant Therapy for Patients Undergoing Prostatectomy for Localized Prostate Cancer Completed NCT01547299 Phase 2 Enzalutamide;Leuprolide;Dutasteride
43 Study of Erlotinib in Patients With Non-Metastatic Prostate Cancer With a Rising Prostate Specific Antigen (PSA) on Hormone Therapy Completed NCT00148772 Phase 2 Erlotinib (Tarceva)
44 A Phase 2 Study to Evaluate Safety and Efficacy of Abiraterone Acetate in Male Participants With Prostate Cancer Completed NCT00924469 Phase 2 Abiraterone;Leuprolide;Prednisone
45 SWITCH: Study of the Prednisone to Dexamethasone Change in mCRPC Patients Treated With Abiraterone Completed NCT02928432 Phase 2 Steroids switch
46 A Study to Determine Safety and Tolerability of Enzalutamide (MDV3100) in Combination With Abiraterone Acetate in Bone Metastatic Castration-Resistant Prostate Cancer Patients Completed NCT01650194 Phase 2 enzalutamide;abiraterone acetate;prednisone
47 Degarelix Neo-Adjuvant Radical Prostatectomy Trial Completed NCT01674270 Phase 2 Degarelix;Casodex;LHRH Agonist
48 A Selective Androgen Receptor Modulator for Symptom Management in Prostate Cancer Recruiting NCT02499497 Phase 2 LY2452473;Placebo
49 Study on Androgen Receptor and Triple Negative Breast Cancer Recruiting NCT03383679 Phase 2 Darolutamide;Capecitabine
50 Androgen Receptor Antagonist ARN-509 With or Without Abiraterone Acetate, Gonadotropin-Releasing Hormone Analog, and Prednisone in Treating Patients With High-Risk Prostate Cancer Undergoing Surgery Recruiting NCT02949284 Phase 2 Abiraterone Acetate;Androgen Receptor Antagonist ARN-509;Prednisone

Search NIH Clinical Center for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Cochrane evidence based reviews: bulbo-spinal atrophy, x-linked

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Genetic Tests for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Genetic tests related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

# Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked 29 AR
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Anatomical Context for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

41
Prostate, Spinal Cord, Brain, Tongue, Skin, Bone, Testes
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Publications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Articles related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

(show all 21)
# Title Authors Year
1
Kennedy Disease Misdiagnosed as Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes (POEMS) Syndrome: A Case Report. ( 26618536 )
2016
2
Very late-onset Sandhoff disease presenting as Kennedy disease. ( 26769462 )
2015
3
[Investigation of a family with Kennedy disease by genetic analysis]. ( 25449081 )
2014
4
Kennedy disease misdiagnosed as polymyositis: a case report. ( 24073646 )
2013
5
[Kennedy disease in Peru: first cases with molecular diagnosis]. ( 23949524 )
2013
6
Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease). ( 22381992 )
2012
7
Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease). ( 22006688 )
2011
8
[Clinical and genetic analysis of a pedigree of Kennedy disease]. ( 21984161 )
2011
9
Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. ( 20886071 )
2010
10
Determinants of double discharges in amyotrophic lateral sclerosis and Kennedy disease. ( 19775935 )
2009
11
Abnormal eye movements in Kennedy disease. ( 19398709 )
2009
12
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. ( 19692580 )
2009
13
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). ( 19171827 )
2009
14
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. ( 18321505 )
2008
15
Men with Kennedy disease have a reduced risk of androgenetic alopecia. ( 17596176 )
2007
16
Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. ( 17908088 )
2007
17
Widespread white matter changes in Kennedy disease: a voxel based morphometry study. ( 17332050 )
2007
18
Hyperestrogenemia simulating kennedy disease. ( 18090681 )
2007
19
Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. ( 16981011 )
2006
20
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. ( 11436124 )
2001
21
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. ( 7702080 )
1995
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Variations for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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ClinVar genetic disease variations for Spinal and Bulbar Muscular Atrophy, X-Linked 1:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
2 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
3 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs193922933 GRCh37 Chromosome X, 66765160: 66765162
4 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs193922933 GRCh38 Chromosome X, 67545318: 67545320
5 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
6 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
7 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
8 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
9 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh37 Chromosome X, 66765160: 66765162
10 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh38 Chromosome X, 67545318: 67545320
11 AR NM_000044.4(AR): c.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs797045254 GRCh37 Chromosome X, 66765219: 66765227
12 AR NM_000044.4(AR): c.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs797045254 GRCh38 Chromosome X, 67545377: 67545385
13 AR NM_000044.4(AR): c.2257C> T (p.Arg753Ter) single nucleotide variant Pathogenic rs886039558 GRCh37 Chromosome X, 66937403: 66937403
14 AR NM_000044.4(AR): c.2257C> T (p.Arg753Ter) single nucleotide variant Pathogenic rs886039558 GRCh38 Chromosome X, 67717561: 67717561
15 AR NM_000044.4(AR) undetermined variant Uncertain significance rs193922933 GRCh37 Chromosome X, 66765160: 66765162
16 AR NM_000044.4(AR) undetermined variant Uncertain significance rs193922933 GRCh38 Chromosome X, 67545318: 67545320
17 AR NM_000044.4(AR) NT expansion risk factor GRCh37 Chromosome X, 66765160: 66765162
18 AR NM_000044.4(AR) NT expansion risk factor GRCh38 Chromosome X, 67545318: 67545320
19 AR NM_000044.4(AR) NT expansion Pathogenic GRCh37 Chromosome X, 66765160: 66765162
20 AR NM_000044.4(AR) NT expansion Pathogenic GRCh38 Chromosome X, 67545318: 67545320
21 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign GRCh37 Chromosome X, 66765160: 66765162
22 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign GRCh38 Chromosome X, 67545318: 67545320
23 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765201: 66765227
24 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545359: 67545385
25 AR NM_000044.4(AR): c.225_239delGCAGCAGCAGCAGCA (p.Gln76_Gln80del) deletion Benign rs3032358 GRCh38 Chromosome X, 67545371: 67545385
26 AR NM_000044.4(AR): c.225_239delGCAGCAGCAGCAGCA (p.Gln76_Gln80del) deletion Benign rs3032358 GRCh37 Chromosome X, 66765213: 66765227
27 AR NM_000044.4(AR): c.237_239dup (p.Gln80_Glu81insGln) duplication Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545383: 67545385
28 AR NM_000044.4(AR): c.237_239dup (p.Gln80_Glu81insGln) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765225: 66765227
29 AR NM_000044.4(AR): c.1412_1420delGCGGCGGCG (p.Gly471_Gly473del) deletion Benign/Likely benign rs746853821 GRCh38 Chromosome X, 67546558: 67546566
30 AR NM_000044.4(AR): c.1412_1420delGCGGCGGCG (p.Gly471_Gly473del) deletion Benign/Likely benign rs746853821 GRCh37 Chromosome X, 66766400: 66766408
31 AR NM_000044.4(AR): c.1415_1420delGCGGCG (p.Gly472_Gly473del) deletion Likely benign rs746853821 GRCh37 Chromosome X, 66766403: 66766408
32 AR NM_000044.4(AR): c.1415_1420delGCGGCG (p.Gly472_Gly473del) deletion Likely benign rs746853821 GRCh38 Chromosome X, 67546561: 67546566
33 AR NC_000023.11: g.(?_67686010)_(67686126_?)del deletion Pathogenic GRCh38 Chromosome X, 67686010: 67686126
34 AR NC_000023.11: g.(?_67686010)_(67686126_?)del deletion Pathogenic GRCh37 Chromosome X, 66905852: 66905968
35 AR NM_000044.4(AR): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 67545438: 67545438
36 AR NM_000044.4(AR): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 66765280: 66765280
37 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign GRCh38 Chromosome X, 67546564: 67546566
38 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign GRCh37 Chromosome X, 66766406: 66766408
39 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign GRCh38 Chromosome X, 67545318: 67545319
40 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign GRCh37 Chromosome X, 66765160: 66765161
41 AR NM_000044.4(AR) duplication Benign/Likely benign GRCh37 Chromosome X, 66765204: 66765227
42 AR NM_000044.4(AR) duplication Benign/Likely benign GRCh38 Chromosome X, 67545362: 67545385
43 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 66943618: 66943618
44 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 67723776: 67723776
45 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign GRCh37 Chromosome X, 66765213: 66765227
46 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign GRCh38 Chromosome X, 67545371: 67545385
47 AR NM_000044.4(AR): c.1418_1420dup (p.Gly473_Glu474insGly) duplication Benign GRCh37 Chromosome X, 66766406: 66766408
48 AR NM_000044.4(AR): c.1418_1420dup (p.Gly473_Glu474insGly) duplication Benign GRCh38 Chromosome X, 67546564: 67546566
49 AR NM_000044.4(AR): c.1442A> G (p.Tyr481Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 66766430: 66766430
50 AR NM_000044.4(AR): c.1442A> G (p.Tyr481Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 67546588: 67546588
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Expression for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Search GEO for disease gene expression data for Spinal and Bulbar Muscular Atrophy, X-Linked 1.
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Pathways for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Pathways related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 12.94 AR ATXN1 ATXN3 ATXN7 HSP90AA1 HTT
2
Neuroscience 4
12.09 ATXN1 FMR1 HTT SOD1
3
Protein processing in endoplasmic reticulum 37
11.76 ATXN3 DNAJB2 HSP90AA1
4
Development_Glucocorticoid receptor signaling 22
11.05 CREBBP HSP90AA1
5
HSF1-dependent transactivation 66
Show member pathways
 11 CREBBP HSP90AA1
6
Regulation of Androgen receptor activity 1
10.83 AR CREBBP HSP90AA1
7
FOXA1 transcription factor network 1
Show member pathways
 10.46 AR CREBBP SOD1
8
Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics 61
10.16 CREBBP HSP90AA1
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GO Terms for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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Cellular components related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.96 AR ATXN1 ATXN3 ATXN7 DNAJB2 FMR1
2 cytoplasm GO:0005737 9.9 AR ATXN1 ATXN3 ATXN7 CREBBP DNAJB2
3 protein-containing complex GO:0032991 9.73 AR HSP90AA1 HTT SOD1
4 nucleus GO:0005634 9.73 AFF2 AR ATXN1 ATXN3 ATXN7 CREBBP
5 nuclear matrix GO:0016363 9.54 ATXN1 ATXN3 ATXN7
6 axonal growth cone GO:0044295 9.4 FMR1 HSP90AA1
7 nuclear inclusion body GO:0042405 9.32 ATXN1 ATXN3
8 nucleoplasm GO:0005654 9.32 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1

Biological processes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to heat GO:0009408 9.43 HSP90AA1 SOD1
2 protein destabilization GO:0031648 9.4 CREBBP HTT
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.37 AR HTT
4 anterograde axonal transport GO:0008089 9.32 FMR1 SOD1
5 response to antibiotic GO:0046677 9.26 HSP90AA1 SOD1
6 protein refolding GO:0042026 9.16 DNAJB2 HSP90AA1
7 regulation of protein ubiquitination GO:0031396 8.96 DNAJB2 HSP90AA1
8 regulation of cellular response to heat GO:1900034 8.8 CREBBP HSP90AA1 HSPB8

Molecular functions related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 poly(U) RNA binding GO:0008266 9.26 ATXN1 FMR1
2 G-quadruplex RNA binding GO:0002151 9.16 AFF2 FMR1
3 identical protein binding GO:0042802 9.1 ATXN1 FMR1 HSP90AA1 HSPB8 HTT SOD1
4 poly(G) binding GO:0034046 8.96 ATXN1 FMR1
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Sources for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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