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CFEOM1
MCID: FBR046
MIFTS: 59

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 1

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MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 1:

Name: Fibrosis of Extraocular Muscles, Congenital, 1 57 73 29 13 6 71
Fibrosis of Extraocular Muscles, Congenital, 3b 57 73 29 6 71
Fibrosis 44 17 71
Blepharoptosis with Absent Eye Movements 57 73
Congenital Ophthalmoplegia 73 6
Cfeom1 57 73
Fibrosis, Extraocular Muscles, Congenital, Type 1 39
Congenital Fibrosis of the Extraocular Muscles 71
Ophthalmoplegia, Congenital 57
Feom1 Locus 57
Cfeom3b 73
Feom1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b)


HPO:

31
fibrosis of extraocular muscles, congenital, 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 135700
OMIM Phenotypic Series 57 PS135700
UMLS 71 C0016059 C1302995 C1851102 more
Sources

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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UniProtKB/Swiss-Prot : 73 Fibrosis of extraocular muscles, congenital, 1: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei.
Fibrosis of extraocular muscles, congenital, 3B: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy.

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 1, also known as fibrosis of extraocular muscles, congenital, 3b, is related to tukel syndrome and paralytic squint, and has symptoms including seizures, muscle weakness and polydipsia. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A). The drugs Azithromycin and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and kidney, and related phenotypes are esotropia and exotropia

OMIM® : 57 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008). CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (PHOX2A; 602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position. The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (600638) is caused by mutation in the TUBB3 gene (602661) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (608283) on chromosome 12q12; and CFEOM3C (609384) maps to chromosome 13q. CFEOM4 (609428), also known as Tukel syndrome, maps to chromosome 21q. CFEOM5 (616219) is caused by mutation in the COL25A1 gene (610004) on chromosome 4q25. See also NOMENCLATURE. (135700) (Updated 05-Mar-2021)

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Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

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Diseases in the Fibrosis of Extraocular Muscles, Congenital, 3c family:

Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 5

Diseases related to Fibrosis of Extraocular Muscles, Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2462)
# Related Disease Score Top Affiliating Genes
1 tukel syndrome 31.1 TUBA1A KIF21A
2 paralytic squint 28.8 TUBA1A KIF21A
3 cystic fibrosis 12.0
4 pulmonary fibrosis, idiopathic 11.9
5 pulmonary fibrosis 11.8
6 oral submucous fibrosis 11.6
7 retroperitoneal fibrosis 11.6
8 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.6
9 congenital hepatic fibrosis 11.6
10 coach syndrome 1 11.5
11 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.5
12 nephrogenic systemic fibrosis 11.4
13 renal fibrosis 11.4
14 endomyocardial fibrosis 11.4
15 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 11.4
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.3
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.3
18 hepatic fibrosis, severe due to schistosoma mansoni infection 11.3
19 fibrosclerosis, multifocal 11.3
20 myelofibrosis 11.3
21 systemic scleroderma 11.3
22 fibrosis, neurodegeneration, and cerebral angiomatosis 11.3
23 diffuse pulmonary fibrosis 11.3
24 fibrosis of extraocular muscles, congenital, 5 11.3
25 idiopathic interstitial pneumonia 11.3
26 non-alcoholic fatty liver disease 11.3
27 fatty liver disease 11.3
28 bronchiectasis with or without elevated sweat chloride 1 11.3
29 igg4-related disease 11.3
30 lung disease 11.2
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.2
32 fibrosing mediastinitis 11.2
33 combined pulmonary fibrosis-emphysema syndrome 11.2
34 cystic fibrosis, modifier of, 1 11.2
35 acute interstitial pneumonia 11.2
36 bronchiectasis with or without elevated sweat chloride 2 11.2
37 bronchiectasis with or without elevated sweat chloride 3 11.2
38 congenital disorder of glycosylation, type ib 11.2
39 localized pulmonary fibrosis 11.2
40 scleroderma, familial progressive 11.2
41 vas deferens, congenital bilateral aplasia of 11.2
42 liver cirrhosis 11.2
43 eaf 11.2
44 interstitial lung disease 11.2
45 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.1
46 bronchiectasis 11.1
47 postinflammatory pulmonary fibrosis 11.1
48 hermansky-pudlak syndrome 11.1
49 diabetes mellitus, neonatal, with congenital hypothyroidism 11.1
50 fibrosis of extraocular muscles, congenital, 3c 11.1

Graphical network of the top 20 diseases related to Fibrosis of Extraocular Muscles, Congenital, 1:



Diseases related to Fibrosis of Extraocular Muscles, Congenital, 1
Sources

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, 1

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Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 1:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 esotropia 31 HP:0000565
2 exotropia 31 HP:0000577
3 bilateral ptosis 31 HP:0001488
4 congenital fibrosis of extraocular muscles 31 HP:0001491
5 compensatory chin elevation 31 HP:0001477
6 restrictive external ophthalmoplegia 31 HP:0007936
7 levator palpebrae superioris atrophy 31 HP:0012241
8 superior rectus atrophy 31 HP:0012242
9 sensory exotropia 31 HP:0031721
10 secondary esotropia 31 HP:0031723

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
congenital fibrosis of extraocular muscles
secondary esotropia
ptosis, bilateral
restrictive external ophthalmoplegia, bilateral
bilateral infraducted eye position (downward gaze)
more
Muscle Soft Tissue:
levator palpebrae superioris atrophy
rectus superior atrophy

Head And Neck Head:
compensatory chin elevation

Neurologic Central Nervous System:
absent superior division of oculomotor nerve and corresponding alpha motor neurons

Clinical features from OMIM®:

135700 (Updated 05-Mar-2021)

UMLS symptoms related to Fibrosis of Extraocular Muscles, Congenital, 1:


seizures, muscle weakness, polydipsia, fever, ophthalmoplegia, dyspnea, vertigo, cachexia, headache, syncope, cyanosis, edema, icterus, signs and symptoms, signs and symptoms, digestive, hot flushes
Sources

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 1

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Drugs for Fibrosis of Extraocular Muscles, Congenital, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 807)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 55185 447043
2
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
3
Losartan Approved Phase 4 114798-26-4 3961
4
Metformin Approved Phase 4 657-24-9 14219 4091
5
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
6
Ticarcillin Approved, Investigational, Vet_approved Phase 4 34787-01-4 36921
7
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
8
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
9
Ticagrelor Approved Phase 4 274693-27-5 9871419
10
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
11
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
12
Prazosin Approved Phase 4 19216-56-9 4893
13
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
14
Imipenem Approved Phase 4 64221-86-9, 74431-23-5 104838
15
Insulin glulisine Approved Phase 4 207748-29-6
16
Magnesium oxide Approved Phase 4 1309-48-4 14792
17
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
18
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
19
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
20
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
21
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
22
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
23 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
24
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
25
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
26
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
27
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
28
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
29
Ceftolozane Approved, Investigational Phase 4 689293-68-3
30
Amikacin Approved, Investigational, Vet_approved Phase 4 37517-28-5 37768
31
Aztreonam Approved Phase 4 78110-38-0 5362041 5742832
32
Tamoxifen Approved Phase 4 10540-29-1 2733526
33
Zinc Approved, Investigational Phase 4 7440-66-6 32051
34
Insulin glargine Approved Phase 4 160337-95-1
35
Insulin lispro Approved Phase 4 133107-64-9
36
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
37
Lactitol Approved, Investigational Phase 4 585-86-4 157355
38
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
39
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
40
Avibactam Approved Phase 4 1192500-31-4
41
Telavancin Approved Phase 4 372151-71-8
42
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
43
Fosfomycin Approved Phase 4 23155-02-4 446987
44
Tedizolid Approved, Investigational Phase 4 856866-72-3
45
Tedizolid phosphate Approved Phase 4 856867-55-5
46
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
47
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
48
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
49
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
50
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877

Interventional clinical trials:

(show top 50) (show all 3194)
# Name Status NCT ID Phase Drugs
1 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
2 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
3 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
4 Airway Infection, Inflammatory Markers and Exercise Capacity in Patients With Cystic Fibrosis and at Least One G551D Mutation Taking VX770 (Ivacaftor) Unknown status NCT01937325 Phase 4 ivacaftor;placebo
5 What Duration of Intravenous Antibiotic Therapy Should be Used in the Treatment of Infective Exacerbations of Cystic Fibrosis Chronically Colonised With Pseudomonas Aeruginosa Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
6 Effect of Azithromycin on Lipoproteins and Docosahexaenoic Acid in Patients With Cystic Fibrosis Unknown status NCT03045198 Phase 4 Azithromycin
7 Continuous-infusion Anti-pseudomonal β-lactams for the Treatment of Acute, Infective Pulmonary Exacerbations in Cystic Fibrosis Unknown status NCT01667094 Phase 4 Intermittent, short infusion Ceftazidime;Continuous infusion Ceftazidime;Intermittent, short infusion Meropenem;Continuous infusion Meropenem;Intermittent, short infusion Ticarcillin-clavulanate;Continuous infusion Ticarcillin-clavulanate;Intermittent, short infusion Cefepime;Continuous infusion Cefepime;Continuous infusion Piperacillin tazobactam;Intermittent, short infusion Piperacillin tazobactam
8 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
9 The Employing of the Bio-Hep-B PreS1/PreS2/S Hepatitis B Virus (HBV) Vaccine in New Born Babies From HBV Positive Palestinian Mothers Unknown status NCT01133184 Phase 4
10 A Clinical Evaluation on Traditional Chinese Medicine Diagnosis and Treatment Program Blocking and Reversing Hepatitis B-related Liver Fibrosis - a Randomized, Controlled, Double-blind, Multi-center Clinical Trial Unknown status NCT01965418 Phase 4 Fufang Biejia Ruangan Tablet;Placebo
11 Role of Innate and Adaptive Immunity After Acute Myocardial Infarction BATTLE-AMI Study (B And T Types of Lymphocytes Evaluation in Acute Myocardial Infarction) Unknown status NCT02428374 Phase 4 Rosuvastatin plus clopidogrel;Rosuvastatin plus ticagrelor;Simvastatin plus clopidogrel;Simvastatin plus ticagrelor
12 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
13 A Randomised, Double-Blinded, Placebo-Controlled Trial Using Cardiovascular Magnetic Resonance (CMR) Scanning to Assess Remodelling and Regression of Fibrosis in Cardiomyopathy With Eplerenone Unknown status NCT00401856 Phase 4 Eplerenone;Placebo
14 Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis: a Double-blind Randomised Controlled Trial Unknown status NCT02507843 Phase 4 Cholecalciferol;Placebo
15 Effect of Advagraf on Arterial Stiffness and on Vascular Fibrosis Plasma Markers on de Novo Renal Transplant Patients Unknown status NCT02154854 Phase 4 Tacrolimus targeted half-dose;Tacrolimus targeted plain dose
16 Improved Exercise Tolerance in Participants With PReserved Ejection Fraction by Spironolactone on Myocardial Fibrosis in Atrial Fibrillation Unknown status NCT02673463 Phase 4 Spironolactone;Placebo
17 Ramipril Treatment of Claudication: Oxidative Damage and Muscle Fibrosis Unknown status NCT02842424 Phase 4 Ramipril
18 A Multi-Center Study to Assess the Efficacy and Safety of Traditional Chinese Medicine Combined With Entecavir for Patients With Refractory Liver Fibrosis in Liver Cirrhosis Due to HBV Unknown status NCT02241616 Phase 4 Entecavir+Fuzheng Huayu+TCM Granule
19 Randomized Study Comparing Switching to Raltegravir-based Antiretroviral Versus Maintaining Any Other Antiretroviral Therapy in HIV Monoinfected Patients Impact on Fatty Liver and Liver Fibrosis Assessed by Noninvasive Diagnostic Methods Unknown status NCT02210715 Phase 4 Isentress.
20 Effects of SGLT-2 Inhibition With Dapagliflozin on Myocardial Fibrosis and Inflammation as Assessed by Cardiac MRI With T1- and T2-mapping in Patients With Type-2 Diabetes Unknown status NCT03782259 Phase 4 dapagliflozin
21 Interstitial Fibrosis in Protocol Biopsies of Renal Allografts: A Prospective, Randomised Trial of Sirolimus Versus Cyclosporine.(Fibrasic) Unknown status NCT00493194 Phase 4 sirolimus;cyclosporine;daclizumab
22 Randomized and Controlled Study of Endoscopic Ligation, Nadolol and Isosorbide Mononitrate vs Endoscopic Ligation and Nadolol Alone, or Associated With Isosorbide Mononitrate or Prazosin, Depending of the Hemodinamyc Response Unknown status NCT00563602 Phase 4
23 Losartan in the Prevention of Sodium Retention and Ascites in Liver Cirrhosis - a Prospective Randomized Long-Term Study Unknown status NCT00239096 Phase 4 losartan (drug)
24 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
25 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
26 Prevention of Progression of Portal Hypertension in Compensated Cirrhosis Using Selective Hepatic Vasodilators. A Double-blind, Multicenter,Randomized Controlled Trial Unknown status NCT01282398 Phase 4 Simvastatin;placebo
27 Hemodynamic Effect of the Combination of Simvastatin With Non-cardioselective Beta Blockers in Patients With Cirrhosis and Clinically Significant Portal Hypertension Unknown status NCT01282385 Phase 4 Simvastatin;placebo
28 Bacterial Infections Associated With Healthcare (Healthcare-Associated) in Hospitalized Cirrhotic Patients: Randomized Study of Use of Traditional Empirical Antibiotic Therapy and Second-line Targeted at Multi-resistant Bacteria Unknown status NCT01820026 Phase 4 Imipenem;Vancomycin;azithromycin;Cefotaxime;Amoxicillin
29 Clinical Study of Telbivudine on Liver Cirrhosis in Patients With Chronic Hepatitis B Unknown status NCT01380951 Phase 4 telbivudine
30 Insulin Therapy in the Inpatient Management of Cirrhotic Patients With Type 2 Diabetes Unknown status NCT01143948 Phase 4 Glargine & Glulisine;Regular insulin;NPH & regular insulin
31 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
32 A Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis Unknown status NCT00761098 Phase 4 Standard Care;Experimental
33 Rifaximin Predicts the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial Unknown status NCT02074280 Phase 4 rifaximin
34 Effect of Betablocker or Aldosterone Antagonist Therapy on Oxygenation, Peripheral and Cardiac Hemodynamics and Humoral Systems Unknown status NCT00332904 Phase 4 propranolol;spironolactone
35 The Effect of HVPG-Guided Individualized Therapy in Patients With Cirrhosis Related Esophagogastric Variceal Hemorrhage For Secondary Prophylaxis:A Randomized Controlled Trial Unknown status NCT02638415 Phase 4 Carvedilol
36 Entecavir for Patients With Decompensated HBV-Related Cirrhosis:a Prospective Randomized Controlled Trial Unknown status NCT00663182 Phase 4 Entecavir
37 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
38 The Effect of Carvedilol Vs Propranolol in Patients With Cirrhosis Related Esophagogastric Varices After Multiple Endoscopic Treatments For Secondary Prophylaxis:A Randomized Controlled Trial Unknown status NCT02385422 Phase 4 Carvedilol;Propranolol
39 Telbivudine Renoprotective Effect in Patients With HBV-related Liver Cirrhosis Unknown status NCT01693679 Phase 4 Telbivudine, Lamivudine, Adefovir ,Enecavir
40 Effect of Vardenafil on Erectile Dysfunction and Portal Hemodynamics in Patients With Liver Cirrhosis Unknown status NCT02344823 Phase 4 Vardenafil;Placebo intake once daily
41 Propofol and Fentanyl Versus Midazolam and Fentanyl for Sedation During Diagnostic or Therapeutic Gastrointestinal Endoscopy in Cirrhotic Patients Unknown status NCT00906139 Phase 4 Propofol;Midazolam;Fentanyl
42 Magnesium Deficiency in Cirrhotic Patients Unknown status NCT01894867 Phase 4
43 Rifaximin Reduces the Complications of Decompensated Cirrhosis Unknown status NCT02190357 Phase 4 Rifaximin
44 A Prospective Randomized Controlled Trial of Efficacy and Safety of Anticoagulant Therapy With Low Molecular Weight Heparin and Warfarin in Portal Vein Thrombosis of Liver Cirrhosis Unknown status NCT04173429 Phase 4 Low molecular weight heparin (LMWH), warfarin
45 Emtricitabine Plus Adefovir Dipivoxil for Naive Chinese HBV Related Cirrhosis Patients Unknown status NCT02327689 Phase 4 Emtricitabine plus adefovir dipivoxil
46 A Randomized, Placebo-Controlled, Double-Blind, Multi-Center Study to Assess the Efficacy and Safety of Fuzheng Huayu Combined With Entecavir in Liver Cirrhosis Patients Due to Hepatitis B Virus Unknown status NCT02241590 Phase 4 Entecavir + Placebo;Entecavir + Fuzheng Huayu Tablet
47 A Randomised Trial Comparing Entacavir and Tenofovir in Patients With HBV Decompensated Cirrhosis Unknown status NCT02238860 Phase 4 Entacavir;Tenofovir
48 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
49 Branched-chain Amino Acid (BCAA) on Progression of Advanced Liver Disease (BRAVE): Korean Nation-wide Multicenter Retrospective and Prospective Observational Cohort Study Unknown status NCT02837302 Phase 4 Livact
50 Efficacy and Safety of Early Administration of Tranexamic Acid in Cirrhotic Patients Presenting With Acute Upper Gastrointestinal Bleeding: a Multicenter, Randomized, Double Blind, Placebo-controlled Trial (Modified by amendment1) Unknown status NCT03023189 Phase 4 Tranexamic acid;Placebo

Search NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 1

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Potassium aminobenzoate

Cochrane evidence based reviews: fibrosis

Sources

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 1:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 3b 29
2 Fibrosis of Extraocular Muscles, Congenital, 1 29 KIF21A
Sources

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 1:

40
Liver, Lung, Kidney, Bone, Heart, Bone Marrow, Endothelial
Sources

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Articles related to Fibrosis of Extraocular Muscles, Congenital, 1:

(show top 50) (show all 30022)
# Title Authors PMID Year
1
KIF21A variant R954W in familial or sporadic cases of CFEOM1. 57 6
19551685 2009
2
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 6 57
18332320 2008
3
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 6 57
15827546 2005
4
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 57 6
15621876 2004
5
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. 6 57
15621877 2004
6
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 6 57
15223798 2004
7
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 57 6
14595441 2003
8
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. 57 6
10922204 2000
9
Congenital fibrosis of the extraocular muscles. 57
18214786 2008
10
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. 57
17551929 2007
11
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. 57
15671279 2005
12
Elevation of one eye during tooth brushing. 57
12208268 2002
13
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. 57
12073023 2002
14
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 57
11882252 2002
15
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). 57
9863593 1998
16
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. 57
9797671 1998
17
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. 57
9066352 1997
18
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. 57
7485159 1995
19
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. 57
8075644 1994
20
Generalized fibrosis of the extraocular muscles. 57
677209 1978
21
Congenital general fibrosis of the extraocular muscles. 57
5755737 1968
22
Congenital fibrosis of the extraocular muscles; a report of six cases. 57
13302348 1956
23
Ginsenoside Rg2 alleviates myocardial fibrosis by regulating TGF-β1/Smad signalling pathway. 61
33535854 2021
24
Analysis of structural components of decellularized scaffolds in renal fibrosis. 61
33511316 2021
25
Diagnostic Efficacy of Serum Mac-2 Binding Protein Glycosylation Isomer and Other Markers for Liver Fibrosis in Non-Alcoholic Fatty Liver Diseases. 61
33303715 2021
26
Taohong siwu decoction attenuates myocardial fibrosis by inhibiting fibrosis proliferation and collagen deposition via TGFBR1 signaling pathway. 61
33460756 2021
27
Inhibitory effects of alkaline extract from the pericarp of Citrus reticulata Blanco on collagen behavior in bleomycin-induced pulmonary fibrosis. 61
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28
Quantitative magnetization transfer imaging for non-contrast enhanced detection of myocardial fibrosis. 61
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Hepatic Elastometry and Glissonian Line in the Assessment of Liver Fibrosis. 61
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30
Feasibility study on exhaled-breath analysis by untargeted Selected-Ion Flow-Tube Mass Spectrometry in children with cystic fibrosis, asthma, and healthy controls: Comparison of data pretreatment and classification techniques. 61
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Depletion of serotonin relieves concanavalin A-induced liver fibrosis in mice by inhibiting inflammation, oxidative stress, and TGF-β1/Smads signaling pathway. 61
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32
Diabetic fibrosis. 61
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33
Functional interaction between macrophages and hepatocytes dictate the outcome of liver fibrosis. 61
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34
Diaphragmatic Ultrasound in Non-Cystic Fibrosis Bronchiectasis: Relationship to Clinical Parameters. 61
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35
Cystic fibrosis F508del carriers and cancer risk: Results from the UK Biobank. 61
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Utilizing Fibrosis-4 score to assess risk for hepatic fibrosis in patients with psoriasis on methotrexate. 61
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37
Astragaloside IV alleviates silica‑induced pulmonary fibrosis via inactivation of the TGF‑β1/Smad2/3 signaling pathway. 61
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Long non‑coding RNA NEAT1 promotes pulmonary fibrosis by regulating the microRNA‑455‑3p/SMAD3 axis. 61
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Comparison of 2-D Shear Wave Elastography and Point Shear Wave Elastography for Assessing Liver Fibrosis. 61
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Implications of Inflammation and Fibrosis in Atrial Fibrillation Pathophysiology. 61
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Surgical Release of Gluteal Fibrosis in Children Results in Sustained Benefit at 5-Year Follow-up. 61
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The Diagnosis and Treatment of Pulmonary Fibrosis. 61
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Whole-liver histogram and texture analysis on T1 maps improves the risk stratification of advanced fibrosis in NAFLD. 61
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Validation of highly selective sphingosine kinase 2 inhibitors SLM6031434 and HWG-35D as effective anti-fibrotic treatment options in a mouse model of tubulointerstitial fibrosis. 61
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Development and validation of a noninvasive clinical scoring system to predict significant fibrosis in patients with nonalcoholic fatty liver disease. 61
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IOX1 protects from TGF-β induced fibrosis in LX-2 cells via the regulation of extracellular matrix protein expression. 61
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Effect of long non‑coding RNA AK021443 on promoting hepatic fibrosis in vitro. 61
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Pharmacological effects of indole alkaloids from Alstonia scholaris (L.) R. Br. on pulmonary fibrosis in vivo. 61
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Refinement and Validation of the Head and Neck Lymphedema and Fibrosis Symptom Inventory. 61
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Administration of TGF-ß Inhibitor Mitigates Radiation-induced Fibrosis in a Mouse Model. 61
33252888 2021
Sources

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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ClinVar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF21A NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) SNV Pathogenic 2442 rs267607200 12:39726408-39726408 12:39332606-39332606
2 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) SNV Pathogenic 2437 rs121912586 12:39726206-39726206 12:39332404-39332404
3 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) SNV Pathogenic 2437 rs121912586 12:39726206-39726206 12:39332404-39332404
4 KIF21A NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) SNV Pathogenic 2438 rs121912587 12:39726038-39726038 12:39332236-39332236
5 KIF21A NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) SNV Pathogenic 2440 rs121912589 12:39726410-39726410 12:39332608-39332608
6 KIF21A NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) SNV Pathogenic 2441 rs121912590 12:39726409-39726409 12:39332607-39332607
7 TUBA1A NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) SNV Pathogenic 988578 12:49578933-49578933 12:49185150-49185150
8 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) SNV Pathogenic 2436 rs121912585 12:39726207-39726207 12:39332405-39332405
9 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) SNV Pathogenic 2436 rs121912585 12:39726207-39726207 12:39332405-39332405
10 KIF21A NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) SNV Pathogenic 2439 rs121912588 12:39752128-39752128 12:39358326-39358326
11 KIF21A NM_001173464.2(KIF21A):c.84C>G (p.Cys28Trp) SNV Pathogenic 219258 rs864321718 12:39764024-39764024 12:39370222-39370222
12 TUBA1A NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) SNV Likely pathogenic 988579 12:49579682-49579682 12:49185899-49185899
13 TUBA1A NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) SNV Likely pathogenic 988580 12:49578956-49578956 12:49185173-49185173
14 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 MT:3275-3275 MT:3275-3275
15 KIF21A NM_017641.3(KIF21A):c.-335C>G SNV Uncertain significance 308604 rs886049351 12:39837107-39837107 12:39443305-39443305
16 KIF21A NM_001173464.2(KIF21A):c.*690dup Duplication Uncertain significance 308533 rs34373131 12:39687535-39687536 12:39293733-39293734
17 KIF21A NM_001173464.2(KIF21A):c.*845dup Duplication Uncertain significance 308530 rs886049334 12:39687380-39687381 12:39293578-39293579
18 KIF21A NM_001173464.2(KIF21A):c.681T>C (p.His227=) SNV Uncertain significance 881093 12:39760886-39760886 12:39367084-39367084
19 KIF21A NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) SNV Uncertain significance 881506 12:39726894-39726894 12:39333092-39333092
20 KIF21A NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) SNV Uncertain significance 881507 12:39726905-39726905 12:39333103-39333103
21 KIF21A NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) SNV Uncertain significance 881558 12:39763911-39763911 12:39370109-39370109
22 KIF21A NM_001173464.2(KIF21A):c.44+15C>G SNV Uncertain significance 881559 12:39836714-39836714 12:39442912-39442912
23 KIF21A NM_001173464.2(KIF21A):c.44+5G>A SNV Uncertain significance 881560 12:39836724-39836724 12:39442922-39442922
24 KIF21A NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) SNV Uncertain significance 882353 12:39695399-39695399 12:39301597-39301597
25 KIF21A NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) SNV Uncertain significance 882624 12:39703397-39703397 12:39309595-39309595
26 KIF21A NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) SNV Uncertain significance 882626 12:39709766-39709766 12:39315964-39315964
27 KIF21A NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) SNV Uncertain significance 882671 12:39735329-39735329 12:39341527-39341527
28 KIF21A NM_001173464.2(KIF21A):c.*582G>A SNV Uncertain significance 883358 12:39687644-39687644 12:39293842-39293842
29 KIF21A NM_001173464.2(KIF21A):c.*531T>C SNV Uncertain significance 883359 12:39687695-39687695 12:39293893-39293893
30 KIF21A NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) SNV Uncertain significance 883448 12:39751176-39751176 12:39357374-39357374
31 KIF21A NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) Duplication Uncertain significance 632188 rs1565724702 12:39711895-39711896 12:39318093-39318094
32 KIF21A NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) Insertion Uncertain significance 632189 rs1565724893 12:39711905-39711906 12:39318103-39318104
33 KIF21A NM_017641.3(KIF21A):c.-392G>C SNV Uncertain significance 308607 rs886049354 12:39837164-39837164 12:39443362-39443362
34 KIF21A NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) SNV Uncertain significance 883401 12:39716587-39716587 12:39322785-39322785
35 KIF21A NM_017641.3(KIF21A):c.-245C>T SNV Uncertain significance 308602 rs886049350 12:39837017-39837017 12:39443215-39443215
36 KIF21A NM_017641.3(KIF21A):c.-339C>A SNV Uncertain significance 308605 rs886049352 12:39837111-39837111 12:39443309-39443309
37 KIF21A NM_017641.3(KIF21A):c.-203C>G SNV Uncertain significance 308600 rs886049349 12:39836975-39836975 12:39443173-39443173
38 KIF21A NM_017641.3(KIF21A):c.-345G>A SNV Uncertain significance 308606 rs886049353 12:39837117-39837117 12:39443315-39443315
39 KIF21A NM_001173464.2(KIF21A):c.2418+2T>C SNV Uncertain significance 632190 rs1565839016 12:39730896-39730896 12:39337094-39337094
40 KIF21A NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) SNV Uncertain significance 308567 rs886049344 12:39726505-39726505 12:39332703-39332703
41 KIF21A NM_001173464.2(KIF21A):c.-146G>A SNV Uncertain significance 308596 rs886049347 12:39836918-39836918 12:39443116-39443116
42 KIF21A NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) SNV Uncertain significance 308550 rs886049340 12:39698655-39698655 12:39304853-39304853
43 KIF21A NM_001173464.2(KIF21A):c.*326T>A SNV Uncertain significance 308541 rs886049337 12:39687900-39687900 12:39294098-39294098
44 KIF21A NM_001173464.2(KIF21A):c.*1022A>T SNV Uncertain significance 308527 rs886049331 12:39687204-39687204 12:39293402-39293402
45 KIF21A NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) SNV Uncertain significance 308553 rs886049341 12:39703401-39703401 12:39309599-39309599
46 KIF21A NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) SNV Uncertain significance 308556 rs886049342 12:39711911-39711911 12:39318109-39318109
47 KIF21A NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) SNV Uncertain significance 308565 rs886049343 12:39726451-39726451 12:39332649-39332649
48 KIF21A NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) SNV Uncertain significance 308545 rs886049339 12:39695322-39695322 12:39301520-39301520
49 KIF21A NM_001173464.2(KIF21A):c.268-14G>T SNV Uncertain significance 308591 rs762377796 12:39763727-39763727 12:39369925-39369925
50 KIF21A NM_001173464.2(KIF21A):c.*1010T>C SNV Uncertain significance 308528 rs886049332 12:39687216-39687216 12:39293414-39293414

UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 KIF21A p.Met356Thr VAR_019399 rs121912588
2 KIF21A p.Met947Arg VAR_019400 rs121912590
3 KIF21A p.Met947Val VAR_019401 rs121912589
4 KIF21A p.Arg954Gln VAR_019402 rs121912586
5 KIF21A p.Arg954Trp VAR_019403 rs121912585
6 KIF21A p.Ile1010Thr VAR_019404 rs121912587
7 KIF21A p.Met947Thr VAR_027021
8 KIF21A p.Asp352Glu VAR_074031
9 KIF21A p.Glu944Gln VAR_074032
10 KIF21A p.Arg954Leu VAR_074033
11 KIF21A p.Ala1008Pro VAR_074034

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Expression for Fibrosis of Extraocular Muscles, Congenital, 1

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Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 1.
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Pathways for Fibrosis of Extraocular Muscles, Congenital, 1

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GO Terms for Fibrosis of Extraocular Muscles, Congenital, 1

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Cellular components related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 TUBA1A KIF21A
2 microtubule GO:0005874 8.62 TUBA1A KIF21A
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Sources for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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