OPMD
MCID: OCL008
MIFTS: 63

Oculopharyngeal Muscular Dystrophy (OPMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Oculopharyngeal Muscular Dystrophy

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.

MalaCards: Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to dysphagia and myopathy, and has symptoms including anomaly of the pharynx/pharyngeal anomaly, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and expressionless face/amimia. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (poly(A) binding protein, nuclear 1), and among its related pathways are Translational Control and mRNA Splicing - Major Pathway. The compounds thioflavine s and ladostigil have been mentioned in the context of this disorder. Affiliated tissues include eye, hypothalamus and skeletal muscle.

NIH Rare Diseases:44 Oculopharyngeal muscular dystrophy (opmd) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. this condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. there are two types of opmd, which are distinguished by their patterns of inheritance. they are known as the autosomal dominant and autosomal recessive types. both types are caused by mutations in the pabpn1 gene. last updated: 5/2/2012

Wikipedia:66 Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominantneuromuscular disease or autosomal... more...

Description from OMIM:48 164300

GeneReviews summary for opmd

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 50Orphanet, 21GeneTests, 23GTR, 63UMLS, 46Novoseek, 36MeSH, 41NCIt, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

oculopharyngeal muscular dystrophy 9 10 20 44 22 48 50
muscular dystrophy, oculopharyngeal 9 44 21 23 22 63
opmd 20 44 22 50
progressive muscular dystrophy, oculopharyngeal type 22
muscular dystrophy oculopharyngeal 46
oculopharyngeal dystrophy 22


External Ids:

Disease Ontology9 DOID:11719
OMIM48 164300
MeSH36 D039141
NCIt41 C84942
SNOMED-CT59 77097004
MESH via Orphanet37 D039141
ICD10 via Orphanet27 G71.0
SNOMED-CT via Orphanet60 77097004
UMLS via Orphanet64 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

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18GeneCards, 19GeneDecks
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Diseases related to Oculopharyngeal Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1dysphagia31.4PABPN1
2myopathy31.0APP, PABPN1, MYH7, MYOD1, RPS27A
3inclusion body myositis31.0APP
4myositis30.9RPS27A, MYOD1, APP
5dementia30.4RPS27A, APP, HSPA4
6muscular dystrophy11.4
7esophagitis10.6
8pharyngitis10.5
9oculopharyngodistal myopathy10.5
10neuropathy10.4
11obstructive sleep apnea10.3
12neuronitis10.3
13muscular atrophy10.3
14arachnoiditis10.3
15meningitis10.3
16myasthenia gravis10.3
17ophthalmoplegia10.3
18peripheral neuropathy10.3
19sleep apnea10.3
20hereditary neuropathy with liability to pressure palsies10.3
21arachnoid cysts10.3
22hereditary neuropathy with liability to pressure palsy10.3
23tuberculous meningitis10.3
24hereditary neuropathies10.3
25swallowing disorders10.3
26rhabdoid tumor10.1MYOD1
27huntington's disease10.1TGM2
28spinocerebellar degeneration10.1CHERP, RPS27A
29spinocerebellar ataxia type 310.1RPS27A, CHERP
30myopathy congenital10.1MYH7, RPS27A
31spinocerebellar ataxia type 710.1CHERP, HSPA4
32transient cerebral ischemia10.1HSPA4, RPS27A
33spinocerebellar ataxia10.1RPS27A, CHERP
34frontotemporal dementia10.1RPS27A, APP
35neuroaxonal dystrophy, infantile10.1RPS27A, APP
36hemorrhage, intracerebral10.0APP, RPS27A
37progressive supranuclear palsy10.0APP, RPS27A
38lewy body dementia10.0RPS27A, APP
39tauopathy10.0RPS27A, APP
40cataract10.0RPS27A, TGM2, HSPA4
41creutzfeldt-jakob disease10.0APP, RPS27A
42vascular dementia10.0APP, TGM2, RPS27A
43amyotrophic lateral sclerosis10.0APP, TGM2, RPS27A
44amyloid tumor10.0APP, RPS27A
45pick's disease10.0RPS27A, APP
46parkinson's disease10.0APP, TGM2, CHERP, RPS27A
47brain ischemia10.0HSPA4, APP
48cervical cancer10.0HSPA4, RPS27A, BCL2
49retinoblastoma9.9SMARCA4, MYH7, MYOD1, SNW1, RPS27A, BCL2
50lung cancer9.9SMARCA4, TGM2, BCL2, HNRNPC, HNRNPA2B1

Graphical network of the top 20 diseases related to Oculopharyngeal Muscular Dystrophy:



Diseases related to oculopharyngeal muscular dystrophy

Symptoms for Oculopharyngeal Muscular Dystrophy

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

164300

Clinical features from OMIM:

164300

Symptoms:

50 (show all 9)
  • anomaly of the pharynx/pharyngeal anomaly
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • expressionless face/amimia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myopathy
  • autosomal dominant inheritance
  • ptosis
  • autosomal recessive inheritance

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Oculopharyngeal Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Oculopharyngeal Muscular Dystrophy

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

Search CenterWatch for Oculopharyngeal Muscular Dystrophy

Genetic Tests for Oculopharyngeal Muscular Dystrophy

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21GeneTests, 23GTR
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Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy21 23 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

34
Eye, Hypothalamus, Skeletal muscle, Smooth muscle, Testes

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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Publications for Oculopharyngeal Muscular Dystrophy

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53PubMed
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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
2
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. (24310666)
2013
3
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. (23453859)
2013
4
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. (23815790)
2013
5
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. (21602480)
2012
6
Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature. (22817818)
2012
7
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. (21854744)
2011
8
Oculopharyngeal muscular dystrophy associated with dementia. (22001477)
2011
9
Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy. (21204267)
2011
10
Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy. (20181517)
2010
11
Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy. (20519718)
2010
12
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. (19175930)
2009
13
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
14
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
15
Variability of the recessive oculopharyngeal muscular dystrophy phenotype. (17206657)
2007
16
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. (17110089)
2007
17
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. (16619122)
2006
18
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy. (16481821)
2006
19
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. (16530457)
2006
20
Animal model of oculopharyngeal muscular dystrophy. (16550922)
2005
21
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. (16101680)
2005
22
A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene]. (16022469)
2005
23
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. (14976164)
2004
24
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
25
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. (12944420)
2003
26
Proximal weakness and exercise-induced pain as initial symptom of oculopharyngeal muscular dystrophy]. (11519209)
2001
27
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. (11595511)
2001
28
Oculopharyngeal muscular dystrophy: clinical and CT findings. (11679216)
2001
29
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. (10680791)
2000
30
Oculopharyngeal muscular dystrophy. (10711989)
1999
31
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
32
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (9462747)
1998
33
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
34
A case of oculopharyngeal muscular dystrophy in a Bulgarian Jew. (8409167)
1993
35
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. (8387769)
1993
36
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
37
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
38
Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. (2553230)
1989
39
Chronic cough as the presenting symptom of oculopharyngeal muscular dystrophy. (2924627)
1989
40
Inferior constrictor myotomy in oculopharyngeal muscular dystrophy: clinical and manometric evaluation. (3385870)
1988
41
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (3007900)
1986
42
Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly. (3944405)
1986
43
Premortem examination of the cricopharyngeus muscle in oculopharyngeal muscular dystrophy: inflammatory cells and tubular aggregates--case report. (3935975)
1985
44
Familial late onset oculopharyngeal muscular dystrophy. (7279823)
1981
45
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
46
Creatine phosphokinase MB band in oculopharyngeal muscular dystrophy. (450000)
1979
47
Oropharyngeal dysphagia in patients with oculopharyngeal muscular dystrophy. (679079)
1978
48
Oculopharyngeal muscular dystrophy with tuberculous meningitis (a case report). (721245)
1978
49
Oculopharyngeal muscular dystrophy treated by inferior constrictor myotomy. (5097831)
1971
50
Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids. (13997067)
1962

Variations for Oculopharyngeal Muscular Dystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1PABPN1PABPN1, (GCG)n EXPANSION, (GCG)7NT expansionPathogenic/card/oculopharyngeal_muscular_dystrophy
2NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala)single nucleotide variantPathogenicrs104894466GRCh37Chr 14, 23790713: 23790713

Expression for genes affiliated with Oculopharyngeal Muscular Dystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculopharyngeal Muscular Dystrophy

Search GEO for disease gene expression data for Oculopharyngeal Muscular Dystrophy.

Pathways for genes affiliated with Oculopharyngeal Muscular Dystrophy

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51PathCards, 5Cell Signaling Technology, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2HNRNPA1, HNRNPC, SMARCA4
2
Show member pathways
9.0PABPN1, HNRNPC, HNRNPA1, HNRNPA2B1
38.4HNRNPA1, HNRNPC, SNW1, CHERP
4
Show member pathways
8.2PABPN1, SNW1, RPS27A, HNRNPC, HNRNPA1, HNRNPA2B1

Compounds for genes affiliated with Oculopharyngeal Muscular Dystrophy

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46Novoseek, 12DrugBank, 25HMDB, 3BitterDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1thioflavine s4610.4RPS27A, APP
2ladostigil4610.3BCL2, APP
3rasagiline46 1211.2APP, BCL2
4sulindac sulfide4610.1APP, BCL2
5thymidylate4610.0APP, RPS27A, BCL2
6bryostatin 14610.0RPS27A, BCL2
7valine469.9RPS27A, MYH7, APP
8rotenone469.9HSPA4, RPS27A, BCL2
94-hydroxynonenal46 2510.8HSPA4, APP, RPS27A
10chloroquine46 3 52 30 1213.8RPS27A, APP, HSPA4
113-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.8HSPA4, APP, BCL2
12adpribose469.8BCL2, RPS27A, HSPA4
13iodoacetamide469.8HSPA4, TGM2
14ibuprofen46 30 52 25 1213.8HSPA4, APP, BCL2
15c2ceramide469.8BCL2, APP, HSPA4
16camptothecin46 62 1211.7BCL2, RPS27A, HSPA4
17isoproterenol46 1210.7HSPA4, APP, MYH7
18geldanamycin46 52 62 1212.7HSPA4, MYOD1, RPS27A
19arsenite46 2510.6BCL2, RPS27A, HSPA4
20curcumin469.6BCL2, RPS27A, APP, HSPA4
21lysine469.6SMARCA4, TGM2, MYOD1, RPS27A
22thapsigargin46 6210.6HSPA4, APP, TGM2, BCL2
23doxorubicin46 52 1211.6BCL2, RPS27A, TGM2, HSPA4
24bromodeoxyuridine469.6MYOD1, MYH7, HSPA4
25aspirin46 52 30 2512.5RPS27A, APP, HSPA4
26mg 13246 6210.5HSPA4, MYOD1, RPS27A, BCL2
27glycerol46 25 1211.4RPS27A, MYH7, HSPA4
28acetylcholine46 52 30 25 1213.4HSPA4, APP, MYOD1, RPS27A
29guanine46 25 1211.4MYH7, MYOD1, RPS27A
30paraffin469.4BCL2, RPS27A, MYOD1, HSPA4
31glutamate469.3HSPA4, APP, TGM2, MYH7, RPS27A
32cysteine469.3SMARCA4, APP, TGM2, MYH7, MYOD1, RPS27A
33lactacystin469.2HSPA4, APP, MYOD1, RPS27A, BCL2
34butyrate469.2HSPA4, APP, MYOD1, RPS27A, BCL2
35actinomycin d469.2HSPA4, APP, MYOD1, RPS27A, BCL2
36creatinine469.1HSPA4, APP, PABPN1, MYH7, MYOD1, RPS27A
37vegf469.1HSPA4, APP, MYOD1, RPS27A, BCL2
38alanine469.1HSPA4, APP, TGM2, PABPN1, MYOD1, RPS27A
39atp46 3010.0SMARCA4, HSPA4, TGM2, MYH7, MYOD1, RPS27A
40retinoic acid46 2510.0HSPA4, APP, TGM2, MYOD1, RPS27A, BCL2
41glutamine468.9RPS27A, CHERP, MYH7, PABPN1, TGM2, APP
42testosterone46 62 25 1211.9SMARCA4, HSPA4, APP, MYOD1, CHERP, RPS27A
43adenylate468.9HSPA4, APP, PABPN1, RPS27A, HNRNPC
44h2o2468.7HSPA4, APP, RPS27A, BCL2, HNRNPC
45serine468.7HSPA4, APP, TGM2, MYH7, MYOD1, RPS27A
46arginine468.6SMARCA4, APP, PABPN1, MYH7, MYOD1, RPS27A

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

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17Gene Ontology
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Cellular components related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:0305299.7PABPN1, HNRNPA1, HNRNPA2B1
2catalytic step 2 spliceosomeGO:0710138.7HNRNPA2B1, HNRNPA1, HNRNPC, SNW1
3spliceosomal complexGO:0056818.7SNW1, HNRNPC, HNRNPA1, HNRNPA2B1
4nucleolusGO:0057308.0MYH7, DNAJB4, SNW1, HNRNPC, HNRNPA1, SMARCA4
5nucleoplasmGO:0056547.8PABPN1, MYOD1, SNW1, RPS27A, HNRNPC, HNRNPA1
6cytoplasmGO:0057377.6USP4, APP, PABPN1, MYH7, CHERP, DNAJB4
7extracellular vesicular exosomeGO:0700627.5HSPA4, APP, TGM2, DNAJA1, RPS27A, PCOLCE
8nucleusGO:0056346.6SMARCA4, USP4, PABPN1, MYH7, MYOD1, DNAJB4

Biological processes related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.9APP, RPS27A, BCL2
2regulation of protein stabilityGO:0316479.7BCL2, USP4
3positive regulation by host of viral transcriptionGO:0439239.7SNW1, SMARCA4
4negative regulation of G1/S transition of mitotic cell cycleGO:20001349.6BCL2, SMARCA4
5Notch signaling pathwayGO:0072199.3RPS27A, SNW1, APP
6response to unfolded proteinGO:0069869.2DNAJB4, DNAJA1, HSPA4
7RNA splicingGO:0083809.1PABPN1, HNRNPC, HNRNPA1, HNRNPA2B1
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.7SMARCA4, APP, MYOD1, SNW1, RPS27A
9mRNA splicing, via spliceosomeGO:0003988.6HNRNPA2B1, HNRNPA1, HNRNPC, SNW1, PABPN1
10gene expressionGO:0104678.4PABPN1, SNW1, RPS27A, HNRNPC, HNRNPA1, HNRNPA2B1

Molecular functions related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptidase activator activityGO:01650410.0PCOLCE, APP
2nuclear hormone receptor bindingGO:0352579.3MYOD1, SNW1
3nucleotide bindingGO:0001669.0PABPN1, HNRNPC, HNRNPA1, HNRNPA2B1
4RNA bindingGO:0037238.7HNRNPA2B1, HNRNPA1, HNRNPC, PABPN1
5identical protein bindingGO:0428028.6HNRNPC, BCL2, APP, USP4
6poly(A) RNA bindingGO:0448227.9PABPN1, CHERP, SNW1, RPS27A, HNRNPC, HNRNPA1
7protein bindingGO:0055154.9HNRNPA2B1, SMARCA4, USP4, APP, TGM2, PABPN1

Products for genes affiliated with Oculopharyngeal Muscular Dystrophy

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Sources for Oculopharyngeal Muscular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet