dystrophy, myotonic |
Disease ID | 655 |
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Disease | dystrophy, myotonic |
Definition | Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
Synonym | atrophica, myotonia atrophicas, myotonia curschmann-batten-steinert syndrome disease steinerts disease, steinert disease, steinert's dm - dystrophia myotonica dystrophia myotonica dystrophia myotonica 1 dystrophia myotonicas dystrophica, myotonia dystrophicas, myotonia dystrophies, myotonic dystrophy muscular myotonic dystrophy myotonic dystrophy, steinert myotonic muscular dystrophy myotonic myotonia atrophica myotonia atrophicas myotonia dystrophica myotonia dystrophicas myotonic dystrophies myotonic dystrophy myotonic dystrophy 1 myotonic dystrophy [disease/finding] myotonic dystrophy, steinert myotonic musclr dystrphy myotonic muscular dystrophy myotonica, dystrophia myotonicas, dystrophia steinert dis steinert disease steinert myotonic dystrophy steinert myotonic dystrophy syndrome steinert myotonic dystrophy syndrome (disorder) steinert syndrome steinert's disease steinerts dis steinerts disease syndrome steinert |
Orphanet | |
OMIM | |
DOID | |
ICD10 | |
UMLS | C0027126 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:42) C0086543 | cataract | 3 C0851578 | sleep disorders | 2 C0948265 | metabolic syndrome | 2 C0031117 | peripheral neuropathy | 2 C0878544 | cardiomyopathy | 2 C0442874 | neuropathy | 2 C0018799 | cardiac disease | 2 C0011570 | depression | 2 C0040053 | thrombus | 1 C0010036 | corneal dystrophy | 1 C0026846 | muscle atrophy | 1 C0020179 | huntington's disease | 1 C0032290 | aspiration pneumonia | 1 C0086543 | cataracts | 1 C0027868 | neuromuscular disease | 1 C0035229 | respiratory insufficiency | 1 C0027765 | neurological disorder | 1 C0027868 | neuromuscular diseases | 1 C0014859 | esophageal cancer | 1 C0026848 | myopathies | 1 C0009241 | cognitive disorders | 1 C0040100 | thymoma | 1 C0037317 | sleep disturbance | 1 C1142166 | brugada syndrome | 1 C0221060 | moebius syndrome | 1 C0221002 | primary hyperparathyroidism | 1 C0023895 | liver disease | 1 C0037317 | sleep disturbances | 1 C0028754 | adiposity | 1 C0014544 | epilepsy | 1 C0005750 | bacterial overgrowth syndrome | 1 C0007193 | dilated cardiomyopathy | 1 C0020550 | hyperthyroidism | 1 C0018801 | heart failure | 1 C0242350 | erectile dysfunction | 1 C0042075 | urological disorders | 1 C0026848 | muscular diseases | 1 C0027765 | neurological disorders | 1 C0032285 | pneumonia | 1 C0031538 | phimosis | 1 C0152020 | gastroparesis | 1 C0020502 | hyperparathyroidism | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 655 |
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Disease | dystrophy, myotonic |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:26) C0011168 | dysphagia | 3 C0004093 | weakness | 3 C0018799 | cardiac disease | 2 C0796095 | c syndrome | 2 C0031117 | peripheral neuropathy | 2 C0086543 | cataract | 2 C0948265 | metabolic syndrome | 2 C0234958 | muscle degeneration | 2 C0234119 | neuromuscular block | 2 C0020550 | hyperthyroidism | 1 C0035229 | respiratory insufficiency | 1 C0264886 | cardiac conduction defects | 1 C0422833 | ent symptoms | 1 C0242350 | erectile dysfunction | 1 C0267071 | oropharyngeal dysphagia | 1 C0040100 | thymoma | 1 C0162539 | igg deficiency | 1 C0039231 | tachycardia | 1 C0015672 | fatigue | 1 C0206711 | pilomatrixomas | 1 C0020502 | hyperparathyroidism | 1 C0917799 | hypersomnia | 1 C0221002 | primary hyperparathyroidism | 1 C0235394 | wasting | 1 C0011570 | depression | 1 C0023895 | liver disease | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:13) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs17381194 | 21868014 | 27235 | COQ2 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | ATP2B1 | 12 | 89617318 | T | C |
rs17381194 | 21868014 | 1769 | DNAH8 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.001085767 | 2011 | ATP2B1 | 12 | 89617318 | T | C |
rs17381194 | 21868014 | 1760 | DMPK | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.444709793 | 2011 | ATP2B1 | 12 | 89617318 | T | C |
rs17381194 | 21868014 | 490 | ATP2B1 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | ATP2B1 | 12 | 89617318 | T | C |
rs4693570 | 21868014 | 1769 | DNAH8 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.001085767 | 2011 | COQ2 | 4 | 83170698 | T | C |
rs4693570 | 21868014 | 490 | ATP2B1 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | COQ2 | 4 | 83170698 | T | C |
rs4693570 | 21868014 | 1760 | DMPK | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.444709793 | 2011 | COQ2 | 4 | 83170698 | T | C |
rs4693570 | 21868014 | 27235 | COQ2 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | COQ2 | 4 | 83170698 | T | C |
rs672348 | 21868014 | 27235 | COQ2 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | DMPK | 19 | 45781076 | T | G |
rs672348 | 21868014 | 490 | ATP2B1 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.000271442 | 2011 | DMPK | 19 | 45781076 | T | G |
rs672348 | 21868014 | 1769 | DNAH8 | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.001085767 | 2011 | DMPK | 19 | 45781076 | T | G |
rs672348 | 21868014 | 1760 | DMPK | umls:C0027126 | BeFree | Three previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016). | 0.444709793 | 2011 | DMPK | 19 | 45781076 | T | G |
rs786200945 | NA | 1760 | DMPK | umls:C0027126 | CLINVAR | NA | 0.444709793 | NA | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 655 |
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Disease | dystrophy, myotonic |
Case | (Waiting for update.) |