PedAM
Pediatric Disease Annotations & Medicines
| demyelinating polyneuropathy | ||||
| Disease ID | 1199 |
|---|---|
| Disease | demyelinating polyneuropathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0003447 | Axonal loss | 4 HP:0007354 | Amyotrophic lateral sclerosis | 3 HP:0002664 | Neoplasia | 2 HP:0002650 | Scoliosis | 2 HP:0002878 | Respiratory failure | 1 HP:0006597 | Paralyzed diaphragm | 1 HP:0007418 | Alopecia totalis | 1 HP:0001271 | Polyneuropathy | 1 HP:0002608 | Celiac disease | 1 HP:0001394 | Hepatic cirrhosis | 1 HP:0000099 | Glomerular nephritis | 1 HP:0001873 | Low platelet count | 1 HP:0000819 | Diabetes mellitus | 1 HP:0000097 | focal glomerulosclerosis | 1 HP:0002613 | Biliary cirrhosis | 1 HP:0010871 | Ataxia, sensory | 1 HP:0007687 | Unilateral ptosis | 1 HP:0002633 | Vasculitis | 1 HP:0012578 | Membranous glomerulonephritis | 1 HP:0001596 | Hair loss | 1 HP:0002861 | Melanoma | 1 |
| Disease ID | 1199 |
|---|---|
| Disease | demyelinating polyneuropathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0030489 | paraproteinemia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11543022 | 10586260 | 5354 | PLP1 | umls:C0270922 | BeFree | We have found that null mutations of the PLP gene cause demyelinating peripheral neuropathy, whereas duplications and a proline 14 to leucine mutation do not affect nerve function. | 0.000271442 | 1999 | PLP1;LOC101928286 | X | 103785621 | C | G,T |
| rs116840819 | 19369543 | 2705 | GJB1 | umls:C0270922 | BeFree | Transgenic mice with the R75W mutation and all mutant animals with Gjb1-null background developed a progressive demyelinating peripheral neuropathy along with CNS myelination defects. | 0.00434307 | 2009 | GJB1 | X | 71223930 | C | T |
| rs119483085 | 17142040 | 10397 | NDRG1 | umls:C0270922 | BeFree | Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive demyelinating polyneuropathy, associated with deafness exclusively found in Gypsies and resulting from a homozygous R148X mutation in the N-myc downstream-regulated gene 1 (NDRG1). | 0.000542884 | 2007 | NDRG1 | 8 | 133258374 | G | A |
| rs267607538 | 18758688 | 4747 | NEFL | umls:C0270922 | BeFree | An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with demyelinating neuropathy features in CMT1F. | 0.000271442 | 2008 | NEFL | 8 | 24956451 | G | C |
| rs28933385 | 8780103 | 5621 | PRNP | umls:C0270922 | BeFree | We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion protein, in the central and peripheral nervous system of a patient with a Glu200Lys mutation of the prion protein gene, cerebellar ataxia, subcortical dementia, rigidity, and demyelinating peripheral neuropathy. | 0.000271442 | 1996 | PRNP | 20 | 4699818 | G | A |
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.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |