charcot-marie-tooth disease type 1b |
Disease ID | 1425 |
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Disease | charcot-marie-tooth disease type 1b |
Definition | Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy. |
Synonym | charcot marie tooth disease, type 1b charcot marie tooth disease, type ib charcot marie tooth neuropathy, type 1b charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b charcot-marie-tooth disease, demyelinating, type 1b charcot-marie-tooth disease, slow nerve conduction type, linked to duffy charcot-marie-tooth disease, type 1b charcot-marie-tooth disease, type ib charcot-marie-tooth disease, type ib (disorder) charcot-marie-tooth neuropathy, type 1b cmt1b hereditary motor and sensory neuropathy 1b hereditary motor and sensory neuropathy ib hmsn 1b hmsn ib hmsn1b |
Orphanet | |
OMIM | |
UMLS | C0270912 |
SNOMED-CT | |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 55256 | ADI1 | 2.118 | DISEASES 9639 | ARHGEF10 | 2.296 | DISEASES 6314 | ATXN7 | 1.454 | DISEASES 121512 | FGD4 | 2.899 | DISEASES 2617 | GARS | 2.217 | DISEASES 2705 | GJB1 | 5.807 | DISEASES 3005 | H1F0 | 2.842 | DISEASES 81033 | KCNH6 | 2.903 | DISEASES 4359 | MPZ | 7.792 | DISEASES 4534 | MTM1 | 1.64 | DISEASES 8898 | MTMR2 | 3.917 | DISEASES 5453 | POU3F1 | 2.424 | DISEASES 6336 | SCN10A | 2.007 | DISEASES |
Locus | Symbol | Locus(Total Locus:1) MPZ | 1q23.3 |
Disease ID | 1425 |
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Disease | charcot-marie-tooth disease type 1b |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
Disease ID | 1425 |
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Disease | charcot-marie-tooth disease type 1b |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
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:36) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121913583 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306870 | T | C |
rs121913584 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306886 | G | T,A |
rs121913585 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307304 | G | C,A |
rs121913586 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306414 | C | T,G |
rs121913587 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306752 | A | G |
rs121913588 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306747 | C | T |
rs121913589 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306863 | C | T,G |
rs121913590 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306864 | G | A |
rs121913594 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306914 | T | C |
rs121913595 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306785 | G | T,A |
rs121913597 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307268 | T | A |
rs121913598 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307361 | G | A |
rs121913599 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306763 | G | T |
rs121913600 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306848 | C | T |
rs121913601 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307259 | G | A |
rs121913603 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306722 | T | G |
rs121913608 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306789 | C | T |
rs267607244 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306890 | A | T,G |
rs267607247 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161305953 | C | A |
rs281865121 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307403 | A | G |
rs281865122 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307317 | A | T |
rs281865123 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306915 | G | A |
rs281865124 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306912 | A | G |
rs281865125 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306850 | T | - |
rs281865126 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306819 | C | A |
rs281865127 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306767 | T | C |
rs281865128 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306426 | C | G |
rs281865129 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306164 | - | A |
rs281865130 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306809 | T | C |
rs281865131 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306107 | C | A |
rs281865132 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161305974 | G | A |
rs281865133 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307328 | C | T,A |
rs371856018 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307376 | T | C,G |
rs754068936 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161306462 | G | T |
rs770546306 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307402 | G | A,T |
rs797044845 | NA | 4359 | MPZ | umls:C0270912 | CLINVAR | NA | 0.448610195 | NA | MPZ | 1 | 161307311 | C | T |
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 | 1425 |
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Disease | charcot-marie-tooth disease type 1b |
Case | (Waiting for update.) |