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	charcot-marie-tooth disease type 1b

Disease ID	1425
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	ORPHANET:101082
OMIM	OMIM:118200
UMLS	C0270912
SNOMED-CT	SNOMEDCT_US_2016_09_01:42986003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4359 \| MPZ \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4359 \| MPZ \| CIPHER
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
Disease	charcot-marie-tooth disease type 1b
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0030175 \| Tomacula \| 1

Disease ID	1425
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)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:36)
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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1425
Disease	charcot-marie-tooth disease type 1b
Case	(Waiting for update.)