PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		A 0.710 CausalMutation CLINVAR Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. 26059842 2016
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.710 GeneticVariation BEFREE Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. 26059842 2016
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		A 0.710 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		A 0.710 CausalMutation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		A 0.710 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		A 0.710 CausalMutation CLINVAR A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 11157804 2001
dbSNP: rs574861276
rs574861276
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672 2017
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0270922
Disease:
Peripheral demyelinating neuropathy 		A 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
dbSNP: rs104894715
rs104894715
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
dbSNP: rs1568704829
rs1568704829
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		CA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
dbSNP: rs16974263
rs16974263
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0029882
Disease:
Otitis Media 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion. 27632927 2016
dbSNP: rs752192677
rs752192677
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732 2013
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0270922
Disease:
Peripheral demyelinating neuropathy 		A 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs104894715
rs104894715
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs1568704829
rs1568704829
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		CA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0270922
Disease:
Peripheral demyelinating neuropathy 		A 0.700 CausalMutation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
dbSNP: rs104894715
rs104894715
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
dbSNP: rs1568704829
rs1568704829
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		CA 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949 2004
dbSNP: rs104894708
rs104894708
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004