PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 GermlineCausalMutation disease ORPHANET Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 11157804 2001
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.780 CausalMutation disease CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.720 CausalMutation disease CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 11157804 2001
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949 2004
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076 2002
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672 2017
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.110 CausalMutation disease CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
CUI: C0009319
Disease: Colitis
Colitis 		0.010 AlteredExpression disease BEFREE In the colitis model, the oral administration of BY-2 plant cells expressing PRX-106 alleviated weight loss associated with immune-mediated colitis and improved bowel histology. 27832933 2017
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.010 AlteredExpression group BEFREE Novel prodrug PRX-P4-003, selectively activated by gut enzymes, may reduce the risk of iatrogenic addiction and abuse. 29574296 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE Peroxiredoxin (Prx) protein family is aberrantly expressed in various cancers including gastric cancer. 31280208 2019