Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Acute Inflammatory Demyelinating Polyneuropathy
0.520 GeneticVariation BEFREE Despite advancements in clinical management, treatment of patients with AIDP/GBS and its chronic variant CIDP remains palliative and relies on the use of non-specific immunemodulating therapies. 27861905

2017

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Acute Inflammatory Demyelinating Polyneuropathy
0.520 GeneticVariation BEFREE We report 2 children presenting with clinical features of an acute inflammatory demyelinating polyneuropathy (AIDP) who were subsequently diagnosed with underlying CMT1A. 19809938

2009

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Acute Inflammatory Demyelinating Polyneuropathy
0.520 SusceptibilityMutation ORPHANET Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 12439896

2002

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Acute Inflammatory Demyelinating Polyneuropathy
0.520 Biomarker CTD_human