Gene table of PMP22 : peripheral myelin protein 22

Gene-disease associations table

Disease IDDisease nameSource of annotation with PMP22OMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS
162500NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIESClinVar, OMIM, HUMSAVAR link to OMIM 1PMP22
180800ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIAOMIM link to OMIM 2PMP22, MPZ
139393GUILLAIN-BARRE SYNDROME, FAMILIALOMIM link to OMIM 1PMP22

Download the gene annotation in CSV format

Annotation of the gene PMP22

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46