Disease

Type 2 Charcot-Marie-Tooth Disease

About the Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2e, also known as charcot-marie-tooth disease type 2, is related to charcot-marie-tooth disease, axonal, type 2j and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways are Cytoskeletal Signaling and tRNA Aminoacylation. Affiliated tissues include skeletal muscle, heart and cortex, and related phenotypes are upper limb muscle weakness and peripheral axonal neuropathy

Common Targets
SH3TC2 | YARS1 | GARS1 | AARS1 | SPG11 | TRPV4 | ATP1A1 | MORC2 | MPZ | HADHA | PLCL1 | CPA6 | EGR2 | ARHGAP39 | DNM2 | MTRFR | HARS1 | LRSAM1 | KIF5A | BSCL2 | IGHMBP2 | HSPB8 | CYP7B1 | HINT1 | NOXRED1 | JAG1 | MME | AASS | MFN2 | ZNF264 | MTMR2 | SCN9A | PLEKHG5 | PRKCB | HSPB1 | TTN | LMNA | EFCAB8 | KARS1 | ZNF551 | MARS1 | ATP6 | VCP | NEFH | STRN | REEP1 | NAPRT | SORD | FAM86B1 | DHTKD1 | JPH1 | GDAP1 | DCST2 | NEFL | KIF1B | HDAC6 | GJB1 | MICAL1 | DCAF8

疾病靶点研报
Type 2 Charcot-Marie-Tooth Disease

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Retinopathy Of Prematurity | Congenital Hypofibrinogenemia | Nephrosclerosis | Transient Bullous Dermolysis Of The Newborn | Aromatic L-amino Acid Decarboxylase Deficiency | Hyperammonemia | Patent Foramen Ovale | Open-angle Glaucoma | Thyroiditis, Autoimmune | Dyggve-Melchior-Clausen Disease | Benign Familial Neonatal Convulsions | Cherubism | Osteopathia Striata With Cranial Sclerosis | Hemochromatosis Type 2 | Acrodysostosis | Parkinson Disease 6, Autosomal Recessive Early-onset | Pain | Benign Hereditary Chorea | LMNA-related Congenital Muscular Dystrophy | Hamartoma | Goldenhar Syndrome | Meniere's Disease | Distal Spinal Muscular Atrophy | Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form | Aceruloplasminemia | Proctitis | H Syndrome | Hypobetalipoproteinemias | Cluster Headache | Preaxial Polydactyly | Kindler Syndrome | Pitt-Hopkins Syndrome | Tetraplegia | Heavy Chain Disease | Epilepsy Of Infancy With Migrating Focal Seizures | Joubert Syndrome | Interstitial Lung 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