Disease Index

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the AARS gene on chromosome 16q21

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33

Charcot-Marie-Tooth disease type 2 that has material basis in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13

human disease

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MARS gene on chromosome 12q13

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NAGLU gene on chromosome 17q21

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MORC2 gene on chromosome 22q12

Charcot-Marie-Tooth disease intermediate type that has material basis in variation in the region 10q24.1-q25.1

Charcot-Marie-Tooth disease intermediate type that has material basis in mutation in the gene encoding dynamin-2 (DNM2)

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the YARS gene on chromosome 1p35

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the INF2 gene on chromosome 14q32

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the GNB4 gene on chromosome 3q28

Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s

Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the GDAP1 gene on chromosome 8q21

Charcot-Marie-Tooth disease intermediate type that has material basis in compound heterozygous mutation in the KARS gene on chromosome 16q23

Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36

Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the COX6A1 gene on chromosome 12q24

Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons

Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)

Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the gene encoding myelin protein zero (MPZ)

Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the LITAF gene on chromosome 16p13

Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the early growth response gene-2 (EGR2)

Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

human disease

Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the KIF1B gene on chromosome 1p36

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MFN2 gene on chromosome 1p36.2