Disease Index

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the MED25 gene

Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding glycyl tRNA synthetase (GARS)

human disease

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21

human disease

Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23

Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the VCP gene on chromosome 9p13

Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance

Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21

Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)

Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the SBF2 gene

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SH3TC2 gene

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous mutation in the HK1 gene on chromosome 10q22

Charcot-Marie-Tooth disease type 4 that has material basis in mutations in the gene encoding frabin (FGD4)

Charcot-Marie-Tooth disease type 4 that has material basis in compound heterozygous mutations in the FIG4 gene on chromosome 6q21

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34

Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait

Charcot-Marie-Tooth disease that has material basis in X-linked inheritance of a point mutation in the connexin-32 gene

Charcot-Marie-Tooth disease X-linked that has material basis in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13

Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the PDK3 gene on chromosome Xp22

Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2

Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xq26

Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the AIFM1 gene on chromosome Xq26