| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.270 | GeneticVariation | group | BEFREE | The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. | 31323543 | 2019 | ||||
|
0.270 | GeneticVariation | group | BEFREE | Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating disease for which there is no effective therapy. | 30042657 | 2018 | ||||
|
0.270 | GeneticVariation | group | BEFREE | Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position. | 23384994 | 2014 | ||||
|
0.270 | GeneticVariation | group | BEFREE | X-linked Charcot-Marie-Tooth (CMTX) disease is a hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 gene (GJB1 codes for connexin 32). | 20039784 | 2010 | ||||
|
0.270 | GeneticVariation | group | BEFREE | One hundred fifty index patients with HMSN and a median motor nerve conduction velocity of 25 m/s or greater and without mutations in the genes encoding connexin 32 and myelin protein zero. | 20008656 | 2009 | ||||
|
0.270 | GeneticVariation | group | BEFREE | X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). | 9541114 | 1998 | ||||
|
0.270 | Biomarker | group | MGD | Connexin32-null mice develop demyelinating peripheral neuropathy. | 9700485 | 1998 | ||||
|
0.270 | Biomarker | group | MGD | Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. | 9169515 | 1997 | ||||
|
0.270 | Biomarker | group | MGD | Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. | 8790370 | 1996 | ||||
|
0.270 | Biomarker | group | BEFREE | The X-linked type of HMSN is associated with defects of the connexin 32 gene, which encodes a gap junction protein. | 7541290 | 1995 |