| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.250 | Biomarker | group | BEFREE | Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. | 28003645 | 2017 | ||||
|
0.250 | GeneticVariation | group | BEFREE | Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). | 22978647 | 2013 | ||||
|
0.250 | Biomarker | group | MGD | Ndrg1 in development and maintenance of the myelin sheath. | 21303696 | 2011 | ||||
|
0.250 | AlteredExpression | group | BEFREE | In addition, Ndrg-1 expression can be regulated by androgens and is involved in the pathology of the disease, Hereditary Motor and Sensory Neuropathy-Lom (HMSNL). | 16920733 | 2006 | ||||
|
0.250 | Biomarker | group | BEFREE | Recently, human NDRG1 was identified as a gene responsible for hereditary motor and sensory neuropathy-Lom (classified as Charcot-Marie-Tooth disease type 4D), which is characterized by early-onset peripheral neuropathy, leading to severe disability in adulthood. | 15082788 | 2004 | ||||
|
0.250 | Biomarker | group | MGD | Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. | 15082788 | 2004 | ||||
|
0.250 | GeneticVariation | group | BEFREE | In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. | 12872253 | 2003 |