SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 GeneticVariation disease BEFREE Kruppel-like factor 4 (KLF4), Death-associated protein kinase 1 (DAPK1) and Spastic Paraplegia 20 (SPG20) methylation increase significantly in FL and DLBCL compared to follicular hyperplasias. 28324774 2017
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 Biomarker disease BEFREE In the present study, spastic paraplegia 20 (SPG20) promoter-methylated DNA, as a potential diagnostic biomarker, was investigated in plasma and tumor tissue samples from patients with CRC. 28521434 2017
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 AlteredExpression disease BEFREE Additionally, the expression of Spartin, the protein product encoded by spastic paraplegia-20, was analyzed in tissues from 119 gastric cancer patients who underwent radical gastrectomy at Xi'an Jiaotong University between 2005 and 2010. 24381142 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 Biomarker disease BEFREE Here, we show that the SPG20 (spastic paraplegia-20) promoter, encoding the multifunctional Spartin protein, is hypermethylated in 89% of colorectal carcinomas, 78% of adenomas and only 1% of normal mucosa samples. 21499309 2011
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 GeneticVariation disease BEFREE Mutation of the protein spartin is a cause of one form of spastic paraplegia. 20646264 2010
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.150 Biomarker disease HPO