Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE We summarize and discuss nm23-H1 genetics and the prognosis of neuroblastoma, structural and functional changes associated with the S120G mutation of NDPK-A, as well as the evidence supporting the role of NDPK-A as a metastasis promoter. 28991262 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils. 21484438 2011
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE The point mutation S120G in human nucleoside diphosphate kinase A, identified in patients with neuroblastoma, causes a protein folding defect. 19186179 2009
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis. 15280446 2004
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE However, the k-pn type proline-96 to serine (P96S) and neuroblastoma type serine-120 to glycine (S120G) mutations of Nm23-H1 abrogated its inhibitory activity on colonization and invasion. 12859952 2003
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma. 11687967 2001
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea. 10400630 1999
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.080 GeneticVariation BEFREE A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression. 7794272 1995