PRUNE1, prune exopolyphosphatase 1, 58497

N. diseases: 51; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.710 GeneticVariation disease BEFREE NMIHBA was recently reported to be caused by PRUNE1 mutations. 29797509 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. 30556349 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 Biomarker phenotype BEFREE For the more aggressive sarcoma subtypes, 9/13 patients with PRUNE amplification developed metastases. 11687967 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 Biomarker phenotype BEFREE Human PRUNE is thought to enhance the metastasis of tumor cells. 21234814 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 Biomarker phenotype BEFREE The h-prune gene is involved in cellular motility and metastasis formation in breast cancer through interacting with the nm23-H1 protein. 15671547 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 Biomarker phenotype BEFREE Drosophila prune protein (h-prune) has been proved to play an essential role in regulating tumor metastasis. 30665854 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE This series of events suggests that the Nm23-H1/h-Prune protein complex regulates cancer progression and that its specific impairment could be a new therapeutic strategy in oncology. 25138575 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE We outline here the clinical importance of targeting of the Nme-1 (NDPK-A)-Prune-1 protein complex in cancer, where an imbalance in the formation of this protein-protein complex can result in inhibition of tumor progression. 29449633 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 Biomarker phenotype BEFREE PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. 28334956 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE The identification of these two modes of inhibition of formation of the nm23-H1-h-prune protein complex pave the way toward new challenges, including translational studies using IC261 or this competitive peptide 'in vivo' to inhibit cellular motility induced by nm23-H1-h-prune complex formation during progression of breast cancer. 17906697 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE The h-prune gene is involved in cellular motility and metastasis formation in breast cancer through interacting with the nm23-H1 protein. 15671547 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE A similar situation was observed in all breast carcinomas with amplification of PRUNE. 11687967 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE The h-prune gene is involved in cellular motility and metastasis formation in breast cancer through interacting with the nm23-H1 protein. 15671547 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE The identification of these two modes of inhibition of formation of the nm23-H1-h-prune protein complex pave the way toward new challenges, including translational studies using IC261 or this competitive peptide 'in vivo' to inhibit cellular motility induced by nm23-H1-h-prune complex formation during progression of breast cancer. 17906697 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 Biomarker disease BEFREE Our study focuses on the role of the Nm23-H1/h-Prune protein complex in Neuroblastoma. 23448979 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 GeneticVariation disease 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
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.020 GeneticVariation group BEFREE Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. 28211990 2017
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.020 GeneticVariation group BEFREE Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. 30556349 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group BEFREE This novel feature expands the clinical consequences of PRUNE mutations and allow to converge PRUNE syndrome with previous descriptions of neurodevelopmental/neurodegenerative disorders linked to altered microtubule dynamics. 29307700 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group BEFREE A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. 30556349 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 GeneticVariation disease 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
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 Biomarker disease BEFREE Our study focuses on the role of the Nm23-H1/h-Prune protein complex in Neuroblastoma. 23448979 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE The h-prune protein is a member of the DHH protein superfamily, and its overexpression in breast, colorectal and gastric cancers correlates with depth of invasion and degree of lymph-node metastasis. 17952613 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE The expression of h-prune (human homolog of Drosophila prune protein; HGNC13420), an exopolyphosphatase, is correlated with progression and aggressiveness in several cancers and promotes migration and invasion. 27037526 2016