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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. 30556349 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group 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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group BEFREE We describe an additional patient with homozygous PRUNE mutation who presented with spinal muscular atrophy phenotype, in addition to the already known brain developmental disorder. 29307700 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 AlteredExpression disease BEFREE PRUNE1 is highly expressed in metastatic medulloblastoma group 3, which is characterized by TGF-β signalling activation, c-MYC amplification, and OTX2 expression. 29490009 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.010 AlteredExpression disease BEFREE PRUNE1 is highly expressed in metastatic medulloblastoma group 3, which is characterized by TGF-β signalling activation, c-MYC amplification, and OTX2 expression. 29490009 2018
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 AlteredExpression disease BEFREE PRUNE1 is highly expressed in metastatic medulloblastoma group 3, which is characterized by TGF-β signalling activation, c-MYC amplification, and OTX2 expression. 29490009 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group LHGDN Overexpression of h-prune in breast cancer is correlated with advanced disease status. 15671547 2005
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.010 Biomarker disease BEFREE We found amplification of PRUNE in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. 11687967 2001
CUI: C0023827
Disease: liposarcoma
liposarcoma 		0.010 Biomarker disease BEFREE We found amplification of PRUNE in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. 11687967 2001
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		0.010 Biomarker disease BEFREE We found amplification of PRUNE in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. 11687967 2001
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 Biomarker group BEFREE We found amplification of PRUNE in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. 11687967 2001
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.010 Biomarker group BEFREE We found amplification of PRUNE in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. 11687967 2001
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 A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. 30556349 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.020 Biomarker group BEFREE Drosophila prune protein (h-prune) has been proved to play an essential role in regulating tumor metastasis. 30665854 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: 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: 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
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: 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: C4086165
Disease: Childhood Neuroblastoma
Childhood 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: 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