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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3279322
Disease: Progressive flexion contractures
Progressive flexion contractures 		0.100 Biomarker phenotype HPO
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.100 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
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: 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 For the more aggressive sarcoma subtypes, 9/13 patients with PRUNE amplification developed metastases. 11687967 2001
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: 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: 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: 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