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 GermlineCausalMutation disease ORPHANET A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. 30556349 2019
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.710 Biomarker disease GENOMICS_ENGLAND PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
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 UNIPROT PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
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 UNIPROT Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990 2017
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: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.710 CausalMutation disease CLINVAR
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 UNIPROT Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease 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: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
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