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 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 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 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
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: C4086165
Disease: Childhood Neuroblastoma
Childhood 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: 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: 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: 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: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
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