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 CausalMutation disease CLINVAR
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
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype 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: 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 For the more aggressive sarcoma subtypes, 9/13 patients with PRUNE amplification developed metastases. 11687967 2001
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: 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: 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