PRUNE1, prune exopolyphosphatase 1, 58497

N. diseases: 51; N. variants: 12
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773618224
rs773618224
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990 2017
dbSNP: rs773618224
rs773618224
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
dbSNP: rs773618224
rs773618224
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs773618224
rs773618224
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR