PRUNE1, prune exopolyphosphatase 1, 58497

N. diseases: 51; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521927
rs1057521927
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: rs1057521927
rs1057521927
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 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: rs1057521927
rs1057521927
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 		0.800 GeneticVariation UNIPROT Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1057521927
rs1057521927
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1085308033
rs1085308033
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT
dbSNP: rs1085308033
rs1085308033
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR
dbSNP: rs752599948
rs752599948
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs752599948
rs752599948
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT
dbSNP: rs767769359
rs767769359
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT
dbSNP: rs767769359
rs767769359
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR
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
dbSNP: rs11204762
rs11204762
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3738476
rs3738476
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs7532312
rs7532312
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1553251507
rs1553251507
Entrez Id: 55793;58497
Gene Symbol: MINDY1;PRUNE1
MINDY1;PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		TGGAGG 0.700 CausalMutation CLINVAR Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990 2017
dbSNP: rs1553251507
rs1553251507
Entrez Id: 55793;58497
Gene Symbol: MINDY1;PRUNE1
MINDY1;PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		TGGAGG 0.700 CausalMutation CLINVAR PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
dbSNP: rs1553253812
rs1553253812
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956 2017
dbSNP: rs1553253812
rs1553253812
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990 2017
dbSNP: rs1553251507
rs1553251507
Entrez Id: 55793;58497
Gene Symbol: MINDY1;PRUNE1
MINDY1;PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		TGGAGG 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1553253812
rs1553253812
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1553251507
rs1553251507
Entrez Id: 55793;58497
Gene Symbol: MINDY1;PRUNE1
MINDY1;PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		TGGAGG 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
dbSNP: rs1553253812
rs1553253812
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012