Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. 28211990

2017
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. 28334956

2017
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

2015
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012