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: 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