RANBP2, RAN binding protein 2, 5903

N. diseases: 110; N. variants: 57
Disease: Acute necrotizing encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434502
rs121434502
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
CUI: C1855020
Disease:
Acute necrotizing encephalopathy 		0.020 GeneticVariation BEFREE Both were diagnosed with familial ANE after identifying a common missense mutation in RANBP2 (c.1754C>T: p.Thr585Met) in the younger sister and their father. 28336122 2017
dbSNP: rs121434502
rs121434502
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
CUI: C1855020
Disease:
Acute necrotizing encephalopathy 		0.020 GeneticVariation BEFREE This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). 27591117 2016
dbSNP: rs770727082
rs770727082
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
CUI: C1855020
Disease:
Acute necrotizing encephalopathy 		0.010 GeneticVariation BEFREE A heterozygous novel rare missense variant (c.4993A>G, p.Lys1665Glu) was identified in <i>RANBP</i>2, a gene associated with acute necrotizing encephalopathy. 29593631 2018