NFE2, nuclear factor, erythroid 2, 4778

N. diseases: 57; N. variants: 3
Disease: Malignant Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775387828
rs775387828
Entrez Id: 4778
Gene Symbol: NFE2
NFE2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. 23538339 2013