Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.400 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201

2017