WNT2, Wnt family member 2, 7472

N. diseases: 96; N. variants: 9
Disease: Hyperferritinemia, hereditary, with congenital cataracts ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833213
Disease: Hyperferritinemia, hereditary, with congenital cataracts
Hyperferritinemia, hereditary, with congenital cataracts 		0.010 Biomarker disease BEFREE The physiological role of the IRP-IRE system is illustrated by (i) hereditary hyperferritinemia cataract syndrome, a human disease in which ferritin L-chain IRE mutations interfere with IRP binding and appropriate translational repression, and (ii) a syndrome of progressive neurodegenerative disease and anemia that develops in adult mice lacking IRP2. 16850017 2006