FOXI1, forkhead box I1, 2299

N. diseases: 42; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.010 Biomarker disease BEFREE Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in <i>ATP6V0A4-</i>, <i>ATP6V1B1-</i>, and <i>FOXI1-</i>dRTA), and hereditary hemolytic anemia (in some individuals with <i>SLC4A1-</i>dRTA). 31600869 2019