RBFOX2, RNA binding fox-1 homolog 2, 23543

N. diseases: 80; N. variants: 6
Disease: Osteopetrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.020 Biomarker disease BEFREE Inherited combined pRTA and distal RTA with osteopetrosis and pure pRTA associated with ocular abnormalities, a rare disease which has been recently described. 17881426 2008
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.020 Biomarker disease BEFREE Recessive mixed proximal-distal RTA accompanied by osteopetrosis and mental retardation is associated with mutations in cytoplasmic carbonic anhydrase II. 11826292 2002