RBM7, RNA binding motif protein 7, 10179

N. diseases: 6; N. variants: 0
Disease: Central nervous system demyelination ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		0.010 Biomarker disease BEFREE Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. 29727687 2018