RBM7, RNA binding motif protein 7, 10179

N. diseases: 6; N. variants: 0
Disease: Pontoneocerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		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