EXOSC2, exosome component 2, 23404

N. diseases: 37; N. variants: 2
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 GeneticVariation disease BEFREE Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild intellectual disability. 31768969 2020
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 GeneticVariation disease BEFREE Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. 26843489 2016