Diseases

Displaying all 6 entries

Protein Name	Gene Name	Uniprot ID	Disease Name	References
Phosphomannomutase 2	Pmm2	Q9Z2M7	Cerebellar atrophy	Barone, R. et al. (J Neurol, 2015) and 2 others Barone, R. et al. (J Neurol, 2015), Monin, M. L. et al. (Orphanet J Rare Dis, 2014), Serrano, M. et al. (Orphanet J Rare Dis, 2015)
Tubulin beta-5 chain	Tubb5	P99024	Cerebellar atrophy	Pizzino, A. et al. (Neurology, 2014)
Granulin precursor	GRN	M3YD29	Cerebellar atrophy	Bocchetta, M. et al. (Neuroimage Clin, 2016)
Granulins	Grn	P28798	Cerebellar atrophy	Bocchetta, M. et al. (Neuroimage Clin, 2016)
eIF-2-alpha kinase activator GCN1	Gcn1	E9PVA8	Cerebellar atrophy	Dang, X. et al. (J Gen Virol, 2006)
Aconitate hydratase, mitochondrial	Aco2	Q99KI0	Cerebellar atrophy	Metodiev, M. D. et al. (J Med Genet, 2014)