Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.130 GeneticVariation disease BEFREE ATP8A2-related disorders are autosomal recessive conditions that associate encephalopathy with or without hypotonia, psychomotor delay, abnormal movements, chorea, tremor, optic atrophy and cerebellar atrophy (CARMQ4). 31612321 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.130 GeneticVariation disease BEFREE Mutations in the ATP8A2 gene have been reported to cause severe autosomal recessive neurological diseases in humans characterized by intellectual disability, hypotonia, chorea, and hyperkinetic movement disorders with or without optic and cerebellar atrophy. 31397519 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.130 Biomarker disease BEFREE Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.130 Biomarker disease HPO