Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.310 Biomarker disease BEFREE The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome. 24807585 2014
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.310 GermlineCausalMutation disease ORPHANET Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013