Disease Term Disease ID Gene Symbol References
CEREBELLOPARENCHYMAL DISORDER VI C1834711 EGFR
PIK3CA
PTEN 23475934, 22266152, 1097835, 21956414, 11476841, 25756585, 24778394, 17942903, 28475857, 10353779, 21659347, 14566704, 9259288, 10400993, 21828076, 25669429, 23470840, 22261759, 22252256, 22595938, 9399897, 22628360, 17526800, 10468583, 16007494, 24375884, 27477328, 10749983, 28677221, 26681312
Autosomal recessive cerebelloparenchymal disorder type 3 1170 PMPCA