Cerebellar granule cell hypertrophy and megalencephaly

Disease Term Disease ID Gene Symbol Classification References Source
Cerebellar Granule Cell Hypertrophy and Megalencephaly C1834712 EGFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1097835, 9259288, 9399897, 10353779, 10400993, 10468583, 10749983, 11476841, 14566704, 16007494, 17526800, 17942903, 21659347, 21828076, 21956414, 22252256, 22261759, 22266152, 22595938, 22628360, 23470840, 23475934, 24375884, 24778394, 25669429, 25756585, 26681312, 27477328, 28475857, 28677221 -