Disease Term Disease ID Gene Symbol Classification References Source
CEREBELLOPARENCHYMAL DISORDER VI C1834711 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 -
Autosomal recessive cerebelloparenchymal disorder type 3 1170 PMPCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -