Disease Term Disease ID Gene Symbol Classification References Source
Cyclin-dependent kinase-like 5 deficiency C4750718 CDKL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15917271, 16330482, 16611748, 17993579, 19161156, 19780792, 19793311, 20602487, 21482751, 21770923, 22670135, 22678952, 22779007, 22872100, 22922712, 23236174, 23934111, 24564546, 25266480, 25819767, 27187038, 27734276, 27848944, 28837158, 29444904 -