Developmental and epileptic encephalopathy

Disease Term Disease ID Gene Symbol Classification References Source
CNTNAP2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY
163681
CNTNAP2 Unknown
16571880
Orphanet
CONTACTIN ASSOCIATED PROTEIN 2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY
C5575702
CNTNAP2 Unknown — Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY
C5779964MONDO:0100062
ANO4 Causal — Disgenet
ARHGEF15 Causal — Disgenet
BSCL2 Causal — Disgenet
CACNA1E Causal — ClinGen Disgenet
CACNA2D2 Causal — Disgenet
CDKL5 Causal — Disgenet
DNM1 Causal — ClinGen
GNAO1 Causal — ClinGen Disgenet
GOT2 Causal — Disgenet
HCN1 Causal — Disgenet
KCNB1 Causal — Disgenet
KCNC2 Causal — ClinGen Disgenet
KCNH5 Causal — Disgenet
KCNQ2 Causal — Disgenet
PIGP Causal — Disgenet
PIGQ Causal — Disgenet
SCN1A Causal — Disgenet
SCN2A Causal — Disgenet
SCN3A Causal — ClinGen Disgenet
SCN8A Causal — Disgenet
SLC25A22 Causal — ClinGen Disgenet
SNAP25 Causal — Disgenet
SPTAN1 Causal — ClinGen Disgenet
ST3GAL3 Causal — Disgenet
STXBP1 Causal — ClinGen Disgenet
UBA5 Causal — Disgenet
ABAT Unknown — ClinGen
ALG13 Unknown — ClinGen Disgenet
CSTB Unknown — ClinGen
CUX2 Unknown — ClinGen Disgenet
DEPDC5 Unknown — Disgenet
DOCK7 Unknown — ClinGen
FGF12 Unknown — ClinGen
FRRS1L Unknown — ClinGen
GABRA2 Unknown — Disgenet
GABRB1 Unknown — ClinGen
GABRB3 Unknown — ClinGen
GLUL Unknown — ClinGen
GRIA3 Unknown — Disgenet
ITPA Unknown — ClinGen Disgenet
KCNA2 Unknown — ClinGen
KCNQ3 Unknown — ClinGen
MAST3 Unknown — Disgenet
NECAP1 Unknown — ClinGen
PACS2 Unknown — ClinGen
PLCB1 Unknown — ClinGen
RYR3 Unknown — ClinGen
SCN1B Unknown — ClinGen