Encephalopathy

Disease Term Disease ID Gene Symbol Classification References Source
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect 330050 DNM1L Causal Pathogenic evidence from ClinVar - ClinVar
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION C3280660 DNM1L Causal Pathogenic evidence from ClinVar 17460227, 26604000, 26825290, 26992161, 27145208, 27301544, 27328748, 27604308, 29899447 ClinVar
DYM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
YARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17460227, 26604000, 27145208 -
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES C4540052 LIPT2 Causal Pathogenic evidence from ClinVar 28757203, 28803783, 30914295 ClinVar
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 C4310726 MFF Causal Pathogenic evidence from ClinVar 22499341, 26783368, 27604308 ClinVar
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect 485421 MFF Causal Pathogenic evidence from ClinVar - ClinVar
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY C4310675 NAXE Causal Pathogenic evidence from ClinVar 27122014, 27616477, 29884839 ClinVar
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 293955 TPK1 Causal Pathogenic evidence from ClinVar - ClinVar
Profound static encephalopathy C4024944 UNC80 Causal Pathogenic evidence from ClinVar - ClinVar
PNPT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Acute encephalopathy C1306587 ACY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCCB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RANBP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC22A5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC25A15 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Encephalopathy, Subacute Necrotizing, Infantile C0751267 BCS1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX15 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ECHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25125611, 26099313 -
NDUFS3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14729820 -
NDUFS4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11181577 -
SDHA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SURF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16765830 -
TACO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19503089 -
Encephalopathy, Subacute Necrotizing, Juvenile C0751268 BCS1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX15 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ECHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25125611, 26099313 -
NDUFS3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14729820 -
NDUFS4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11181577 -
SDHA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SURF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16765830 -
TACO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19503089 -
Nonprogressive encephalopathy C4024950 KYNU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS C1968556 MECP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1241840, 10508514, 10577905, 10767337, 10814718, 10852707, 10854091, 10991688, 11007980, 11055898, 11058114, 11214906, 11238684, 11241840, 11245712, 11309367, 11309679, 11462237, 11524741, 11738864, 11738866, 11738879, 11738883, 11746022, 11913567, 11960578, 12325019, 12325033, 12655490, 12843318, 14598336, 14649554, 14974082, 15633890, 15737703, 16077736, 16225173, 16473305, 17089071, 17142618, 17236109, 17387578, 18021529, 18174548, 18332345, 18337588, 18477000, 19371229, 19722030, 19914908, 20151026, 20376788, 21160487, 21831886, 21878110, 21982064, 22182064, 22368975, 22476991, 22497713, 22525432, 22923521, 23238081, 23270700, 23421866, 23696494, 23770565, 23770587, 24283265, 24511209, 24626160, 24970834, 25473036, 25541993, 25634563, 26350204, 26418480, 26490184, 26604147, 26647311, 27442528, 27465203, 27929079, 29618507 -
Encephalopathy due to prosaposin deficiency 139406 PSAP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY C4540059 TRAPPC12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28777934 -