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Entry Name Description Category Pathway Gene
H00577 Symptomatic generalized epilepsies Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... Nervous system disease (RMFSL) BRAT1 [HSA:221927] [KO:K23112]
(EPILX) SYN1 [HSA:6853] [KO:K19941]
(EPILX2) GABRA3 [HSA:2556] [KO:K05175]
H02087 Vertebral, cardiac, renal, and limb defects syndrome
Congenital NAD deficiency disorder
Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis ... Inherited metabolic disorder (VCRL1) HAAO [HSA:23498] [KO:K00452]
(VCRL2) KYNU [HSA:8942] [KO:K01556]
(VCRL3) NADSYN1 [HSA:55191] [KO:K01950]
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