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Entry Name Description Category Pathway Gene
H00183 Homocystinuria Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. Inherited metabolic disorder CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
H00262 Neural tube defects, folate-sensitive Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status ... Congenital malformation MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
H01552 Down syndrome
Trisomy 21 		... studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are ... Chromosomal abnormality
H01649 Schizophrenia Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive ... Mental and behavioural disorder (SCZD4) PRODH [HSA:5625] [KO:K00318]
(SCZD6) NRG1 [HSA:3084] [KO:K05455]
(SCZD9) DISC1 [HSA:27185] [KO:K16534]
(SCZD15) SHANK3 [HSA:85358] [KO:K15009]
(SZCD17) NRXN1 [HSA:9378] [KO:K07377]
(SCZD18) SLC1A1 [HSA:6505] [KO:K05612]
(SCZD19) RBM12 [HSA:10137] [KO:K24526]
MTHFR [HSA:4524] [KO:K25004]
CHI3L1 [HSA:1116] [KO:K17523]
SYN2 [HSA:6854] [KO:K19941]
DRD3 [HSA:1814] [KO:K04146]
RTN4R [HSA:65078] [KO:K16659]
DAOA [HSA:267012] [KO:K24397]
HTR2A [HSA:3356] [KO:K04157]
AKT1 [HSA:207] [KO:K04456]
C4A [HSA:720] [KO:K03989]
APOL2 [HSA:23780] [KO:K14480]
APOL4 [HSA:80832] [KO:K14480]
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