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Entry Name Description Category Pathway Gene
H00549 Tetralogy of Fallot The four classic features of tetralogy of Fallot are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overrinding aorta. These cardiac abnormalities are resulted from altered ... Developmental disorder; Cardiovascular disease hsa04330 Notch signaling pathway NKX2.5 [HSA:1482] [KO:K09345]
JAG1 [HSA:182] [KO:K06052]
ZFPM2 [HSA:23414] [KO:K17442]
GDF1 [HSA:2657] [KO:K05495]
GATA4 [HSA:2626] [KO:K09183]
GATA6 [HSA:2627] [KO:K17897]
TBX1 [HSA:6899] [KO:K10175]
H00550 Complete transposition of the great arteries Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle ... Developmental disorder; Cardiovascular disease MED13L [HSA:23389] [KO:K15164]
CFC1 [HSA:55997]
GDF1 [HSA:2657] [KO:K05495]
H00632 Heterotaxy
Situs ambiguus
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... Congenital malformation hsa04350 TGF-beta signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
NODAL [HSA:4838] [KO:K04666]
ZIC3 [HSA:7547] [KO:K18487]
CFC1 [HSA:55997]
ACVR2B [HSA:93] [KO:K13596]
CCDC11 [HSA:220136] [KO:K24225]
GDF1 [HSA:2657] [KO:K05495]
MMP21 [HSA:118856] [KO:K08000]
PKD1L1 [HSA:168507] [KO:K04987]
H00918 Double-outlet right ventricle ... Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans. Cardiovascular disease CFC1 [HSA:55997]
GDF1 [HSA:2657] [KO:K05495]
H01435 Congenital asplenia Congenital asplenia is a rare developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia ... Congenital malformation hsa03010 Ribosome RPSA [HSA:3921] [KO:K02998]
GDF1 [HSA:2657] [KO:K05495]
H02199 Congenital heart defects, multiple type Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... Congenital malformation (CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
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