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Entry Name Description Category Pathway Gene
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 (HTX1) ZIC3 [HSA:7547] [KO:K18487]
(HTX2) CFC1 [HSA:55997] [KO:K25454]
(HTX4) ACVR2B [HSA:93] [KO:K13596]
(HTX5) NODAL [HSA:4838] [KO:K04666]
(HTX6) CFAP53 [HSA:220136] [KO:K24225]
(HTX7) MMP21 [HSA:118856] [KO:K08000]
(HTX8) PKD1L1 [HSA:168507] [KO:K04987]
(HTX9) MNS1 [HSA:55329] [KO:K25441]
(HTX10) CFAP52 [HSA:146845] [KO:K24728]
(HTX11) CFAP45 [HSA:25790] [KO:K25551]
(HTX12) CIROP [HSA:100128908]
(RAI) GDF1 [HSA:2657] [KO:K05495]
H01195 VACTERL/VATER association ... cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution. Congenital malformation PTEN [HSA:5728] [KO:K01110]
HOXD13 [HSA:3239] [KO:K09298]
(VACTERLX) ZIC3 [HSA:7547] [KO:K18487]
(VCTERL) WBP11 [HSA:51729] [KO:K12866]
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]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
(CHTD8) SMAD2 [HSA:4087] [KO:K04500]
(CHTD9) PLXND1 [HSA:23129] [KO:K06822]
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