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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00542 | Polycystic kidney disease | Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts. | Congenital malformation |
(PKD1) PKD1 [HSA:5310] [KO:K04985] (PKD2) PKD2 [HSA:5311] [KO:K04986] (PKD3) GANAB [HSA:23193] [KO:K05546] (PKD4) PKHD1 [HSA:5314] [KO:K19865] (PKD5) DZIP1L [HSA:199221] [KO:K16470] (PKD6) DNAJB11 [HSA:51726] [KO:K09517] (PKD7) ALG5 [HSA:29880] [KO:K00729] |
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| 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] |
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