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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01556 | Meningioma | ... discovered in non-NF2 meningiomas. The recent identification of somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the ... | Cancer |
NF2 [HSA:4771] [KO:K16684] SMARCB1 [HSA:6598] [KO:K11648] SMARCE1 [HSA:6605] [KO:K11651] SUFU [HSA:51684] [KO:K06229] PTEN [HSA:5728] [KO:K01110] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] TRAF7 [HSA:84231] [KO:K10646] AKT1 [HSA:207] [KO:K04456] KLF4 [HSA:9314] [KO:K17846] SMO [HSA:6608] [KO:K06226] MN1 [HSA:4330] [KO:K22543] PDGFB [HSA:5155] [KO:K17386] |
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| H01852 | Postaxial polydactyly | Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on ... | Congenital malformation |
(PAPA1,PAPB) GLI3 [HSA:2737] [KO:K06230] (PAPA6) ZNF141 [HSA:7700] [KO:K09228] (PAPA7) IQCE [HSA:23288] [KO:K24677] (PAPA8) GLI1 [HSA:2735] [KO:K16797] (PAPA9) FAM92A [HSA:137392] [KO:K23868] (PAPA10) KIAA0825 [HSA:285600] [KO:K24554] |
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| H02332 | Preaxial polydactyly | ... (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GLI3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD. | Congenital malformation |
(PPD1) GLI1 [HSA:2735] [KO:K16797] (PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217] (PPD4) GLI3 [HSA:2737] [KO:K06230] |
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