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Entry Name Description Category Pathway Gene
H00523 Noonan syndrome and related disorders Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... Congenital malformation (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H01250 Hereditary gingival fibromatosis ... mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations ... Digestive system disease (GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
H01738 Noonan syndrome Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive ... Congenital malformation (NS1) PTPN11 [HSA:5781] [KO:K07293]
(NS3) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(NS11) MRAS [HSA:22808] [KO:K07831]
(NS12) RRAS2 [HSA:22800] [KO:K07830]
(NS13) MAPK1 [HSA:5594] [KO:K04371]
(NS14) SPRED2 [HSA:200734] [KO:K04703]
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