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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]
H01512 Langerhans cell histiocytosis ... frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well as MAP2K1. Genetic, molecular and functional data implicate activation of the MAPK (ERK) signalling pathway ... Cancer BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
H01745 Cardiofaciocutaneous syndrome Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present ... Congenital malformation (CFC1) BRAF [HSA:673] [KO:K04365]
(CFC2) KRAS [HSA:3845] [KO:K07827]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
H02349 Odontochondrodysplasia
Goldblatt syndrome 		... shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification. Congenital malformation (ODCD1) TRIP11 [HSA:9321] [KO:K23368]
(ODCD2) MIA3 [HSA:375056] [KO:K23704]
H02425 Erdheim-Chester disease Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, ... Cancer BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
ARAF (mutation) [HSA:369] [KO:K08845]
MAP2K2 (mutation) [HSA:5605] [KO:K04369]
KRAS (mutation) [HSA:3845] [KO:K07827]
NRAS (mutation) [HSA:4893] [KO:K07828]
H02631 Melorheostosis ... asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways. Musculoskeletal disease MAP2K1 [HSA:5604] [KO:K04368]
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