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Entry | Name | Description | Category | Pathway | Gene |
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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] |
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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] |
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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] |
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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] |
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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] |
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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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