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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00504 | Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome. | Congenital malformation |
(RSTS1) CREBBP [HSA:1387] [KO:K04498] (RSTS2) EP300 [HSA:2033] [KO:K04498] |
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| H01613 | Follicular lymphoma | ... the ability of MLL2 to activate gene transcription through H3K4 methylation. Mutations of other histone modifiers (CREBBP, EZH2, MEF2B, and EP300) are found in ;33%, 27%, 15%, and 9% of FL, respectively. | Cancer |
IgH-BCL2 (translocation) [HSA:596] [KO:K02161] EZH2 (mutation) [HSA:2146] [KO:K11430] MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187] CREBBP (mutation) [HSA:1387] [KO:K04498] MEF2B (mutation) [HSA:4207] [KO:K09261] EP300 (mutation) [HSA:2033] [KO:K04498] |
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| H02434 | Diffuse large B-cell lymphoma, not otherwise specified | Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of ... | Cancer |
EZH2 (mutation) [HSA:2146] [KO:K11430] CREBBP (mutation/deletion) [HSA:1387] [KO:K04498] EP300 (mutation/deletion) [HSA:2033] [KO:K04498] GNA13 (mutation) [HSA:10672] [KO:K04639] GNAI2 (mutation) [HSA:2768] [KO:K04346] TNFRSF14 (mutation) [HSA:8764] [KO:K05152] BCL6 (mutation) [HSA:604] [KO:K15618] MYC (chromosomal translocation) [HSA:4609] [KO:K04377] PTEN (deletion) [HSA:5728] [KO:K01110] BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161] CARD11 (mutation) [HSA:84433] [KO:K07367] CD79A (mutation) [HSA:973] [KO:K06506] CD79B (mutation) [HSA:974] [KO:K06507] TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859] MYD88 (mutation) [HSA:4615] [KO:K04729] CDKN2A (deletion) [HSA:1029] [KO:K06621] CDKN2B (deletion) [HSA:1030] [KO:K04685] PRDM1 (mutation/deletion) [HSA:639] [KO:K24501] MLL2 (mutation) [HSA:8085] [KO:K09187] MLL3 (mutation) [HSA:58508] [KO:K09188] B2M (mutation/deletion) [HSA:567] [KO:K08055] CD58 (mutation/deletion) [HSA:965] [KO:K06492] TP53 (mutation) [HSA:7157] [KO:K04451] MEF2B (mutation) [HSA:100271849] [KO:K09261] FOXO1 (mutation) [HSA:2308] [KO:K07201] |
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| H02650 | Menke-Hennekam syndrome | Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the ... | Congenital malformation |
(MKHK1) CREBBP [HSA:1387] [KO:K04498] (MKHK2) EP300 [HSA:2033] [KO:K04498] |
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