Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
... (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT-PBX1 fusion (E2A-PBX); the t(9;22) (q34;q11.2) "Philadelphia" chromosome ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
|
| H00010 | Multiple myeloma | ... the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and ... | Cancer |
CCND1-IgH (translocation) [HSA:595] [KO:K04503] CCND3-IgH (translocation) [HSA:896] [KO:K10152] IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094] IgH-MMSET (translocation) [HSA:7468] [KO:K11424] IgH-MAF (translocation) [HSA:4094] [KO:K09035] N-ras (activating mutation) [HSA:4893] [KO:K07828] K-ras (activating mutation) [HSA:3845] [KO:K07827] c-MYC (dysregulation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] |
|
| H00843 | Hartnup disorder | Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia ... | Inherited metabolic disorder | SLC6A19 [HSA:340024] [KO:K05334] | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | ... hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia. | Congenital malformation | ZBTB16 [HSA:7704] [KO:K10055] | |
| H01218 | P14 deficiency | The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia ... | Primary immunodeficiency | MAPBPIP [HSA:28956] [KO:K20398] | |
| H02493 | Al Kaissi syndrome | ... has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular ... | Congenital malformation | CDK10 [HSA:8558] [KO:K02449] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |