Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00003 | Acute myeloid leukemia | Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program ... | Cancer | hsa05221 Acute myeloid leukemia |
PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126] |
| H01931 |
Lethal-type popliteal pterygium syndrome Bartsocas-Papas syndrome (BPS) |
Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more ... | Congenital malformation |
(BPS1) RIPK4 [HSA:54101] [KO:K08848] (BPS2) CHUK [HSA:1147] [KO:K04467] |
|
| H02095 | Perrault syndrome | Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in ... | Congenital malformation |
(PRLTS1) HSD17B4 [HSA:3295] [KO:K12405] (PRLTS2) HARS2 [HSA:23438] [KO:K01892] (PRLTS3) CLPP [HSA:8192] [KO:K01358] (PRLTS4) LARS2 [HSA:23395] [KO:K01869] (PRLTS5) TWNK [HSA:56652] [KO:K17680] (PRLTS6) ERAL1 [HSA:26284] [KO:K03595] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |