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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] [KO:K28185]
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]
H00101 Other phagocyte defects ... infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous ... Primary immunodeficiency
H00802 Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other ... Congenital malformation (EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCL3) THBS2 [HSA:7058] [KO:K04659]
(EDSCLL1) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
H01194 X-linked chondrodysplasia punctata ... rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been found that defects in D8-D7 sterol isomerase (EBP) cause CDPX2 and suggest a role for sterols in bone development. Congenital malformation (CDPX1) ARSL [HSA:415] [KO:K18222]
(CDPX2) EBP [HSA:10682] [KO:K01824]
H01725 Primary immunodeficiency disease Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... Immune system disease hsa05340 Primary immunodeficiency (IMD14A/14B) PIK3CD [HSA:5293] [KO:K00922]
(IMD69) IFNG [HSA:3458] [KO:K04687]
(IMD73A/73B/73C) RAC2 [HSA:5880] [KO:K07860]
(IMD75) TET2 [HSA:54790] [KO:K24309]
(IMD94) IL6ST [HSA:3572] [KO:K05060]
(IMD100) OAS1 [HSA:4938] [KO:K14216]
(IMD101) POLR3F [HSA:10621] [KO:K03025]
(IMD102) SASH3 [HSA:54440] [KO:K23706]
(IMD107) OTULIN [HSA:90268] [KO:K18343]
(IMD108) CEBPE [HSA:1053] [KO:K10051]
(IMD109) TNFRSF9 [HSA:3604] [KO:K05146]
(IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656]
(IMD113) ARPC5 [HSA:10092] [KO:K05754]
(IMD114) SLC19A1 [HSA:6573] [KO:K14609]
(IMD118) MCTS1 [HSA:28985] [KO:K07575]
(IMD125) FLT3LG [HSA:2323] [KO:K05454]
(IMD126) PTCRA [HSA:171558] [KO:K06056]
(IMD132B) TRAF3 [HSA:7187] [KO:K03174]
H02024 Neutrophil specific granule deficiency ... proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 ... Primary immunodeficiency (SGD1) CEBPE [HSA:1053] [KO:K10051]
(SGD2) SMARCD2 [HSA:6603] [KO:K11650]
H02248 MEND syndrome MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion ... Congenital malformation EBP [HSA:10682] [KO:K01824]
H02410 Myelodysplastic/myeloproliferative neoplasms Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... Cancer DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
H02412 Atypical chronic myeloid leukemia Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... Cancer SETBP1 (mutation) [HSA:26040] [KO:K23217]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CSF3R (mutation) [HSA:1441] [KO:K05061]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
ETNK1 (mutation) [HSA:55500] [KO:K00894]
TET2 (mutation) [HSA:54790] [KO:K24309]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
EZH2 (mutation) [HSA:2146] [KO:K11430]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CBL (mutation) [HSA:867] [KO:K04707]
FLT3 (mutation) [HSA:2322] [KO:K05092]
CEBPA (mutation) [HSA:1050] [KO:K09055]
IDH2 (mutation) [HSA:3418] [KO:K00031]
H02516 Alcoholic liver disease ... acid oxidation and export via ACC and CPT-1. The blockade of AMPK also leads to overexpression of SREBP-1, resulting in an increase of de novo lipogenesis. Moreover, excessive intracellular ROS production ... Digestive system disease hsa04936 Alcoholic liver disease
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