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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]
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]
H00012 Polycythemia vera ... disease (SMD) and other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00092 T-B-Severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... Primary immunodeficiency ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PRKDC [HSA:5591] [KO:K06642]
H00236 Congenital polycythemia
Familial erythrocytosis (ECYT) 		Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... Hematologic disease (ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT1) JAK2 [HSA:3717] [KO:K04447]
(ECYT1) SH2B3 [HSA:10019] [KO:K12459]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
(ECYT5) EPO [HSA:2056] [KO:K05437]
(ECYT6) HBB [HSA:3043] [KO:K13823]
(ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
(ECYT8) BPGM [HSA:669] [KO:K01837]
H00831 Primary dystonia Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... Nervous system disease (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H01128 Reticular dysgenesis ... birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2). Immune system disease AK2 [HSA:204] [KO:K00939]
H01433 Budd-Chiari syndrome ... a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome. Digestive system disease F5 [HSA:2153] [KO:K03902]
JAK2 [HSA:3717] [KO:K04447]
H01605 Myelofibrosis ... acquired mutation in the hemopoietic cells, the V617F mutation, located in the pseudokinase domain of the JAK2 gene. This mutation results in a gain of function, i.e., in the constitutive activation of the JAK-STAT ... Cancer MPL [HSA:4352] [KO:K05082]
JAK2 [HSA:3717] [KO:K04447]
CALR [HSA:811] [KO:K08057]
SH2B3 [HSA:10019] [KO:K12459]
H01612 Essential thrombocythemia
Essential thrombocytosis
Thrombocythemia 		... primary myelofibrosis (PMF) [DS:H01605]. The V617F mutation in the tyrosine pseudokinase region of the JAK2 gene is found in 50 - 60% of ET patients. This mutation produces an increased tyrosine kinase activity ... Hematologic disease (THCYT1) THPO [HSA:7066] [KO:K06854]
(THCYT1) SH2B3 [HSA:10019] [KO:K12459]
(THCYT1) CALR [HSA:811] [KO:K08057]
(THCYT2) MPL [HSA:4352] [KO:K05082]
(THCYT3) JAK2 [HSA:3717] [KO:K04447]
H02074 Knobloch syndrome Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations ... Congenital malformation (KNO1) COL18A1 [HSA:80781] [KO:K06823]
(KNO2) PAK2 [HSA:5062] [KO:K04410]
H02120 Anencephaly Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors ... Congenital malformation (ANPH1) TRIM36 [HSA:55521] [KO:K12013]
(ANPH2) NUAK2 [HSA:81788] [KO:K08800]
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]
H02411 Chronic myelomonocytic leukemia Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping ... Cancer TET2 (mutation) [HSA:54790] [KO:K24309]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
CBL (mutation) [HSA:867] [KO:K04707]
RUNX1 (mutation) [HSA:861] [KO:K08367]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
DNMT3A (mutation) [HSA:1788] [KO:K17398]
EZH2 (mutation) [HSA:2146] [KO:K11430]
TP53 (mutation) [HSA:7157] [KO:K04451]
NPM1 (mutation) [HSA:4869] [KO:K11276]
JAK2 (mutation) [HSA:3717] [KO:K04447]
FLT3 (mutation) [HSA:2322] [KO:K05092]
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]
H02457 Developmental delay, leukoencephalopathy, and neurologic decompensation ... is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis in response ... Nervous system disease (LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194]
(LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195]
1 to 15 of 15
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