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Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... 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]
H00002 T-cell acute lymphoblastic leukemia
T-cell acute lymphocytic leukemia 		Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... Cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [KO:K09068]
TAL2 [HSA:6887] [KO:K09068]
LYL1 (expression) [HSA:4066] [KO:K15604]
MLL-ENL (translocation) [HSA:4297] [KO:K09186]
HOX11 (translocation) [HSA:3195] [KO:K09340]
MYC (translocation) [HSA:4609] [KO:K04377]
LMO2 (translocation) [HSA:4005] [KO:K15612]
HOX11L2 (translocation) [HSA:30012] [KO:K15607]
PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588]
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]
H00004 Chronic myeloid leukemia Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP) ... Cancer hsa05220 Chronic myeloid leukemia BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
MECOM (overexpression) [HSA:2122] [KO:K04462]
RUNX1 (translocation) [HSA:861] [KO:K08367]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
H00005 Chronic lymphocytic leukemia ... features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best characterized genes are TP53 (also known as p53) and ATM, for which mutations and/or ... Cancer Bcl-2 (overexpression) [HSA:596] [KO:K02161]
p53 (mutation) [HSA:7157] [KO:K04451]
ATM (germline and somatic mutation) [HSA:472] [KO:K04728]
Fas (absent) [HSA:355] [KO:K04390]
H00006 Hairy cell leukemia Hairy cell Leukemia (HCL) is a chronic lymphoproliferative disorder that is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
Bcl-6 (mutation) [HSA:604] [KO:K15618]
Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
H00008 Burkitt lymphoma ... of BL that contributes to lymphomagenesis through alterations in cell cycle regulation, cellular differentiation, apoptosis, cellular adhesion, and metabolism. Many BL carry point mutation in the p53 tumor ... Cancer MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00009 Adult T-cell leukemia ... mechanisms, including upregulating the expression of cellular genes involved in T cell growth and proliferation, including IL-2, IL-2R-alpha, and IL-15. However, ATL cells do not always need Tax expression ... Cancer; Viral infectious disease hsa05166 Human T-cell leukemia virus 1 infection p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621]
Fas (mutation) [HSA:355] [KO:K04390]
H00011 Lymphoplasmacytic lymphoma ... PAX-5 gene which encodes a B-cell specific transcription factor involved in the control of B-cell proliferation and differentiation. The translocation causes the juxtaposition of the PAX-5 gene to the IgH ... Cancer Pax5-IgH (translocation) [HSA:5079] [KO:K09383]
H00012 Polycythemia vera Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00013 Small cell lung cancer ... proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid ... Cancer hsa05222 Small cell lung cancer MYC (amplification) [HSA:4609] [KO:K04377]
BCL2 (overexpression) [HSA:596] [KO:K02161]
FHIT [HSA:2272] [KO:K01522]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
PTEN [HSA:5728] [KO:K01110]
PPP2R1B [HSA:5519] [KO:K03456]
H00014 Non-small cell lung cancer ... continuously transmits growth signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK fusion leads to constitutive ALK activation, which causes cell proliferation ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00016 Oral cancer Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations ... Cancer p53 (mutation, deletion) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621]
EGFR (overexpression) [HSA:1956] [KO:K04361]
c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377]
N-ras (amplification) [HSA:4893] [KO:K07828]
K-ras (amplification) [HSA:3845] [KO:K07827]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
STAT-3 (expression) [HSA:6774] [KO:K04692]
H00019 Pancreatic cancer ... common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA). Normal duct epithelium progresses to infiltrating ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00023 Testicular cancer ... testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: teratomas and yolk sac tumors of newborns and infants, ... Cancer CCND2 (amplification) [HSA:894] [KO:K10151]
FGFR3 [HSA:2261] [KO:K05094]
KIT [HSA:3815] [KO:K05091]
STK11 [HSA:6794] [KO:K07298]
H00024 Prostate cancer ... androgens (AR) as critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1 ... Cancer hsa05215 Prostate cancer AR (amplification, mutation) [HSA:367] [KO:K08557]
CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
PTEN (allelic loss) [HSA:5728] [KO:K01110]
GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]
H00026 Endometrial cancer ... endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects ... Cancer hsa05213 Endometrial cancer ERBB2 (amplification) [HSA:2064] [KO:K05083]
PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110]
MLH1 (mutation, methylation) [HSA:4292] [KO:K08734]
KRAS [HSA:3845] [KO:K07827]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
MSH3 [HSA:4437] [KO:K08736]
CDH1 [HSA:999] [KO:K05689]
H00029 Vulvar cancer ... common type of vulvar cancer and is observed in 80% to 90% of cases. There are at least two quite different types of SCC of the vulva. The less common, accounting for about one-third of cases, occurs in ... Cancer PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
H00031 Breast cancer ... HER2 activates the PI3K/AKT and the RAS/RAF/MAPK pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch ... Cancer hsa05224 Breast cancer BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 [HSA:675] [KO:K08775]
BARD1 [HSA:580] [KO:K10683]
BRIP1 [HSA:83990] [KO:K15362]
PALB2 [HSA:79728] [KO:K10897]
RAD51 [HSA:5888] [KO:K04482]
RAD54L [HSA:8438] [KO:K10875]
XRCC3 [HSA:7517] [KO:K10880]
ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
ESR1/ER1 [HSA:2099] [KO:K08550]
PGR [HSA:5241] [KO:K08556]
GATA3 [HSA:2625] [KO:K17895]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
SLC22A18 [HSA:5002] [KO:K08214]
PTEN [HSA:5728] [KO:K01110]
EGFR (overexpression) [HSA:1956] [KO:K04361]
KIT (overexpression) [HSA:3815] [KO:K05091]
NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
LRP6 (overexpression) [HSA:4040] [KO:K03068]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
CCND1 (amplification) [HSA:595] [KO:K04503]
H00032 Thyroid cancer ... carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular carcinomas (PTC and FTC, respectively) to the extremely aggressive ... Cancer hsa05216 Thyroid cancer RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288]
RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289]
TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290]
TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290]
TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290]
PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530]
KRAS [HSA:3845] [KO:K07827]
HRAS [HSA:3265] [KO:K02833]
NRAS [HSA:4893] [KO:K07828]
BRAF [HSA:673] [KO:K04365]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
CDH1 [HSA:999] [KO:K05689]
MINPP1 [HSA:9562] [KO:K03103]
(NMTC1) NKX2-1 [HSA:7080] [KO:K09342]
(NMTC2) SRGAP1 [HSA:57522] [KO:K07526]
(NMTC4) FOXE1 [HSA:2304] [KO:K09398]
(NMTC5) HABP2 [HSA:3026] [KO:K08648]
H00033 Adrenal carcinoma ... rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH receptor gene have recently been found in undifferentiated adenomas and in aggressive ACCs. Cancer ACTH-R (deletion) [HSA:4158] [KO:K04200]
GNAI2 (mutation) [HSA:2771] [KO:K04630]
N-ras (mutation) [HSA:4893] [KO:K07828]
IGF II (overexpression) [HSA:3481] [KO:K13769]
p53 (LOH, mutation) [HSA:7157] [KO:K04451]
p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]
H00037 Rhabdomyosarcoma ... function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways. Cancer PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
SLC22A18 [HSA:5002] [KO:K08214]
DICER1 [HSA:23405] [KO:K11592]
H00039 Basal cell carcinoma ... result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC. Cancer hsa05217 Basal cell carcinoma (BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
H00041 Kaposi sarcoma Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, they share the same histological traits and are all ... Cancer; Viral infectious disease hsa05167 Kaposi sarcoma-associated herpesvirus infection BCL2 (overexpression) [HSA:596] [KO:K02161]
MYC (overexpression) [HSA:4609] [KO:K04377]
FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358]
KRAS (overexpression, mutation) [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
H00047 Gallbladder cancer ... its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology. Two main pathways of GBC pathogenesis have been identified. The ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
K-ras (mutation) [HSA:3845] [KO:K07827]
APC (mutation) [HSA:324] [KO:K02085]
H00049 Myxoid liposarcoma ... of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts ... Cancer FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]
H00050 Synovial sarcoma ... is found in more than 90% of reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints of the t(X; 18) have been cloned and shown to involve the fusion ... Cancer SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
IGF-IR (overexpression) [HSA:3480] [KO:K05087]
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		... mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease ... Neurodegenerative disease hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00072 Pyruvate dehydrogenase complex deficiency ... malformations. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00074 Canavan disease ... alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse. Inherited metabolic disorder ASPA [HSA:443] [KO:K01437]
H00079 Asthma ... (APC) that line the airway. Upon recognition of the antigen and activation by APC, naive T cells differentiate into TH2 cells. Activated TH2 stimulate the formation of IgE by B cells. IgE molecules bind ... Immune system disease hsa05310 Asthma IL4 [HSA:3565] [KO:K05430]
IL4RA [HSA:3566] [KO:K05071]
IL13 [HSA:3596] [KO:K05435]
FCER1B [HSA:2206] [KO:K08090]
TNFA [HSA:7124] [KO:K03156]
ADAM33 [HSA:80332] [KO:K08616]
CD14 [HSA:929] [KO:K04391]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-G [HSA:3135] [KO:K06751]
ADRB2 [HSA:154] [KO:K04142]
ALOX5 [HSA:240] [KO:K00461]
CCL11 [HSA:6356] [KO:K16597]
MUC7 [HSA:4589] [KO:K13909]
PLA2G7 [HSA:7941] [KO:K01062]
SCGB3A2 [HSA:117156] [KO:K25469]
(ASRT1) PTGDR [HSA:5729] [KO:K04332]
(ASRT2) NPSR1 [HSA:387129] [KO:K08376]
(ASRT5) IRAK3 [HSA:11213] [KO:K04732]
(ASRT7) CHI3L1 [HSA:1116] [KO:K17523]
H00085 Agammaglobulinemias ... or absent B cells in the peripheral circulation, and (in the bone marrow) a severe block in B cell differentiation before the production of surface immunoglobulin-positive B cells. Mutations in Btk, the ... Immune system disease (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00087 Other humoral immunodeficiencies ... (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ... Primary immunodeficiency (IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
H00090 NK cell defects ... with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found ... Primary immunodeficiency FCGR3A [HSA:2214] [KO:K06463]
H00091 T-B+Severe combined immunodeficiency ... (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00092 T-B-Severe combined immunodeficiency ... (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine ... 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]
H00094 Immunodeficiency associated with DNA repair defects ... point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change ... Primary immunodeficiency ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
MCM4 [HSA:4173] [KO:K02212]
(LICS) NSMCE3 [HSA:56160] [KO:K22823]
H00095 Ectodermal dysplasia and immunodeficiency Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00096 Defects of toll-like receptor signaling ... immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR and ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
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