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Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		... rearrangements of MLL (also known as KMT2A) at 11q23 to a diverse array of fusion partners. If none of these specific genetic abnormalities are found, the designation of "B lymphoblastic leukemia/lymphoma ... 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 		... characteristically show the translocation and aberrant expression of transcription factor oncogenes. These oncogenic transcription factors include T-cell leukaemia homeobox protein 1 (TLX1 also known as ... 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 ... necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events were observed in the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in ... 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]
H00007 Hodgkin lymphoma ... and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and histiocytic (L&H) cells in NLPHL. These cells represent only about 1% of the cellular infiltrate, while the vast majority of infiltrating ... Cancer NFKBIA [HSA:4792] [KO:K04734]
NFKBIE [HSA:4794] [KO:K05872]
REL (amplification) [HSA:5966] [KO:K09254]
FAS [HSA:355] [KO:K04390]
KLHDC8B [HSA:200942]
H00008 Burkitt lymphoma ... America are mostly EBV-negative. A third type of BL is associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that ... Cancer MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00012 Polycythemia vera ... primary myelofibrosis (PMF), chronic myeloid leukemia (CML), some types of hypereosinophilic syndrome (HES), systemic mast cell disease (SMD) and other rare disorders. Recently, a specific point mutation ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00015 Malignant pleural mesothelioma ... specific sites within chromosome arms 1p, 3p, 6q, 9p, 13q, 15q, and 22q. Furthermore, TSGs within two of these regions, i.e., p16/CDKN2A-p14ARF at 9p21 and NF2 at 22q12, are frequently altered in MMs. Mutations ... Cancer p53 (inactivation) [HSA:7157] [KO:K04451]
p16/CDKN2A (deletion) [HSA:1029] [KO:K06621]
p15/CDKN2B (deletion) [HSA:1030] [KO:K04685]
NF2 (mutation) [HSA:4771] [KO:K16684]
PDGF-A (overexpression) [HSA:5154] [KO:K04359]
PDGF-B (overexpression) [HSA:5155] [KO:K17386]
IGF-1 (expression) [HSA:3479] [KO:K05459]
IGF-R1 (expression) [HSA:3480] [KO:K05087]
H00019 Pancreatic cancer ... instability and aneuploidy. Telomere attrition and mutations in p53 and BRCA2 are likely to contribute to these phenotypes. Inactivation of the SMAD4 tumour suppressor gene leads to loss of the inhibitory influence ... 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]
H00024 Prostate cancer ... activated by amplification of the AR gene, by AR gene mutations, or by altered activity of AR coactivators. Through these mechanisms, tumor cells lead to the emergence of androgen-independent prostate cancer. 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]
H00025 Penile cancer ... activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) pathway and prostaglandin E2 synthase. These alterations have been described in both HPV-positive and -negative penile cancers. Cancer p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621]
BMI1 (overexpression) [HSA:648] [KO:K11459]
p53 (mutation) [HSA:7157] [KO:K04451]
MDM2 (overexpression) [HSA:4193] [KO:K06643]
H-ras (mutation) [HSA:3265] [KO:K02833]
c-MYC (mutation) [HSA:4609] [KO:K04377]
E-Cadherin (expression) [HSA:999] [KO:K05689]
MMP-2 (expression) [HSA:4313] [KO:K01398]
MMP-9 (expression) [HSA:4318] [KO:K01403]
COX-2 (expression) [HSA:5743] [KO:K11987]
PTGES2 (expression) [HSA:80142] [KO:K05309]
H00026 Endometrial cancer ... 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 in DNA-mismatch ... 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]
H00030 Cervical cancer ... types, particularly types 16, 18, 33 and 42. Experimental studies show that the E6 and E7 genes of these high risk HPVs are oncogenes that deregulate key cell cycle controls. The E6 and E7 oncoproteins ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
H-ras (mutation) [HSA:3265] [KO:K02833]
EGFR (amplification) [HSA:1956] [KO:K04361]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
p21 (overexpression) [HSA:1026] [KO:K06625]
CDK4 (overexpression) [HSA:1019] [KO:K02089]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
H00036 Osteosarcoma ... both the p53-binding MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A ... Cancer MDM2 (amplification) [HSA:4193] [KO:K06643]
TSPAN31 (amplification) [HSA:6302] [KO:K17356]
MYC (amplification) [HSA:4609] [KO:K04377]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
CHEK2 [HSA:11200] [KO:K06641]
H00037 Rhabdomyosarcoma ... chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion ... 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]
H00038 Melanoma ... PI3K-Akt pathway may be activated through loss or mutation of the inhibitory tumor suppressor gene PTEN. These mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression ... Cancer hsa05218 Melanoma (CMM2) CDKN2A [HSA:1029] [KO:K06621]
(CMM3) CDK4 [HSA:1019] [KO:K02089]
(CMM5) MC1R [HSA:4157] [KO:K04199]
(CMM6) XRCC3 [HSA:7517] [KO:K10880]
(CMM8) MITF (amplification) [HSA:4286] [KO:K09455]
(CMM9) TERT [HSA:7015] [KO:K11126]
(CMM10) POT1 [HSA:25913] [KO:K11109]
BRAF [HSA:673] [KO:K04365]
STK11 [HSA:6794] [KO:K07298]
NRAS [HSA:4893] [KO:K07828]
PTEN [HSA:5728] [KO:K01110]
TP53 [HSA:7157] [KO:K04451]
H00041 Kaposi sarcoma ... associated with the long-lasting expression of HHV8 latency genes (LANA, v-cyc D, v-FLIP, Kaposin). All these genes are, in fact, expressed or altered in most KS spindle cells in the nodular-late stage of KS ... 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]
H00043 Neuroblastoma ... childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These ... Cancer MYCN (normal/amplified) [HSA:4613] [KO:K09109]
NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
(NBLST1) KIF1B [HSA:23095] [KO:K10392]
(NBLST2) PHOX2B [HSA:8929] [KO:K09330]
(NBLST3) ALK [HSA:238] [KO:K05119]
H00046 Cholangiocarcinoma ... cholangiocarcinoma). Several studies have demonstrated mutations resulting in overexpression of K-ras and p53 genes. These genetic alterations are associated with a more aggressive phenotype in this cancer. Many reports ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
p53 (mutation) [HSA:7157] [KO:K04451]
c-Met (overexpression) [HSA:4233] [KO:K05099]
ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
COX2 (overexpression) [HSA:5743] [KO:K11987]
H00052 Clear cell sarcoma of soft tissue ... States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the translocation t(12;22)(q13;q12). This translocation rearranges the ... Cancer EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
H00053 Extraskeletal myxoid chondrosarcoma ... TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be ... Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00055 Laryngeal cancer ... squamous cell carcinoma (LSCC). Although tumor suppressor inactivation of p53 and p16 is common in these tumors (about 50% each), oncogenic activation is less well characterized. Cyclin D1 and epidermal ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
EGFR (amplification) [HSA:1956] [KO:K04361]
c-MYC (amplification) [HSA:4609] [KO:K04377]
Cyclin E (amplification) [HSA:898 9134] [KO:K06626]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		... have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2), and ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00057 Parkinson disease ... familial PD-linked genes such as SNCA, Parkin, DJ-1, PINK1 and LRRK2 are associated with PD pathogenesis. These pathogenic mutations and environmental factors are known to cause disease due to oxidative stress ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00061 Prion disease
Creutzfeldt-Jacob disease (CJD)
Gerstmann-Straussler disease (GSD)
Gerstmann-Straussler-Scheinker disease (GSSD)
Fatal familial insomnia (FFI) 		... neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious ... Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00069 Glycogen storage disease ... glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease. Inherited metabolic disorder (GSD1A) G6PC1 [HSA:2538] [KO:K01084]
(GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
(GSD2) GAA [HSA:2548] [KO:K12316]
(GSD3) AGL [HSA:178] [KO:K01196]
(GSD4) GBE1 [HSA:2632] [KO:K00700]
(GSD5) PYGM [HSA:5837] [KO:K00688]
(GSD6) PYGL [HSA:5836] [KO:K00688]
(GSD7) PFKM [HSA:5213] [KO:K00850]
(GSD9A) PHKA2 [HSA:5256] [KO:K07190]
(GSD9B) PHKB [HSA:5257] [KO:K07190]
(GSD9C) PHKG2 [HSA:5261] [KO:K00871]
(GSD9D) PHKA1 [HSA:5255] [KO:K07190]
(GSD10) PGAM2 [HSA:5224] [KO:K01834]
(GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
(GSD11) LDHA [HSA:3939] [KO:K00016]
(GSD12) ALDOA [HSA:226] [KO:K01623]
(GSD13) ENO3 [HSA:2027] [KO:K01689]
(GSD14) PGM1 [HSA:5236] [KO:K01835]
(GSD15) GYG1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2 [HSA:51422] [KO:K07200]
(GSD0A) GYS2 [HSA:2998] [KO:K00693]
(GSD0B) GYS1 [HSA:2997] [KO:K00693]
H00072 Pyruvate dehydrogenase complex deficiency ... activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex ... 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]
H00075 Refsum disease
Heredopathia atactica polyneuritiformis 		... peroxisomal matrix protein receptor. Though PEX7 has been identified another responsible gene, there still remain a small number of patients in whom no mutations in either of these two genes can be found. Inherited metabolic disorder, Peroxisomal disease PHYH [HSA:5264] [KO:K00477]
PEX7 [HSA:5191] [KO:K13341]
H00081 Hashimoto thyroiditis ... combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00082 Graves disease ... combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies ... Immune system disease
H00086 Hyper IgM syndromes, autosomal recessive type ... autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell development ... Immune system disease (HIGM1) CD40LG [HSA:959] [KO:K03161]
(HIGM2) AICDA [HSA:57379] [KO:K10989]
(HIGM3) CD40 [HSA:958] [KO:K03160]
(HIGM5) UNG [HSA:7374] [KO:K03648]
H00094 Immunodeficiency associated with DNA repair defects ... that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely ... 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 ... hair and rare conical teeth. Patients with EDA and immunodeficiency (EDA-ID) present some or all of these features, together with severe infectious diseases. EDA-ID principally affects boys, suggesting ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00098 Chronic granulomatous disease ... impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH ... Primary immunodeficiency (CGDX) CYBB [HSA:1536] [KO:K21421]
(CGD1) NCF1 [HSA:653361] [KO:K08011]
(CGD3) NCF2 [HSA:4688] [KO:K08010]
(CGD3) NCF4 [HSA:4689] [KO:K08012]
(CGD4) CYBA [HSA:1535] [KO:K08009]
(CGD5) CYBC1 [HSA:79415] [KO:K25863]
H00099 Leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00100 Neutropenic disorders ... Kostmann syndrome can be explained by the deletion of an anti-apoptotic factor (HAX-1) in myeloid cells of these patients. Heterozygous mutations in the protooncogene growth factor-independent 1 (GFI1) gene are ... Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
H00105 Mannose-binding lectin pathway component defects
Lectin complement activation pathway, defect in (LCAPD) 		... immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 ... Primary immunodeficiency (LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]
H00118 Congenital disorders of glycosylation type I ... glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves disrupted synthesis ... Inherited metabolic disorder (CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
(CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
(CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]
H00119 Congenital disorders of glycosylation type II ... glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing of N-glycans on the ... Inherited metabolic disorder (CDG2A) MGAT2 [HSA:4247] [KO:K00736]
(CDG2B) GCS1 [HSA:7841] [KO:K01228]
(CDG2C) SLC35C1 [HSA:55343] [KO:K15279]
(CDG2D) B4GALT1 [HSA:2683] [KO:K07966]
(CDG2E) COG7 [HSA:91949] [KO:K20294]
(CDG2F) SLC35A1 [HSA:10559] [KO:K15272]
(CDG2G) COG1 [HSA:9382] [KO:K20288]
(CDG2H) COG8 [HSA:84342] [KO:K20295]
(CDG2I) COG5 [HSA:10466] [KO:K20292]
(CDG2J) COG4 [HSA:25839] [KO:K20291]
(CDG2K) TMEM165 [HSA:55858] [KO:K23541]
(CDG2L) COG6 [HSA:57511] [KO:K20293]
(CDG2M) SLC35A2 [HSA:7355] [KO:K15272]
(CDG2N) SLC39A8 [HSA:64116] [KO:K14714]
(CDG2O) CCDC115 [HSA:84317] [KO:K23543]
(CDG2P) TMEM199 [HSA:147007] [KO:K23542]
(CDG2Q) COG2 [HSA:22796] [KO:K20289]
(CDG2R) ATP6AP2 [HSA:10159] [KO:K19514]
(CDG2S) ATP6AP1 [HSA:537] [KO:K03662]
(CDG2T) GALNT2 [HSA:2590] [KO:K00710]
(CDG2V) EDEM3 [HSA:80267] [KO:K10086]
(CDG2W) SLC37A4 [HSA:2542] [KO:K08171]
(CDG2Y) GET4 [HSA:51608] [KO:K23387]
(CDG2Z) CAMLG [HSA:819] [KO:K22385]
(CDG2AA) STX5 [HSA:6811] [KO:K08490]
(CDG2BB) COG3 [HSA:83548] [KO:K20290]
H00120 Muscular dystrophy-dystroglycanopathy type A ... syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00143 Mucolipidosis II
I-cell disease 		... enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes. Inherited metabolic disorder, Lysosomal disease GNPTAB [HSA:79158] [KO:K08239]
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