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Entry Name Description Category Pathway Gene
H00002 T-cell acute lymphoblastic leukemia
T-cell acute lymphocytic leukemia
... development. In this context, constitutive activation of NOTCH1 signaling is the most prominent oncogenic pathway in T cell transformation. In addition, T-ALLs characteristically show the translocation and aberrant ... Cancer hsa05202 Transcriptional misregulation in cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [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]
H00007 Hodgkin lymphoma ... HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major pathogenetic mechanism in Hodgkin's lymphoma. The NF-{kappa}B activity ... Cancer hsa05202 Transcriptional misregulation in cancer
hsa05203 Viral carcinogenesis
hsa05169 Epstein-Barr virus infection
IKBA (mutation) [HSA:4792] [KO:K04734]
IKBE (mutation) [HSA:4794] [KO:K05872]
c-rel (amplification) [HSA:5966] [KO:K09254]
CD95 (mutation) [HSA:355] [KO:K04390]
H00008 Burkitt lymphoma ... BL carry point mutation in the p53 tumor suppressor gene or other defects in the p14ARF-MDM2-p53 pathway, and inactivation of the p16INK4a gene by promoter methylation or homozygous deletion. This indicates ... Cancer hsa05203 Viral carcinogenesis
hsa05169 Epstein-Barr virus infection
MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
H00019 Pancreatic cancer ... inactivation of p53, SMAD4, and BRCA2 occur relatively late. Activated K-ras engages multiple effector pathways. Although EGF receptors are conventionally regarded as upstream activators of RAS proteins, they ... Cancer hsa05212 Pancreatic cancer K-ras (mutation) [HSA:3845] [KO:K07827]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
p16/INK4A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
p53 (mutation) [HSA:7157] [KO:K04451]
SMAD4 (mutation) [HSA:4089] [KO:K04501]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
STK11 (germline mutation) [HSA:6794] [KO:K07298]
H00022 Bladder cancer ... only approximately 7% of the total. Urothelial tumours arise and evolve through divergent phenotypic pathways. Some tumours progress from urothelial hyperplasia to low-grade non-invasive superficial papillary ... Cancer hsa05219 Bladder cancer
hsa05206 MicroRNAs in cancer
H-ras (activating mutation) [HSA:3265] [KO:K02833]
FGFR3 (activating mutation) [HSA:2261] [KO:K05094]
p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621]
p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451]
RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618]
EGFR (overexpression) [HSA:1956] [KO:K04361]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
RASSF1 (hypermethylation) [HSA:11186] [KO:K09850]
DAPK1 (hypermethylation) [HSA:1612] [KO:K08803]
H00024 Prostate cancer ... alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype of prostate-cancer ... Cancer hsa05215 Prostate cancer
hsa05202 Transcriptional misregulation in cancer
hsa05206 MicroRNAs in 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]
H00025 Penile cancer ... subdivided into human papilloma virus (HPV) positive and HPV negative cases. Most common disrupted pathways, both in HPV-mediated and HPV-independent penile carcinogenesis, involve the p14ARF/MDM2/p53 and/or ... Cancer hsa05203 Viral carcinogenesis 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]
H00028 Choriocarcinoma ... been done to establish the expression of tumor-associated proteins in choriocarcinoma. In the p53 pathway, overexpression of the p53 protein and the p53-associated protein, MDM2, have been detected. Synergistic ... Cancer p53 (overexpression) [HSA:7157] [KO:K04451]
MdM2 (overexpression) [HSA:4193] [KO:K06643]
EGFR (overexpression) [HSA:1956] [KO:K04361]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
c-FMS (overexpression) [HSA:1436] [KO:K05090]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
MMP-1 (overexpression) [HSA:4312] [KO:K01388]
MMP-2 (overexpression) [HSA:4313] [KO:K01398]
H00031 Breast cancer ... cancers (TNBCs)). Hormone receptor positive breast cancers are largely driven by the estrogen/ER pathway. In HER2 positive breast tumours, HER2 activates the PI3K/AKT and the RAS/RAF/MAPK pathways, and ... Cancer hsa05224 Breast cancer
hsa05206 MicroRNAs in cancer
ESR1 (positive) [HSA:2099] [KO:K08550]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
CCND1 (amplification) [HSA:595] [KO:K04503]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
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]
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
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 hsa05202 Transcriptional misregulation in cancer PAX3-FOXO1A (translocation) [HSA:2308] [KO:K07201]
PAX7-FOXO1A (translocation) [HSA:2308] [KO:K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
ATR (amplification) [HSA:545] [KO:K06640]
H00038 Melanoma ... Melanoma pathogenesis is also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-ERK and PI3K-Akt. The Raf-MEK-ERK pathway may also be activated via mutations in the BRAF ... Cancer hsa05218 Melanoma BRAF (mutation) [HSA:673] [KO:K04365]
NRAS (mutation) [HSA:4893] [KO:K07828]
CDK4 (mutation) [HSA:1019] [KO:K02089]
MITF (amplification) [HSA:4286] [KO:K09455]
PTEN (deletion, germline mutation, somatic mutation, LOH) [HSA:5728] [KO:K01110]
p16/INK4A (loss/mutation) [HSA:1029] [KO:K06621]
p53 (loss/mutation) [HSA:7157] [KO:K04451]
H00042 Glioma ... as p53 mutations (65%) and loss of Rb playing major roles in such transformations. Loss of PTEN has been implicated in both pathways, although it is much more common in the pathogenesis of primary GBM. Cancer hsa05214 Glioma
hsa05206 MicroRNAs in cancer
EGFR (amplification, mutation, overexpression) [HSA:1956] [KO:K04361]
MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643]
PTEN (mutation) [HSA:5728] [KO:K01110]
p16/INK4A (deletion) [HSA:1029] [KO:K06621]
PDGF-A (overexpression) [HSA:5154] [KO:K04359]
PDGF-B (overexpression) [HSA:5155] [KO:K17386]
PDGFR-alpha (overexpression, amplification) [HSA:5156] [KO:K04363]
PDGFR-beta (overexpression, amplification) [HSA:5159] [KO:K05089]
CDK4 (amplification) [HSA:1019] [KO:K02089]
p53 (mutation) [HSA:7157] [KO:K04451]
RB1 (loss) [HSA:5925] [KO:K06618]
H00045 Pancreatic neuroendocrine tumor ... DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1 ... Cancer MEN1 (mutation) [HSA:4221] [KO:K14970]
DAXX (mutation) [HSA:1616] [KO:K02308]
ATRX (mutation) [HSA:546] [KO:K10779]
H00047 Gallbladder cancer ... survival rate. There are considerable geographic differences in its incidence and etiology. Two main pathways of GBC pathogenesis have been identified. The most common is associated with gallstones and chronic ... 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]
H00048 Hepatocellular carcinoma
Liver cancer
... signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) ... Cancer hsa05225 Hepatocellular carcinoma
hsa05203 Viral carcinogenesis
hsa05161 Hepatitis B
hsa05160 Hepatitis C
hsa05206 MicroRNAs in cancer
TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
TERT (overexpression) [HSA:7015] [KO:K11126]
TP53 (mutation) [HSA:7157] [KO:K04451]
p16 (deletion) [HSA:1029] [KO:K06621]
PTEN (mutation) [HSA:5728] [KO:K01110]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
CTNNB1 (mutation) [HSA:1499] [KO:K02105]
AXIN1 (mutation) [HSA:8312] [KO:K02157]
KEAP1 (mutation) [HSA:9817] [KO:K10456]
NFE2L2 (mutation) [HSA:4780] [KO:K05638]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
ARID1A (mutation) [HSA:8289] [KO:K11653]
ARID2 (mutation) [HSA:196528] [KO:K11765]
H00053 Extraskeletal myxoid chondrosarcoma ... been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation. Cancer hsa05202 Transcriptional misregulation in cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00054 Nasopharyngeal cancer ... as Ras association domain family 1A (RASSF1A), p16/INK4A, p14/ARF suggest that multiple cellular pathways were dysregulated in the NPC cells. Studies on the precancerous lesions revealed early genetic ... Cancer hsa05203 Viral carcinogenesis
hsa05169 Epstein-Barr virus infection
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
p16/INK4A (promoter hypermethylation) [HSA:1029] [KO:K06621]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198]
TSLC1 (promoter hypermethylation) [HSA:23705] [KO:K06781]
E-cadherin (decreased expression) [HSA:999] [KO:K05689]
H00057 Parkinson disease ... is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively. Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (mutation/duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) Parkin (mutation, genomic rearrangement) [HSA:5071] [KO:K04556]
(PARK5) UCHL1 (mutation) [HSA:7345] [KO:K05611]
(PARK6) PINK1 (mutation) [HSA:65018] [KO:K05688]
(PARK7) DJ1 (mutation) [HSA:11315] [KO:K05687]
(PARK8) LRRK2 (mutation) [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 (mutation) [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 (mutation) [HSA:26058] [KO:K18730]
(PARK13) HTRA2 (mutation) [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 (mutation) [HSA:8398] [KO:K16343]
(PARK15) FBXO7 (mutation) [HSA:25793] [KO:K10293]
(PARK17) VPS35 (mutation) [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 (mutation) [HSA:1981] [KO:K03260]
(PARK19) DNAJC16 (mutation) [HSA:23341] [KO:K09536]
(PARK22) CHCHD2 (mutation) [HSA:51142] [KO:K22758]
NR4A2 (mutation) [HSA:4929] [KO:K08558]
H00061 Prion disease
Creutzfeldt-Jacob disease (CJD)
Gerstmann-Straussler disease (GSD)
Gerstmann-Straussler-Scheinker disease (GSSD)
Fatal familial insomnia (FFI)
... resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ... Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00069 Glycogen storage disease Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... Inherited metabolic disease hsa00010 Glycolysis / Gluconeogenesis
hsa00500 Starch and sucrose metabolism
hsa04910 Insulin signaling pathway
(GSD Ia) G6PC; glucose-6-phosphatase [HSA:2538] [KO:K01084]
(GSD Ib/Ic) SLC37A4; glucose-6P transporter [HSA:2542] [KO:K08171]
(GSD II) GAA; alpha-glucosidase [HSA:2548] [KO:K12316]
(GSD III) AGL; amylo-1,6-glucosidase [HSA:178] [KO:K01196]
(GSD IV) GBE1; 1,4-alpha-glucan branching enzyme [HSA:2632] [KO:K00700]
(GSD V) PYGM; glycogen phosphorylase, muscle [HSA:5837] [KO:K00688]
(GSD VI) PYGL; glycogen phosphorylase, liver [HSA:5836] [KO:K00688]
(GSD VII) PFKM; phosphofructokinase, muscle [HSA:5213] [KO:K00850]
(GSD IXa) PHKA2; phosphorylase kinase alpha subunit, liver [HSA:5256] [KO:K07190]
(GSD IXb) PHKB; phosphorylase kinase beta subunit [HSA:5257] [KO:K07190]
(GSD IXc) PHKG2; phosphorylase kinase gamma subunit, liver [HSA:5261] [KO:K00871]
(GSD IXd) PHKA1; phosphorylase kinase alpha subunit, muscle [HSA:5255] [KO:K07190]
(GSD X) PGAM2; 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase [HSA:5224] [KO:K01834]
(GSD XI/FBS) SLC2A2; glucose transporter [HSA:6514] [KO:K07593]
(GSD XI) LDHA; lactate dehydrogenase A [HSA:3939] [KO:K00016]
(GSD XII) ALDOA; fructose-bisphosphate aldolase A [HSA:226] [KO:K01623]
(GSD XIII) ENO3; beta-enolase [HSA:2027] [KO:K01689]
(GSD XIV) PGM1; phosphoglucomutase-1 [HSA:5236] [KO:K01835]
(GSD XV) GYG1; glycogenin-1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2; 5'-AMP-activated protein kinase subunit gamma-2 [HSA:51422] [KO:K07200]
(GSD 0a) GYS2; glycogen synthase, liver [HSA:2998] [KO:K00693]
(GSD 0b) GYS1; glycogen synthase, muscle [HSA:2997] [KO:K00693]
H00078 Frontotemporal lobar degeneration Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated ... Neurodegenerative disease hsa04010 MAPK signaling pathway
hsa04141 Protein processing in endoplasmic reticulum
hsa04144 Endocytosis
hsa04310 Wnt signaling pathway
hsa04330 Notch signaling pathway
hsa04722 Neurotrophin signaling pathway
(Pick disease/ FTD/ PSNP1) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(UP-FTD) GRN [HSA:2896] [KO:K23879]
(IBMPFD) VCP [HSA:7415] [KO:K13525]
(FTD3) CHMP2B [HSA:25978] [KO:K12192]
H00083 Allograft rejection ... nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen presentation. In the direct pathway, recipient T cells react to intact allogeneic MHC ... Immune system disease hsa05330 Allograft rejection TNF-alpha (polymorphism) [HSA:7124] [KO:K03156]
IL-10 (polymorphism) [HSA:3586] [KO:K05443]
TGF-beta (polymorphism) [HSA:7040 7042 7043] [KO:K13375 K13376 K13377]
IFN-gamma (polymorphism) [HSA:3458] [KO:K04687]
HLA-DMA (polymorphism) [HSA:3108] [KO:K06752]
ICAM-1 (polymorphism) [HSA:3383] [KO:K06490]
CTLA4 (polymorphism) [HSA:1493] [KO:K06538]
ACE (polymorphism) [HSA:1636] [KO:K01283]
GPIIIA (polymorphism) [HSA:3690] [KO:K06493]
H00096 Defects of toll-like receptor signaling ... 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 IL-1R receptors ... Primary immunodeficiency hsa04620 Toll-like receptor signaling pathway IRAK4 [HSA:51135] [KO:K04733]
H00101 Other phagocyte defects ... neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine ... Primary immunodeficiency CHS1 [HSA:1130] [KO:K22937]
MYO5A [HSA:4644] [KO:K10357]
RAB27A [HSA:5873] [KO:K07885]
MLPH [HSA:79083] [KO:K22235]
ACTB [HSA:60] [KO:K05692]
CEBPE [HSA:1053] [KO:K10051]
MPO [HSA:4353] [KO:K10789]
G6PD [HSA:2539] [KO:K00036]
SBDS [HSA:51119] [KO:K14574]
H00102 Classic complement pathway component defects ... result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways of the complement response. Defects in the classic pathway account for the more common type of ... Primary immunodeficiency hsa04610 Complement and coagulation cascades C1QA [HSA:712] [KO:K03986]
C1QB [HSA:713] [KO:K03987]
C1QG [HSA:714] [KO:K03988]
C1R [HSA:715] [KO:K01330]
C1S [HSA:716] [KO:K01331]
C2 [HSA:717] [KO:K01332]
C3 [HSA:718] [KO:K03990]
C4A [HSA:720] [KO:K03989]
C4B [HSA:721] [KO:K03989]
H00103 Late complement pathway defects Late complement component (the final common pathway C5b-C9 components) deficiencies are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced ... Primary immunodeficiency hsa04610 Complement and coagulation cascades C5 [HSA:727] [KO:K03994]
C6 [HSA:729] [KO:K03995]
C7 [HSA:730] [KO:K03996]
C8 alpha [HSA:731] [KO:K03997]
C8 beta [HSA:732] [KO:K03998]
C8 gamma [HSA:733] [KO:K03999]
C9 [HSA:735] [KO:K04000]
H00104 Alternative complement pathway component defects The alternative pathway is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by factor ... Primary immunodeficiency hsa04610 Complement and coagulation cascades BF [HSA:629] [KO:K01335]
DF [HSA:1675] [KO:K01334]
HF1 [HSA:3075] [KO:K04004]
PFC [HSA:5199] [KO:K15412]
H00105 Mannose-binding lectin pathway component defects There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune ... Primary immunodeficiency hsa04610 Complement and coagulation cascades MBL2 [HSA:4153] [KO:K03991]
MASP2 [HSA:10747] [KO:K03993]
H00144 Mucolipidosis IV ... gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes ... Inherited metabolic disease; Nervous system disease; Lysosomal storage disease hsa04142 Lysosome MCOLN1; mucolipin 1 [HSA:57192] [KO:K04992]
H00151 Cerebrotendinous xanthomatosis
Van Bogaert-Scherer-Epstein Disease
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly ... Inherited metabolic disease; Connective tissue disease hsa00120 Primary bile acid biosynthesis
hsa03320 PPAR signaling pathway
CYP27A1 [HSA:1593] [KO:K00488]
H00154 Hyperlipoproteinemia, type I Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ... Inherited metabolic disease; Cardiovascular disease hsa00561 Glycerolipid metabolism
hsa03320 PPAR signaling pathway
LPL; lipoprotein lipase [HSA:4023] [KO:K01059]
APOC2; apolipoprotein C-II [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
H00157 Hyperlipoproteinemia, type V Type V hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of apolipoprotein A-V and characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the ... Inherited metabolic disease hsa03320 PPAR signaling pathway APOA5; apolipoprotein A-V [HSA:116519] [KO:K09025]
H00190 Hyperprolinemia ... two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase ... Inherited metabolic disease; Nervous system disease hsa00330 Arginine and proline metabolism (HP1) PRODH; proline dehydrogenase [HSA:5625] [KO:K00318]
(HP2) ALDH4A1; 1-pyrroline-5-carboxylate dehydrogenase [HSA:8659] [KO:K00294]
H00196 Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Inherited metabolic disease; Nervous system disease hsa00030 Pentose phosphate pathway
hsa00230 Purine metabolism
PRPS1; phosphoribosylpyrophosphate synthetase [HSA:5631] [KO:K00948]
H00197 Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures. Inherited metabolic disease; Nervous system disease hsa00230 Purine metabolism
hsa00250 Alanine, aspartate and glutamate metabolism
ADSL; adenylosuccinate lyase [HSA:158] [KO:K01756]
H00202 Hepatic porphyria Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic Congenital disorder of metabolism hsa00860 Porphyrin and chlorophyll metabolism (PCT) UROD; uroporphyrinogen decarboxylase [HSA:7389] [KO:K01599]
(AIP) HMBS; hydroxymethylbilane synthase [HSA:3145] [KO:K01749]
(VP) PPOX; protoporphyrinogen oxidase [HSA:5498] [KO:K00231]
(ALADP) ALAD; porphobilinogen synthase [HSA:210] [KO:K01698]
(HCP) CPOX; coproporphyrinogen III oxidase [HSA:1371] [KO:K00228]
H00206 Mevalonate kinase deficiency ... D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA ... Inherited metabolic disease; Immune system disease hsa00900 Terpenoid backbone biosynthesis MVK; mevalonate kinase [HSA:4598] [KO:K00869]
H00223 Inherited thrombophilia Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. Hematologic disease hsa04610 Complement and coagulation cascades SERPINC1; antithrombin III [HSA:462] [KO:K03911]
PROC; protein C [HSA:5624] [KO:K01344]
PROS1; protein S [HSA:5627] [KO:K03908]
F2; coagulation factor II (thrombin) [HSA:2147] [KO:K01313]
F5; coagulation factor V (labile factor) [HSA:2153] [KO:K03902]
HRG; histidine-rich glycoprotein [HSA:3273] [KO:K23410]
PLG; plasminogen [HSA:5340] [KO:K01315]
SERPINE1; plasminogen activator inhibitor 1 [HSA:5054] [KO:K03982]
FGA; fibrinogen alpha chain [HSA:2243] [KO:K03903]
FGB; fibrinogen beta chain [HSA:2244] [KO:K03904]
FGG; fibrinogen gamma chain [HSA:2266] [KO:K03905]
SERPIND1; heparin cofactor II [HSA:3053] [KO:K03912]
THBD; thrombomodulin [HSA:7056] [KO:K03907]
F9; coagulation factor IX [HSA:2158] [KO:K01321]
H00238 Fanconi anemia ... chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway). Hematologic disease hsa03460 Fanconi anemia pathway (FANCA) FANCA [HSA:2175] [KO:K10888]
(FANCB) FANCB [HSA:2187] [KO:K10889]
(FANCC) FANCC [HSA:2176] [KO:K10890]
(FANCD1) BRCA2 [HSA:675] [KO:K08775]
(FANCD2) FANCD2 [HSA:2177] [KO:K10891]
(FANCE) FANCE [HSA:2178] [KO:K10892]
(FANCF) FANCF [HSA:2188] [KO:K10893]
(FANCG) FANCG [HSA:2189] [KO:K10894]
(FANCI) FANCI [HSA:55215] [KO:K10895]
(FANCJ) BRIP1 [HSA:83990] [KO:K15362]
(FANCL) FANCL [HSA:55120] [KO:K10606]
(FANCM) FANCM [HSA:57697] [KO:K10896]
(FANCN) PALB2 [HSA:79728] [KO:K10897]
(FANCO) RAD51C [HSA:5889] [KO:K10870]
(FANCP) SLX4 [HSA:84464] [KO:K10484]
(FANCQ) ERCC4 [HSA:2072] [KO:K10848]
(FANCR) RAD51 [HSA:5888] [KO:K04482]
(FANCT) UBE2T [HSA:29089] [KO:K13960]
(FANCU) XRCC2 [HSA:7516] [KO:K10879]
(FANCV) MAD2L2 [HSA:10459] [KO:K13728]
(FANCW) RFWD3 [HSA:55159] [KO:K15691]
H00249 Thyroid hormone resistance syndrome Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations ... Endocrine disease hsa04080 Neuroactive ligand-receptor interaction
hsa04919 Thyroid hormone signaling pathway
THRB [HSA:7068] [KO:K08362]
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