Search Result

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Entry Name Description Category Pathway Gene
H00007 Hodgkin lymphoma ... characteristic feature of HL is the rareness of the tumor cells, which are called Hodgkin's and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and histiocytic (L&H) cells in NLPHL. These cells represent ... 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]
H00022 Bladder cancer ... ureter account for 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 ... 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 ... S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage mediated by carcinogens. NKX3.1, PTEN, and p27 regulate the growth and survival of ... 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]
H00028 Choriocarcinoma ... pathway, overexpression of the p53 protein and the p53-associated protein, MDM2, have been detected. Synergistic upregulation of c-MYC, c-ERB-2, c-FMS, and BCL-2 oncoproteins have also been suggested to have ... 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]
H00035 Ewing sarcoma ... EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;12)(22;12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each ... Cancer hsa05202 Transcriptional misregulation in cancer EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]
H00040 Squamous cell carcinoma ... per year, causing about 2000 deaths. Unlike BCCs, which have no known precursor lesions, SCCs can emerge from actinic keratoses. As with BCC, risk for development of SCC is strongly influenced by the nature ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
H-ras (mutation) [HSA:3265] [KO:K02833]
K-ras (mutation) [HSA:3845] [KO:K07827]
H00057 Parkinson disease ... is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental factors and mutations ... 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]
H00079 Asthma ... variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of the antigen ... Immune system disease hsa05310 Asthma IL4 (polymorphism) [HSA:3565] [KO:K05430]
IL4RA (polymorphism) [HSA:3566] [KO:K05071]
IL13 (polymorphism) [HSA:3596] [KO:K05435]
FCER1B (polymorphism) [HSA:2206] [KO:K08090]
TNFA (polymorphism) [HSA:7124] [KO:K03156]
ADAM33 (polymorphism) [HSA:80332] [KO:K08616]
CD14 (polymorphism) [HSA:929] [KO:K04391]
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
ADRB2 (polymorphism) [HSA:154] [KO:K04142]
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]
H00120 Muscular dystrophy-dystroglycanopathy type A Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Congenital disorder of metabolism; Congenital malformation hsa00515 Mannose type O-glycan biosynthesis (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) ISPD [HSA:729920] [KO:K21031]
(MDDGA8) GTDC2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) TMEM5 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) SGK196 [HSA:84197] [KO:K17547]
(MDDGA13) B3GNT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00191 Nonketotic hyperglycinemia
Glycine encephalopathy (GCE)
Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic ... Inherited metabolic disease; Nervous system disease hsa00260 Glycine, serine and threonine metabolism GLDC; glycine dehydrogenase [HSA:2731] [KO:K00281]
AMT; aminomethyltransferase [HSA:275] [KO:K00605]
GCSH [HSA:2653] [KO:K02437]
H00215 Periodic paralysis The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) ... Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism hsa04725 Cholinergic synapse (HyperPP HypoPP) SCN4A; voltage-gated sodium channel [HSA:6329] [KO:K04837]
(HypoPP) CACNA1S; voltage-dependent calcium channel [HSA:779] [KO:K04857]
(HypoPP) KCNE3; voltage-gated potassium channel [HSA:10008] [KO:K04897]
(ATS) KCNJ2; potassium inwardly-rectifying channel [HSA:3759] [KO:K04996]
H00291 Familial chilblain lupus (FCL)
Chilblain lupus erythematosus (CHLE)
... dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that ... Immune system disease hsa04623 Cytosolic DNA-sensing pathway TREX1 [HSA:11277] [KO:K10790]
H00292 Hypertrophic cardiomyopathy ... ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy MYH7 (mutation) [HSA:4625] [KO:K17751]
TNNT2 (mutation) [HSA:7139] [KO:K12045]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
TPM1 (mutation) [HSA:7168] [KO:K10373]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
MYL2 (mutation) [HSA:4633] [KO:K10351]
MYL3 (mutation) [HSA:4634] [KO:K12749]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TTN (mutation) [HSA:7273] [KO:K12567]
MYH6 (mutation) [HSA:4624] [KO:K17751]
PRKAG2 (mutation) [HSA:51422] [KO:K07200]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
VCL (mutation) [HSA:7414] [KO:K05700]
H00294 Dilated cardiomyopathy ... induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM ... Cardiovascular disease hsa05414 Dilated cardiomyopathy TNNT2 (mutation) [HSA:7139] [KO:K12045]
TTN (mutation) [HSA:7273] [KO:K12567]
DES (mutation) [HSA:1674] [KO:K07610]
SGCD (mutation) [HSA:6444] [KO:K12563]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
MYH7 (mutation) [HSA:4625] [KO:K17751]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TPM1 (mutation) [HSA:7168] [KO:K10373]
LMNA (mutation) [HSA:4000] [KO:K12641]
DMD (mutation) [HSA:1756] [KO:K10366]
Tafazzin (mutation) [HSA:6901] [KO:K13511]
LDB3 (mutation) [HSA:11155] [KO:K19867]
ACTN2 (mutation) [HSA:88] [KO:K21073]
NEXN (mutation) [HSA:91624] [KO:K23918]
RBM20 (mutation) [HSA:282996] [KO:K24052]
SCN5A (mutation) [HSA:6331] [KO:K04838]
MYH6 (mutation) [HSA:4624] [KO:K17751]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
SDHA (mutation) [HSA:6389] [KO:K00234]
EYA4 (mutation) [HSA:2070] [KO:K17622]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TCAP (mutation) [HSA:8557] [KO:K19879]
ABCC9 (mutation) [HSA:10060] [KO:K05033]
PLN (mutation) [HSA:5350] [KO:K05852]
TMPO (mutation) [HSA:7112] [KO:K24031]
PSEN1 (mutation) [HSA:5663] [KO:K04505]
PSEN2 (mutation) [HSA:5664] [KO:K04522]
VCL (mutation) [HSA:7414] [KO:K05700]
FKTN (mutation) [HSA:2218] [KO:K19872]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
TAZ (mutation) [HSA:6901] [KO:K13511]
GATAD1 (mutation) [HSA:57798] [KO:K23407]
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
H00301 Klebsiella infection Klebsiella is a gram-negative bacterium of Enterobacteriaceae, which has emerged as an important cause of hospital-acquired infections. Infections caused by extended-spectrum beta-lactamase (ESBL)-producing ... Infectious disease
H00309 Multidrug-resistant Acinetobacter infection Acinetobacter baumannii has emerged as a worldwide problem as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and ... Infectious disease
H00319 Pertussis
Whooping cough
... contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged worldwide, causing approximately 300 000 deaths each year. Waning immunity after childhood immunization ... Infectious disease hsa05133 Pertussis
H00327 Trench fever ... world wars. The incidence of trench fever dramatically decreased after World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench ... Infectious disease
H00331 Vancomycin-resistant Staphylococcal aureus (VRSA) infection ... been the mainstay of treatment of methicillin-resistant S. aureus (MRSA) but overuse has led to the emergence of vancomycin-intermediate and vancomycin-resistant S. aureus (VISA and VRSA, respectively). ... Infectious disease hsa05150 Staphylococcus aureus infection
H00346 Extrinsic allergic alveolitis
Hypersensitivity pneumonitis
Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is caused by repeated inhalation of mainly organic antigens by sensitized subjects. This induces a hypersensitivity response ... Immune system disease; Respiratory disease; Infectious disease
H00363 Candidiasis ... unit (ICU) setting, causing bloodstream infections. Recently, various non-C. albicans species have emerged as infecting agents. In patients with impaired IL-17 immunity, recurrent or persistent infections ... Infectious disease
H00391 Henipavirus infection Hendra virus and Nipah virus are members of a new genus, Henipavirus, in the emerging family Paramyxoviridae. They are bat-borne paramyxoviruses which are responsible for severe disease with high mortality ... Infectious disease
H00402 Severe acute respiratory syndrome
... respiratory syndrome (SARS) is a viral respiratory illness caused by SARS coronavirus. SARS first emerged in 2002 and gained global from 2002 to 2003. The main mode of transmission of SARS coronavirus ... Infectious disease
H00408 Type 1 diabetes mellitus The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated ... Metabolic disease; Immune system disease; Endocrine disease hsa04940 Type I diabetes mellitus
hsa04660 T cell receptor signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
hsa04630 JAK-STAT signaling pathway
hsa04722 Neurotrophin signaling pathway
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
INS (polymorphism) [HSA:3630] [KO:K04526]
CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]
PTPN22 (polymorphism) [HSA:26191] [KO:K18024]
IL-2RA (polymorphism) [HSA:3559] [KO:K05068]
PTPN2 (polymorphism) [HSA:5771] [KO:K18026]
ERBB3 (polymorphism) [HSA:2065] [KO:K05084]
IL2 - IL21 (intergenic region polymorphism) [HSA:3558 59067] [KO:K05429 K05434]
IFIH1 (polymorphism) [HSA:64135] [KO:K12647]
CLEC16A (polymorphism) [HSA:23274] [KO:K19513]
BACH2 (polymorphism) [HSA:60468] [KO:K09042]
PRKCQ (polymorphism) [HSA:5588] [KO:K18052]
CTSH (polymorphism) [HSA:1512] [KO:K01366]
C1QTNF6 (polymorphism) [HSA:114904] [KO:K19470]
SH2B3 (polymorphism) [HSA:10019] [KO:K12459]
C12orf30 (polymorphism) [HSA:80018] [KO:K17973]
CD226 (polymorphism) [HSA:10666] [KO:K06567]
ITPR3 (polymorphism) [HSA:3710] [KO:K04960]
CYP27B1 (polymorphism) [HSA:1594] [KO:K07438]
H00409 Type 2 diabetes mellitus Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... Metabolic disease; Endocrine disease hsa04110 Cell cycle
hsa04115 p53 signaling pathway
hsa04350 TGF-beta signaling pathway
hsa04911 Insulin secretion
hsa04930 Type II diabetes mellitus
hsa04972 Pancreatic secretion
hsa04330 Notch signaling pathway
hsa03320 PPAR signaling pathway
hsa04310 Wnt signaling pathway
hsa04141 Protein processing in endoplasmic reticulum
CDKN2A (polymorphism) [HSA:1029] [KO:K06621]
CDKN2B (polymorphism) [HSA:1030] [KO:K04685]
IGF2BP2 (polymorphism) [HSA:10644] [KO:K17392]
CAPN10 (polymorphism) [HSA:11132] [KO:K08579]
SLC30A8 (polymorphism) [HSA:169026] [KO:K14695]
JAZF1 (polymorphism) [HSA:221895] [KO:K19495]
HHEX (polymorphism) [HSA:3087] [KO:K08024]
KCNJ11 (polymorphism) [HSA:3767] [KO:K05004]
KCNQ1 (polymorphism) [HSA:3784] [KO:K04926]
MTNR1B (polymorphism) [HSA:4544] [KO:K04286]
NOTCH2 (polymorphism) [HSA:4853] [KO:K20994]
ENPP1 (polymorphism) [HSA:5167] [KO:K01513]
PPARG (polymorphism) [HSA:5468] [KO:K08530]
CDKAL1 (polymorphism) [HSA:54901] [KO:K15865]
ADAMTS9 (polymorphism) [HSA:56999] [KO:K08624]
HNF1B (polymorphism) [HSA:6928] [KO:K08034]
TCF7L2 (polymorphism) [HSA:6934] [KO:K04491]
WFS1 (polymorphism) [HSA:7466] [KO:K14020]
FTO (polymorphism) [HSA:79068] [KO:K19469]
H00447 HEM skeletal dysplasia
Greenberg dysplasia
Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is ... Congenital malformation LBR [HSA:3930] [KO:K19532]
H00455 Spinal muscular atrophy ... and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation ... Neurodegenerative disease hsa03013 RNA transport (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBE1 [HSA:7317] [KO:K03178]
(SMAX3) ATP7A [HSA:538] [KO:K17686]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
(SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
(SMALED2) BICD2 [HSA:23299] [KO:K18739]
H00512 Permanent neonatal diabetes mellitus ... (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM) ... Metabolic disease; Endocrine disease hsa04910 Insulin signaling pathway KCNJ11 [HSA:3767] [KO:K05004]
ABCC8 [HSA:6833] [KO:K05032]
GCK [HSA:2645] [KO:K12407]
INS [HSA:3630] [KO:K04526]
IPF1 [HSA:3651] [KO:K07594]
PTF1A [HSA:256297] [KO:K09073]
FOXP3 [HSA:50943] [KO:K10163]
EIF2AK3 [HSA:9451] [KO:K08860]
GLIS3 [HSA:169792] [KO:K09232]
H00513 Transient neonatal diabetes mellitus ... (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM) ... Metabolic disease; Endocrine disease ZFP57 [HSA:346171] [KO:K09228]
PLAGL1 [HSA:5325] [KO:K19485]
HYMAI [HSA:57061]
ABCC8 [HSA:6833] [KO:K05032]
KCNJ11 [HSA:3767] [KO:K05004]
H00525 Disorders of mitochondrial fatty-acid oxidation ... group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic pathway. The symptoms ... Inherited metabolic disease hsa00071 Fatty acid degradation (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
H00532 Parkes Weber syndrome ... vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations. Developmental disorder; Vascular disease hsa04010 MAPK signaling pathway RASA1 [HSA:5921] [KO:K04352]
H00548 Brunner syndrome
MAOA deficiency
Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin ... Inherited metabolic disease; Mental retardation hsa00340 Histidine metabolism
hsa00350 Tyrosine metabolism
hsa00380 Tryptophan metabolism
hsa04728 Dopaminergic synapse
MAOA [HSA:4128] [KO:K00274]
H00552 Chromosome Xp21 deletion syndrome Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol ... Chromosomal abnormality
H00583 Opitz-GBBB syndrome ... and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are ... Congenital malformation hsa04120 Ubiquitin mediated proteolysis (GBBB1) MID1 [HSA:4281] [KO:K08285]
(GBBB2) SPECC1L [HSA:23384] [KO:K23028]
H00599 46,XX gonadal dysgenesis
Ovarian dysgenesis
... rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Reproductive system disease hsa04913 Ovarian steroidogenesis (ODG1) FSHR [HSA:2492] [KO:K04247]
(ODG2) BMP15 [HSA:9210] [KO:K05498]
(ODG3) PSMC3IP [HSA:29893] [KO:K06695]
(ODG4) MCM9 [HSA:254394] [KO:K10738]
H00606 Early infantile epileptic encephalopathy
Ohtahara syndrome
Early infantile epileptic encephalopathy (EIEE) is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many ... Nervous system diseases hsa04723 Retrograde endocannabinoid signaling
hsa04727 GABAergic synapse
hsa04724 Glutamatergic synapse
hsa04728 Dopaminergic synapse
hsa04726 Serotonergic synapse
(EIEE1) ARX [HSA:170302] [KO:K09452]
(EIEE2) CDKL5 [HSA:6792] [KO:K08824]
(EIEE3) SLC25A22 [HSA:79751] [KO:K15107]
(EIEE4) STXBP1 [HSA:6812] [KO:K15292]
(EIEE5) SPTAN1 [HSA:6709] [KO:K06114]
(EIEE7) KCNQ2 [HSA:3785] [KO:K04927]
(EIEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(EIEE9) PCDH19 [HSA:57526] [KO:K16499]
(EIEE10) PNKP [HSA:11284] [KO:K08073]
(EIEE11) SCN2A1 [HSA:6326] [KO:K04834]
(EIEE12) PLCB1 [HSA:23236] [KO:K05858]
(EIEE13) SCN8A [HSA:6334] [KO:K04840]
(EIEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(EIEE16) TBC1D24 [HSA:57465] [KO:K21841]
(EIEE17) GNAO1 [HSA:2775] [KO:K04534]
(EIEE18) SZT2 [HSA:23334] [KO:K23298]
(EIEE19) GABRA1 [HSA:2554] [KO:K05175]
(EIEE21) NECAP1 [HSA:25977] [KO:K20069]
(EIEE22) SLC35A2 [HSA:7355] [KO:K15272]
(EIEE23) DOCK7 [HSA:85440] [KO:K21852]
(EIEE24) HCN1 [HSA:348980] [KO:K04954]
(EIEE25) SLC13A5 [HSA:284111] [KO:K14445]
(EIEE26) KCNB1 [HSA:3745] [KO:K04885]
(EIEE27) GRIN2B [HSA:2904] [KO:K05210]
(EIEE28) WWOX [HSA:51741] [KO:K19329]
(EIEE29) AARS [HSA:16] [KO:K01872]
(EIEE30) SIK1 [HSA:150094] [KO:K19008]
(EIEE31) DNM1 [HSA:1759] [KO:K01528]
(EIEE32) KCNA2 [HSA:3737] [KO:K04875]
(EIEE33) EEF1A2 [HSA:1917] [KO:K03231]
(EIEE34) SLC12A5 [HSA:57468] [KO:K23967]
(EIEE35) ITPA [HSA:3704] [KO:K01519]
(EIEE36) ALG13 [HSA:79868] [KO:K07432]
(EIEE37) FRRS1L [HSA:23732]
(EIEE38) ARV1 [HSA:64801] [KO:K21848]
(EIEE40) GUF1 [HSA:60558] [KO:K21594]
(EIEE41) SLC1A2 [HSA:6506] [KO:K05613]
(EIEE42) CACNA1A [HSA:773] [KO:K04344]
(EIEE43) GABRB3 [HSA:2562] [KO:K05181]
(EIEE44) UBA5 [HSA:79876] [KO:K12164]
(EIEE45) GABRB1 [HSA:2560] [KO:K05181]
(EIEE46) GRIN2D [HSA:2906] [KO:K05212]
(EIEE47) FGF12 [HSA:2257] [KO:K22413]
(EIEE48) AP3B2 [HSA:8120] [KO:K12397]
(EIEE49) DENND5A [HSA:23258] [KO:K20164]
(EIEE50) CAD [HSA:790] [KO:K11540]
(EIEE51) MDH2 [HSA:4191] [KO:K00026]
(EIEE52) SCN1B [HSA:6324] [KO:K04845]
(EIEE53) SYNJ1 [HSA:8867] [KO:K20279]
(EIEE54) HNRNPU [HSA:3192] [KO:K12888]
(EIEE55) PIGP [HSA:51227] [KO:K03861]
(EIEE56) YWHAG [HSA:7532] [KO:K16198]
(EIEE57) KCNT2 [HSA:343450] [KO:K04947]
(EIEE58) NTRK2 [HSA:4915] [KO:K04360]
(EIEE59) GABBR2 [HSA:9568] [KO:K04615]
(EIEE60) CNPY3 [HSA:10695] [KO:K22816]
(EIEE61) ADAM22 [HSA:53616] [KO:K16068]
(EIEE62) SCN3A [HSA:6328] [KO:K04836]
(EIEE63) CPLX1 [HSA:10815] [KO:K15294]
H00659 Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular ... Congenital malformation SKI [HSA:6497]
H00713 Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in ... Congenital malformation hsa04110 Cell cycle CDKN1C [HSA:1028] [KO:K09993]
KCNQ10T1 [HSA:10984]
H19 [HSA:283120]
IGF2 [HSA:3481] [KO:K13769]
NSD1 [HSA:64324] [KO:K15588]
H00718 Sotos syndrome Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... Congenital malformation hsa00310 Lysine degradation NSD1 [HSA:64324] [KO:K15588]
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