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Entry Name Description Category Pathway Gene
H00005 Chronic lymphocytic leukemia ... cases every year. A main focus in CLL research involved the evaluation of genetic features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best ... 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]
H00019 Pancreatic cancer ... adenocarcinoma is the most 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 ... 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]
H00021 Renal cell carcinoma Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer ... Cancer hsa05211 Renal cell carcinoma PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
HNF1A [HSA:6927] [KO:K08036]
OGG1 [HSA:4968] [KO:K03660]
PBRM1 [HSA:55193] [KO:K11757]
H00024 Prostate cancer ... of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage mediated by carcinogens. NKX3 ... 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 ... mechanisms of pathway inactivation include silencing of the p16INK4a gene by promoter hypermethylation, somatic mutations of the p53 gene, over-expression of MDM2 and mutation of p14ARF. Several other molecular ... 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]
H00032 Thyroid cancer ... carcinomas (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages ... 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 ... year, accounting for 0.02% of all reported cancers. Unfortunately, most patients present with metastatic disease which reduces the 5 year survival rate to less than 10%. Oncogenes and tumor-suppressor ... 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]
H00043 Neuroblastoma ... these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized ... 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]
H00045 Pancreatic neuroendocrine tumor Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00046 Cholangiocarcinoma ... neoplasm that carries a poor prognosis and lacks effective therapy. It is the second most common primary hepatic tumor, and it is increasing in incidence and carries a high mortality. The tumor arises from the ... 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]
H00047 Gallbladder cancer ... gallbladder, whereas a second, less frequent pathway is associated with a congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and ... 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]
H00094 Immunodeficiency associated with DNA repair defects ... sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change in DNA ligase IV has also been identified in a leukaemia patient, who was dramatically over-sensitive to radiotherapy. 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]
H00101 Other phagocyte defects ... Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. The only gene known to be associated ... Primary immunodeficiency
H00124 GM2 gangliosidoses ... deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic defect results in the accumulation of GM2 ganglioside in neurons that mainly affects motor and spinocerebellar ... Inherited metabolic disorder, Lysosomal disease (Type I) HEXA [HSA:3073] [KO:K12373]
(Type II) HEXB [HSA:3074] [KO:K12373]
(AB variant) GM2A [HSA:2760] [KO:K12383]
H00126 Gaucher disease ... activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite ... Inherited metabolic disorder, Lysosomal disease (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [HSA:5660] [KO:K12382]
H00127 Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MLD) ARSA [HSA:410] [KO:K01134]
(MLDSAPB) PSAP [HSA:5660] [KO:K12382]
H00139 alpha-Mannosidosis ... storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis ... Inherited metabolic disorder, Lysosomal disease MAN2B1 [HSA:4125] [KO:K12311]
H00141 Fucosidosis ... autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins ... Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00142 Sialidosis
Mucolipidosis I 		... recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00145 Aspartylglucosaminuria ... aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00148 Lysosomal acid lipase deficiency ... massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical ... Inherited metabolic disorder, Lysosomal disease LIPA [HSA:3988] [KO:K01052]
H00167 Phenylketonuria
Hyperphenylalaninemia 		Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the ... Inherited metabolic disorder (PKU) PAH [HSA:5053] [KO:K00500]
(HPABH4A) PTS [HSA:5805] [KO:K01737]
(HPABH4B) GCH1 [HSA:2643] [KO:K01495]
(HPABH4C) QDPR [HSA:5860] [KO:K00357]
(HPABH4D) PCBD1 [HSA:5092] [KO:K01724]
(HPANBH4) DNAJC12 [HSA:56521] [KO:K09532]
H00176 Adrenoleukodystrophy ... Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit Inherited metabolic disorder, Peroxisomal disease ABCD1 [HSA:215] [KO:K05675]
H00201 Erythropoietic porphyria ... by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias ... Inherited metabolic disorder (EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
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 Inherited metabolic disorder (PCT) UROD [HSA:7389] [KO:K01599]
(AIP) HMBS [HSA:3145] [KO:K01749]
(VP) PPOX [HSA:5498] [KO:K00231]
(ALADP) ALAD [HSA:210] [KO:K01698]
(HCP) CPOX [HSA:1371] [KO:K00228]
H00217 Pulmonary alveolar proteinosis ... stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune ... Respiratory system disease
H00218 Cystic fibrosis ... features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ... Respiratory system disease CFTR [HSA:1080] [KO:K05031]
TGFB1 [HSA:7040] [KO:K13375]
FCGR2A [HSA:2212] [KO:K06472]
H00246 Primary hyperparathyroidism
Familial hyperparathyroidism 		... caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene. Endocrine and metabolic disease (HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]
H00251 Thyroid dyshormonogenesis
Dyshormogenetic goiter 		Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... Endocrine and metabolic disease (TDH1) SLC5A5 [HSA:6528] [KO:K14385]
(TDH2A) TPO [HSA:7173] [KO:K00431]
(TDH2B) SLC26A4 [HSA:5172] [KO:K14702]
(TDH2B) FOXI1 [HSA:2299] [KO:K09401]
(TDH3) TG [HSA:7038] [KO:K10809]
(TDH4) IYD [HSA:389434] [KO:K17231]
(TDH5) DUOXA2 [HSA:405753] [KO:K17232]
(TDH6) DUOX2 [HSA:50506] [KO:K13411]
H00272 Multiple sulfatase deficiency ... their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile cases Inherited metabolic disorder, Lysosomal disease SUMF1 [HSA:285362] [KO:K13444]
H00281 GM1 gangliosidosis ... autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage ... Inherited metabolic disorder, Lysosomal disease GLB1 [HSA:2720] [KO:K12309]
H00307 Vibrio parahaemolyticus infection ... that naturally inhabits marine and estuarine environments. It is a well-recognized pathogen of both aquatic animals and humans. In the case of humans, it is often acquired through the consumption of raw or ... Bacterial infectious disease
H00310 Q fever ... many different reservoirs that mainly consist of dairy cattle. Infection in humans is often asymptomatic, but may appear either in an acute form accompanied mainly by fever (self-limited flu-like disease ... Bacterial infectious disease
H00314 Meningococcal infection ... meningitidis is a gram-negative bacterial pathogen that specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant to infection through ... Bacterial infectious disease
H00317 Melioidosis ... water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia, and hepatic and splenic abscesses. Bacterial infectious disease TLR5 (resistance) [HSA:7100] [KO:K10168]
H00325 Brucellosis ... Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations. Bacterial infectious disease
H00327 Trench fever ... affected several million people worldwide during the two world wars. The incidence of trench fever dramatically decreased after World War II, but recently it reemerged in urban homeless populations of developed ... Bacterial infectious disease
H00346 Extrinsic allergic alveolitis
Hypersensitivity pneumonitis 		... reduce antigen exposure. There are many individuals with a positive antibody reaction who remain asymptomatic. EAA traditionally has been described as occurring in a state of acute, subacute, and chronic form Immune system disease
H00347 Chlamydia infection ... infection can cause cervicitis in women and urethritis in men. Most of these infections are asymptomatic but, if not treated, can lead to non-gonococcal urethritis and post-gonococcal urethritis in men ... Bacterial infectious disease
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