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Entry Name Description Category Pathway Gene
H00017 Esophageal cancer ... incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC ... Cancer EGFR (overexpression) [HSA:1956] [KO:K04361]
PTGS2 (overexpression) [HSA:5743] [KO:K11987]
NOS2 (increased expression) [HSA:4843] [KO:K13241]
FAS (increased expression) [HSA:355] [KO:K04390]
CCND1 (amplification) [HSA:595] [KO:K04503]
TP53 [HSA:7157] [KO:K04451]
CDKN2A [HSA:1029] [KO:K06621]
RB1 [HSA:5925] [KO:K06618]
APC [HSA:324] [KO:K02085]
DCC [HSA:1630] [KO:K06765]
LZTS1 [HSA:11178] [KO:K26460]
RNF6 [HSA:6049] [KO:K22753]
TGFBR2 [HSA:7048] [KO:K04388]
WWOX [HSA:51741] [KO:K19329]
H00019 Pancreatic cancer ... the EGFR family ligands. Moreover, PDA shows extensive genomic instability and aneuploidy. Telomere attrition and mutations in p53 and BRCA2 are likely to contribute to these phenotypes. Inactivation of ... 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]
H00091 T-B+Severe combined immunodeficiency ... result in a pure T-cell deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00272 Multiple sulfatase deficiency ... recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites ... Inherited metabolic disorder, Lysosomal disease SUMF1 [HSA:285362] [KO:K13444]
H00282 Cryopyrin associated periodic syndrome ... diseases characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production ... Immune system disease NLRP3 [HSA:114548] [KO:K12800]
H00286 Crohn disease ... activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals ... Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H00798 Familial carpal tunnel syndrome Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with ... Nervous system disease (CTS1) TTR [HSA:7276] [KO:K20731]
(CTS2) COMP [HSA:1311] [KO:K04659]
H00845 Familial amyloidosis ... results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis ... Nervous system disease TTR [HSA:7276] [KO:K20731]
FGA [HSA:2243] [KO:K03903]
APOA1 [HSA:335] [KO:K08757]
LYZ [HSA:4069] [KO:K13915]
B2M [HSA:567] [KO:K08055]
H00913 Brain-lung-thyroid syndrome
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 		... muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing ... Endocrine and metabolic disease NKX2-1 [HSA:7080] [KO:K09342]
H01178 Myiasis ... which the larva invades healthy tissue of the host, (ii) secondary myiasis where the adult female is attracted to and lays its eggs on wounded skin, and (iii) accidental myiasis caused by ingestion of contaminated ... Parasitic infectious disease
H01339 Asymptomatic bacteriuria ... mucosal surfaces does not always cause symptoms and tissue damage. Asymptomatic bacteriuria has been attracting attention as a model to study mechanisms underlying the development of commensalism. Escherichia ... Bacterial infectious disease
H01420 Pharyngoconjunctival fever Pharyngoconjunctival fever (PCF) is a syndrome attributed to human adenovirus B, particularly serotype 3, which causes small outbreaks, mainly among children. The syndrome may occur sporadically and can ... Viral infectious disease
H01441 Pseudomonas aeruginosa infection ... bacteria, after Escherichia coli and Klebsiella species. Intrinsic resistance has been traditionally attributed to the low permeability of cellular envelopes together with the presence of chromosomally-encoded ... Bacterial infectious disease
H01448 Hoarding disorder ... is characterized by persistent difficulty discarding possessions, regardless of the value others may attribute to these possessions. They accumulate a large number of possessions that often fill up or clutter ... Mental and behavioural disorder
H01696 Subacute sclerosing panencephalitis ... adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus. Signs attributable to subacute sclerosing panencephalitis usually develop 4-8 years after the onset of measles ... Neurodegenerative disease; Viral infectious disease
H01697 Antiphospholipid syndrome ... such as recurrent unexplained abortions, fetal loss, preeclampsia, and premature birth, have been attributed to placental thrombosis and infarcts, and management of these patients is based on attenuating ... Hematologic disease
H01713 Diffuse panbronchiolitis ... near-fatal to a treatable disease. A significant improvement in the prognosis of this disease has been attributed to the long-term use of macrolides. The five-year survival rate increased to about 90% after ... Respiratory system disease
H01812 Rasmussen encephalitis
Rasmussen syndrome 		... There is evidence of autoimmune involvement in the pathogenesis. The immunopathology of this disease is attributed mainly to activated cytotoxic T cells. It has been reported that genetic variations of immunoregulatory ... Immune system disease; Nervous system disease CTLA4 (polymorphism) [HSA:1493] [KO:K06538]
PDCD1 (polymorphism) [HSA:5133] [KO:K06744]
H01841 Acute encephalopathy with biphasic seizures and late reduced diffusion ... (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. AESD is the most common subtype ... Nervous system disease
H01878 Al-Raqad syndrome ... neurological defects, cognitive impairment, skeletal and cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger ... Congenital malformation DCPS [HSA:28960] [KO:K12584]
H01998 Pyruvate dehydrogenase E1-beta deficiency ... (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been reported. Primary defects in the E1 beta ... Inherited metabolic disorder PDHB [HSA:5162] [KO:K00162]
H02199 Congenital heart defects, multiple type ... obscure. It is generally understood that abnormal cardiovascular development during embryogenesis may be attributed to an aberrant biological process that is heterogeneous and complex, with both environmental ... Congenital malformation (CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
(CHTD8) SMAD2 [HSA:4087] [KO:K04500]
(CHTD9) PLXND1 [HSA:23129] [KO:K06822]
H02269 Familial ventricular tachycardia ... ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic ... Cardiovascular disease GNAI2 [HSA:2771] [KO:K04630]
H02309 Adenosine deaminase deficiency ... causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid ... Immune system disease ADA [HSA:100] [KO:K01488]
H02485 Extraoral halitosis due to MTO deficiency ... Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified ... Inherited metabolic disorder SELENBP1 [HSA:8991] [KO:K17285]
H02647 Macrodactyly ... consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02737 Familial multinodular goiter ... MNG with or without ovarian Sertoli-Leydig cell tumor. DICER1, a member of the RNaseIII family, is involved in the generation of microRNAs, that modulate gene expression at the posttranscriptional level. Endocrine and metabolic disease (MNG1) DICER1 [HSA:23405] [KO:K11592]
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