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Entry Name Description Category Pathway Gene
H00014 Non-small cell lung cancer ... transmits growth signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK fusion leads to constitutive ALK activation, which causes cell proliferation, invasion ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00018 Gastric cancer ... receptor type I (TGFBRI) expression and complete loss of p27 expression are commonly observed in more advanced GC. The main molecular changes observed in diffuse-type GCs include loss of E-cadherin function ... Cancer hsa05226 Gastric cancer CDX2 (overexpression) [HSA:1045] [KO:K22234]
TERT (overexpression) [HSA:7015] [KO:K11126]
RARB (reduced expression) [HSA:5915] [KO:K08528]
CDKN1B (reduced expression) [HSA:1027] [KO:K06624]
TGFBR1 (reduced expression) [HSA:7046] [KO:K04674]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
CCNE1 (amplification) [HSA:898] [KO:K06626]
MET (amplification) [HSA:4233] [KO:K05099]
FGFR2 (amplification) [HSA:2263] [KO:K05093]
MLH1 (methylation) [HSA:4292] [KO:K08734]
TP53 [HSA:7157] [KO:K04451]
APC [HSA:324] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
CDH1 [HSA:999] [KO:K05689]
MUTYH [HSA:4595] [KO:K03575]
PIK3CA [HSA:5290] [KO:K00922]
H00055 Laryngeal cancer ... amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas c-myc could be amplified in 13% of cases although without associated overexpression 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]
H00392 VLCAD deficiency
Very long-chain acyl-CoA dehydrogenase deficiency 		Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious ... Inherited metabolic disorder ACADVL [HSA:37] [KO:K09479]
H00409 Type 2 diabetes mellitus ... combined control of environmental and genetic factors. It is accepted that T2DM results from population aging and adverse environmental factors of the modern world which favor the development of obesity. Endocrine and metabolic disease hsa04930 Type II diabetes mellitus IGF2BP2 [HSA:10644] [KO:K17392]
CAPN10 [HSA:11132] [KO:K08579]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
H00508 Blomstrand syndrome
Blomstrand chondrodysplasia 		Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation. Congenital malformation PTHR1 [HSA:5745] [KO:K04585]
H00525 Disorders of mitochondrial fatty-acid oxidation Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... Inherited metabolic disorder (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]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00688 Familial advanced sleep phase syndrome Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose ... Nervous system disease (FASPS1) PER2 [HSA:8864] [KO:K02633]
(FASPS2) CSNK1D [HSA:1453] [KO:K08959]
(FASPS3) PER3 [HSA:8863] [KO:K21945]
(FASPS4) TIMELESS [HSA:8914] [KO:K10997]
H00794 Aromatase excess syndrome ... that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients ... Endocrine and metabolic disease CYP19A1 (gain of function) [HSA:1588] [KO:K07434]
H00812 Trichomoniasis ... symptoms, ranging from a relatively asymptomatic state in one-third of cases to severe irritation and inflammation. Several complications associated with adverse pregnancy outcomes have been reported. Parasitic infectious disease
H01241 Congenital diaphragmatic hernia ... CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown ... Congenital malformation (DIH3) ZFPM2 [HSA:23414] [KO:K17442]
(DIH4) ALDH1A2 [HSA:8854] [KO:K07249]
H01320 Epidemic keratoconjunctivitis ... keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: EKC and pharyngoconjunctival ... Viral infectious disease
H01373 Achromobacter xylosoxidans infection ... pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer, advanced HIV, diabetes mellitus or chronic renal failure. This bacterium can rarely cause keratitis in ... Bacterial infectious disease
H01440 Acute necrotizing ulcerative gingivitis
Vincent gingivitis
Vincent angina
Trench mouth 		... fusiform bacteria, or an overgrowth of normal oral flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting ... Bacterial infectious disease
H01463 Mycosis fungoides ... the tumor necrosis factor family of receptors. Decreased and/or defective Fas expression by neoplastic T cells has been associated with advanced/aggressive disease and impaired Fas-mediated apoptosis. Cancer p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621]
p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
JUNB (mutation) [HSA:3726] [KO:K09028]
Fas (loss of expression) [HSA:355] [KO:K04390]
Nav3 (deletion) [HSA:89795] [KO:K23919]
c-MYC (amplification) [HSA:4609] [KO:K04377]
H01465 Large-vessel vasculitis ... C-reactive protein (CRP); and erythrocyte sedimentation rate (ESR) levels. Glucocorticoids are the mainstay of therapy of LVV. Patients may develop predictable adverse effects from long-term glucocorticoid use. Immune system disease
H01470 Giant cell tumor of bone ... osteoclast precursors from blood to the tumor, and stimulates differentiation into multinucleated giant cells. Recently, denosumab (RANKL inhibitor) has become a new treatment option for locally advanced GCTB. Cancer RANKL (overexpression) [HSA:8600] [KO:K05473]
H3F3A (mutation) [HSA:3020] [KO:K11253]
TP53 (mutation) [HSA:7157] [KO:K04451]
HRAS (mutation) [HSA:3265] [KO:K02833]
H01516 Adult onset Still disease
Adult Still disease 		... studies have reported an association between AOSD and gene polymorphism of HLA, IL-18, and MEFV. Recent advances have revealed a pivotal role of proinflammatory cytokines such as TNF-alpha, IL-1, IL-6, IL-8 ... Immune system disease
H01517 Erysipelas ... are chills, fever, a well-demarcated, erythematous, indurated, rapidly spreading patch with a palpable advancing border on the face or extremities. This disease most frequently affects infants, small children ... Bacterial infectious disease
H01563 HIV infection ... integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV ... Viral infectious disease hsa05170 Human immunodeficiency virus 1 infection CCR5 (resistance) [HSA:1234] [KO:K04180]
CCR2 (resistance) [HSA:729230] [KO:K04177]
TLR3 (resistance) [HSA:7098] [KO:K05401]
CXCL12 (resistance) [HSA:6387] [KO:K10031]
CCL2 (resistance) [HSA:6347] [KO:K14624]
CCL3 (resistance) [HSA:6348] [KO:K05408]
CCL11 (resistance) [HSA:6356] [KO:K16597]
IL10 (susceptibility) [HSA:3586] [KO:K05443]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
HLA-C (susceptibility) [HSA:3107] [KO:K06751]
CCL3L1 (susceptibility) [HSA:6349] [KO:K05408]
IFNG (rapid progression) [HSA:3458] [KO:K04687]
CX3CR1 (rapid progression) [HSA:1524] [KO:K04192]
CXCR1 (slow progression) [HSA:3577] [KO:K04175]
IL4R (slow progression) [HSA:3566] [KO:K05071]
CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499]
KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980]
H01677 Congenital hydrocephalus ... anomalies. Almost 50% of all cases of hydrocephalus are congenital and these are usually associated with adverse neurological outcome. It is probably the consequence of abnormal brain development. Genetic factors ... Congenital malformation (HYC1) CCDC88C [HSA:440193] [KO:K25811]
(HYC2) MPDZ [HSA:8777] [KO:K06095]
(HYC3) WDR81 [HSA:124997] [KO:K17601]
(HYC4/HYDCC1) TRIM71 [HSA:131405] [KO:K12035]
(HYC5) SMARCC1 [HSA:6599] [KO:K11649]
(HYDNP1) CFAP43 [HSA:80217] [KO:K24223]
H01698 Giant cell arteritis
Temporal arteritis 		... PTPN22. Glucocorticoids are currently the mainstay of treatment for GCA but are associated with frequent adverse events. Tocilizumab, a humanised antihuman IL-6 receptor antibody, has been used successfully ... Immune system disease
H01709 Glucocorticoid-induced osteonecrosis Glucocorticoid-induced osteonecrosis is a common and severe adverse event. Glucocorticoid use is one of the most important causes of osteonecrosis. In patients receiving long-term therapy, glucocorticoids ... Musculoskeletal disease
H01810 Congenital myopathy ... myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship ... Nervous system disease; Musculoskeletal disease (CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961]
(CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354]
(CMYP3) SELENON [HSA:57190] [KO:K19874]
(CMYP4) TPM3 [HSA:7170] [KO:K09290]
(CMYP5) TTN [HSA:7273] [KO:K12567]
(CMYP6) MYH2 [HSA:4620] [KO:K24220]
(CMYP7) MYH7 [HSA:4625] [KO:K17751]
(CMYP8) ACTN2 [HSA:88] [KO:K21073]
(CMYP9) FXR1 [HSA:8087] [KO:K15516]
(CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068]
(CMYP11) HACD1 [HSA:9200] [KO:K10703]
(CMYP12) CNTN1 [HSA:1272] [KO:K06759]
(CMYP13) STAC3 [HSA:246329] [KO:K23713]
(CMYP14) MYL1 [HSA:4632] [KO:K05738]
(CMYP15) TNNC2 [HSA:7125] [KO:K12042]
(CMYP16) MYBPC1 [HSA:4604] [KO:K12557]
(CMYP17) MYOD1 [HSA:4654] [KO:K09064]
(CMYP18) CACNA1S [HSA:779] [KO:K04857]
(CMYP19) PAX7 [HSA:5081] [KO:K09381]
(CMYP20) RYR3 [HSA:6263] [KO:K04963]
(CMYP21) DNAJB4 [HSA:11080] [KO:K09510]
(CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837]
(CMYP23) TPM2 [HSA:7169] [KO:K10374]
(CMYP24) MYPN [HSA:84665] [KO:K22028]
(CMND) SPTBN4 [HSA:57731] [KO:K06115]
H01835 Neuronal migration disorder ... defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging. Congenital malformation
H02078 Autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental ... Nervous system disease BEST1 [HSA:7439] [KO:K13878]
H02193 Intrahepatic cholestasis of pregnancy
Obstetric cholestasis 		... and environmental factors. Risk factors for ICP include multiple pregnancy, in vitro fertilization, advanced maternal age, history of prior affected pregnancy, positive family history, and hepatitis C ... Digestive system disease (ICP1) ATP8B1 [HSA:5205] [KO:K01530]
(ICP3) ABCB4 [HSA:5244] [KO:K05659]
H02393 Talaromycosis
Penicilliosis 		... southeast Asia, southern China, and northeastern India. It is a major cause of death in patients with advanced HIV infection in these areas. Infections probably occur through inhalation of T. marneffei conidia Fungal infectious disease
H02551 Skeletal dysplasia with joint laxity and advanced bone age Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis ... Congenital malformation CSGALNACT1 [HSA:55790] [KO:K00746]
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