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Entry	Name	Description	Category	Pathway	Gene
H00055	Laryngeal cancer	... common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of all laryngeal cancers, some 95% are ...	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]
H00097	WHIM syndrome	... infection. Affected individuals have mutations that variably truncate the cytoplasmic tail domain of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ...	Primary immunodeficiency		(WHIMS1) CXCR4 [HSA:7852] [KO:K04189] (WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
H00311	Legionellosis Legionnaires disease	... Patients who are at risk for infection include the immunosuppressed, especially those submitted to transplantation (mainly of solid organs), those with chronic lung disease, smokers, and the elderly.	Bacterial infectious disease	hsa05134 Legionellosis	TLR5 [HSA:7100] [KO:K10168]
H01360	Allergic rhinitis	... encoding for molecules implicated in the pathogenesis of AR have also been made. Such molecules comprise chemokines and their receptors, interleukins and their receptors, eosinophil peroxidase and leukotrienes ...	Immune system disease		IL13 [HSA:3596] [KO:K05435] FOXJ1 [HSA:2302] [KO:K09402]
H01440	Acute necrotizing ulcerative gingivitis Vincent gingivitis Vincent angina Trench mouth	... flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting gingivitis, extreme stress, or lack of sleep ...	Bacterial infectious disease
H01490	Multiple sclerosis	... indicate that a combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments ...	Immune system disease		(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158]
H01563	HIV infection	... and in part genetically determined. Genetic variants of genes encoding HIV co-receptors and their chemokine ligands have been described, and some of these variants were associated with resistance to 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]
H01603	Primary aldosteronism	... aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between ...	Endocrine and metabolic disease		(HALD1) CYP11B1 [HSA:1584] [KO:K00497] (HALD3) KCNJ5 [HSA:3762] [KO:K04999] (HALD4) CACNA1H [HSA:8912] [KO:K04855] (PASNA) CACNA1D [HSA:776] [KO:K04851] ATP1A1 [HSA:476] [KO:K01539] ATP2B3 [HSA:492] [KO:K05850]
H01625	Buerger disease Thromboangiitis obliterans	... affects the small and medium-sized arteries and veins in the upper and lower extremities. Cigarette smoking has been implicated as the main etiology of the disease. Although Buerger's disease has a worldwide ...	Immune system disease
H01626	Arteriosclerosis obliterans	... intermittent claudication, or even gangrene and ulceration. The risk factors of ASO include age, male gender, smoking, hypertension, hyperlipidemia, diabetes mellitus, chronic renal failure, and hyperhomocysteinemia ...	Cardiovascular disease
H01634	Peptic ulcer	... peptic ulcer are Helicobacter pylori infection and use of nonsteroidal anti-inflammatory drugs (NSAIDs). Smoking increases the risk of ulcer recurrence and slows healing. Most patients are treated successfully ...	Digestive system disease
H01664	Panic disorder	... physical illnesses (e.g. asthma) commonly occur with panic disorder, and certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear. In recent years, an ...	Mental and behavioural disorder
H01714	Chronic obstructive pulmonary disease (COPD) Emphysema	... characterized by airway inflammation and progressive airflow obstruction, most commonly caused by cigarette smoking. The major symptoms of which patients complain are cough, breathlessness, and sputum production ...	Respiratory system disease		SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388]
H01716	Idiopathic interstitial pneumonias	... interstitial pneumonia (AIP). And they are divided into three major groups; chronic fibrosing IIP (IPF, NSIP), smoking-related IIP (RB-ILD, DIP), and acute/ subacute IIP (COP, AIP). The rare IIPs include idiopathic ...	Respiratory system disease
H02118	Agnathia-otocephaly complex Otocephaly	... identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs ...	Congenital malformation		PRRX1 [HSA:5396] [KO:K09329]
H02234	Hamamy syndrome	... sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.	Congenital malformation		IRX5 [HSA:10265] [KO:K24889]
H02420	Head and neck cancer	... soft palate. Although head and neck squamous cell carcinoma (HNSCC) is traditionally associated with smoking and alcohol drinking, a growing proportion of head and neck tumors, mainly of the oropharynx, ...	Cancer
H02610	Head and neck squamous cell carcinoma	... most common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk factors for HNSCC. Additionally, human papillomavirus infection ...	Cancer		TNFRSF10B [HSA:8795] [KO:K04722] ING1 [HSA:3621] [KO:K19197]

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