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Entry Name Description Category Pathway Gene
H00096 Defects of toll-like receptor signaling Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H01621 Pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance ... Cardiovascular disease (PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(PPH6) CAPNS1 [HSA:826] [KO:K08583]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01866 Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis ... pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD. Cardiovascular disease (PVOD1) BMPR2 [HSA:659] [KO:K04671]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
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