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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00222 |
Afibrinogenemia Dysfibrinogenemia |
Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type ... | Hematologic disease |
FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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| H00223 |
Inherited thrombophilia Thrombophilia due to thrombin defect (THPH) |
Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. | Hematologic disease |
(THPH1) F2 [HSA:2147] [KO:K01313] (THPH2) F5 [HSA:2153] [KO:K03902] (THPH3/4) PROC [HSA:5624] [KO:K01344] (THPH5/6) PROS1 [HSA:5627] [KO:K03908] (THPH7) SERPINC1 [HSA:462] [KO:K03911] (THPH8) F9 [HSA:2158] [KO:K01321] (THPH10) SERPIND1 [HSA:3053] [KO:K03912] (THPH11) HRG [HSA:3273] [KO:K23410] (THPH12) THBD [HSA:7056] [KO:K03907] (THPH13) F8 [HSA:2157] [KO:K03899] FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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| H00845 | Familial amyloidosis | The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration ... | 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] |
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