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Entry Name Description Category Pathway Gene
H00226 Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H01235 Bleeding disorder platelet-type Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... Hematologic disease (BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348]
(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
(BDPLT11) GP6 [HSA:51206] [KO:K06264]
(BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT17) GFI1B [HSA:8328] [KO:K09223]
(BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
(BDPLT21) FLI1 [HSA:2313] [KO:K09436]
(BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(BDPLT25) TPM4 [HSA:7171] [KO:K10375]
ITGA2 [HSA:3673] [KO:K06481]
H01740 Macrothrombocytopenia Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... Hematologic disease (MATINS) MYH9 [HSA:4627] [KO:K10352]
(BSS) GP1BA [HSA:2811] [KO:K06261]
(BSS) GP1BB [HSA:2812] [KO:K06262]
(BSS) GP9 [HSA:2815] [KO:K06263]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
(MACTHC1) TUBB1 [HSA:81027] [KO:K07375]
(MACTHC2) TUBA8 [HSA:51807] [KO:K07374]
GATA1 [HSA:2623] [KO:K09182]
VWF [HSA:7450] [KO:K03900]
DIAPH1 [HSA:1729] [KO:K05740]
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