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Entry Name Description Category Pathway Gene
H01132 Aplastic anemia Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence ... Hematologic disease TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
PRF1 [HSA:5551] [KO:K07818]
SBDS [HSA:51119] [KO:K14574]
NBN [HSA:4683] [KO:K10867]
H01344 Nijmegen breakage syndrome ... retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due ... Immune system disease (NBS) NBN (Nibrin) [HSA:4683] [KO:K10867]
(NBSLD) RAD50 [HSA:10111] [KO:K10866]
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