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Entry Name Description Category Pathway Gene
H01513 Retinoblastoma The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in ... Cancer RB1 (mutation) [HSA:5925] [KO:K06618]
MDM4 (amplification) [HSA:4194] [KO:K10127]
MDM2 (amplification) [HSA:4193] [KO:K06643]
KIF14 (amplification) [HSA:9928] [KO:K17915]
CDH11 (loss) [HSA:1009] [KO:K06803]
p16/INK (loss) [HSA:1029] [KO:K06621]
H02529 Bone marrow failure syndrome Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. Hematologic disease (BMFS1) SRP72 [HSA:6731] [KO:K03108]
(BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
(BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
(BMFS4) MYSM1 [HSA:114803] [KO:K11865]
(BMFS5) TP53 [HSA:7157] [KO:K04451]
(BMFS6) MDM4 [HSA:4194] [KO:K10127]
(BMFS7) ADH5 [HSA:128] [KO:K00121]
(BMFS8) SLC30A7 [HSA:148867] [KO:K14692]
(BMFDMS) DUT [HSA:1854] [KO:K01520]
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