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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00507 | Dyskeratosis congenita | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | Ribosomopathy |
(DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] (DKCD) TYMS [HSA:7298] [KO:K00560] |
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| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused ... | Hematologic disease |
(PFBMFT1) TERT [HSA:7015] [KO:K11126] (PFBMFT2) TERC [HSA:7012] [KO:K22183] (PFBMFT3) RTEL1 [HSA:51750] [KO:K11136] (PFBMFT4) PARN [HSA:5073] [KO:K01148] (PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128] (PFBMFT6) RPA1 [HSA:6117] [KO:K07466] (PFBMFT7) NAF1 [HSA:92345] [KO:K14763] (PFBMFT8) POT1 [HSA:25913] [KO:K11109] (PFBMFT9) NOP10 [HSA:55505] [KO:K11130] |
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