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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02251 |
Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome |
... calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand ... | Nervous system disease |
(CRMCC1) CTC1 [HSA:80169] [KO:K23311] (CRMCC2) STN1 [HSA:79991] [KO:K23312] (CRMCC3) POT1 [HSA:25913] [KO:K11109] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |