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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01902 | Brittle cornea syndrome | ... hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular ... | Congenital malformation |
(BCS1) ZNF469 [HSA:84627] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |