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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00852 | Klippel-Feil syndrome | ... caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified. | Congenital malformation |
(KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |