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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00811 | Distal arthrogryposis | Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA ... | Congenital malformation |
(DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374] (DA1B) MYBPC1 [HSA:4604] [KO:K12557] (DA1C) MYL11 [HSA:29895] [KO:K12758] (DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220] (DA2B1) TNNI2 [HSA:7136] [KO:K12043] (DA2B2) TNNT3 [HSA:7140] [KO:K12046] (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128] (DA5D) ECEL1 [HSA:9427] [KO:K09610] (DA7) MYH8 [HSA:4626] [KO:K24220] (DA9) FBN2 [HSA:2201] [KO:K23342] (DA11) MET [HSA:4233] [KO:K05099] (DA12) ADAMTS15 [HSA:170689] [KO:K08629] |
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