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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]
H02717 Contractures, pterygia, and spondylocarpotarsal fusion syndrome ... neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Mutations of MYH3 (myosin heavy chain 3) are responsible for this disease. MYH3 is mainly expressed in embryonic development ... Congenital malformation MYH3 [HSA:4621] [KO:K24220]
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