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Entry Name Description Category Pathway Gene
H00535 Lymphatic malformation Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic ... Congenital malformation (LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097]
(LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619]
(LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449]
(LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
(LMPHM7) EPHB4 [HSA:2050] [KO:K05113]
(LMPHM8) CALCRL [HSA:10203] [KO:K04577]
(LMPHM9) CELSR1 [HSA:9620] [KO:K04600]
(LMPHM10) ANGPT2 [HSA:285] [KO:K05466]
(LMPHM11) TIE1 [HSA:7075] [KO:K05120]
(LMPHM12) MDFIC [HSA:29969]
(LMPHM13) THSD1 [HSA:55901] [KO:K24433]
(LMPHM14) ERG [HSA:2078] [KO:K09435]
H02199 Congenital heart defects, multiple type Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... Congenital malformation (CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
(CHTD8) SMAD2 [HSA:4087] [KO:K04500]
(CHTD9) PLXND1 [HSA:23129] [KO:K06822]
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