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Entry Name Description Category Pathway Gene
H00886 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
... syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular ... Congenital malformation LRP2 [HSA:4036] [KO:K06233]
H01897 Oocyte/zygote/embryo maturation arrest Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... Reproductive system disease (OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]
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