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Entry Name Description Category Pathway Gene
H02459 Syndromic neurodevelopmental disorder Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... Congenital malformation (NEDALVS) WASF1 [HSA:8936] [KO:K05753]
(NEDCPMD) NFASC [HSA:23114] [KO:K06757]
(NEDIDHA) DOCK3 [HSA:1795] [KO:K05727]
(NEDISHM) ZNF142 [HSA:7701] [KO:K24851]
(NEDSSWI) DHPS [HSA:1725] [KO:K00809]
(NEDMIAL) DHX30 [HSA:22907] [KO:K13185]
(NEDIES) NCDN [HSA:23154]
(NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726]
(NEDSGO) TBC1D2B [HSA:23102] [KO:K20166]
(NEDEGE) NBEA [HSA:26960] [KO:K24183]
(NEDSOA) THUMPD1 [HSA:55623] [KO:K06963]
(NEDLBAS) AGO1 [HSA:26523] [KO:K11593]
(NEDLDS) TIAM1 [HSA:7074] [KO:K05731]
(NEDLC) GABBR1 [HSA:2550] [KO:K04615]
(NEDGBA) ATP9A [HSA:10079] [KO:K26679]
H02505 Atherosclerosis ... a result of the interactions of various genetic and environmental factors. Elevated cholesterol and LDLcholesterol (LDL-C) levels are the main risk factors that associated with the formation of atherosclerotic ... Cardiovascular disease hsa05417 Lipid and atherosclerosis LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
LDLRAP1 [HSA:26119] [KO:K12474]
ABCG5 [HSA:64240] [KO:K05683]
ABCG8 [HSA:64241] [KO:K05684]
LCAT [HSA:3931] [KO:K00650]
ABCA1 [HSA:19] [KO:K05641]
APOA1 [HSA:335] [KO:K08757]
MEF2A [HSA:4205] [KO:K09260]
LRP6 [HSA:4040] [KO:K03068]
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