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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02614 | Snijders Blok-Campeau syndrome | ... speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease. CHD3 is a core component of the NuRD complex, which possesses both chromatin ... | Congenital malformation | CHD3 [HSA:1107] [KO:K11642] | |
H02616 | Neurodevelopmental disorder with macrocephaly | ... macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components of the nucleosome remodeling ... | Congenital malformation |
(SNIBCPS) CHD3 [HSA:1107] [KO:K11642] (SIHIWES) CHD4 [HSA:1108] [KO:K11643] (GAND) GATAD2B [HSA:57459] [KO:K23194] (MNDLFH) ZBTB7A [HSA:51341] [KO:K10494] |
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