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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01439 | Williams-Beuren syndrome | Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include ... | Chromosomal abnormality |
ELN [HSA:2006] [KO:K14211] LIMK1 [HSA:3984] [KO:K05743] CLIP2 [HSA:7461] [KO:K10422] RFC2 [HSA:5982] [KO:K10755] BCL7B [HSA:9275] [KO:K25605] GTF2I [HSA:2969] [KO:K03121] GTF2IRD [HSA:9569] [KO:K27274] EIF4H [HSA:7458] [KO:K24086] TBL2 [HSA:26608] [KO:K23325] MLXIPL [HSA:51085] [KO:K09113] FKBP6 [HSA:8468] [KO:K09572] BAZ1B [HSA:9031] [KO:K11658] CLDN3 [HSA:1365] [KO:K06087] CLDN4 [HSA:1364] [KO:K06087] DNAJC30 [HSA:84277] [KO:K19374] LAT2 [HSA:7462] [KO:K26356] FZD9 [HSA:8326] [KO:K02842] STX1A [HSA:6804] [KO:K04560] SPDYE1 [HSA:285955] [KO:K08694] NSUN5 [HSA:55695] [KO:K15264] ABHD11 [HSA:83451] [KO:K13703] TRIM50 [HSA:135892] [KO:K12024] VPS37D [HSA:155382] [KO:K12185] WBSCR22 [HSA:114049] [KO:K19306] WBSCR16 [HSA:64409] [KO:K00710] WBSCR17 [HSA:81554] [KO:K23495] WBSCR27 [HSA:155368] [KO:K24419] WBSCR28 [HSA:135886] |
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