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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02249 | Primrose syndrome | ... and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients. | Congenital malformation | ZBTB20 [HSA:26137] [KO:K10501] | |
| H02308 | Immunodeficiency-centromeric instability-facial anomalies syndrome | ... methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 gene. Recently, it has been reported that mutations in CDCA7 and HELLS cause ICF syndrome. | Immune system disease |
(ICF1) DNMT3B [HSA:1789] [KO:K17399] (ICF2) ZBTB24 [HSA:9841] [KO:K10503] (ICF3) CDCA7 [HSA:83879] [KO:K23408] (ICF4) HELLS [HSA:3070] [KO:K19001] |
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