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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00978 | Thrombocytopenia (THC) | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | Hematologic disease |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
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| H01255 |
Juvenile-onset dystonia Dystonia-deafness syndrome 1 |
... phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities ... | Congenital malformation | ACTB [HSA:60] [KO:K05692] | |
| H02023 | Baraitser-Winter syndrome | ... metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1. | Congenital malformation |
(BRWS1) ACTB [HSA:60] [KO:K05692] (BRWS2) ACTG1 [HSA:71] [KO:K05692] |
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| H02716 | Becker nevus syndrome | ... circumscribed hyperpigmentation with hypertrichosis, and developmental abnormalities of different organ systems. It has been identified that mutations in ACTB, encoding for beta-actin, are associated with BNS. | Congenital malformation | ACTB [HSA:60] [KO:K05692] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |