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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00438 |
Nasu-Hakola disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
... and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia ... | Inherited metabolic disorder |
(PLOSL1) DAP12 [HSA:7305] [KO:K07992] (PLOSL2) TREM2 [HSA:54209] [KO:K14378] |
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| H00625 |
Tooth agenesis Hypodontia |
Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... | Congenital malformation |
(STHAG1) MSX1 [HSA:4487] [KO:K09341] (STHAG3) PAX9 [HSA:5083] [KO:K09382] (STHAG4) WNT10A [HSA:80326] [KO:K01357] (STHAG7) LRP6 [HSA:4040] [KO:K03068] (STHAG8) WNT10B [HSA:7480] [KO:K01357] (STHAG9) GREM2 [HSA:64388] [KO:K23318] (STHAG10) TSPEAR [HSA:54084] [KO:K24437] (STHAGX1) EDA [HSA:1896] [KO:K05480] (DASS) LTBP3 [HSA:4054] [KO:K08023] |
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| H00687 | Fraser syndrome | Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities ... | Congenital malformation |
FRAS1 [HSA:80144] [KO:K23379] GRIP1 [HSA:23426] [KO:K20251] FREM2 [HSA:341640] [KO:K23380] |
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