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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00476 | Multiple epiphyseal dysplasia | ... epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness ... | Congenital malformation |
(EDM1) COMP [HSA:1311] [KO:K04659] (EDM2) COL9A2 [HSA:1298] [KO:K08131] (EDM3) COL9A3 [HSA:1299] [KO:K08131] (EDM4) DTDST [HSA:1836] [KO:K14701] (EDM5) MATN3 [HSA:4148] [KO:K19467] (EDM6) COL9A1 [HSA:1297] [KO:K08131] (EDM7) CANT1 [HSA:124583] [KO:K12304] (EDMMD) COL2A1 [HSA:1280] [KO:K19719] |
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| H02072 | Stickler syndrome | Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy ... | Congenital malformation |
(STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (STL3) COL11A2 [HSA:1302] [KO:K19721] (STL4) COL9A1 [HSA:1297] [KO:K08131] (STL5) COL9A2 [HSA:1298] [KO:K08131] (STL6) COL9A3 [HSA:1299] [KO:K08131] |
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| H02539 | Intervertebral disc disease | Intervertebral disc degeneration (IDD) is a common musculoskeletal disease associated with genetic factors. | Musculoskeletal disease |
COL11A1 [HSA:1301] [KO:K19721] COL9A3 [HSA:1299] [KO:K08131] THBS2 [HSA:7058] [KO:K04659] ASPN [HSA:54829] [KO:K08120] CILP [HSA:8483] [KO:K24436] |
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