Entity Details
Primary name |
ADAMTS18 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 170692 |
RefseqGene | NG_031879 |
Symbol | ADAMTS18 |
Name | ADAM metallopeptidase with thrombospondin type 1 motif 18 |
Chromosome | 16 |
Location | 16q23.1 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2002-02-13 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
615458 | OMIM | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) | A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions