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| Lysosomal Storage Disorder v0.52 | CTSK | Zornitza Stark Classified gene: CTSK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.52 | CTSK | Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.51 | CTSK | Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Marked gene: CTSK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Classified gene: CTSK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.5 | CTSK |
Elena Savva gene: CTSK was added gene: CTSK was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337 Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 Review for gene: CTSK was set to AMBER Added comment: OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects. PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found. Sources: Expert list |
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