EC Number   |
Disease   |
PubMed ID   |
Title of Publication   |
Category |
Confidence Level |
|---|
3.4.22.B35 | Anophthalmos |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
therapeutic application |
1 |
3.4.22.B35 | Anophthalmos |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
ongoing research |
3 |
3.4.22.B35 | Anophthalmos |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
unassigned |
0 |
3.4.22.B35 | Cataract |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
therapeutic application |
1 |
3.4.22.B35 | Cataract |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
ongoing research |
3 |
3.4.22.B35 | Cataract |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
unassigned |
0 |
3.4.22.B35 | Coloboma |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
therapeutic application |
1 |
3.4.22.B35 | Coloboma |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
ongoing research |
3 |
3.4.22.B35 | Coloboma |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
unassigned |
0 |
3.4.22.B35 | Deafness |
32885237 |
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. |
therapeutic application |
1 |