EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   3.1.3.56 | Oculocerebrorenal Syndrome |
23692838 |
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. |
unassigned |
0 |
| 3.1.3.56 | Oculocerebrorenal Syndrome |
24614960 |
A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome. |
causal interaction |
4 |
| 3.1.3.56 | Oculocerebrorenal Syndrome |
24614960 |
A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
causal interaction |
4 |
| 3.1.3.56 | Cataract |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
therapeutic application |
1 |
| 3.1.3.56 | Cataract |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
unassigned |
0 |
| 3.1.3.56 | Intellectual Disability |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
causal interaction |
4 |
| 3.1.3.56 | Intellectual Disability |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
therapeutic application |
1 |
| 3.1.3.56 | Intellectual Disability |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
unassigned |
0 |
| 3.1.3.56 | Muscular Dystrophies |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
causal interaction |
4 |
