EC Number   |
Disease   |
PubMed ID   |
Title of Publication   |
Category   |
Confidence Level   |
|---|
 3.1.3.56 | Muscular Diseases |
33792664 |
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. |
causal interaction |
4 |
 3.1.3.56 | Muscular Diseases |
33792664 |
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. |
unassigned |
0 |
 3.1.3.56 | Neoplasms |
33488112 |
The Prognostic Value of DNA Methylation, Post-Translational Modifications and Correlated with Immune Infiltrates in Gynecologic Cancers. |
causal interaction |
3 |
 3.1.3.56 | Neoplasms |
33488112 |
The Prognostic Value of DNA Methylation, Post-Translational Modifications and Correlated with Immune Infiltrates in Gynecologic Cancers. |
diagnostic usage |
4 |
 3.1.3.56 | Neoplasms |
33488112 |
The Prognostic Value of DNA Methylation, Post-Translational Modifications and Correlated with Immune Infiltrates in Gynecologic Cancers. |
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 |