EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
   3.1.3.56 | Alzheimer Disease |
27750211 |
INPP5D rs35349669 polymorphism with late-onset Alzheimer's disease: A replication study and meta-analysis. |
causal interaction |
4 |
| 3.1.3.56 | Ataxia |
26051944 |
Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice. |
causal interaction |
2 |
| 3.1.3.56 | Ataxia |
33792664 |
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. |
causal interaction |
4 |
| 3.1.3.56 | Carcinoma |
31437542 |
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma. |
causal interaction |
4 |
| 3.1.3.56 | Carcinoma, Squamous Cell |
31437542 |
Prognostic Value of Inositol Polyphosphate-5-Phosphatase Expression in Recurrent and Metastatic Cutaneous Squamous Cell Carcinoma. |
causal interaction |
4 |
| 3.1.3.56 | Cardiomegaly |
19875726 |
Inpp5f Is a Polyphosphoinositide Phosphatase That Regulates Cardiac Hypertrophic Responsiveness. |
causal interaction |
3 |
| 3.1.3.56 | Cataract |
28190456 |
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. |
causal interaction |
4 |
| 3.1.3.56 | Cataract |
28940338 |
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. |
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. |
causal interaction |
4 |
| 3.1.3.56 | Cataract |
28190459 |
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. |
causal interaction |
3 |
