EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   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. |
therapeutic application |
1 |
| 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. |
unassigned |
0 |
| 3.1.3.56 | Neoplasms |
26170120 |
Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region. |
causal interaction |
3 |
| 3.1.3.56 | Neoplasms |
26170120 |
Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region. |
unassigned |
0 |
| 3.1.3.56 | Parkinson Disease |
29607885 |
Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease. |
causal interaction |
2 |
| 3.1.3.56 | Parkinson Disease |
29607885 |
Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease. |
unassigned |
0 |
| 3.1.3.56 | Muscular Dystrophies |
33879025 |
Bidirectional interconversion between PtdIns4P and PtdIns(4,5)P2 is required for autophagic lysosome reformation and protection from skeletal muscle disease. |
causal interaction |
4 |
| 3.1.3.56 | Muscular Dystrophies |
33879025 |
Bidirectional interconversion between PtdIns4P and PtdIns(4,5)P2 is required for autophagic lysosome reformation and protection from skeletal muscle disease. |
unassigned |
0 |
| 3.1.3.56 | Neoplasms |
25955013 |
Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN. |
causal interaction |
2 |
| 3.1.3.56 | Neoplasms |
25955013 |
Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN. |
unassigned |
0 |
