EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level  |
|---|
   3.1.3.56 | Cardiomegaly |
19875726 |
Inpp5f Is a Polyphosphoinositide Phosphatase That Regulates Cardiac Hypertrophic Responsiveness. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
28190456 |
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. |
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. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
28190459 |
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
33060052 |
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
33792664 |
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. |
unassigned |
0 |
| 3.1.3.56 | Cataract |
28940338 |
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. |
unassigned |
0 |
| 3.1.3.56 | Ciliopathies |
19668216 |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. |
unassigned |
0 |
| 3.1.3.56 | Dehydration |
22573619 |
Inositol polyphosphate 5-phosphatase-controlled Ins(1,4,5)P3/Ca2+ is crucial for maintaining pollen dormancy and regulating early germination of pollen. |
unassigned |
0 |
| 3.1.3.56 | Genetic Diseases, Inborn |
23389333 |
Novel OCRL mutations in Chinese children with Lowe syndrome. |
unassigned |
0 |
