Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
Hypothyroidism
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Dent Disease 2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
|
28018608 |
2016 |
Oculocerebrorenal Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
These results suggest that the functions of OCRL/INPP5B and proton-chloride exchange transporter 5 converge on shared mechanisms, the impairment of which has a dramatic effect on proximal tubule endocytosis.
|
27895154 |
2017 |
Oculocerebrorenal Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Altogether, we describe here differential phenotypes between fibroblasts from Lowe and Dent-2 patients, both associated with OCRL LOF mutations, we exclude direct roles of PI(4,5)P2 and INPP5B in this phenotypic variability and we underline potential key alterations leading to ocular and neurological clinical features in Lowe syndrome.
|
25305077 |
2015 |
Oculocerebrorenal Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
|
23805271 |
2013 |
Oculocerebrorenal Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
These observations form the foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function and, by providing insight into the cellular roles of Ocrl and Inpp5b, aid in the development of a model system in which to study Lowe syndrome.
|
20872266 |
2010 |
Oculocerebrorenal Syndrome
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Several studies have revealed that the molecular basis of Lowe's syndrome is due to mutations in the 5-ptase OCRL (oculocerebrorenal syndrome of Lowe).
|
19272022 |
2009 |
Oculocerebrorenal Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
|
9593760 |
1998 |
Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, we compared phosphoinositide 5-phosphatases expression in glioblastoma primary cells and cell lines and showed that SHIP2 and SKIP expression greatly varies between different cell types, while OCRL, another phosphoinositide 5-phosphatase, is constitutively expressed.
|
30695232 |
2019 |
Adult Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, we compared phosphoinositide 5-phosphatases expression in glioblastoma primary cells and cell lines and showed that SHIP2 and SKIP expression greatly varies between different cell types, while OCRL, another phosphoinositide 5-phosphatase, is constitutively expressed.
|
30695232 |
2019 |
Childhood Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, we compared phosphoinositide 5-phosphatases expression in glioblastoma primary cells and cell lines and showed that SHIP2 and SKIP expression greatly varies between different cell types, while OCRL, another phosphoinositide 5-phosphatase, is constitutively expressed.
|
30695232 |
2019 |
Glioblastoma Multiforme
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, we compared phosphoinositide 5-phosphatases expression in glioblastoma primary cells and cell lines and showed that SHIP2 and SKIP expression greatly varies between different cell types, while OCRL, another phosphoinositide 5-phosphatase, is constitutively expressed.
|
30695232 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
WES analysis of the ALS family identified the rare heterozygous frameshift variant FIG4:c.759delG, p.(F254Sfs*8) predicted to delete the catalytic domain and active center from the encoded phosphoinositide 5-phosphatase with a key role in endosomal vesicle trafficking.
|
28051077 |
2017 |
Muscular Dystrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These data link congenital muscular dystrophies to defective phosphoinositide 5-phosphatase activity that is becoming increasingly recognized for its role in mediating pivotal cellular mechanisms contributing to disease.
|
28190456 |
2017 |
Familial aplasia of the vermis
|
0.010 |
Biomarker
|
disease |
BEFREE |
ARL13B (a small GTPase) and INPP5E (a phosphoinositide 5-phosphatase) are ciliary proteins encoded by causative genes of Joubert syndrome.
|
27927754 |
2017 |
Mild cognitive disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
|
28190456 |
2017 |
Glaucoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood.
|
23805271 |
2013 |
Cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood.
|
23805271 |
2013 |
Bilateral cataracts (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood.
|
23805271 |
2013 |
Atrophy of testis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We created mice deficient in Inpp5b; the mice were viable and fertile without phenotype except for testicular degeneration in males beginning after sexual maturation.
|
9593760 |
1998 |