rs1431917892
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Familial aplasia of the vermis
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
rs1564430716
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Familial aplasia of the vermis
|
C |
0.700 |
CausalMutation |
CLINVAR |
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
|
19668215 |
2009 |
rs746867724
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs752300607
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs754637179
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs757222534
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs775518991
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs780882740
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225197
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225198
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225199
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225200
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225201
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs863225202
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
G |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs1127152
|
SEC16A;INPP5E
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs121918128
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
rs121918128
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective ciliogenesis in INPP5E-related Joubert syndrome.
|
29052317 |
2017 |
rs121918128
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
|
23034536 |
2013 |
rs121918128
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
rs121918129
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Joubert syndrome.
|
21448235 |
2011 |
rs121918129
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
rs121918129
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
|
23034536 |
2013 |
rs121918129
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
rs121918129
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective ciliogenesis in INPP5E-related Joubert syndrome.
|
29052317 |
2017 |
rs121918130
|
Entrez Id: |
56623 |
Gene Symbol: |
INPP5E |
INPP5E
|
Joubert syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective ciliogenesis in INPP5E-related Joubert syndrome.
|
29052317 |
2017 |