|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
|
31173343 |
2019 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Defective ciliogenesis in INPP5E-related Joubert syndrome.
|
29052317 |
2017 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
|
26748598 |
2016 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
|
23034536 |
2013 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
|
23386033 |
2013 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
|
23022135 |
2012 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
|
19668216 |
2009 |
|
| Entrez Id: |
56623 |
| Gene Symbol: |
INPP5E |
INPP5E
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
153241 |
| Gene Symbol: |
CEP120 |
CEP120
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
|
27208211 |
2016 |
|
| Entrez Id: |
153241 |
| Gene Symbol: |
CEP120 |
CEP120
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
|
27208211 |
2016 |
|
| Entrez Id: |
79600 |
| Gene Symbol: |
TCTN1 |
TCTN1
|
0.500 |
Biomarker
|
disease |
CTD_human |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
|
| Entrez Id: |
79600 |
| Gene Symbol: |
TCTN1 |
TCTN1
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
|
| Entrez Id: |
65250 |
| Gene Symbol: |
CPLANE1 |
CPLANE1
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
|
| Entrez Id: |
54806 |
| Gene Symbol: |
AHI1 |
AHI1
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
|
| Entrez Id: |
65250 |
| Gene Symbol: |
CPLANE1 |
CPLANE1
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
|
| Entrez Id: |
54806 |
| Gene Symbol: |
AHI1 |
AHI1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
65250 |
| Gene Symbol: |
CPLANE1 |
CPLANE1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
403 |
| Gene Symbol: |
ARL3 |
ARL3
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
|
30269812 |
2018 |
|
| Entrez Id: |
80210 |
| Gene Symbol: |
ARMC9 |
ARMC9
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
|
28625504 |
2017 |
|
| Entrez Id: |
219844 |
| Gene Symbol: |
HYLS1 |
HYLS1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
|
26830932 |
2016 |