Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Joubert syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Defective ciliogenesis in INPP5E-related Joubert syndrome. | 29052317 | 2017 | |||||
Joubert syndrome 1
|
0.800 | GeneticVariation | UNIPROT | The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. | 23034536 | 2013 | |||||
Joubert syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. | 23386033 | 2013 | |||||
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 | |||||
Joubert syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Familial aplasia of the vermis
|
0.700 | GeneticVariation | CLINVAR | Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 19668216 | 2009 | |||||
Preaxial foot polydactyly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Defect of vertebral segmentation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital hemivertebra
|
0.700 | CausalMutation | CLINVAR | ||||||||
Chronic lung disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Respiratory Failure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Micrognathism
|
0.700 | CausalMutation | CLINVAR | ||||||||
Patent ductus arteriosus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Absent epiphyses
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital hypoplasia of femur
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lung Diseases, Interstitial
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital clubfoot
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pseudarthrosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Uranostaphyloschisis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Skeletal dysplasia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypoplasia of spine
|
0.700 | CausalMutation | CLINVAR | ||||||||
Coat hanger sign of ribs
|
0.700 | CausalMutation | CLINVAR |