rs121918130, INPP5E

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
Joubert syndrome 1
CUI: C4551568
Disease: 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
CUI: C4551568
Disease: 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
CUI: C4551568
Disease: Joubert syndrome 1
0.800 CausalMutation CLINVAR
Familial aplasia of the vermis
CUI: C0431399
Disease: 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
CUI: C2112942
Disease: Preaxial foot polydactyly
0.700 CausalMutation CLINVAR
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
0.700 CausalMutation CLINVAR
Congenital hemivertebra
CUI: C0265677
Disease: Congenital hemivertebra
0.700 CausalMutation CLINVAR
Chronic lung disease
CUI: C0746102
Disease: Chronic lung disease
0.700 CausalMutation CLINVAR
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
0.700 CausalMutation CLINVAR
Absent epiphyses
CUI: C4021862
Disease: Absent epiphyses
0.700 CausalMutation CLINVAR
Congenital hypoplasia of femur
CUI: C0345375
Disease: Congenital hypoplasia of femur
0.700 CausalMutation CLINVAR
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.700 CausalMutation CLINVAR
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
0.700 CausalMutation CLINVAR
Pseudarthrosis
CUI: C0033785
Disease: Pseudarthrosis
0.700 CausalMutation CLINVAR
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.700 CausalMutation CLINVAR
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.700 CausalMutation CLINVAR
Hypoplasia of spine
CUI: C0345394
Disease: Hypoplasia of spine
0.700 CausalMutation CLINVAR
Coat hanger sign of ribs
CUI: C4025010
Disease: Coat hanger sign of ribs
0.700 CausalMutation CLINVAR