rs121918130, INPP5E

N. diseases: 18
Disease: Joubert syndrome 1 ×
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