Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763992407
rs763992407
INPP5E
0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs763992407
rs763992407
INPP5E
0.700 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536

2013
dbSNP: rs763992407
rs763992407
INPP5E
0.700 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs763992407
rs763992407
INPP5E
0.700 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009