Disease: Joubert syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
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
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
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