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: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009