Disease: Joubert syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 31173343 2019
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 GeneticVariation disease UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders. 26748598 2016
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 GeneticVariation disease UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 GeneticVariation disease UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish. 23022135 2012
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 GeneticVariation disease UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease CTD_human Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND