Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease CTD_human
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
CUI: C0028754
Disease: Obesity
Obesity 		0.500 Therapeutic disease RGD Inhibition of 72 kDa inositol polyphosphate 5-phosphatase E improves insulin signal transduction in diet-induced obesity. 23349329 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.500 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease BEFREE Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. 27998989 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease BEFREE Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. 25869670 2015
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		0.300 GermlineCausalMutation disease ORPHANET Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 Biomarker group CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 Biomarker group CTD_human Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009