Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease BEFREE Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic defects, including renal cyst formation, linking phosphoinositides to ciliopathies. 27401686 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease BEFREE Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. 29052317 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease BEFREE Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E. 27927754 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease BEFREE Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. 26490104 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease BEFREE Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6D. 24166846 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease BEFREE Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease GENOMICS_ENGLAND Previous studies have implicated primary cilia abnormalities in Joubert syndrome, yet the role of INPP5E in cilia formation is not well understood. 23022135 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 CausalMutation disease CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GermlineCausalMutation disease ORPHANET INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease CLINVAR INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease CTD_human INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GeneticVariation disease BEFREE So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. 12908130 2003
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease HPO
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identified the likely causes of disease as a novel homozygous frameshift mutation (NM_152384.2: c.196delA; p.(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. 31173343 2019
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GeneticVariation disease BEFREE Whole-exome sequencing identified the likely causes of disease as a novel homozygous frameshift mutation (NM_152384.2: c.196delA; p.(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. 31173343 2019
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish. 23022135 2012
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GermlineCausalMutation disease ORPHANET In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GeneticVariation disease BEFREE In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009