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 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 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 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 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 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 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: 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 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: 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 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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.110 GeneticVariation disease BEFREE A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. 30235266 2018
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease BEFREE We find that JBTS1 and -3 primarily show features restricted to the central nervous system, with JBTS1 showing largely pure cerebellar and midbrain-hindbrain junction involvement, and JBTS3 displaying cerebellar, midbrain-hindbrain junction, and cerebral cortical features, most notably polymicrogyria. 15786477 2005
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 GeneticVariation disease BEFREE Our study shows that developmental delay, intellectual disability, hypotonia and ocular motor apraxia are common in INPP5E-related disorders and considerable intra-familial phenotypic variability is possible. 26748598 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 GeneticVariation disease BEFREE INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 GeneticVariation disease BEFREE INPP5E is an inositol polyphosphate 5-phosphatase that dephosphorylates phosphoinositide 3-kinase (PI3K)-generated PI(3,4,5)P<sub>3</sub> and is mutated in ciliopathy syndromes. 27056978 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 Biomarker disease BEFREE Together, our data indicate that Inpp5e functions as a key regulator of cell polarity in the renal epithelia, by inhibiting PtdIns(3,4,5)P<sub>3</sub> and subsequently stabilizing PtdIns(4,5)P<sub>2</sub> and recruiting Ezrin, F-actin, and basal bodies to the apical membrane, and suggest a possible novel approach for treating human ciliopathies. 27401686 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 Biomarker disease BEFREE Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause the ciliopathies known as Joubert and MORM syndromes; however, the role of INPP5E in ciliary biology is not well understood. 25395580 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 Biomarker disease BEFREE Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection. 31851930 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 GeneticVariation disease BEFREE None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. 23386033 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 GeneticVariation disease BEFREE In conclusion, our results suggest that the INPP5E: c.1572+5G>A variant is causal for the ciliopathy in Norwich Terriers. 30235266 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.080 GeneticVariation disease BEFREE Our findings expand the molecular spectrum associated with BBS5 mutations in Pakistan and provide further supportive evidence that the INPP5E mutation is a common cause of ciliopathy in Northern Pakistan, likely representing a regional founder mutation. 31173343 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.040 GeneticVariation disease BEFREE Finally, Pip5k1a overexpression rescued the ciliogenesis defects and PKD phenotypes in Inpp5e-depleted embryos. 30321068 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.040 GeneticVariation disease BEFREE Rather β-catenin may play a dual and context-dependent role in PKD and in the presence of other cyst-inducing mutations (Inpp5e-deletion); β-catenin loss may exacerbate disease in a WNT target gene-independent manner. 30265301 2019