Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		0.300 Biomarker group CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0030846
Disease: Penile Diseases
Penile Diseases 		0.300 Biomarker group CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		0.300 GermlineCausalMutation disease ORPHANET Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.300 Biomarker disease CTD_human Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.300 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
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: 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: 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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.110 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 Biomarker disease HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO