Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Comparison of clinical phenotype of all the known affected individuals, including LUCC15 family, homozygous for INPP5K alleles revealed reduced penetrance of muscular dystrophy and intellectual disability. 28940338 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Altogether these data demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability. 28190459 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Altogether these data demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability. 28190459 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.110 GeneticVariation disease BEFREE Comparison of clinical phenotype of all the known affected individuals, including LUCC15 family, homozygous for INPP5K alleles revealed reduced penetrance of muscular dystrophy and intellectual disability. 28940338 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.110 GeneticVariation disease BEFREE Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract. 28940338 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Both PTEN-deficient (U-251) and PTEN-containing (LN229) glioblastoma cells showed a decrease in cell migration velocity in response to SKIP downregulation. 30695232 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Here we have screened PTEN-deficient glioblastoma for SKIP protein expression by immunohistochemistry and report that SKIP expression is increased in some cases or decreased relative to normal brain. 25241900 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.020 Biomarker disease BEFREE MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project. 24917043 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE Collectively, these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma. 23443536 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Collectively, these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma. 23443536 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Therefore, SKIP expression in glioblastoma may affect the local invasion of PTEN-deficient tumors. 25241900 2015
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome 		0.020 Biomarker disease BEFREE The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. 9593760 1998
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome 		0.020 Biomarker disease BEFREE The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 7761412 1995
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Here we have screened PTEN-deficient glioblastoma for SKIP protein expression by immunohistochemistry and report that SKIP expression is increased in some cases or decreased relative to normal brain. 25241900 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Both PTEN-deficient (U-251) and PTEN-containing (LN229) glioblastoma cells showed a decrease in cell migration velocity in response to SKIP downregulation. 30695232 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 AlteredExpression disease BEFREE Here we have screened PTEN-deficient glioblastoma for SKIP protein expression by immunohistochemistry and report that SKIP expression is increased in some cases or decreased relative to normal brain. 25241900 2015
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 AlteredExpression disease BEFREE Both PTEN-deficient (U-251) and PTEN-containing (LN229) glioblastoma cells showed a decrease in cell migration velocity in response to SKIP downregulation. 30695232 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Both PTEN-deficient (U-251) and PTEN-containing (LN229) glioblastoma cells showed a decrease in cell migration velocity in response to SKIP downregulation. 30695232 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Here we have screened PTEN-deficient glioblastoma for SKIP protein expression by immunohistochemistry and report that SKIP expression is increased in some cases or decreased relative to normal brain. 25241900 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Since microtubule - Tau organization and dynamics is central in axonal microtubule cytoskeleton and transport, tightly related to aging processes and Alzheimer's disease, our current study provides a compelling molecular explanation to the <i>in vivo</i> activity of SKIP, placing SKIP motif as a central focus for MT-based neuroprotection in tauopathies with axonal transport implications. 31632241 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE They reported their age, gender, nationality, marital status, education and employment status, and completed two psychological questionnaires (PPS-4 and the anxiety and depression scales of the Symptom Checklist-90-Revised, SCL 90-R). 29434563 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE They reported their age, gender, nationality, marital status, education and employment status, and completed two psychological questionnaires (PPS-4 and the anxiety and depression scales of the Symptom Checklist-90-Revised, SCL 90-R). 29434563 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Celastrol-loaded PEG-b-PPS nanocarriers as an anti-inflammatory treatment for atherosclerosis. 30601470 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Celastrol-loaded PEG-b-PPS nanocarriers as an anti-inflammatory treatment for atherosclerosis. 30601470 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 Biomarker group BEFREE Taken together, the findings argue for a relationship between the malleability of PPS, interoceptive accuracy, and an inclination toward aberrant ideation often associated with mental illness. 29653377 2018