Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		0.100 Biomarker phenotype HPO
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		0.100 Biomarker phenotype HPO
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		0.100 Biomarker phenotype HPO
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.010 GeneticVariation disease BEFREE The randomized study of endovascular therapy with versus without intravenous tissue plasminogen activator in acute stroke with ICA and M1 occlusion (SKIP study). 30924762 2019
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: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.010 Biomarker disease BEFREE We functionally confirmed this association in siRNA knockdown experiments of five PGC genes (p53CSV, MAP3K11, MTCH2, CPSF6, and SKIP), which either directly enhanced the invasive capacities or inhibited the proliferation of AGS cancer cells. 18636107 2008
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: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		0.100 Biomarker phenotype HPO
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: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
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: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		0.100 Biomarker disease HPO
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE SKIP expression is correlated with clinical prognosis in patients with bladder cancer. 24817966 2014
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Expression and prognostic role of SKIP in human breast carcinoma. 24150787 2014
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE SKIP expression is correlated with clinical prognosis in patients with bladder cancer. 24817966 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 Biomarker group BEFREE Two cohorts initially recruited to study predictors of cardiovascular disease (the PPS cohort and the GOT-MONICA cohort) were followed from 1990 to 2011. 28600978 2017
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: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease HPO