Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.100 GeneticVariation phenotype GWASDB Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. 22003120 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE No differences were found between ASD and TD samples except when the aminophospholipid translocase was blocked by N-ethylmaleimide, upon which an increased amount of PS was found to face the outer membrane in RBC from ASD. 30607218 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 AlteredExpression disease BEFREE Mice with augmented levels of Atp8a1 may therefore serve as a potential model in autism research. 27287255 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE A regulation mechanism of miR-140-3p for the development and progression of NSCLC through downregulating the ATP8A1 expression was first discovered in the present study. 26415732 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE MiR-140-3p suppressed cell growth and invasion by downregulating the expression of ATP8A1 in non-small cell lung cancer. 26415732 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.010 AlteredExpression disease BEFREE Our findings point to a critical role of ATP8B1 in apical membrane organization that is unrelated to its presumed aminophospholipid translocase activity, yet potentially relevant for the development of cholestasis and the manifestation of extrahepatic features associated with ATP8B1 deficiency. 20512993 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes. 12105293 2002
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.010 GeneticVariation disease BEFREE A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. 11326269 2001