Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
0.700 GeneticVariation disease UNIPROT Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. 26073777 2015
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
0.700 Biomarker disease CTD_human
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
0.700 CausalMutation disease CLINVAR
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.430 Biomarker group BEFREE Thus, we investigated whether APPL1 prevents beta cell apoptosis and inflammation in diabetes. 28011992 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.430 Biomarker group BEFREE A deep understanding of APPLs and their related signaling pathways may potentially lead to therapeutic and interventional treatments for obesity, diabetes, cancer and neurodegenerative diseases. 28108259 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.430 GeneticVariation group BEFREE These findings-linking APPL1 mutations to familial forms of diabetes-reaffirm the critical role of APPL1 in glucose homeostasis. 26073777 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.430 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.430 Biomarker group GENOMICS_ENGLAND
Maturity onset diabetes mellitus in young
0.410 GermlineCausalMutation disease ORPHANET Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
Maturity onset diabetes mellitus in young
0.410 GeneticVariation disease BEFREE Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). 26073777 2015
Maturity onset diabetes mellitus in young
0.410 Biomarker disease HPO
CUI: C0011847
Disease: Diabetes
Diabetes
0.330 Biomarker disease BEFREE Thus, we investigated whether APPL1 prevents beta cell apoptosis and inflammation in diabetes. 28011992 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.330 Biomarker disease BEFREE A deep understanding of APPLs and their related signaling pathways may potentially lead to therapeutic and interventional treatments for obesity, diabetes, cancer and neurodegenerative diseases. 28108259 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.330 GeneticVariation disease BEFREE These findings-linking APPL1 mutations to familial forms of diabetes-reaffirm the critical role of APPL1 in glucose homeostasis. 26073777 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 Biomarker disease BEFREE Here we show that the endocytic adaptor molecules APPL1 and APPL2 are required for TGFβ-induced nuclear translocation of TβRI-ICD and for cancer cell invasiveness of human prostate and breast cancer cell lines. 26583432 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 GeneticVariation disease UNIPROT
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0028754
Disease: Obesity
Obesity
0.160 Biomarker disease BEFREE Our data demonstrated the essential role of APPL1 in regulating brown adipocytes thermogenesis via interaction with HDAC3, which may have potential therapeutic implications for treatment of obesity. 31390528 2019
CUI: C0028754
Disease: Obesity
Obesity
0.160 AlteredExpression disease BEFREE The expression levels of APPL1sv in liver tissues were enhanced in a mouse model of obesity and diabetic dyslipidemia (<i>i.e.</i> db/db mice) and reduced in calorie-restricted mice compared with <i>ad libitum</i>-fed mice. 29483192 2018
CUI: C0028754
Disease: Obesity
Obesity
0.160 Biomarker disease BEFREE A deep understanding of APPLs and their related signaling pathways may potentially lead to therapeutic and interventional treatments for obesity, diabetes, cancer and neurodegenerative diseases. 28108259 2017
CUI: C0028754
Disease: Obesity
Obesity
0.160 GeneticVariation disease BEFREE Genes encoding adiponectin and adiponectin receptors contribute to insulin resistance and the risk of obesity, and genetic variants of APPL1 are associated with body fat distribution. 22462604 2012
CUI: C0028754
Disease: Obesity
Obesity
0.160 AlteredExpression disease BEFREE Peak area analysis by MS validated western blot results, showing APPL1 levels to be significantly increased in type 2 diabetic and obese as compared with lean participants. 21562756 2011
CUI: C0028754
Disease: Obesity
Obesity
0.160 AlteredExpression disease BEFREE Transgenic expression of APPL1 prevented age- and obesity-induced impairment in insulin-induced vasodilation and reversed obesity-induced augmentation in insulin-evoked ET-1-dependent vasoconstriction. 21926268 2011