Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GeneticVariation disease BEFREE This review focuses on the mutations associated with opsismodysplasia and explores the role of INPPL1/ SHIP2 in skeletal development. 27708270 2017
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease BEFREE SHIP2 has a confirmed role in opsismodysplasia, a disease of bone development, but also interacts with proteins involved in insulin signalling, cytoskeletal function (thus having an impact on endocytosis, adhesion, proliferation and apoptosis) and immune system function. 27907247 2017
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease BEFREE The INPPL1 gene that encodes SHIP2 has been found to be mutated in several cases of opsismodysplasia (OPS), a rare autosomal recessive chondrodysplasia characterized by growth plate defects and delayed bone maturation. 28869677 2017
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GermlineCausalMutation disease ORPHANET Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases. 23273567 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GermlineCausalMutation disease ORPHANET Application of solid-phase extraction to agar-supported fermentation. 23263569 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GeneticVariation disease UNIPROT Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 CausalMutation disease CLINVAR Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases. 23273567 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GeneticVariation disease BEFREE Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease BEFREE Our results further support that INPPL1 is the disease gene for opsismodysplasia and that opsismodysplasia has genetic heterogeneity. 23552673 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 GeneticVariation disease BEFREE Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases. 23273567 2013
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		0.760 Biomarker disease CTD_human
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease BEFREE One of the newly identified SHIP2 inhibitors is metformin, the first-line medication prescribed to patients with type 2 diabetes, further boosting the attraction of SHIP2 as a treatment target to ameliorate metabolic disorders. 31342643 2020
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 AlteredExpression disease BEFREE SHIP2 activity is elevated in glomeruli of patients with T2D receiving nonmetformin medication, but not in patients receiving metformin, compared with people without diabetes. 30321069 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease CTD_human In addition, the G allele of SHIP2 (+2945A/G) seemed to increase the susceptibility to hypertension for T2DM patients. 25635986 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease BEFREE In addition, the G allele of SHIP2 (+2945A/G) seemed to increase the susceptibility to hypertension for T2DM patients. 25635986 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease BEFREE Because some single-nucleotide polymorphisms (SNP) of the gene encoding SHIP2 were significantly associated in T2DM patients with metabolic syndrome and some related conditions, we decided to conduct a case-control study on this gene, analyzing AD and T2DM subjects as cases and young, old, and centenarians as controls. 24313349 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease BEFREE Recent studies have suggested that inhibition of SHIP2 could produce significant benefits in treatment of type 2 diabetes. 19694723 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease BEFREE Our data raise the interesting possibility that SHIP2 inhibition exerts proliferative effects in beta-cells and further support the attractiveness of a specific inhibition of SHIP2 for the treatment of type 2 diabetes. 18061583 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease BEFREE Inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) is a negative regulator of insulin signalling and has previously been found to be associated with hypertension, obesity and type 2 diabetes in a cohort of families with diabetes in the UK presenting features of metabolic syndrome. 17557929 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease BEFREE Therefore, SHIP2 remains a significant therapeutic target for the treatment of both obesity and type 2 diabetes. 15964236 2005
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease BEFREE INPPL1 mutations affecting gene function have been found in rat models of type 2 diabetes and hypertension and in type 2 diabetic patients. 15220217 2004
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease BEFREE Altogether, our results show that mutations in the SHIP2 gene contribute to the genetic susceptibility to type 2 diabetes in rats and humans. 12086927 2002
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease CTD_human Altogether, our results show that mutations in the SHIP2 gene contribute to the genetic susceptibility to type 2 diabetes in rats and humans. 12086927 2002