Human genetics as a model for target validation: finding new therapies for diabetes.

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Annotation Summary

Term Occurence Count Dictionary
diabetes mellitus 1 endocrinologydiseases
obesity 2 endocrinologydiseases
renal glycosuria 1 endocrinologydiseases

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Select Disease Character Offset Disease Term Instance
diabetes mellitus 26958 medicine.Proof of concept has been provided by a life-changing treatment for individuals with permanent neonatal diabetes mellitus (PNDM). Genetic studies on PNDM has led to the realisation that a subset of individuals harbour mutations
obesity 20350 disorder, known as Cowden’s syndrome, has offered new clues into a possible link between type 2 diabetes, obesity and cancer, as initially suggested by epidemiological data [[53]]. The majority of patients suffering
obesity 21042 found individuals with Cowden’s syndrome to be profoundly insulin sensitive, even in the face of obesity [[55]]. This provides a dramatic example of the sometimes overlapping effects of intracellular signalling
renal glycosuria 19639 development of synthetic analogues for use in humans [[50]]. Nevertheless, the discovery that familial renal glycosuria is caused by genetic variants in the gene encoding SGLT2 (SLC5A2) provided an opportunity to test for

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