Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.650 | GeneticVariation | disease | BEFREE | In humans, frameshift mutations in CEL cause maturity-onset diabetes of the young type 8 (MODY8), a monogenic syndrome of diabetes and pancreatic exocrine dysfunction. | 30305605 | 2018 | ||||
|
0.650 | Biomarker | disease | GENOMICS_ENGLAND | Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. | 25160620 | 2014 | ||||
|
0.650 | Biomarker | disease | BEFREE | Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. | 25160620 | 2014 | ||||
|
0.650 | Biomarker | disease | BEFREE | Carboxyl-ester lipase (CEL) maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes and pancreatic exocrine dysfunction due to mutations in the CEL gene encoding CEL. | 24062244 | 2014 | ||||
|
0.650 | GeneticVariation | disease | BEFREE | To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy. | 18544793 | 2008 | ||||
|
0.650 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. | 16369531 | 2006 | ||||
|
0.650 | GeneticVariation | disease | BEFREE | Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. | 16369531 | 2006 | ||||
|
0.650 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.650 | GeneticVariation | disease | CLINVAR | |||||||
|
0.650 | Biomarker | disease | CTD_human | |||||||
|
0.650 | CausalMutation | disease | CLINVAR |