Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | BEFREE | We propose that impaired glucose tolerance was caused by KRAS mutation and a novel clinical phenotype of Schimmelpenning syndrome. | 30443000 | 2019 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). | 29381910 | 2017 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS. | 26521233 | 2015 | ||||
|
0.750 | Biomarker | disease | BEFREE | We excluded germline mutations in PHEX, FGF23, DMP1, and ENPP1 (genes for hereditary hypophosphatemic rickets) and somatic mutations in the GNAS and HRAS/KRAS (the disease-causing genes for McCune-Albright syndrome and linear nevus sebaceous syndrome, respectively). | 26059403 | 2015 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 | ||||
|
0.750 | SomaticCausalMutation | disease | ORPHANET | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 | ||||
|
0.750 | Biomarker | disease | CTD_human | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 | ||||
|
0.750 | CausalMutation | disease | CLINVAR | |||||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND |