Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.750 GeneticVariation disease BEFREE The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). 29381910 2017
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.750 GeneticVariation disease BEFREE We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS. 26521233 2015
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.750 CausalMutation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 Biomarker disease GENOMICS_ENGLAND Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 24006476 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 Biomarker disease GENOMICS_ENGLAND Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 CausalMutation disease CLINVAR
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 GeneticVariation disease ORPHANET A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. 25914220 2015
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 CausalMutation disease CLINVAR
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 Biomarker disease CTD_human
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		0.010 GeneticVariation 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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.010 GeneticVariation 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
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		0.010 GeneticVariation disease BEFREE Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23. 22205508 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.010 GeneticVariation disease BEFREE By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal nevus syndrome (García-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. 20542174 2010