Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 GeneticVariation BEFREE Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver. 28554764

2017

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 Biomarker CTD_human Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 GeneticVariation UNIPROT Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 Biomarker BEFREE Our results indicate that nevus sebaceous and Schimmelpenning syndrome are caused by postzygotic HRAS and KRAS mutations. 22683711

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.720 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 GeneticVariation BEFREE We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. 28523882

2017

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 GeneticVariation BEFREE Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711

2012

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 Biomarker CTD_human Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711

2012

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.600 CausalMutation CLINVAR

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.600 Biomarker HPO

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.600 Biomarker CTD_human

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.010 GeneticVariation BEFREE No BRAF mutation could be detected in 3 syringocystadenoma papillifera secondarily arisen from a sebaceous nevus as well as in sporadic TB. 25532942

2015

Entrez Id: 1523
Gene Symbol: CUX1
CUX1
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.010 Biomarker BEFREE HPV DNA has been detected in 3 of 4 CDP cases tested to date and in authentic NS. 22699864

2012

Entrez Id: 4878
Gene Symbol: NPPA
NPPA
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.010 Biomarker BEFREE HPV DNA has been detected in 3 of 4 CDP cases tested to date and in authentic NS. 22699864

2012

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.010 GeneticVariation 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