Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.840 | GeneticVariation | BEFREE | The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome. | 21639936 | 2011 |
||||
|
0.840 | GeneticVariation | BEFREE | Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. | 18642369 | 2008 |
||||
|
0.840 | GeneticVariation | BEFREE | The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. | 17255960 | 2007 |
||||
|
0.840 | GeneticVariation | BEFREE | The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. | 16841094 | 2006 |
||||
|
T | 0.840 | CausalMutation | CLINVAR | ||||||
|
0.840 | GeneticVariation | UNIPROT | |||||||
|
0.800 | GeneticVariation | UNIPROT | Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | 22499344 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | 22499344 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.710 | GeneticVariation | BEFREE | A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. | 30864170 | 2019 |
||||
|
0.710 | GeneticVariation | BEFREE | An oncogenic G12D KRAS mutation was detected in both the epidermal component of the EN and in the rhabdomyosarcoma but not in the dermal component of the EN lesion or in unaffected tissues, including normal skin or blood. | 20805368 | 2010 |
||||
|
0.710 | GeneticVariation | BEFREE | Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers. | 17673550 | 2007 |
||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |