| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. | 26400620 | 2017 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the underlying nevus. | 25532942 | 2015 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Costello syndrome (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, intellectual impairment, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and hypotrichosis. | 25677562 | 2015 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | In contrast, PPK is best explained by a postzygotic-activating HRAS mutation in a multipotent progenitor cell that gives rise to both a sebaceous and a melanocytic nevus.Therefore, PPK is a mosaic RASopathy. | 23337891 | 2013 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Absence of BRAF and HRAS mutations in eruptive Spitz naevi. | 21418173 | 2011 | ||||
|
0.180 | GeneticVariation | disease | LHGDN | Low prevalence of RAS-RAF-activating mutations in Spitz melanocytic nevi compared with other melanocytic lesions. | 17518771 | 2007 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | No significant differences were detected in the c-neu and Ha-ras mRNA levels in naevi and melanomas. | 1686168 | 1991 | ||||
|
0.180 | Biomarker | disease | BEFREE | It was also demonstrated, however, that part of melanocytic nevi reacted with anti-p21ras monoclonal antibody with a relatively strong intensity. | 2664010 | 1989 | ||||
|
0.180 | Biomarker | disease | HPO |