Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
0.100 CausalMutation disease CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.040 GeneticVariation disease BEFREE In the present paper, we present a case of agminated blue nevus on the wrist, and identify an activating mutation (c.626A > T, p.Glu209Leu) in GNAQ. 30315589 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.040 GeneticVariation disease BEFREE Two lesions may represent misdiagnosed "blue nevus with epithelioid features" as they demonstrated GNAQ hotspot mutations. 28796000 2017
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.040 GeneticVariation disease BEFREE The presence of GNAQ mutations in the amelanotic/hypomelanotic blue nevus indicates that mechanisms underlying pigment homeostasis in this variant appear to be similar to those of its melanotic counterparts, although it is not clear why activation of the q class of the G-protein α subunit should cause an abundance of dermal pigment in one variant and not in another. 21056896 2011
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.040 GeneticVariation disease BEFREE GNAQ codon 209 mutations were present in 3/4 melanocytomas and the blue nevus. 20865267 2010
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
0.020 Biomarker disease BEFREE After fluorescence in situ hybridization revealed copy number gains in RREB1, this was diagnosed as a blue nevus-like metastatic melanoma. 27097332 2016
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
0.020 Biomarker disease BEFREE We evaluated a fluorescence in situ hybridization (FISH) assay using probes targeting 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1), and centromere 6 (Cep6) with previously determined criteria, to distinguish EBN and BN-like melanoma metastasis. 19606012 2009
Entrez Id: 595
Gene Symbol: CCND1
CCND1
0.010 Biomarker disease BEFREE We evaluated a fluorescence in situ hybridization (FISH) assay using probes targeting 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1), and centromere 6 (Cep6) with previously determined criteria, to distinguish EBN and BN-like melanoma metastasis. 19606012 2009