Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 217
Gene Symbol: ALDH2
ALDH2
CUI: C0025209
Disease: Melanosis
Melanosis
0.320 Biomarker BEFREE Multivariate analysis showed that older age, heavier smoking, and heterozygosity for inactive ALDH2 were positively associated with the presence of melanosis. 16805853

2006

Entrez Id: 217
Gene Symbol: ALDH2
ALDH2
CUI: C0025209
Disease: Melanosis
Melanosis
0.320 GeneticVariation BEFREE Men with the inactive ALDH2*1/2*2 genotype had a higher risk for esophageal melanosis (2.66-fold), as well as for DIULs and SCCs. 16082583

2005

Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C0025209
Disease: Melanosis
Melanosis
0.110 GeneticVariation BEFREE The presence of the MC1R∆24 allele and melanism in gray squirrels is likely due to introgression from fox squirrels, although we cannot completely rule out alternative hypotheses including introgression from gray squirrels to fox squirrels, or an ancestral polymorphism. 31296164

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0025209
Disease: Melanosis
Melanosis
0.020 GeneticVariation BEFREE Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis. 25330907

2014

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0025209
Disease: Melanosis
Melanosis
0.020 GeneticVariation BEFREE Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 23392294

2013

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025209
Disease: Melanosis
Melanosis
0.020 GeneticVariation BEFREE Lack of evidence for OSMR and RET gene mutations in a Chinese family with friction melanosis. 19594765

2010

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025209
Disease: Melanosis
Melanosis
0.020 AlteredExpression BEFREE We initially demonstrated that both skin melanosis and Ret protein expression in skin, thymus and brain first became detectable before or immediately after birth in the mice of the tumor developing lines (304 and 192), whereas they became detectable a few days after birth in the mice of the non-tumor developing line (242) by Western blotting and immunohistochemical analysis. 9989837

1999

Entrez Id: 10755
Gene Symbol: GIPC1
GIPC1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE We developed a SNP-based marker in the Y-linked allele of <i>GIPC PDZ domain containing family member 1</i> (<i>gipc1</i>), which was linked to melanism in all tested <i>G. holbrooki</i> populations. 31704715

2020

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE We report the case of a newborn boy with multinodular NRAS and BRAF mutation-negative congenital melanocytic nevi and cerebral lesions compatible with congenital intraparenchymal melanosis. 29999207

2018

Entrez Id: 5133
Gene Symbol: PDCD1
PDCD1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE This is, to our knowledge, the first reported case of a sarcoidal form of tumoral melanosis in a patient on anti-PD-1 therapy. 29924748

2018

Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE MR imaging and CSF immunohistochemistry confirmed leptomeningeal melanosis. 29948137

2018

Entrez Id: 1437
Gene Symbol: CSF2
CSF2
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE MR imaging and CSF immunohistochemistry confirmed leptomeningeal melanosis. 29948137

2018

Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 AlteredExpression BEFREE In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis. 26706010

2015

Entrez Id: 9180
Gene Symbol: OSMR
OSMR
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE Lack of evidence for OSMR and RET gene mutations in a Chinese family with friction melanosis. 19594765

2010

Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 2001 to 2003 were analyzed using conditional logistic regression to assess the associations between four common base excision repair (BER) genetic polymorphisms X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln, XRCC1 Arg194Trp, human 8-oxoguanine DNA glycosylase (hOGG1) Ser326Cys and apurinic/apyrimidinic endonuclease (APE1) Asp148Glu and arsenic-induced skin lesions including melanosis and keratosis. 17374727

2007

Entrez Id: 4968
Gene Symbol: OGG1
OGG1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 2001 to 2003 were analyzed using conditional logistic regression to assess the associations between four common base excision repair (BER) genetic polymorphisms X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln, XRCC1 Arg194Trp, human 8-oxoguanine DNA glycosylase (hOGG1) Ser326Cys and apurinic/apyrimidinic endonuclease (APE1) Asp148Glu and arsenic-induced skin lesions including melanosis and keratosis. 17374727

2007

Entrez Id: 328
Gene Symbol: APEX1
APEX1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 GeneticVariation BEFREE Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 2001 to 2003 were analyzed using conditional logistic regression to assess the associations between four common base excision repair (BER) genetic polymorphisms X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln, XRCC1 Arg194Trp, human 8-oxoguanine DNA glycosylase (hOGG1) Ser326Cys and apurinic/apyrimidinic endonuclease (APE1) Asp148Glu and arsenic-induced skin lesions including melanosis and keratosis. 17374727

2007

Entrez Id: 3082
Gene Symbol: HGF
HGF
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE Transgenic mice overexpressing hepatocyte growth factor/scatter factor (HGF/SF) demonstrate extensive pigmented nevi in both skin and leptomeninges of the central nervous system resembling human neurocutaneous melanosis. 11209133

2001

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE Immunohistochemical detection of the c-met proto-oncogene product in the congenital melanocytic nevus of an infant with neurocutaneous melanosis. 11209133

2001

Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0025209
Disease: Melanosis
Melanosis
0.010 Biomarker BEFREE We have recently demonstrated that endothelin-1 (ET-1) is a strong keratinocyte-derived mitogen and melanogen for human melanocytes in UVB-induced melanosis. 8977712

1996