DisGeNET - a database of gene-disease associations

Melanocytic nevus, C0027962

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1085308047

PTEN ; KLLN

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554121443

SYNGAP1 ; MIR5004

0.700

CausalMutation

CLINVAR

dbSNP:

rs1564045331

XPA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs180177035

BRAF

0.700

CausalMutation

CLINVAR

dbSNP:

rs778543124

XPA

0.700

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

In contrast, mutation analyses performed in parallel in melanocytic nevi of the eyelid identified BRAF V600E alterations in all 3 cases.

29406329

2019

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

In contrast, mutation analyses performed in parallel in melanocytic nevi of the eyelid identified BRAF V600E alterations in all 3 cases.

29406329

2019

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

The BRAF V600E (c.1799T>A or c.1799_1800delTGinsA) and BRAF V600K mutations were detected in 85% (n = 34/40) of naevi.

28714107

2018

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

Improving classification of melanocytic nevi: Association of BRAF V600E expression with distinct histomorphologic features.

29653212

2018

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

Improving classification of melanocytic nevi: Association of BRAF V600E expression with distinct histomorphologic features.

29653212

2018

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

The BRAF V600E (c.1799T>A or c.1799_1800delTGinsA) and BRAF V600K mutations were detected in 85% (n = 34/40) of naevi.

28714107

2018

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P = .006).

28376192

2017

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

28376192

2017

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

In the present study, the frequency of BRAF V600E mutation was evaluated in Russian patients with melanocytic lesions, of which 41.25% were primary melanoma and 60% were melanocytic nevi.

25888143

2015

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations.

25857817

2015

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells.

25380183

2015

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

In the present study, the frequency of BRAF V600E mutation was evaluated in Russian patients with melanocytic lesions, of which 41.25% were primary melanoma and 60% were melanocytic nevi.

25888143

2015

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations.

25857817

2015

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

The absence of the BRAF V600E mutation within a changing naevus supports the theory that BRAFi stimulates the proliferation of wild-type BRAF cells.

25380183

2015

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

BRAF V600E expression was detected in 11 of 12 globular naevi vs. four of 13 reticular naevi (91·7% vs. 30·1%, P = 0·004).

25039578

2014

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus.

24471189

2014

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

The BRAF-V600E status of confirmed new primary melanoma and dysplastic naevi was tested using a genetic mutation assay and immunohistochemistry.

24531394

2014

dbSNP:

rs113488022

BRAF

0.100

GeneticVariation

BEFREE

Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus.

24614711

2014

dbSNP:

rs121913377

BRAF

0.100

GeneticVariation

BEFREE

Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600</span>E) mutant with 100% concordance between the melanoma and associated naevus.

24614711

2014