Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0025202
Disease: melanoma
melanoma
0.800 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma
0.800 CausalMutation CLINVAR

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0025202
Disease: melanoma
melanoma
0.150 CausalMutation CLINVAR

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0025202
Disease: melanoma
melanoma
0.150 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0025202
Disease: melanoma
melanoma
0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 GeneticVariation CLINVAR Acute effects of some volatile nitrites on motor performance and lethality in mice. 2872605

1986

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 CausalMutation CLINVAR [Long-term results following surgery or radioiodine treatment of solitary autonomous adenoma of the thyroid gland]. 2493360

1989

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992

Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0025202
Disease: melanoma
melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403

1997

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation CLINVAR Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. 10208439

1999

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001