Phenotype: Cutaneous melanoma (HP:0012056)
Associated genes and diseases:
gene_symbol: COL17A1
disease_id: ORPHA:79406
disease_name: Late-onset junctional epidermolysis bullosa
Epidermolysis bullosa progressiva
JEB-lo
Late-onset JEB
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79409
disease_name: Recessive dystrophic epidermolysis bullosa inversa
RDEB inversa
RDEB-I
gene_symbol: COL7A1
disease_id: ORPHA:79410
disease_name: Localized dystrophic epidermolysis bullosa, pretibial form
DEB-Pt
Localized DEB, pretibial form
gene_symbol: COL7A1
disease_id: ORPHA:79411
disease_name: Self-improving dystrophic epidermolysis bullosa
Self-improving DEB
Transient bullous dermolysis of the newborn
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: NRAS
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: BRAF
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: BRAF
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: STK11
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: CDKN2A
disease_id: OMIM:155755
disease_name: MELANOMA-ASTROCYTOMA SYNDROME
gene_symbol: CDKN2A
disease_id: OMIM:155601
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
gene_symbol: MITF
disease_id: OMIM:614456
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: ERCC3
disease_id: OMIM:610651
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
gene_symbol: SOX5
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ALK
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ZEB2
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: RAF1
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: CDK4
disease_id: OMIM:609048
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: XPC
disease_id: OMIM:278720
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C