DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Congenital dermal melanocytosis ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1554700718

rs1554700718

HNRNPK

0.658

0.360

9

83975540

non coding transcript exon variant

T/C

snv

CUI:	C4020699
Disease:	Congenital dermal melanocytosis

Congenital dermal melanocytosis

0.700

dbSNP:

rs1566785444

rs1566785444

IRF2BPL

0.827

0.200

14

77025671

frameshift variant

C/-

delins

CUI:	C4020699
Disease:	Congenital dermal melanocytosis

Congenital dermal melanocytosis

0.700

dbSNP:

rs879255280

rs879255280

SMO

0.701

0.200

7

129206557

missense variant

C/T

snv

CUI:	C4020699
Disease:	Congenital dermal melanocytosis

Congenital dermal melanocytosis

0.700