DisGeNET - a database of gene-disease associations

KREMEN1, kringle containing transmembrane protein 1, 83999

N. diseases: 21; N. variants: 5

Disease: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE ×

Variant: rs1057524917 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057524917

rs1057524917

Entrez Id:	83999
Gene Symbol:	KREMEN1

KREMEN1

CUI:	C4479322
Disease:

ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057524917

rs1057524917

Entrez Id:	83999
Gene Symbol:	KREMEN1

KREMEN1

CUI:	C4479322
Disease:

ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE

0.800

GeneticVariation

UNIPROT