DisGeNET - a database of gene-disease associations

Blepharitis, C0005741

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8626
Gene Symbol:	TP63

TP63

0.100

CausalMutation

disease

CLINVAR

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

19903181

2010

Entrez Id:	7390
Gene Symbol:	UROS

UROS

0.100

Biomarker

disease

HPO

Entrez Id:	79650
Gene Symbol:	USB1

USB1

0.100

Biomarker

disease

HPO

Entrez Id:	7507
Gene Symbol:	XPA

XPA

0.100

Biomarker

disease

HPO

Entrez Id:	5317
Gene Symbol:	PKP1

PKP1

0.100

Biomarker

disease

HPO

Entrez Id:	2073
Gene Symbol:	ERCC5

ERCC5

0.100

Biomarker

disease

HPO

Entrez Id:	6307
Gene Symbol:	MSMO1

MSMO1

0.100

Biomarker

disease

HPO

Entrez Id:	6868
Gene Symbol:	ADAM17

ADAM17

0.100

Biomarker

disease

HPO

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

0.100

Biomarker

disease

HPO

Entrez Id:	7454
Gene Symbol:	WAS

WAS

0.100

Biomarker

disease

HPO

Entrez Id:	5980
Gene Symbol:	REV3L

REV3L

0.100

Biomarker

disease

HPO

Entrez Id:	9126
Gene Symbol:	SMC3

SMC3

0.100

Biomarker

disease

HPO

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

0.100

Biomarker

disease

HPO

Entrez Id:	55135
Gene Symbol:	WRAP53

WRAP53

0.100

Biomarker

disease

HPO

Entrez Id:	7012
Gene Symbol:	TERC

TERC

0.100

Biomarker

disease

HPO

Entrez Id:	23129
Gene Symbol:	PLXND1

PLXND1

0.100

Biomarker

disease

HPO

Entrez Id:	80169
Gene Symbol:	CTC1

CTC1

0.100

Biomarker

disease

HPO

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

0.100

Biomarker

disease

HPO

Entrez Id:	6768
Gene Symbol:	ST14

ST14

0.100

Biomarker

disease

HPO

Entrez Id:	55651
Gene Symbol:	NHP2

NHP2

0.100

Biomarker

disease

HPO

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

0.100

Biomarker

disease

HPO

Entrez Id:	10758
Gene Symbol:	TRAF3IP2

TRAF3IP2

0.100

Biomarker

disease

HPO

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

0.100

Biomarker

disease

HPO

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

Biomarker

disease

HPO

Entrez Id:	5333
Gene Symbol:	PLCD1

PLCD1

0.100

Biomarker

disease

HPO