DisGeNET - a database of gene-disease associations

Congenital Epicanthus, C0678230

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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:	668
Gene Symbol:	FOXL2

FOXL2

0.100

GeneticVariation

disease

BEFREE

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

2001

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

0.100

Biomarker

disease

HPO

Entrez Id:	54187
Gene Symbol:	NANS

NANS

0.100

Biomarker

disease

HPO

Entrez Id:	168667
Gene Symbol:	BMPER

BMPER

0.100

Biomarker

disease

HPO

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

0.100

Biomarker

disease

HPO

Entrez Id:	84342
Gene Symbol:	COG8

COG8

0.100

Biomarker

disease

HPO

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

0.100

Biomarker

disease

HPO

Entrez Id:	7737
Gene Symbol:	RNF113A

RNF113A

0.100

Biomarker

disease

HPO

Entrez Id:	10586
Gene Symbol:	MAB21L2

MAB21L2

0.100

Biomarker

disease

HPO

Entrez Id:	284058
Gene Symbol:	KANSL1

KANSL1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6497
Gene Symbol:	SKI

SKI

0.100

Biomarker

disease

HPO

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

0.100

Biomarker

disease

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

disease

HPO

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

0.100

Biomarker

disease

HPO

Entrez Id:	9841
Gene Symbol:	ZBTB24

ZBTB24

0.100

Biomarker

disease

HPO

Entrez Id:	161742
Gene Symbol:	SPRED1

SPRED1

0.100

Biomarker

disease

HPO

Entrez Id:	226
Gene Symbol:	ALDOA

ALDOA

0.100

Biomarker

disease

HPO

Entrez Id:	55764
Gene Symbol:	IFT122

IFT122

0.100

Biomarker

disease

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

0.100

Biomarker

disease

HPO

Entrez Id:	3090
Gene Symbol:	HIC1

HIC1

0.100

Biomarker

disease

HPO

Entrez Id:	1663
Gene Symbol:	DDX11

DDX11

0.100

Biomarker

disease

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.100

Biomarker

disease

HPO

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

0.100

Biomarker

disease

HPO

Entrez Id:	7461
Gene Symbol:	CLIP2

CLIP2

0.100

Biomarker

disease

HPO

Entrez Id:	8504
Gene Symbol:	PEX3

PEX3

0.100

Biomarker

disease

HPO