DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Blepharophimosis ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	668
Gene Symbol:	FOXL2

FOXL2

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.200

Biomarker

HPO

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.130

Biomarker

HPO

Entrez Id:	7862
Gene Symbol:	BRPF1

BRPF1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.110

Biomarker

HPO

Entrez Id:	545
Gene Symbol:	ATR

ATR

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.110

Biomarker

HPO

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	91179
Gene Symbol:	SCARF2

SCARF2

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	4089
Gene Symbol:	SMAD4

SMAD4

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	5594
Gene Symbol:	MAPK1

MAPK1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	8214
Gene Symbol:	DGCR6

DGCR6

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	11011
Gene Symbol:	TLK2

TLK2

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	22931
Gene Symbol:	RAB18

RAB18

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	55784
Gene Symbol:	MCTP2

MCTP2

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	4781
Gene Symbol:	NFIB

NFIB

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	79633
Gene Symbol:	FAT4

FAT4

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	10584
Gene Symbol:	COLEC10

COLEC10

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	2077
Gene Symbol:	ERF

ERF

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	9569
Gene Symbol:	GTF2IRD1

GTF2IRD1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	78989
Gene Symbol:	COLEC11

COLEC11

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	8642
Gene Symbol:	DCHS1

DCHS1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	2969
Gene Symbol:	GTF2I

GTF2I

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	3984
Gene Symbol:	LIMK1

LIMK1

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO

Entrez Id:	8450
Gene Symbol:	CUL4B

CUL4B

CUI:	C0005744
Disease:	Blepharophimosis

Blepharophimosis

0.100

Biomarker

HPO