DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Blepharoptosis ×

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:	58499
Gene Symbol:	ZNF462

ZNF462

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.400

CausalMutation

CLINVAR

Entrez Id:	9427
Gene Symbol:	ECEL1

ECEL1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.130

CausalMutation

CLINVAR

Entrez Id:	7291
Gene Symbol:	TWIST1

TWIST1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.120

GeneticVariation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

CausalMutation

CLINVAR

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	9091
Gene Symbol:	PIGQ

PIGQ

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	22827
Gene Symbol:	PUF60

PUF60

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	122622
Gene Symbol:	ADSS1

ADSS1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	1144
Gene Symbol:	CHRND

CHRND

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	23389
Gene Symbol:	MED13L

MED13L

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	93627
Gene Symbol:	TBCK

TBCK

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	3508
Gene Symbol:	IGHMBP2

IGHMBP2

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR