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:	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

Entrez Id:	6942
Gene Symbol:	TCF20

TCF20

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	1756
Gene Symbol:	DMD

DMD

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	57479
Gene Symbol:	PRR12

PRR12

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	84231
Gene Symbol:	TRAF7

TRAF7

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	54870
Gene Symbol:	QRICH1

QRICH1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

CausalMutation

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

GeneticVariation

CLINVAR