DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Strabismus ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	7874
Gene Symbol:	USP7

USP7

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	6660
Gene Symbol:	SOX5

SOX5

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	5831
Gene Symbol:	PYCR1

PYCR1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	22907
Gene Symbol:	DHX30

DHX30

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	9289
Gene Symbol:	ADGRG1

ADGRG1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	7299
Gene Symbol:	TYR

TYR

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	7507
Gene Symbol:	XPA

XPA

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	23389
Gene Symbol:	MED13L

MED13L

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	998
Gene Symbol:	CDC42

CDC42

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR