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:	113179
Gene Symbol:	ADAT3

ADAT3

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.110

GeneticVariation

CLINVAR

Entrez Id:	113178
Gene Symbol:	SCAMP4

SCAMP4

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	2581
Gene Symbol:	GALC

GALC

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	5859
Gene Symbol:	QARS1

QARS1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6925
Gene Symbol:	TCF4

TCF4

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	7299
Gene Symbol:	TYR

TYR

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	22827
Gene Symbol:	PUF60

PUF60

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	7507
Gene Symbol:	XPA

XPA

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	127343
Gene Symbol:	DMBX1

DMBX1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	57526
Gene Symbol:	PCDH19

PCDH19

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	29911
Gene Symbol:	HOOK2

HOOK2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

CausalMutation

CLINVAR

Entrez Id:	23111
Gene Symbol:	SPART

SPART

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	9526
Gene Symbol:	MPDU1

MPDU1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	65117
Gene Symbol:	RSRC2

RSRC2

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	22983
Gene Symbol:	MAST1

MAST1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR

Entrez Id:	91869
Gene Symbol:	RFT1

RFT1

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.100

GeneticVariation

CLINVAR