DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Ectopia lentis isolated ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

fibrillin 1

0.417

0.846

1.00

CUI:	C1851286
Disease:	Ectopia lentis isolated

Ectopia lentis isolated

disease

0.400

None

1.000

2002

2015

Entrez Id:	54507
Gene Symbol:	ADAMTSL4

ADAMTSL4

ADAMTS like 4

0.656

0.577

2.6E-28

CUI:	C1851286
Disease:	Ectopia lentis isolated

Ectopia lentis isolated

disease

0.380

None

1.000

2009

2015

Entrez Id:	170691
Gene Symbol:	ADAMTS17

ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17

0.678

0.385

2.8E-15

CUI:	C1851286
Disease:	Ectopia lentis isolated

Ectopia lentis isolated

disease

0.020

None

1.000

2011

2015

Entrez Id:	9719
Gene Symbol:	ADAMTSL2

ADAMTSL2

ADAMTS like 2

0.666

0.346

1.6E-03

CUI:	C1851286
Disease:	Ectopia lentis isolated

Ectopia lentis isolated

disease

0.020

None

1.000

2011

2015

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

latent transforming growth factor beta binding protein 2

0.572

0.692

7.4E-04

CUI:	C1851286
Disease:	Ectopia lentis isolated

Ectopia lentis isolated

disease

0.010

None

1.000

2012