DisGeNET - a database of gene-disease associations

LTBP2, latent transforming growth factor beta binding protein 2, 4053

N. diseases: 106; N. variants: 33

Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs121918355

0.807

0.280

74555629

stop gained

G/A;T

snv

2.1E-05; 4.2E-06

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700

dbSNP:

rs1566628109

1.000

74535993

frameshift variant

-/G

delins

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700

dbSNP:

rs1566636728

1.000

74555512

frameshift variant

A/-

del

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700

dbSNP:

rs387907174

1.000

74503252

stop gained

G/A

snv

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700

dbSNP:

rs387907175

1.000

74505039

missense variant

C/T

snv

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700

dbSNP:

rs777661862

1.000

74500903

frameshift variant

-/G

delins

1.4E-05

CUI:	C3538951
Disease:	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

0.700