DisGeNET - a database of gene-disease associations

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

N. diseases: 106; N. variants: 33

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854855

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0024796
Disease:

Marfan Syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs137854855

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0024796
Disease:

Marfan Syndrome

0.710

GeneticVariation

BEFREE

Heterozygous c.1642C >T (p.Arg548*) possibly contributed to MFS-related phenotypes, including ocular manifestations, mitral valve prolapse, and pectus excavatum, but was not cause of MFS.

22539340

2012

dbSNP:

rs11159091

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs121918355

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3538951
Disease:

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs121918355

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C2751316
Disease:

Glaucoma 3, Primary Congenital, D

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854856

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3553785
Disease:

WEILL-MARCHESANI SYNDROME 3

0.700

GeneticVariation

UNIPROT

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

22539340

2012

dbSNP:

rs137854856

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C4552002
Disease:

WEILL-MARCHESANI SYNDROME 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854858

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137854859

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0206368
Disease:

Exfoliation Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137854860

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137854863

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137854864

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0206368
Disease:

Exfoliation Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137854895

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C2751316
Disease:

Glaucoma 3, Primary Congenital, D

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854895

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566628109

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3538951
Disease:

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566634475

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C2751316
Disease:

Glaucoma 3, Primary Congenital, D

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566635134

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C2751316
Disease:

Glaucoma 3, Primary Congenital, D

0.700

CausalMutation

CLINVAR

dbSNP:

rs1566636728

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3538951
Disease:

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs2043948

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

21460841

2011

dbSNP:

rs2286412

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0027051
Disease:

Myocardial Infarction

0.700

GeneticVariation

GWASDB

Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

21211798

2011

dbSNP:

rs387907174

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3538951
Disease:

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs387907175

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C3538951
Disease:

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

0.700

CausalMutation

CLINVAR

dbSNP:

rs61980882

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs699371

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs699371

Entrez Id:	4053
Gene Symbol:	LTBP2

LTBP2

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

25429064

2015