DisGeNET - a database of gene-disease associations

GELEOPHYSIC DYSPLASIA 3, C4540511

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1554974135

rs1554974135

LTBP3

2

0.925

0.080

11

65547459

missense variant

G/C

snv

0.700

1.000

2016

2016

dbSNP:

rs1188540819

rs1188540819

LTBP3

1

1.000

11

65547915

splice region variant

C/T

snv

4.0E-06

0.700

dbSNP:

rs1554971742

rs1554971742

LTBP3 ; SCYL1

1

1.000

11

65539080

stop lost

T/A

snv

0.700