DisGeNET - a database of gene-disease associations

rs863223326, LBR

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

HEM dysplasia

CUI:	C2931048
Disease:	HEM dysplasia

5

0.925

0.120

1

225424041

frameshift variant

ACCA/-

del

0.700

Pelger-Huet Anomaly

CUI:	C0030779
Disease:	Pelger-Huet Anomaly

7

0.925

0.120

1

225424041

frameshift variant

ACCA/-

del

0.700