DisGeNET - a database of gene-disease associations

Osteopetrosis, mild autosomal recessive form, C1850126

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	8600
Gene Symbol:	TNFSF11

TNFSF11

O14788

TNF superfamily member 11

Signaling

327

0.453

0.846

4.9E-03

0.800

strong

1.000

7

2

2000

2016

Entrez Id:	8792
Gene Symbol:	TNFRSF11A

TNFRSF11A

Q9Y6Q6

TNF receptor superfamily member 11a

270

0.480

0.846

8.8E-03

0.030

None

1.000

3

1

2008

2014