DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Aplastic Anemia ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4683
Gene Symbol:	NBN

NBN

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.620

CausalMutation

CLINVAR

Entrez Id:	4683
Gene Symbol:	NBN

NBN

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.620

GeneticVariation

CLINVAR

Entrez Id:	51119
Gene Symbol:	SBDS

SBDS

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.420

CausalMutation

CLINVAR

Entrez Id:	5551
Gene Symbol:	PRF1

PRF1

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.400

CausalMutation

CLINVAR

Entrez Id:	6125
Gene Symbol:	RPL5

RPL5

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.100

CausalMutation

CLINVAR

Entrez Id:	388650
Gene Symbol:	DIPK1A

DIPK1A

CUI:	C0002874
Disease:	Aplastic Anemia

Aplastic Anemia

0.100

CausalMutation

CLINVAR