DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Splenomegaly ×

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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:	355
Gene Symbol:	FAS

FAS

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.400

GeneticVariation

CLINVAR

Entrez Id:	80216
Gene Symbol:	ALPK1

ALPK1

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

2019

Entrez Id:	51119
Gene Symbol:	SBDS

SBDS

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	2629
Gene Symbol:	GBA

GBA

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	2538
Gene Symbol:	G6PC

G6PC

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	10019
Gene Symbol:	SH2B3

SH2B3

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	6787
Gene Symbol:	NEK4

NEK4

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	51119
Gene Symbol:	SBDS

SBDS

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	51816
Gene Symbol:	ADA2

ADA2

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	3040
Gene Symbol:	HBA2

HBA2

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR

Entrez Id:	3717
Gene Symbol:	JAK2

JAK2

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0038002
Disease:	Splenomegaly

Splenomegaly

0.100

CausalMutation

CLINVAR