DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Atrial Septal Defects ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

SET binding protein 1

0.503

0.808

1.00

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	284058
Gene Symbol:	KANSL1

KANSL1

KAT8 regulatory NSL complex subunit 1

0.592

0.731

1.00

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

heterogeneous nuclear ribonucleoprotein K

0.539

0.846

1.00

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

KRAS proto-oncogene, GTPase

0.320

0.923

7.9E-04

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	388650
Gene Symbol:	DIPK1A

DIPK1A

divergent protein kinase domain 1A

0.743

0.423

0.58

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	4594
Gene Symbol:	MMUT

MMUT

methylmalonyl-CoA mutase

0.534

0.731

1.7E-22

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	473
Gene Symbol:	RERE

RERE

arginine-glutamic acid dipeptide repeats

0.526

0.846

1.00

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

chromodomain helicase DNA binding protein 7

0.441

0.846

1.00

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	55869
Gene Symbol:	HDAC8

HDAC8

histone deacetylase 8

0.511

0.885

0.98

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

RAD51 recombinase

0.447

0.846

2.7E-02

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

Ras like without CAAX 1

0.527

0.808

0.13

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

transmembrane protein 94

0.628

0.654

2.8E-14

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

group

0.100

None