DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Heart murmur ×

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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:	513
Gene Symbol:	ATP5F1D

ATP5F1D

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

2018

Entrez Id:	8398
Gene Symbol:	PLA2G6

PLA2G6

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

GeneticVariation

CLINVAR

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Entrez Id:	81603
Gene Symbol:	TRIM8

TRIM8

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

GeneticVariation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

GeneticVariation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

GeneticVariation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Entrez Id:	57498
Gene Symbol:	KIDINS220

KIDINS220

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Entrez Id:	79912
Gene Symbol:	PYROXD1

PYROXD1

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.100

CausalMutation

CLINVAR