DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of the sternum ×

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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:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

CausalMutation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

CausalMutation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

GeneticVariation

CLINVAR

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

CausalMutation

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

CausalMutation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C1860493
Disease:	Abnormality of the sternum

Abnormality of the sternum

0.100

GeneticVariation

CLINVAR