DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Early severe fetal akinesia sequence ×

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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:	6261
Gene Symbol:	RYR1

RYR1

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	4920
Gene Symbol:	ROR2

ROR2

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	259266
Gene Symbol:	ASPM

ASPM

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	342035
Gene Symbol:	GLDN

GLDN

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

27974811

2017

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

GeneticVariation

CLINVAR

Entrez Id:	51010
Gene Symbol:	EXOSC3

EXOSC3

CUI:	C3151520
Disease:	Early severe fetal akinesia sequence

Early severe fetal akinesia sequence

0.100

CausalMutation

CLINVAR