DisGeNET - a database of gene-disease associations

Peripheral pulmonary artery stenosis, C0345030

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

0.100

Biomarker

disease

HPO

Entrez Id:	4256
Gene Symbol:	MGP

MGP

0.100

Biomarker

disease

HPO

Entrez Id:	51085
Gene Symbol:	MLXIPL

MLXIPL

0.100

Biomarker

disease

HPO

Entrez Id:	92002
Gene Symbol:	CCNQ

CCNQ

0.100

Biomarker

disease

HPO

Entrez Id:	182
Gene Symbol:	JAG1

JAG1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

disease

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

disease

HPO

Entrez Id:	4853
Gene Symbol:	NOTCH2

NOTCH2

0.100

Biomarker

disease

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

0.100

Biomarker

disease

HPO

Entrez Id:	9569
Gene Symbol:	GTF2IRD1

GTF2IRD1

0.100

Biomarker

disease

HPO

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

0.100

Biomarker

disease

HPO

Entrez Id:	26608
Gene Symbol:	TBL2

TBL2

0.100

Biomarker

disease

HPO

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

0.100

Biomarker

disease

HPO

Entrez Id:	9652
Gene Symbol:	TTC37

TTC37

0.100

Biomarker

disease

HPO

Entrez Id:	2969
Gene Symbol:	GTF2I

GTF2I

0.100

Biomarker

disease

HPO

Entrez Id:	182
Gene Symbol:	JAG1

JAG1

0.100

Biomarker

disease

HPO

Entrez Id:	1747
Gene Symbol:	DLX3

DLX3

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

0.100

Biomarker

disease

HPO

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

0.100

Biomarker

disease

HPO

Entrez Id:	3984
Gene Symbol:	LIMK1

LIMK1

0.100

Biomarker

disease

HPO

Entrez Id:	9487
Gene Symbol:	PIGL

PIGL

0.100

Biomarker

disease

HPO

Entrez Id:	7319
Gene Symbol:	UBE2A

UBE2A

0.100

Biomarker

disease

HPO

Entrez Id:	7461
Gene Symbol:	CLIP2

CLIP2

0.100

Biomarker

disease

HPO

Entrez Id:	57674
Gene Symbol:	RNF213

RNF213

0.020

Biomarker

disease

BEFREE

PAH can be added as a new member of RNF213-associated vascular diseases, which include Moyamoya disease and peripheral pulmonary stenosis.

31542298

2020

Entrez Id:	57674
Gene Symbol:	RNF213

RNF213

0.020

GeneticVariation

disease

BEFREE

Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis).

31650369

2019