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Table 2 The 21 genes having genetic evidence of mutations

From: A systematic review of genetic mutations in pulmonary arterial hypertension

Symbol

Name

Abstracts

Kits

ACVRL1

Activin A receptor like type 1

30

10

AGTR1

Angiotensin II receptor, type 1

3

-

BMPR1B

Bone morphogenetic protein receptor, type 1B

5

2

BMPR2

Bone morphogenetic protein receptor, type II

177

12

CAV1

Caveolin 1

6

9

EDN1

Endothelin 1

19

-

EDNRA

Endothelin receptor type A

1

-

EIF2AK4

Eukaryotic translation initiation factor 2 alpha kinase 4

5

1

ENG

Endoglin

24

10

KCNA5

Potassium voltage-gated channel subfamily A member 5 member 5

7

2

KCNK3

Potassium two pore domain channel subfamily K member 3

5

5

NOS2

Nitric oxide synthase 2

2

-

NOTCH3

Notch 3

1

1

SERPINE1

Serpin family E member 1

3

-

SIRT3

Sirtuin 3

1

-

SMAD4

Smad family member 4

9

2

SMAD9

Smad family member 9

16

9

TBX4

T-box 4

1

-

THBS1

Thrombospondin 1

1

-

TOPBP1

Topoisomerase (DNA) II binding protein 1

1

-

TRPC6

Transient receptor potential cation channel, subfamily C, member 6

3

-