GeneAssociated phenotypesInheritanceClinVarHGMD

 

ABCC6*

 

Pseudoxanthoma elasticum

 

AR

 

352

 

377

 

ABL1

 

Congenital heart defects and skeletal malformations syndrome

(CHDSKM)

 

AD

 

30

 

5

 

ACTA2

 

Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome

 

AD

 

20

 

76

 

ADAMTS10

 

Weill-Marchesani syndrome

 

AR

 

8

 

14

 

ADAMTS17

 

Weill-Marchesani-like syndrome

 

AR

 

6

 

7

 

ADAMTS2

 

Ehlers-Danlos syndrome

 

AR

 

8

 

11

 

ADAMTSL4

 

Ectopia lentis,  isolated

 

AR

 

11

 

27

 

ALDH18A1

 

Spastic paraplegia, Cutis  laxa

 

AD/AR

 

22

 

30

 

ATP7A

 

Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal,  X-linked 3

 

XL

 

116

 

354

 

B3GAT3*

 

Multiple joint dislocations, short  stature, craniofacial dysmorphism, and congenital heart defects

 

AR

 

6

 

13

 

BGN

 

Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome

 

XL

 

8

 

7

 

CBS

 

Homocystinuria due to cystathionine beta-synthase deficiency

 

AR

 

88

 

205

 

COL1A1

 

Ehlers-Danlos syndrome, Caffey  disease, Osteogenesis imperfecta type  1, Osteogenesis imperfecta type  2, Osteogenesis imperfecta type  3, Osteogenesis imperfecta type  4

 

AD

 

352

 

962

 

COL1A2

 

Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type  1, Osteogenesis imperfecta type  2, Osteogenesis imperfecta type  3, Osteogenesis imperfecta type  4

 

AD/AR

 

186

 

509

 

COL2A1

 

Avascular necrosis of femoral head, Rhegmatogenous retinal  detachment, Epiphyseal dysplasia, with myopia  and deafness, Czech dysplasia, Achondrogenesis type  2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler  syndrome type  1

 

AD

 

180

 

561

 

COL3A1

 

Ehlers-Danlos syndrome

 

AD

 

520

 

631

 

COL4A5

 

Alport syndrome

 

XL

 

704

 

992

 

COL5A1

 

Ehlers-Danlos syndrome

 

AD

 

101

 

154

 

COL5A2

 

Ehlers-Danlos syndrome

 

AD

 

24

 

35

 

COLGALT1

 

Brain small vessel  disease

 

AR

  

 

EFEMP2

 

Cutis  laxa

 

AR

 

14

 

16

 

ELN

 

Cutis  laxa, Supravalvular aortic stenosis

 

AD

 

78

 

113

 

ENPP1

 

Arterial calcification, Hypophosphatemic rickets

 

AD/AR

 

22

 

72

 

FBLN5

 

Cutis  laxa, Macular degeneration, age-related

 

AD/AR

 

13

 

22

 

FBN1

 

MASS syndrome, Marfan  syndrome, Acromicric dysplasia, Geleophysic dysplasia 3

 

AD

 

1465

 

2679

 

FBN2

 

Congenital contractural arachnodactyly (Beals syndrome)

 

AD

 

50

 

97

 

FKBP14

 

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

 

AR

 

5

 

6

 

FLNA

 

Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type  1, Otopalatodigital syndrome type  2, Terminal  osseous dysplasia with pigmentary defects

 

XL

 

133

 

257

 

FOXE3

 

Aphakia, congenital primary, Anterior segment mesenchymal dysgenesis, Cataract 34, Aortic aneurysm, familial thoracic

 

AR/AD

 

9

 

29

 

GATA5

 

Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defect

 

AD

 

5

 

32

 

HCN4

 

Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)

 

AD

 

8

 

34

 

 

LOXAortic aneurysm, familial thoracic 10AD67

 

MAT2A*

 

Complement system

 

AD/AR

 

 

2

 

MED12

 

Ohdo  syndrome, Mental retardation, with Marfanoid habitus, FG

syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns  syndrome

 

XL

 

29

 

30

 

MFAP5

 

Aortic aneurysm, familial thoracic

 

AD

 

2

 

3

 

MYH11

 

Aortic aneurysm, familial thoracic

 

AD/AR

 

16

 

48

 

MYLK

 

Aortic aneurysm, familial thoracic 7

 

AD

 

16

 

28

 

NOTCH1

 

Aortic valve disease, Adams-Oliver syndrome

 

AD

 

56

 

96

 

PLOD1

 

Ehlers-Danlos syndrome

 

AR

 

30

 

41

 

PRKG1

 

Aortic aneurysm, familial thoracic 8

 

AD

 

2

 

3

 

SKI

 

Shprintzen-Goldberg syndrome

 

AD

 

20

 

23

 

SLC2A10

 

Arterial tortuosity syndrome

 

AR

 

23

 

34

 

SLC39A13

 

Spondylodysplastic Ehlers-Danlos syndrome

 

AR

 

2

 

9

 

SMAD2

 

Loeys-Dietz syndrome, Congenital heart defects, nonsyndromic

 

AD

 

4

 

13

 

SMAD3

 

Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome

 

AD

 

48

 

82

 

SMAD4

 

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre  dysplasia, Hereditary hemorrhagic telangiectasia

 

AD

 

179

 

143

 

SMAD6

 

Craniosynostosis 7

 

AD

 

5

 

38

 

TGFB2

 

Loeys-Dietz syndrome

 

AD

 

36

 

38

 

TGFB3

 

Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia

 

AD

 

19

 

26

 

TGFBR1

 

Loeys-Dietz syndrome

 

AD

 

40

 

69

 

TGFBR2

 

Loeys-Dietz syndrome

 

AD

 

58

 

139

 

ZDHHC9

 

Mental retardation, syndromic, Raymond

 

XL

 

9

 

14

GeneAssociated phenotypesInheritanceClinVarHGMD

 

ABCC9

 

Atrial fibrillation, Cantu syndrome, Dilated  cardiomyopathy (DCM)

 

AD

 

27

 

46

 

AKAP9

 

Long QT syndrome

 

AD

 

4

 

38

 

ANK2

 

Cardiac arrhythmia, Long QT syndrome

 

AD

 

6

 

73

 

BAG3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

39

 

62

 

CACNA1C*

 

Brugada syndrome, Timothy syndrome

 

AD

 

19

 

68

 

CACNB2

 

Brugada syndrome

 

AD

 

4

 

22

 

CALM1*

 

Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndrome

 

AD

 

10

 

10

 

CALM2

 

Long QT syndrome

 

AD

 

8

 

10

 

CALM3

 

Catecholaminergic polymorphic ventricular tachycardia

 

AD/AR

 

4

 

4

 

CASQ2

 

Ventricular tachycardia, catecholaminergic, polymorphic

 

AR

 

24

 

34

 

CAV3

 

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type  IC, Myopathy, distal,  Tateyama type, Rippling muscle disease 2

 

AD/AR

 

23

 

50

CDH2Arrhythmogenic right ventricular cardiomyopathy (ARVC)AD16

 

CTNNA3

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

7

 

46

 

DBH

 

Dopamine beta-hydroxylase deficiency

 

AR

 

10

 

11

 

DES

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser type

 

AD/AR

 

64

 

124

 

DSC2

 

Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia

 

AD/AR

 

32

 

87

 

DSG2

 

Arrhythmogenic right ventricular dysplasia, Dilated  cardiomyopathy

(DCM)

 

AD

 

44

 

129

 

DSP

 

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal  acantholytic

 

AD/AR

 

177

 

296

 

FLNC*

 

Myopathy

 

AD

 

54

 

109

 

GATA6

 

Heart  defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of Fallot

 

AD

 

16

 

82

 

HADHA

 

Trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA

dehydrogenase deficiency

 

AR

 

65

 

71

 

HCN4

 

Sick sinus syndrome, Brugada syndrome, Left ventricular non- compaction cardiomyopathy (LVNC)

 

AD

 

8

 

34

 

JUP

 

Arrhythmogenic right ventricular dysplasia, Naxos disease

 

AD/AR

 

8

 

46

 

KCNA5

 

Atrial fibrillation

 

AD

 

4

 

25

 

KCNE1

 

Long QT syndrome, Jervell and Lange-Nielsen syndrome

 

AD/AR/Digenic

 

11

 

46

 

KCNE2

 

Long QT syndrome, Atrial fibrillation, familial

 

AD

 

5

 

24

 

KCNH2

 

Short  QT syndrome, Long QT syndrome

 

AD

 

371

 

933

 

KCNJ2

 

Short  QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation

 

AD

 

41

 

93

 

KCNJ5

 

Long QT syndrome, Hyperaldosteronism, familial

 

AD

 

7

 

15

 

KCNQ1

 

Short  QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and

Lange-Nielsen syndrome

 

AD/AR/Digenic

 

298

 

631

 

LDB3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

9

 

14

 

LEMD2

 

Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated  cardiomyopathy (DCM)

 

AR

 

1

 

1

 

LMNA

 

Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated  cardiomyopathy (DCM), Mandibuloacral dysplasia type  A, Progeria Hutchinson-Gilford type

 

AD/AR

 

250

 

564

 

 

MYH6               Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy

(DCM), Atrial septal defect 3

AD                           14               123

 

 

 

MYH7

 

Hypertrophic cardiomyopathy (HCM), Myopathy, myosin  storage, Myopathy, distal,  Dilated  cardiomyopathy (DCM)

 

AD

 

305

 

986

 

MYL4

 

Atrial fibrillation, familial, 18

 

AD

 

2

 

2

 

NKX2-5

 

Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot

 

AD

 

45

 

108

 

NOS1AP

 

Romano-Ward syndrome

 

AD/AR

 

 

4

 

NUP155

 

Atrial fibrillation  15

 

AR

 

2

 

1

 

PKP2*

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

150

 

289

 

PLN

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD/AR

 

8

 

30

 

PPA2

 

Sudden cardiac failure,  infantile

 

AR

 

8

 

8

 

RYR2

 

Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia

 

AD

 

124

 

372

 

SALL4

 

Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndrome

 

AD

 

21

 

56

 

SCN10A

 

Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, Primary  erythermalgia, Sodium channelopathy-related small fiber neuropathy, Brugada syndrome

 

AD/AR

 

2

 

76

 

SCN1B

 

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy,  generalized, with febrile  seizures plus, type  1, Epileptic encephalopathy, early infantile, 52

 

AD

 

16

 

31

 

SCN3B

 

Atrial fibrillation, familial, Brugada syndrome

 

AD

 

3

 

7

 

SCN5A

 

Heart  block,  nonprogressive, Heart  block,  progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated  cardiomyopathy (DCM)

 

AD/AR/Digenic

 

234

 

899

 

TBX5

 

Holt-Oram syndrome

 

AD

 

61

 

127

 

TECRL

 

Ventricular tachycardia, catecholaminergic polymorphic, 3

 

AR

 

2

 

3

 

TGFB3

 

Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia

 

AD

 

19

 

26

 

TMEM43

 

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

 

AD

 

4

 

24

 

TNNI3

 

Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated  cardiomyopathy (DCM)

 

AD/AR

 

56

 

129

 

TNNI3K

 

Cardiac conduction disease with or without dilated cardiomyopathy

 

AD

 

1

 

3

 

TNNT2

 

Left ventricular noncompaction, Hypertrophic cardiomyopathy

(HCM), Cardiomyopathy, restrictive, Dilated  cardiomyopathy (DCM)

 

AD

 

61

 

148

 

TRDN

 

Ventricular tachycardia, catecholaminergic polymorphic

 

AR

 

19

 

6

 

 

TRPM4Progressive familial heart blockAD532

 

TTN*

 

Dilated  cardiomyopathy (DCM), Tibial muscular dystrophy, Limb- girdle muscular dystrophy, Hereditary myopathy with early respiratory failure,  Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type  2J

 

AD

 

818

 

327

GeneAssociated phenotypesInheritanceClinVarHGMD

 

BAG3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

39

 

62

 

CDH2

 

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

 

AD

 

1

 

6

 

CTNNA3

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

7

 

46

 

DES

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser type

 

AD/AR

 

64

 

124

 

DSC2

 

Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia

 

AD/AR

 

32

 

87

 

DSG2            Arrhythmogenic right ventricular dysplasia, Dilated  cardiomyopathy

(DCM)

AD                           44               129

 

 

 

DSP

 

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal  acantholytic

 

AD/AR

 

177

 

296

 

FLNC*

 

Myopathy

 

AD

 

54

 

109

 

JUP

 

Arrhythmogenic right ventricular dysplasia, Naxos disease

 

AD/AR

 

8

 

46

 

LDB3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

9

 

14

 

LEMD2

 

Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated  cardiomyopathy (DCM)

 

AR

 

1

 

1

 

LMNA

 

Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated  cardiomyopathy (DCM), Mandibuloacral dysplasia type  A, Progeria Hutchinson-Gilford type

 

AD/AR

 

250

 

564

 

MYH7

 

Hypertrophic cardiomyopathy (HCM), Myopathy, myosin  storage, Myopathy, distal,  Dilated  cardiomyopathy (DCM)

 

AD

 

305

 

986

 

NKX2-5

 

Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot

 

AD

 

45

 

108

 

PKP2*

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

150

 

289

 

PLN

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD/AR

 

8

 

30

 

RYR2

 

Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia

 

AD

 

124

 

372

 

SCN5A

 

Heart  block,  nonprogressive, Heart  block,  progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated  cardiomyopathy (DCM)

 

AD/AR/Digenic

 

234

 

899

 

TGFB3

 

Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia

 

AD

 

19

 

26

 

TMEM43

 

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

 

AD

 

4

 

24

 

TTN*

 

Dilated  cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type  2J

 

AD

 

818

 

327

GeneAssociated phenotypesInheritanceClinVarHGMD

 

CACNB2

 

Brugada syndrome

 

AD

 

4

 

22

 

GATA6

 

Heart  defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of Fallot

 

AD

 

16

 

82

 

HCN4

 

Sick sinus syndrome, Brugada syndrome, Left ventricular non- compaction cardiomyopathy (LVNC)

 

AD

 

8

 

34

 

KCNA5

 

Atrial fibrillation

 

AD

 

4

 

25

 

KCNE1

 

Long QT syndrome, Jervell and Lange-Nielsen syndrome

 

AD/AR/Digenic

 

11

 

46

 

KCNE2

 

Long QT syndrome, Atrial fibrillation, familial

 

AD

 

5

 

24

 

KCNH2

 

Short  QT syndrome, Long QT syndrome

 

AD

 

371

 

933

 

KCNJ2

 

Short  QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation

 

AD

 

41

 

93

 

KCNJ5

 

Long QT syndrome, Hyperaldosteronism, familial

 

AD

 

7

 

15

 

 

KCNQ1

Short  QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and

Lange-Nielsen syndrome

AD/AR/Digenic298631

 

LDB3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

9

 

14

 

LMNA

 

Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated  cardiomyopathy (DCM), Mandibuloacral dysplasia type  A, Progeria Hutchinson-Gilford type

 

AD/AR

 

250

 

564

 

NUP155

 

Atrial fibrillation  15

 

AR

 

2

 

1

 

RYR2

 

Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia

 

AD

 

124

 

372

 

SCN10A

 

Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, Primary  erythermalgia, Sodium channelopathy-related small fiber neuropathy, Brugada syndrome

 

AD/AR

 

2

 

76

 

SCN1B

 

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy,  generalized, with febrile  seizures plus, type  1, Epileptic encephalopathy, early infantile, 52

 

AD

 

16

 

31

 

SCN3B

 

Atrial fibrillation, familial, Brugada syndrome

 

AD

 

3

 

7

 

SCN5A

 

Heart  block,  nonprogressive, Heart  block,  progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated  cardiomyopathy (DCM)

 

AD/AR/Digenic

 

234

 

899

 

TBX5

 

Holt-Oram syndrome

 

AD

 

61

 

127

GeneAssociated phenotypesInheritanceClinVarHGMD

 

CACNA1C*

 

Brugada syndrome, Timothy syndrome

 

AD

 

19

 

68

 

CACNB2

 

Brugada syndrome

 

AD

 

4

 

22

 

HCN4

 

Sick sinus syndrome, Brugada syndrome, Left ventricular non- compaction cardiomyopathy (LVNC)

 

AD

 

8

 

34

 

KCNH2

 

Short  QT syndrome, Long QT syndrome

 

AD

 

371

 

933

 

SCN3B

 

Atrial fibrillation, familial, Brugada syndrome

 

AD

 

3

 

7

 

SCN5A

 

Heart  block,  nonprogressive, Heart  block,  progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated  cardiomyopathy (DCM)

 

AD/AR/Digenic

 

234

 

899

 

TRPM4

 

Progressive familial heart block

 

AD

 

5

 

32

GeneAssociated phenotypesInheritanceClinVarHGMD

 

AARS2

 

Leukoencephalopathy, progressive, with ovarian  failure,  Combined oxidative phosphorylation deficiency 8

 

AR

 

19

 

31

 

ABCC6*

 

Pseudoxanthoma elasticum

 

AR

 

352

 

377

 

ABCC9

 

Atrial fibrillation, Cantu syndrome, Dilated  cardiomyopathy (DCM)

 

AD

 

27

 

46

 

ACAD9

 

Acyl-CoA dehydrogenase family, deficiency

 

AR

 

26

 

61

 

ACADVL

 

Acyl-CoA dehydrogenase, very long chain,  deficiency

 

AR

 

119

 

282

 

ACTA1

 

Myopathy

 

AD/AR

 

68

 

212

 

ACTC1

 

Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)

 

AD

 

23

 

63

 

ACTN2

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

11

 

44

 

 

AGK*Sengers syndrome, Cataract 38AR1827

 

AGL

 

Glycogen storage disease

 

AR

 

142

 

245

 

ALMS1*

 

Alström  syndrome

 

AR

 

197

 

302

 

ALPK3

 

Pediatric cardiomyopathy

 

AR

 

12

 

6

 

ANO5

 

Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies

 

AD/AR

 

64

 

121

 

APOA1

 

Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia

 

AD/AR

 

28

 

71

 

BAG3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

39

 

62

 

BRAF*

 

LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome

 

AD

 

134

 

65

 

CALR3

 

Cardiomyopathy, familial hypertrophic, 19

 

AD

 

 

3

 

CAPN3

 

Muscular dystrophy, limb-girdle, Eosinophilic myositis

 

AR

 

184

 

437

 

CASQ2

 

Ventricular tachycardia, catecholaminergic, polymorphic

 

AR

 

24

 

34

 

CASZ1

 

Dilated  cardiomyopathy (DCM), Ventricular septal defect

 

AD

 

3

 

2

 

CBL

 

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

 

AD

 

24

 

43

 

CDH2

 

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

 

AD

 

1

 

6

 

CHRM2

 

Dilated  cardiomyopathy (DCM)

 

AD/AR

 

 

1

 

COX15

 

Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

 

AR

 

7

 

5

 

CPT2

 

Carnitine palmitoyltransferase II deficiency

 

AR

 

72

 

111

 

CRYAB

 

Cataract, myofibrillar  myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract  16, multiple types, Myopathy, myofibrillar, fatal infantile  hypertonic, alpha-B crystallin-related

 

AD

 

14

 

28

 

CSRP3

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

4

 

30

 

CTNNA3

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

7

 

46

 

DBH

 

Dopamine beta-hydroxylase deficiency

 

AR

 

10

 

11

 

DES

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser type

 

AD/AR

 

64

 

124

 

DMD

 

Becker  muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)

 

XL

 

832

 

3915

 

DNAJC19

 

3-methylglutaconic aciduria

 

AR

 

3

 

6

 

DOLK

 

Congenital disorder of glycosylation

 

AR

 

8

 

11

 

DPM3

 

Congenital disorder of glycosylation, Dilated  cardiomyopathy (DCM), Limb-girdle muscular dystrophy

 

AR

 

3

 

2

 

 

DSC2              Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia

AD/AR                     32               87

 

 

 

DSG2              Arrhythmogenic right ventricular dysplasia, Dilated  cardiomyopathy

(DCM)

AD                           44               129

 

 

 

DSP

 

Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal  acantholytic

 

AD/AR

 

177

 

296

 

DTNA

 

Left ventricular noncompaction 1

 

AD

 

3

 

7

 

DYSF

 

Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal,  with anterior tibial onset

 

AR

 

244

 

529

 

EEF1A2

 

Epileptic encephalopathy, early infantile, Mental retardation

 

AD

 

17

 

12

 

ELAC2

 

Combined oxidative phosphorylation deficiency 17

 

AR

 

11

 

15

 

EMD

 

Emery-Dreifuss muscular dystrophy

 

XL

 

48

 

113

 

EPG5

 

Vici syndrome

 

AR

 

36

 

66

 

ETFA

 

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

 

AR

 

8

 

29

 

ETFB

 

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

 

AR

 

6

 

15

 

ETFDH

 

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

 

AR

 

43

 

190

 

FBXL4

 

Mitochondrial DNA depletion syndrome

 

AR

 

55

 

47

 

FBXO32

 

Dilated  cardiomyopathy (DCM)

 

AD/AR

 

 

2

 

FHL1*

 

Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathy

 

XL

 

26

 

62

 

FHOD3

 

Cardiomyopathy, familial hypertrophic

 

AD

 

 

1

 

FKRP

 

Muscular dystrophy-dystroglycanopathy

 

AR

 

66

 

140

 

FKTN

 

Muscular dystrophy-dystroglycanopathy, Dilated  cardiomyopathy

(DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)

 

AD/AR

 

45

 

58

 

FLNC*

 

Myopathy

 

AD

 

54

 

109

 

FOXD4*

 

Dilated  cardiomyopathy (DCM)

 

AD

 

 

1

 

FOXRED1

 

Leigh syndrome, Mitochondrial complex I deficiency

 

AR

 

15

 

8

 

FXN*

 

Friedreich ataxia

 

AR

 

13

 

63

 

GAA

 

Glycogen storage disease

 

AR

 

193

 

573

 

GATA4

 

Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defect

 

AD

 

37

 

140

 

 

GATA6Heart  defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of FallotAD1682

 

GATAD1

 

Dilated  cardiomyopathy (DCM)

 

AR

 

31

 

1

 

GATC

 

Cardiomyopathy, fatal

 

AR

 

1

 

 

GBE1

 

Glycogen storage disease

 

AR

 

36

 

70

 

GFM1

 

Combined oxidative phosphorylation deficiency

 

AR

 

19

 

19

 

GLA

 

Fabry disease

 

XL

 

226

 

937

 

GLB1

 

GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)

 

AR

 

90

 

220

 

GMPPB

 

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathy

 

AR

 

19

 

41

 

GSK3B

 

Hypertrophic cardiomyopathy, Dilated  cardiomyopathy (DCM)

 

 

2

 

 

GTPBP3

 

Combined oxidative phosphorylation deficiency 23

 

AR

 

14

 

15

 

GUSB*

 

Mucopolysaccharidosis

 

AR

 

27

 

62

 

HADHA

 

Trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA

dehydrogenase deficiency

 

AR

 

65

 

71

 

HAND1

 

Congenital heart defects, Dilated  cardiomyopathy

 

AD

 

 

9

 

HCN4

 

Sick sinus syndrome, Brugada syndrome, Left ventricular non- compaction cardiomyopathy (LVNC)

 

AD

 

8

 

34

 

HFE

 

Hemochromatosis

 

AR/Digenic

 

11

 

56

 

HRAS

 

Costello syndrome, Congenital myopathy with excess of muscle spindles

 

AD

 

43

 

31

 

IDUA

 

Mucopolysaccharidosis

 

AR

 

105

 

282

 

ILK

 

Dilated  cardiomyopathy (DCM)

 

AD/AR

 

 

10

 

ISPD

 

Muscular dystrophy-dystroglycanopathy

 

AR

 

38

 

53

 

JPH2

 

Hypertrophic cardiomyopathy (HCM)

 

AD

 

3

 

13

 

JUP

 

Arrhythmogenic right ventricular dysplasia, Naxos disease

 

AD/AR

 

8

 

46

 

KLHL24

 

Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Dilated  cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

 

AD/AR

 

5

 

5

 

KRAS*

 

Noonan syndrome, Cardiofaciocutaneous syndrome

 

AD

 

63

 

35

 

LAMA2

 

Muscular dystrophy, congenital merosin-deficient

 

AR

 

199

 

301

 

LAMP2

 

Danon  disease

 

XL

 

62

 

101

 

LARGE

 

Muscular dystrophy-dystroglycanopathy

 

AR

 

19

 

27

 

LDB3

 

Dilated  cardiomyopathy (DCM), Myopathy, myofibrillar

 

AD

 

9

 

14

 

 

LEMD2           Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated  cardiomyopathy (DCM)

AR                           1                 1

 

 

 

LMNA

 

Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated  cardiomyopathy (DCM), Mandibuloacral dysplasia type  A, Progeria Hutchinson-Gilford type

 

AD/AR

 

250

 

564

 

LMOD2

 

Familial dilated cardiomyopathy

 

AR

  

 

LRRC10

 

Dilated  cardiomyopathy (DCM)

 

AD/AR

 

 

4

 

LZTR1

 

Schwannomatosis, Noonan syndrome

 

AD/AR

 

34

 

71

 

MAP2K1

 

Cardiofaciocutaneous syndrome

 

AD

 

45

 

23

 

MAP2K2

 

Cardiofaciocutaneous syndrome

 

AD

 

21

 

35

 

MAP3K8

 

Noonan syndrome

 

AD

 

 

1

 

MIPEP

 

Combined oxidative phosphorylation deficiency 31

 

AR

 

5

 

8

 

MLYCD

 

Malonyl-CoA decarboxylase deficiency

 

AR

 

14

 

38

 

MT-ATP6

 

Neuropathy, ataxia, and retinitis pigmentosa, Leber  hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile  hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial

 

Mitochondrial

 

19

 

 

MT-ATP8

 

Cardiomyopathy, apical  hypertrophic, and neuropathy, Cardiomyopathy, infantile  hypertrophic

 

Mitochondrial

 

4

 

 

MT-CO1

 

Myoglobinuria, recurrent, Leber  hereditary optic  neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency

 

Mitochondrial

 

17

 

 

MT-CO2

 

Cytochrome c oxidase deficiency

 

Mitochondrial

 

8

 

 

MT-CO3

 

Cytochrome c oxidase deficiency, Leber  hereditary optic  neuropathy

 

Mitochondrial

 

9

 

 

MT-CYB

 

Leber  hereditary optic  neuropathy

 

Mitochondrial

 

69

 

 

MT-ND1

 

Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke- like episodes, Leber  hereditary optic  neuropathy, Leber  optic  atrophy and dystonia

 

Mitochondrial

 

21

 

 

MT-ND2

 

Leber  hereditary optic  neuropathy, Mitochondrial complex I deficiency

 

Mitochondrial

 

6

 

 

MT-ND3

 

Leber  optic  atrophy and dystonia, Mitochondrial complex I deficiency

 

Mitochondrial

 

7

 

 

MT-ND4

 

Leber  hereditary optic  neuropathy, Leber  optic  atrophy and dystonia, Mitochondrial complex I deficiency

 

Mitochondrial

 

11

 

 

MT-ND4L

 

Leber  hereditary optic  neuropathy

 

Mitochondrial

 

2

 

 

MT-ND5

 

Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke-like episodes, Leber hereditary optic  neuropathy, Mitochondrial complex I deficiency

 

Mitochondrial

 

19

 

 

MT-ND6

 

Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke- like episodes, Oncocytoma, Leber  hereditary optic  neuropathy, Leber optic  atrophy and dystonia, Mitochondrial complex I deficiency

 

Mitochondrial

 

16

 

 

MT-RNR1      Deafness, mitochondrial                                                                                            Mitochondrial         3

 

MT-RNR2      Chloramphenicol toxicity/resistance                                                                     Mitochondrial         2

 

 

MT-TA           Leber  hereditary optic  neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)

Mitochondrial         4

 

 

 

MT-TC            Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke- like episodes

Mitochondrial         3

 

 

MT-TD            Mitochondrial multisystemic disorder                                                                    Mitochondrial         1

 

 

MT-TE            Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes

Mitochondrial         5

 

 

 

MT-TF             Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic  acidosis and stroke-like episodes

Mitochondrial         7

 

 

MT-TG            Hypertrophic cardiomyopathy, Encephalopathy, Myopathy                              Mitochondrial         3

 

 

MT-TH            Mitochondrial encephalomyopathy with lactic  acidosis and stroke-like episodes

Mitochondrial         4

 

 

MT-TI             Progressive external ophthalmoplegia                                                                    Mitochondrial         7

 

MT-TK            Myoclonic epilepsy with ragged red fibers                                                           Mitochondrial         5

 

 

MT-TL1          Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to

Mitochondrial         14

 

 

 

MT-TL2          Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder

Mitochondrial         5

 

 

 

MT-TM           Mitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic  acidosis and stroke-like episodes

Mitochondrial         1

 

 

MT-TN            Progressive external ophthalmoplegia                                                                    Mitochondrial         3

 

MT-TP             Mitochondrial multisystemic disorder                                                                    Mitochondrial         2

 

 

MT-TQ            Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke- like episodes, Encephalopathy

Mitochondrial         2

 

 

MT-TR            Dilated  cardiomyopathy (DCM)                                                                              Mitochondrial         2

 

 

MT-TS1          Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke-like episodes

Mitochondrial         10

 

 

MT-TS2           Mitochondrial multisystemic disorder                                                                    Mitochondrial         2

 

MT-TT                                                                                                                                                 Mitochondrial         5

 

 

MT-TV           Mitochondrial myopathy, encephalopathy, lactic  acidosis, and stroke- like episodes

Mitochondrial         3

 

 

MT-TW           Leigh syndrome, Mitochondrial Myopathy                                                            Mitochondrial         8

 

 

 

MT-TY

 

 

Mitochondrial

 

4

 

 

MTO1

 

Combined oxidative phosphorylation deficiency

 

AR

 

16

 

24

 

MYBPC3

 

Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

482

 

1048

 

MYBPHL

 

Dilated  cardiomyopathy (DCM)

 

AD

 

 

3

 

MYH6

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM), Atrial septal defect 3

 

AD

 

14

 

123

 

MYH7

 

Hypertrophic cardiomyopathy (HCM), Myopathy, myosin  storage, Myopathy, distal,  Dilated  cardiomyopathy (DCM)

 

AD

 

305

 

986

 

MYL2

 

Hypertrophic cardiomyopathy (HCM), Infantile  type  I muscle fibre disease and cardiomyopathy

 

AD

 

21

 

67

 

MYL3

 

Hypertrophic cardiomyopathy (HCM)

 

AD/AR

 

12

 

41

 

MYL4

 

Atrial fibrillation, familial, 18

 

AD

 

2

 

2

 

MYOT

 

Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid body

 

AD

 

6

 

16

 

MYPN

 

Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated  cardiomyopathy (DCM), Nemaline myopathy 11, autosomal recessive

 

AD

 

6

 

44

 

MYRF

 

Congenital heart malformations, Congenital abnormalities of the kidney and urinary  tract

 

AD

 

1

 

1

 

NDUFAF2

 

Mitochondrial complex I deficiency, Leigh syndrome

 

AR

 

9

 

8

 

NEXN

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

6

 

43

 

NF1*

 

Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome

 

AD

 

1157

 

2901

 

NKX2-5

 

Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot

 

AD

 

45

 

108

 

NONO

 

Mental retardation, X-linked, syndrome 34, Left ventricular non- compaction cardiomyopathy (LVNC)

 

XL

 

10

 

4

 

NRAP

 

Dilated  cardiomyopathy (DCM)

 

AR

 

1

 

6

 

NRAS

 

Noonan syndrome

 

AD

 

31

 

14

 

PCCA

 

Propionic acidemia

 

AR

 

66

 

125

 

PCCB

 

Propionic acidemia

 

AR

 

68

 

115

 

PKP2*

 

Arrhythmogenic right ventricular dysplasia

 

AD

 

150

 

289

 

PLEC

 

Muscular dystrophy, limb-girdle, Epidermolysis bullosa

 

AR

 

36

 

103

 

PLEKHM2

 

Dilated  cardiomyopathy (DCM), left ventricular noncompaction

 

AR

 

1

 

1

 

PLN

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD/AR

 

8

 

30

 

 

 

PNPLA2

 

Neutral lipid storage disease with myopathy

 

AR

 

13

 

35

 

PPA2

 

Sudden cardiac failure,  infantile

 

AR

 

8

 

8

 

PPCS

 

Dilated  cardiomyopathy (DCM)

 

AR

 

 

4

 

PPP1CB#

 

Noonan syndrome-like disorder with loose  anagen hair 2

 

AD

 

8

 

11

 

PRDM16

 

Left ventricular noncompaction, Dilated  cardiomyopathy (DCM)

 

AD

 

17

 

20

 

PRKAG2#

 

Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome, Glycogen storage disease of heart, lethal  congenital

 

AD

 

19

 

57

 

PTPN11

 

Noonan syndrome, Metachondromatosis

 

AD

 

135

 

140

 

QRSL1

 

Mitochondrial multisystemic disorder

 

AR

 

4

 

2

 

RAF1

 

LEOPARD syndrome, Noonan syndrome, Dilated  cardiomyopathy

(DCM)

 

AD

 

45

 

53

 

RASA2#

 

Noonan syndrome

 

AD

 

1

 

3

 

RBCK1

 

Polyglucosan body  myopathy

 

AR

 

11

 

14

 

RBM20

 

Dilated  cardiomyopathy (DCM)

 

AD

 

19

 

47

 

RIT1

 

Noonan syndrome

 

AD

 

23

 

26

 

RMND1*

 

Combined oxidative phosphorylation deficiency

 

AR

 

17

 

15

 

RRAS

 

Noonan-syndrome like phenotype

 

AD/AR

 

 

2

 

RYR2

 

Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia

 

AD

 

124

 

372

 

SCN5A

 

Heart  block,  nonprogressive, Heart  block,  progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated  cardiomyopathy (DCM)

 

AD/AR/Digenic

 

234

 

899

 

SCNN1B

 

Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride

 

AD/AR

 

19

 

47

 

SCNN1G

 

Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride

 

AD/AR

 

8

 

20

 

SCO1

 

Mitochondrial complex IV deficiency

 

AR

 

6

 

5

 

SCO2

 

Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia

 

AR

 

42

 

37

 

SDHA*

 

Leigh syndrome/Mitochondrial respiratory chain  complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GG

 

AD/AR

 

54

 

87

 

SELENON

 

Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion

 

AR

 

38

 

63

 

SGCA

 

Muscular dystrophy, limb-girdle

 

AR

 

60

 

100

 

SGCB

 

Muscular dystrophy, limb-girdle

 

AR

 

37

 

64

 

 

 

SGCD

 

Muscular dystrophy, limb-girdle, Dilated  cardiomyopathy (DCM)

 

AR

 

21

 

27

 

SGCG

 

Muscular dystrophy, limb-girdle

 

AR

 

33

 

63

 

SHOC2

 

Noonan-like syndrome with loose  anagen hair

 

AD

 

2

 

4

 

SLC22A5

 

Carnitine deficiency, systemic primary

 

AR

 

98

 

151

 

SLC25A20

 

Carnitine-acylcarnitine translocase deficiency

 

AR

 

15

 

42

 

SLC25A4

 

Progressive external ophthalmoplegia with mitochondrial DNA

deletions, Mitochondrial DNA depletion syndrome

 

AD/AR

 

12

 

14

 

SMCHD1

 

Facioscapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy, type  2

 

AD

 

51

 

79

 

SOS1

 

Noonan syndrome

 

AD

 

44

 

71

 

SOS2

 

Noonan syndrome 9

 

AD

 

4

 

6

 

SPEG

 

Centronuclear myopathy 5

 

AR

 

5

 

11

 

SPRED1

 

Legius syndrome

 

AD

 

38

 

71

 

TAB2

 

Congenital heart defects, multiple types, 2

 

AD

 

13

 

31

 

TAZ

 

3-Methylglutaconic aciduria, (Barth syndrome)

 

XL

 

45

 

158

 

TBX20*

 

Atrial septal defect 4

 

AD

 

4

 

28

 

TBX5

 

Holt-Oram syndrome

 

AD

 

61

 

127

 

TCAP

 

Muscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy

(HCM), Dilated  cardiomyopathy (DCM)

 

AD/AR

 

12

 

28

 

TGFB3

 

Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia

 

AD

 

19

 

26

 

TMEM43

 

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

 

AD

 

4

 

24

 

TMEM70

 

Mitochondrial complex V (ATP synthase) deficiency

 

AR

 

12

 

18

 

TNNC1

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

9

 

24

 

TNNI3

 

Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated  cardiomyopathy (DCM)

 

AD/AR

 

56

 

129

 

TNNI3K

 

Cardiac conduction disease with or without dilated cardiomyopathy

 

AD

 

1

 

3

 

TNNT2

 

Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated  cardiomyopathy (DCM)

 

AD

 

61

 

148

 

TOR1AIP1

 

Muscular dystrophy with progressive weakness, distal contractures and rigid spine

 

AD/AR

 

3

 

5

 

TPM1

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

34

 

98

 

TRIM32

 

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

 

AR

 

13

 

16

 

TSFM

 

Combined oxidative phosphorylation deficiency

 

AR

 

6

 

6

 

TTN*              Dilated  cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory

failure,  Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type  2J

AD                           818             327

 

 

 

TTR

 

Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related

 

AD

 

52

 

148

 

VCL

 

Hypertrophic cardiomyopathy (HCM), Dilated  cardiomyopathy (DCM)

 

AD

 

8

 

30

 

VCP

 

Amyotrophic lateral  sclerosis, Inclusion  body  myopathy with early- onset Paget disease, Charcot-Marie-Tooth disease

 

AD

 

17

 

61

 

VPS13A

 

Choreoacanthocytosis

 

AR

 

19

 

115

 

XK

 

McLeod syndrome

 

XL

 

10

 

41

GeneAssociated phenotypesInheritanceClinVarHGMD
ANK2Cardiac arrhythmia, Long QT syndromeAD673
CALM1*Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndromeAD1010
CALM2Long QT syndromeAD810
CALM3Catecholaminergic polymorphic ventricular tachycardiaAD/AR44
CASQ2Ventricular tachycardia, catecholaminergic, polymorphicAR2434
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
RYR2Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasiaAD124372
TECRLVentricular tachycardia, catecholaminergic polymorphic, 3AR23
TRDNVentricular tachycardia, catecholaminergic polymorphicAR196
GeneAssociated phenotypesInheritanceClinVarHGMD
AARS2Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation deficiency 8AR1931
ABCC6*Pseudoxanthoma elasticumAR352377
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD2746
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2661
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR119282
ACTA1MyopathyAD/AR68212
ACTA2Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndromeAD2076
ACTC1Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)AD2363
ACTN2Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD1144
AGK*Sengers syndrome, Cataract 38AR1827
AGLGlycogen storage diseaseAR142245
AGPAT2Lipodystrophy, congenital generalizedAR2539
AKAP9Long QT syndromeAD438
ALMS1*Alström syndromeAR197302
ALPK3Pediatric cardiomyopathyAR126
ANK2Cardiac arrhythmia, Long QT syndromeAD673
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophiesAD/AR64121
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2871
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1AR31
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD3962
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
CACNA1C*Brugada syndrome, Timothy syndromeAD1968
CACNB2Brugada syndromeAD422
CALM1*Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndromeAD1010
CALM2Long QT syndromeAD810
CALM3Catecholaminergic polymorphic ventricular tachycardiaAD/AR44
CALR3Cardiomyopathy, familial hypertrophic, 19AD3
CAPN3Muscular dystrophy, limb-girdle, Eosinophilic myositisAR184437
CASQ2Ventricular tachycardia, catecholaminergic, polymorphicAR2434
CASZ1Dilated cardiomyopathy (DCM), Ventricular septal defectAD32
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2AD/AR2350
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDH2Arrhythmogenic right ventricular cardiomyopathy (ARVC)AD16
CHRM2Dilated cardiomyopathy (DCM)AD/AR1
COX15Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyAR75
CPT2Carnitine palmitoyltransferase II deficiencyAR72111
CRYABCataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedAD1428
CSRP3Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD430
CTNNA3Arrhythmogenic right ventricular dysplasiaAD746
DBHDopamine beta-hydroxylase deficiencyAR1011
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser typeAD/AR64124
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL8323915
DNAJC193-methylglutaconic aciduriaAR36
DOLKCongenital disorder of glycosylationAR811
DPM3Congenital disorder of glycosylation, Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophyAR32
DSC2Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasiaAD/AR3287
DSG2Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)AD44129
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
DTNALeft ventricular noncompaction 1AD37
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onsetAR244529
EEF1A2Epileptic encephalopathy, early infantile, Mental retardationAD1712
ELAC2Combined oxidative phosphorylation deficiency 17AR1115
EMDEmery-Dreifuss muscular dystrophyXL48113
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
EPG5Vici syndromeAR3666
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
FAHTyrosinemiaAR53102
FBXL4Mitochondrial DNA depletion syndromeAR5547
FBXO32Dilated cardiomyopathy (DCM)AD/AR2
FHL1*Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathyXL2662
FHOD3Cardiomyopathy, familial hypertrophicAD1
FKRPMuscular dystrophy-dystroglycanopathyAR66140
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
FLNC*MyopathyAD54109
FOXD4*Dilated cardiomyopathy (DCM)AD1
FOXRED1Leigh syndrome, Mitochondrial complex I deficiencyAR158
FXN*Friedreich ataxiaAR1363
GAAGlycogen storage diseaseAR193573
GATA4*Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defectAD37140
GATA5Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defectAD532
GATA6Heart defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of FallotAD1682
GATAD1Dilated cardiomyopathy (DCM)AR311
GATC*Cardiomyopathy, fatalAR1
GBE1Glycogen storage diseaseAR3670
GFM1Combined oxidative phosphorylation deficiencyAR1919
GLAFabry diseaseXL226937
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR90220
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathyAR1941
GSK3BHypertrophic cardiomyopathy, Dilated cardiomyopathy (DCM)2
GTPBP3Combined oxidative phosphorylation deficiency 23AR1415
GUSB*MucopolysaccharidosisAR2762
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR6571
HAND1Congenital heart defects, Dilated cardiomyopathyAD9
HAND2Dilated cardiomyopathy (DCM), Congenital heart malformationsAD25
HCN4Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)AD834
HFEHemochromatosisAR/Digenic1156
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IDUAMucopolysaccharidosisAR105282
ILKDilated cardiomyopathy (DCM)AD/AR10
ISPDMuscular dystrophy-dystroglycanopathyAR3853
JPH2Hypertrophic cardiomyopathy (HCM)AD313
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR846
KCNA5Atrial fibrillationAD425
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndromeAD/AR/Digenic1146
KCNE2Long QT syndrome, Atrial fibrillation, familialAD524
KCNH2Short QT syndrome, Long QT syndromeAD371933
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
KCNJ5Long QT syndrome, Hyperaldosteronism, familialAD715
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic298631
KLHL24Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)AD/AR55
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMA2Muscular dystrophy, congenital merosin-deficientAR199301
LAMP2Danon diseaseXL62101
LARGEMuscular dystrophy-dystroglycanopathyAR1927
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD914
LEMD2Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM)AR11
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
LMOD2Familial dilated cardiomyopathyAR
LRRC10Dilated cardiomyopathy (DCM)AD/AR4
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MAP3K8Noonan syndromeAD1
MIPEP*Combined oxidative phosphorylation deficiency 31AR58
MLYCDMalonyl-CoA decarboxylase deficiencyAR1438
MRPL3*Combined oxidative phosphorylation deficiency 9AR24
MRPL44Combined oxidative phosphorylation deficiency 16AR22
MRPS22Combined oxidative phosphorylation deficiency 5AR79
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MTO1#Combined oxidative phosphorylation deficiencyAR1624
MYBPC3Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD4821048
MYBPHLDilated cardiomyopathy (DCM)AD3
MYH6Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Atrial septal defect 3AD14123
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD305986
MYL2Hypertrophic cardiomyopathy (HCM), Infantile type I muscle fibre disease and cardiomyopathyAD2167
MYL3Hypertrophic cardiomyopathy (HCM)AD/AR1241
MYL4Atrial fibrillation, familial, 18AD22
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR24
MYOTMyopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid bodyAD616
MYPNHypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Nemaline myopathy 11, autosomal recessiveAD644
MYRFCongenital heart malformations, Congenital abnormalities of the kidney and urinary tractAD11
NDUFAF2Mitochondrial complex I deficiency, Leigh syndromeAR98
NEXNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD643
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NKX2-5Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of FallotAD45108
NONOMental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)XL104
NOS1APRomano-Ward syndromeAD/AR4
NRAPDilated cardiomyopathy (DCM)AR16
NRASNoonan syndromeAD3114
NUP155Atrial fibrillation 15AR21
PARS2Alpers syndromeAR36
PCCAPropionic acidemiaAR66125
PCCB#Propionic acidemiaAR68115
PKP2#*Arrhythmogenic right ventricular dysplasiaAD150289
PLECMuscular dystrophy, limb-girdle, Epidermolysis bullosaAR36103
PLEKHM2Dilated cardiomyopathy (DCM), left ventricular noncompactionAR11
PLNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR830
PNPLA2Neutral lipid storage disease with myopathyAR1335
POMT1Muscular dystrophy-dystroglycanopathyAR4796
PPA2Sudden cardiac failure, infantileAR88
PPCSDilated cardiomyopathy (DCM)AR4
PPP1CBNoonan syndrome-like disorder with loose anagen hair 2AD811
PRDM16Left ventricular noncompaction, Dilated cardiomyopathy (DCM)AD1720
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome, Glycogen storage disease of heart, lethal congenitalAD1957
PTPN11Noonan syndrome, MetachondromatosisAD135140
QRSL1Mitochondrial multisystemic disorderAR42
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RASA2Noonan syndromeAD13
RBCK1Polyglucosan body myopathyAR1114
RBM20Dilated cardiomyopathy (DCM)AD1947
RIT1Noonan syndromeAD2326
RMND1*Combined oxidative phosphorylation deficiencyAR1715
RRASNoonan-syndrome like phenotypeAD/AR2
RYR2Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasiaAD124372
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndromeAD2156
SCN10AParoxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy, Brugada syndromeAD/AR276
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy, generalized, with febrile seizures plus, type 1, Epileptic encephalopathy, early infantile, 52AD1631
SCN3BAtrial fibrillation, familial, Brugada syndromeAD37
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic234899
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
SCNN1GLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR820
SCO1Mitochondrial complex IV deficiencyAR65
SCO2Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, MyopiaAR4237
SDHA*Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GGAD/AR5487
SELENON#Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportionAR3863
SGCAMuscular dystrophy, limb-girdleAR60100
SGCBMuscular dystrophy, limb-girdleAR3764
SGCDMuscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM)AR2127
SGCGMuscular dystrophy, limb-girdleAR3363
SHOC2Noonan-like syndrome with loose anagen hairAD24
SLC22A5Carnitine deficiency, systemic primaryAR98151
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1542
SLC25A3Micochondrial phosphate carrier deficiencyAR25
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1214
SMCHD1Facioscapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy, type 2AD5179
SOS1Noonan syndromeAD4471
SOS2Noonan syndrome 9AD46
SPEGCentronuclear myopathy 5AR511
SPRED1Legius syndromeAD3871
STAG2Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderXL614
TAB2Congenital heart defects, multiple types, 2AD1331
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL45158
TBX20*Atrial septal defect 4AD428
TBX5Holt-Oram syndromeAD61127
TCAPMuscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR1228
TECRLVentricular tachycardia, catecholaminergic polymorphic, 3AR23
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD1926
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophyAD424
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR1218
TNNC1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD924
TNNI3Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD/AR56129
TNNI3KCardiac conduction disease with or without dilated cardiomyopathyAD13
TNNT2Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD61148
TOR1AIP1Muscular dystrophy with progressive weakness, distal contractures and rigid spineAD/AR35
TPM1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD3498
TRDNVentricular tachycardia, catecholaminergic polymorphicAR196
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR1316
TRPM4Progressive familial heart blockAD532
TSFM#Combined oxidative phosphorylation deficiencyAR66
TTN*Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type 2JAD818327
TTRDystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-relatedAD52148
VARS2Combined oxidative phosphorylation deficiency 20AR710
VCLHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD830
VCPAmyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth diseaseAD1761
VPS13AChoreoacanthocytosisAR19115
XKMcLeod syndromeXL1041
GeneAssociated phenotypesInheritanceClinVarHGMD
ABL1Congenital heart defects and skeletal malformations syndrome (CHDSKM)AD305
ACTA2Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndromeAD2076
ACTB*Baraitser-Winter syndromeAD5560
ACTC1Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)AD2363
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ACVR1Fibrodysplasia ossificans progressivaAD1419
ACVR2BHeterotaxy, visceral, 4, autosomalAD12
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTS17Weill-Marchesani-like syndromeAR67
AFF4Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)AD33
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisXL45
ARHGAP31Adams-Oliver syndromeAD36
ARID1ACoffin-Siris syndrome, Mental retardationAD2735
ARID1BCoffin-Siris syndrome, Mental retardationAD153185
B3GAT3#*Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsAR613
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndromeXL4053
BMPR2Pulmonary hypertension, primary, Pulmonary venoocclusive diseaseAD391572
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
C12ORF57Corpus callosum hypoplasia, recessive, Temtamy syndromeAR76
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDK13Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderAD1320
CDK9AR1
CFAP53Heterotaxy, visceral, 6, autosomal recessiveAR44
CHD4Sifrim-Hitz-Weiss syndromeAD1421
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CHRM2Dilated cardiomyopathy (DCM)AD/AR1
CREBBPRubinstein-Taybi syndromeAD175362
CRELD1Atrioventricular septal defect, partial, with or without heterotaxyAD216
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
DHCR7Smith-Lemli-Opitz syndromeAR88217
DLL4Adams-Oliver syndromeAD1314
DOCK6Adams-Oliver syndromeAR2121
EFTUD2Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromicAD4599
EHMT1Kleefstra syndromeAD8689
EIF2AK4Pulmonary venoocclusive diseaseAR2784
ELNCutis laxa, Supravalvular aortic stenosisAD78113
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
EOGTAdams-Oliver syndromeAR85
EP300Rubinstein-Taybi syndromeAD63101
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FOXC1Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomalyAD46135
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
FOXH1Congenital heart malformations, HoloprosencephalyAD33
FOXP1Mental retardation with language impairment and autistic features, Congenital heart malformationsAD4876
GATA4*Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defectAD37140
GATA5Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defectAD532
GATA6Heart defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of FallotAD1682
GDF1Transposition of the great arteries, dextro-looped 3, Double-outlet right ventricleAR1115
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GJA5Progressive familial heart block, Atrial standstill, digenic, Atrial fibrillationAD/Digenic834
GPC3Simpson-Golabi-Behmel syndromeXL3375
HAND1Congenital heart defects, Dilated cardiomyopathyAD9
HAND2Dilated cardiomyopathy (DCM), Congenital heart malformationsAD25
HDAC8Cornelia de Lange syndromeXL4150
HNRNPK*Au-Kline syndromeAD1410
HOXA1Athabaskan brainstem dysgenesis syndrome, Bosley-Salih-Alorainy syndromeAR47
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
JAG1Alagille syndromeAD131610
KDM6AKabuki syndromeXL4069
KMT2DKabuki syndromeAD350670
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
KYNUHydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2AR47
LEFTY2*Left-right axis malformationsAD13
MED12Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeXL2930
MED13LTransposition of the great arteries, dextro-looped 1, Mental retardation and distinctive facial features with or without cardiac defects, Congenital heart defects and intellectual disability, Intellectual disability, autosomal recessiveAD/AR9278
MEIS2Cleft palate, cardiac defects, and mental retardation (CPCMR)AD1018
MMP21Heterotaxy, visceral, 7AR418
MYCNFeingold syndromeAD2741
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR24
MYRFCongenital heart malformations, Congenital abnormalities of the kidney and urinary tractAD11
NAA15Congenital heart malformationsAD1032
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NIPBLCornelia de Lange syndromeAD311425
NKX2-5Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of FallotAD45108
NKX2-6Persistent truncus arteriosus, Conotruncal heart malformationsAD/AR29
NODALHeterotaxy, visceralAD415
NONOMental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)XL104
NOTCH1Aortic valve disease, Adams-Oliver syndromeAD5696
NOTCH2*Alagille syndrome, Hajdu-Cheney syndromeAD3770
NR2F2Congenital heart defects, multiple types, 4AD1216
NSD1Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndromeAD329517
PITX2Axenfeld-Rieger syndrome, Ring dermoid of cornea, Iridogoniodysgenesis, Peters anomalyAD23101
PKD1L1Heterotaxy, visceral, 8, autosomalAR26
PPP1CBNoonan syndrome-like disorder with loose anagen hair 2AD811
PRDM6Patent ductus arteriosus 3, Congenital heart malformations43
PRKD1Congenital heart defects and ectodermal dysplasiaAD27
PTPN11Noonan syndrome, MetachondromatosisAD135140
PUF60Short stature, MicrocephalyAD2430
RAB23Carpenter syndrome 1AR515
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RBM10TARP syndromeXL1210
RERE*Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)2424
RIT1Noonan syndromeAD2326
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndromeAD2156
SMARCB1Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris syndrome 3AD36118
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
SOS1Noonan syndromeAD4471
SOS2Noonan syndrome 9AD46
STAG2Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderXL614
STRA6Microphthalmia, syndromic, Microphthalmia, isolated, with colobomaAR2233
TAB2Congenital heart defects, multiple types, 2AD1331
TBX1Conotruncal anomaly face syndromeAD1772
TBX20*Atrial septal defect 4AD428
TBX5Holt-Oram syndromeAD61127
TFAP2BPatent ductus arteriosus, nonsyndromic, Char syndromeAD1012
TGDSCatel-Manzke syndromeAR67
TLL1Atrial septal defectAD37
TMEM94Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)AR3
ZEB2*Mowat-Wilson syndromeAD154287
ZFPM246,XY sex reversal, Diaphragmatic hernia 3, Tetralogy of FallotAD/AR950
ZIC3Heterotaxy, visceral, VACTERL association, Congenital heart defects, nonsyndromicXL1541
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC6*Pseudoxanthoma elasticumAR352377
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD2746
ACTA1MyopathyAD/AR68212
ACTC1Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)AD2363
ACTN2Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD1144
ALMS1*Alström syndromeAR197302
ALPK3Pediatric cardiomyopathyAR126
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2871
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD3962
CASZ1Dilated cardiomyopathy (DCM), Ventricular septal defectAD32
CHRM2Dilated cardiomyopathy (DCM)AD/AR1
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser typeAD/AR64124
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL8323915
DOLKCongenital disorder of glycosylationAR811
DPM3Congenital disorder of glycosylation, Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophyAR32
DSC2Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasiaAD/AR3287
DSG2Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)AD44129
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onsetAR244529
EEF1A2Epileptic encephalopathy, early infantile, Mental retardationAD1712
EMDEmery-Dreifuss muscular dystrophyXL48113
EPG5Vici syndromeAR3666
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
FBXO32Dilated cardiomyopathy (DCM)AD/AR2
FHOD3Cardiomyopathy, familial hypertrophicAD1
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
FLNC*MyopathyAD54109
FOXD4*Dilated cardiomyopathy (DCM)AD1
GATA4*Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defectAD37140
GATA6Heart defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of FallotAD1682
GATC*Cardiomyopathy, fatalAR1
GBE1Glycogen storage diseaseAR3670
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR90220
GSK3BHypertrophic cardiomyopathy, Dilated cardiomyopathy (DCM)2
HAND1Congenital heart defects, Dilated cardiomyopathyAD9
HCN4Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)AD834
ILKDilated cardiomyopathy (DCM)AD/AR10
JPH2Hypertrophic cardiomyopathy (HCM)AD313
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR846
KLHL24Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)AD/AR55
LAMP2Danon diseaseXL62101
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD914
LEMD2Cataract 46, juvenile onset, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM)AR11
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
LMOD2Familial dilated cardiomyopathyAR
LRRC10Dilated cardiomyopathy (DCM)AD/AR4
MLYCDMalonyl-CoA decarboxylase deficiencyAR1438
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYBPC3Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD4821048
MYBPHLDilated cardiomyopathy (DCM)AD3
MYH6Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Atrial septal defect 3AD14123
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD305986
MYL4Atrial fibrillation, familial, 18AD22
NKX2-5Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of FallotAD45108
NRAPDilated cardiomyopathy (DCM)AR16
PCCAPropionic acidemiaAR66125
PCCB#Propionic acidemiaAR68115
PKP2#*Arrhythmogenic right ventricular dysplasiaAD150289
PLEKHM2Dilated cardiomyopathy (DCM), left ventricular noncompactionAR11
PLNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR830
PPCSDilated cardiomyopathy (DCM)AR4
PRDM16Left ventricular noncompaction, Dilated cardiomyopathy (DCM)AD1720
QRSL1Mitochondrial multisystemic disorderAR42
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RBCK1Polyglucosan body myopathyAR1114
RBM20Dilated cardiomyopathy (DCM)AD1947
RMND1*Combined oxidative phosphorylation deficiencyAR1715
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic234899
SPEGCentronuclear myopathy 5AR511
TAB2Congenital heart defects, multiple types, 2AD1331
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL45158
TBX20*Atrial septal defect 4AD428
TBX5Holt-Oram syndromeAD61127
TCAPMuscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR1228
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophyAD424
TNNC1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD924
TNNI3Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD/AR56129
TNNI3KCardiac conduction disease with or without dilated cardiomyopathyAD13
TNNT2Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD61148
TOR1AIP1Muscular dystrophy with progressive weakness, distal contractures and rigid spineAD/AR35
TPM1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD3498
TTN*Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type 2JAD818327
TTRDystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-relatedAD52148
VCLHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD830
VPS13AChoreoacanthocytosisAR19115
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC6*Pseudoxanthoma elasticumAR352377
ADAMTS2#Ehlers-Danlos syndromeAR811
ALDH18A1Spastic paraplegia, Cutis laxaAD/AR2230
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL116354
B4GALT7Ehlers-Danlos syndrome, progeroid formAR89
BGNSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeXL87
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
CHST14Ehlers-Danlos syndrome, musculocontracturalAR1521
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL3A1Ehlers-Danlos syndromeAD520631
COL5A1Ehlers-Danlos syndromeAD101154
COL5A2Ehlers-Danlos syndromeAD2435
DSE*Ehlers-Danlos syndrome, musculocontractural type 2AR43
EFEMP2Cutis laxaAR1416
ELNCutis laxa, Supravalvular aortic stenosisAD78113
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1322
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
FKBP14Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossAR56
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
PLOD1Ehlers-Danlos syndromeAR3041
PYCR1Cutis laxa AR type 2BAR1938
SLC39A13Spondylodysplastic Ehlers-Danlos syndromeAR29
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD4882
TGFB2Loeys-Dietz syndromeAD3638
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
ZNF469Brittle cornea syndromeAR3469
GeneAssociated phenotypesInheritanceClinVarHGMD
ACVRL1Hereditary hemorrhagic telangiectasiaAD140430
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
EPHB4Hydrops fetalis, nonimmune, and/or atrial septal defect, Capillary malformation-arteriovenous malformationAD151
GDF2Hereditary hemorrhagic telangiectasia, type 5, Pulmonary arterial hypertension (PAH)AD317
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
GeneAssociated phenotypesInheritanceClinVarHGMD
ACVR2BHeterotaxy, visceral, 4, autosomalAD12
ANKS6NephronophthisisAR912
ARMC4#*Ciliary dyskinesiaAR1817
C21ORF59Ciliary dyskinesiaAR54
CCDC103Ciliary dyskinesiaAR45
CCDC114Ciliary dyskinesiaAR98
CCDC151Ciliary dyskinesia, primary, 30AR72
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CFAP53Heterotaxy, visceral, 6, autosomal recessiveAR44
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAAF3Primary ciliary dyskinesiaAD/AR115
DNAAF5Ciliary dyskinesiaAR95
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
DYX1C1Ciliary dyskinesiaAR1512
FOXH1Congenital heart malformations, HoloprosencephalyAD33
GDF1Transposition of the great arteries, dextro-looped 3, Double-outlet right ventricleAR1115
INVSNephronophthisisAR1634
LEFTY2*Left-right axis malformationsAD13
LRRC6Ciliary dyskinesiaAR1019
MMP21Heterotaxy, visceral, 7AR418
NODALHeterotaxy, visceralAD415
PIH1D3Ciliary dyskinesia, primary, 36XL212
PITRM1AR2
PKD1L1Heterotaxy, visceral, 8, autosomalAR26
SPAG1Primary ciliary dyskinesiaAR1811
TTC25Ciliary dyskinesia, primary, 35AR22
ZIC3Heterotaxy, visceral, VACTERL association, Congenital heart defects, nonsyndromicXL1541
ZMYND10Ciliary dyskinesiaAR816
GeneAssociated phenotypesInheritanceClinVarHGMD
APOBHypobetalipoproteinemia, HypercholesterolemiaAD/AR69306
LDLRHypercholesterolemiaAD/AR17192180
LDLRAP1HypercholesterolemiaAR1023
PCSK9HypercholesterolemiaAD2989
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA1Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemiaAD/AR25218
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ALMS1*Alström syndromeAR197302
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2871
APOA5HyperchylomicronemiaAD/AR361
APOBHypobetalipoproteinemia, HypercholesterolemiaAD/AR69306
APOC2Hyperlipoproteinemia, type IbAR1322
APOC3Apolipoprotein C-III deficiencyAD68
APOESea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathyAD/AR3155
CREB3L3HypertriglyceridaemiaAD9
GPIHBP1Hyperlipoproteinemia, type IDAR1031
LDLRHypercholesterolemiaAD/AR17192180
LDLRAP1HypercholesterolemiaAR1023
LIPAWolman disease, Cholesterol ester storage diseaseAR2793
LMF1Combined lipase deficiencyAR414
LPLLipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familialAD/AR44209
PCSK9HypercholesterolemiaAD2989
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD2746
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2661
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR119282
ACTA1MyopathyAD/AR68212
ACTC1Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)AD2363
ACTN2Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD1144
AGK*Sengers syndrome, Cataract 38AR1827
AGLGlycogen storage diseaseAR142245
ALPK3Pediatric cardiomyopathyAR126
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2871
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD3962
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
COX15Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyAR75
CSRP3Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD430
ELAC2Combined oxidative phosphorylation deficiency 17AR1115
EPG5Vici syndromeAR3666
FBXL4Mitochondrial DNA depletion syndromeAR5547
FHL1*Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathyXL2662
FHOD3Cardiomyopathy, familial hypertrophicAD1
FLNC*MyopathyAD54109
FXN*Friedreich ataxiaAR1363
GAAGlycogen storage diseaseAR193573
GLAFabry diseaseXL226937
GSK3BHypertrophic cardiomyopathy, Dilated cardiomyopathy (DCM)2
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
JPH2Hypertrophic cardiomyopathy (HCM)AD313
KLHL24Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)AD/AR55
LAMP2Danon diseaseXL62101
MIPEP*Combined oxidative phosphorylation deficiency 31AR58
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYBPC3Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD4821048
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD305986
MYL2Hypertrophic cardiomyopathy (HCM), Infantile type I muscle fibre disease and cardiomyopathyAD2167
MYL3Hypertrophic cardiomyopathy (HCM)AD/AR1241
NDUFAF2Mitochondrial complex I deficiency, Leigh syndromeAR98
PLNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR830
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome, Glycogen storage disease of heart, lethal congenitalAD1957
PTPN11Noonan syndrome, MetachondromatosisAD135140
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RIT1Noonan syndromeAD2326
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1214
SOS1Noonan syndromeAD4471
TNNC1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD924
TNNI3Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD/AR56129
TNNT2Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD61148
TPM1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD3498
TTRDystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-relatedAD52148
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD2746
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD3962
CTNNA3Arrhythmogenic right ventricular dysplasiaAD746
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser typeAD/AR64124
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL8323915
DSC2Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasiaAD/AR3287
DSG2Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)AD44129
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
DTNALeft ventricular noncompaction 1AD37
EMDEmery-Dreifuss muscular dystrophyXL48113
FBXO32Dilated cardiomyopathy (DCM)AD/AR2
FLNC*MyopathyAD54109
HCN4Sick sinus syndrome, Brugada syndrome, Left ventricular non-compaction cardiomyopathy (LVNC)AD834
JPH2Hypertrophic cardiomyopathy (HCM)AD313
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR846
LAMP2Danon diseaseXL62101
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
MIPEP*Combined oxidative phosphorylation deficiency 31AR58
MYBPC3Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD4821048
MYH6Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Atrial septal defect 3AD14123
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD305986
PKP2#*Arrhythmogenic right ventricular dysplasiaAD150289
PLEKHM2Dilated cardiomyopathy (DCM), left ventricular noncompactionAR11
PLNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR830
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RBM20Dilated cardiomyopathy (DCM)AD1947
RYR2Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasiaAD124372
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic234899
TCAPMuscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR1228
TNNT2Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD61148
TPM1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD3498
TTN*Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type 2JAD818327
VCLHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD830
GeneAssociated phenotypesInheritanceClinVarHGMD
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
SCNN1GLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR820
GeneAssociated phenotypesInheritanceClinVarHGMD
AKAP9Long QT syndromeAD438
ANK2Cardiac arrhythmia, Long QT syndromeAD673
CACNA1C*Brugada syndrome, Timothy syndromeAD1968
CALM1*Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndromeAD1010
CALM2Long QT syndromeAD810
CALM3Catecholaminergic polymorphic ventricular tachycardiaAD/AR44
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2AD/AR2350
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndromeAD/AR/Digenic1146
KCNE2Long QT syndrome, Atrial fibrillation, familialAD524
KCNH2Short QT syndrome, Long QT syndromeAD371933
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
KCNJ5Long QT syndrome, Hyperaldosteronism, familialAD715
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic298631
NOS1APRomano-Ward syndromeAD/AR4
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic234899
TECRLVentricular tachycardia, catecholaminergic polymorphic, 3AR23
GeneAssociated phenotypesInheritanceClinVarHGMD
ABL1Congenital heart defects and skeletal malformations syndrome (CHDSKM)AD305
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTS17Weill-Marchesani-like syndromeAR67
ADAMTSL4Ectopia lentis, isolatedAR1127
B3GAT3#*Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsAR613
BGNSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeXL87
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL3A1Ehlers-Danlos syndromeAD520631
COL5A1Ehlers-Danlos syndromeAD101154
COL5A2Ehlers-Danlos syndromeAD2435
DLG4Mental retardation, with Marfanoid habitus, Autism710
EFEMP2Cutis laxaAR1416
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
LOXAortic aneurysm, familial thoracic 10AD67
MAT2A*Complement systemAD/AR2
MED12Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeXL2930
PLOD1Ehlers-Danlos syndromeAR3041
SKIShprintzen-Goldberg syndromeAD2023
SLC2A10Arterial tortuosity syndromeAR2334
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD4882
SMAD6Craniosynostosis 7AD538
TGFB2Loeys-Dietz syndromeAD3638
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD1926
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
UPF3BMental retardation, syndromicXL921
VCANWagner diseaseAD1119
ZDHHC9Mental retardation, syndromic, RaymondXL914
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CCNKIntellectual disabilityAD
CDC42*Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotypeAD119
EPHB4Hydrops fetalis, nonimmune, and/or atrial septal defect, Capillary malformation-arteriovenous malformationAD151
FGD1Aarskog-Scott syndrome, Mental retardation, syndromicXL2951
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
KAT6BOhdo syndrome, SBBYS variant, Genitopatellar syndromeAD4773
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MAP3K8Noonan syndromeAD1
MRASNoonan syndromeAD12
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NF2Schwannomatosis, NeurofibromatosisAD66433
NRASNoonan syndromeAD3114
NSUN2Dubowitz syndrome, Non-syndromic intellectual disabilityAD/AR87
PPP1CBNoonan syndrome-like disorder with loose anagen hair 2AD811
PTPN11Noonan syndrome, MetachondromatosisAD135140
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
RASA2Noonan syndromeAD13
RIT1Noonan syndromeAD2326
RRASNoonan-syndrome like phenotypeAD/AR2
SASH1Dyschromatosis universalis hereditariaAD112
SHOC2Noonan-like syndrome with loose anagen hairAD24
SMARCB1Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris syndrome 3AD36118
SOS1Noonan syndromeAD4471
SOS2Noonan syndrome 9AD46
SPRED1Legius syndromeAD3871
STAMBPMicrocephaly-capillary malformation syndromeAR1519
SYNGAP1Mental retardationAD10283
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
ACVRL1Hereditary hemorrhagic telangiectasiaAD140430
AQP1Pulmonary arterial hypertension (PAH)AD15
ATP13A3Pulmonary arterial hypertension (PAH)AD211
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
BMPR2Pulmonary hypertension, primary, Pulmonary venoocclusive diseaseAD391572
CAV1Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalized, Pulmonary hypertension, primary 3AD/AR711
EIF2AK4Pulmonary venoocclusive diseaseAR2784
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veinsAD10102
GDF2Hereditary hemorrhagic telangiectasia, type 5, Pulmonary arterial hypertension (PAH)AD317
KCNA5Atrial fibrillationAD425
KCNK3Pulmonary artery hypertensionAD722
KLF2Pulmonary arterial hypertension (PAH)AD1
NFU1Multiple mitochondrial dysfunctions syndrome 1AR615
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndromeAD87364
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR65
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMAD9Pulmonary hypertension, primary 2AD417
SOX17Pulmonary arterial hypertension (PAH)AD211
STRA6Microphthalmia, syndromic, Microphthalmia, isolated, with colobomaAR2233
TBX4Small patella syndromeAD858
GeneAssociated phenotypesInheritanceClinVarHGMD
CACNA1C*Brugada syndrome, Timothy syndromeAD1968
CACNB2Brugada syndromeAD422
KCNH2Short QT syndrome, Long QT syndromeAD371933
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic298631