APC |
Adenomatous polyposis coli |
TGFBR1 |
Loeys-Dietz syndrome type 2A |
MYH11 |
Aortic aneurysm, familial thoracic 4 |
Aortic aneurysm, familial thoracic 4 |
Loeys-Dietz syndrome type 2 |
ACTA2 |
Aortic aneurysm, familial thoracic 6 |
SMAD3 |
Loeys-Dietz syndrome type 3 |
TMEM43 |
Arrhythmogenic right ventricular cardiomyopathy, type 5 |
KCNQ1 |
Long QT syndrome 1 |
DSP |
Arrhythmogenic right ventricular cardiomyopathy, type 8 |
KCNH2 |
Long QT syndrome 2 |
PKP2 |
Arrhythmogenic right ventricular cardiomyopathy, type 9 |
SCN5A |
Long QT syndrome 3 |
DSG2 |
Arrhythmogenic right ventricular cardiomyopathy, type 10 |
MLH1 |
Lynch syndrome |
DSC2 |
Arrhythmogenic right ventricular cardiomyopathy, type 11
|
MSH2 |
Lynch syndrome |
BRCA1 |
Breast-ovarian cancer, familial 1 |
MSH6 |
Lynch syndrome |
BRCA2 |
Breast-ovarian cancer, familial 2 |
PMS2 |
Lynch syndrome |
SCN5A |
Brugada syndrome 1 |
RYR1 |
Malignant hyperthermia |
RYR2 |
Catecholaminergic polymorphic ventricular tachycardia |
CACNA1S |
Malignant hyperthermia
|
LMNA |
Dilated cardiomyopathy 1A |
FBN1 |
Malignant hyperthermia |
MYBPC3 |
Dilated cardiomyopathy 1A |
TGFBR1 |
Marfan’s syndrome
|
COL3A1 |
Ehlers-Danlos syndrome, type 4 |
MEN1 |
Multiple endocrine neoplasia, type 1 |
GLA |
Fabry’s disease |
RET |
Multiple endocrine neoplasia, type 2a |
APOB |
Familial hypercholesterolemia |
RET |
Multiple endocrine neoplasia, type 2b |
LDLR |
Familial hypercholesterolemia |
MUTYH |
MYH-associated polyposis |
MYH7 |
Familial hypertrophic cardiomyopathy 1 |
NF2 |
Neurofibromatosis, type 2 |
TPM1 |
Familial hypertrophic cardiomyopathy 3 |
OTC |
Ornithine transcarbamylase deficiency |
MYBPC3 |
Familial hypertrophic cardiomyopathy 4 |
SDHD |
Paragangliomas 1 |
PRKAG2 |
Familial hypertrophic cardiomyopathy 6 |
SDHF2 |
Paragangliomas 2 |
TNNI3 |
Familial hypertrophic cardiomyopathy 7 |
SDHC |
Paragangliomas 3 |
MYL3 |
Familial hypertrophic cardiomyopathy 8 |
SDHB |
Paragangliomas 4 |
MYL2 |
Familial hypertrophic cardiomyopathy 10 |
STK11 |
Peutz-Jeghers syndrome |
ACTC1 |
Familial hypertrophic cardiomyopathy 11 |
MUTYH |
Pilomatrixoma |
RET |
Familial medullary thyroid carcinoma |
PTEN |
PTEN hamartoma tumor syndrome |
PCSK9 |
Hypercholesterolemia, autosomal dominant, 3 |
RB1 |
Retinoblastoma 0 |
BMPR1A |
Juvenile Polyposis |
TSC1 |
Tuberous sclerosis 1 |
SMAD4 |
Juvenile Polyposis |
TSC2 |
TSC2 |
TNNT2 |
Left ventricular noncompaction 6 |
VHL |
Von Hippel-Lindau syndrome |
TP53 |
Li-Fraumeni syndrome 1 |
ATP7B |
Wilson’s Disease
|
TGFBR1 |
Loeys-Dietz syndrome type 1A |
WT1 |
Wilms’ tumor |
TGFBR2 |
Loeys-Dietz syndrome type 1B |
|
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