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Diseases
Genes (1987)
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SCN5A
Brugada Syndrome 2
Cardiomyopathy, Dilated, 1d
GLE1
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Lethal Congenital Contracture Syndrome 1
TTN
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Limb–girdle Muscular Dystrophy
Cardiomyopathy, Dilated, 1d
PON1
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Membranoproliferative Glomerulonephritis
ACADM
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
AIRE
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
DES
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Lateral Meningocele Syndrome
Limb–girdle Muscular Dystrophy
Cardiomyopathy, Dilated, 1d
LMNA
Limb–girdle Muscular Dystrophy
Cardiomyopathy, Dilated, 1d
HSD17B4
D-Bifunctional Protein Deficiency
PTH
Hypoparathyroidism, X-Linked
Primary Familial Brain Calcification
Cystinosis
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
C9orf72
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
SOD1
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
ABCC9
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Brugada Syndrome 2
Cardiomyopathy, Dilated, 1d
SCN10A
Brugada Syndrome 2
TPP1
Ceroid Lipofuscinosis, Neuronal, 6
LIPA
Lysosomal Acid Lipase Deficiency
RBM10
Tarp Syndrome
TP53
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Lateral Meningocele Syndrome
Mesothelioma, Malignant
Fibrolamellar Hepatocellular Carcinoma
SLC20A2
Primary Familial Brain Calcification
Mesothelioma, Malignant
ATXN2
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Brugada Syndrome 2