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Diseases
Genes (1620)
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HBB
Beta-Thalassemia
Beta-Thalassemia Intermedia
Hemoglobin E-Beta-Thalassemia Syndrome
Beta-Thalassemia Major
TP53
Li–fraumeni Syndrome
Alopecia, Androgenetic, 1
Marinesco–sjögren Syndrome
Leukemia, Chronic Lymphocytic, Susceptibility To, 4
Myotonic Dystrophy
GALE
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
GALT
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
CHM
Choroideremia
ABHD5
Cerebral Creatine Deficiency
GNAS
Pseudopseudohypoparathyroidism
Meconium Aspiration Syndrome
DMD
Duchenne Muscular Dystrophy
Myotonic Dystrophy
Galactose-1-Phosphate Uridylyltransferase Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
HBA2
Beta-Thalassemia
Beta-Thalassemia Intermedia
Hemoglobin E-Beta-Thalassemia Syndrome
Beta-Thalassemia Major
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
HAMP
Beta-Thalassemia
Beta-Thalassemia Intermedia
Hemoglobin E-Beta-Thalassemia Syndrome
Beta-Thalassemia Major
Leprosy
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
GRHPR
D-Glycerate Dehydrogenase Deficiency
F5
Beta-Thalassemia
Beta-Thalassemia Intermedia
Beta-Thalassemia Major
Congenital Factor V Deficiency
Myotonic Dystrophy
Neurodegeneration With Brain Iron Accumulation
SIL1
Marinesco–sjögren Syndrome
ATR
Seckel Syndrome
NOTCH3
Cadasil
Migraine With Or Without Aura, Susceptibility To, 1
RAB3GAP1
Warburg Micro Syndrome 3