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Diseases
Genes (379)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
Alpha-Thalassemia
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
PRPS1
Arts Syndrome
HBA1
Alpha-Thalassemia
HBA2
Alpha-Thalassemia
FAM20A
Enamel-Renal Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
UBA1
X-Linked Spinal Muscular Atrophy Type 2
NFU1
Multiple Mitochondrial Dysfunctions Syndrome
IFIH1
Singleton Merten Syndrome
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
GLRB
Hyperekplexia
ASS1
Citrullinemia Type I
SLC6A5
Hyperekplexia
HBB
Alpha-Thalassemia
GLRX5
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
SLC25A38
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
RB1
Pinealoblastoma
Trilateral Retinoblastoma