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Diseases
Genes (987)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
Oligodendroglioma
HOXD13
Synpolydactyly 1
POLG
Balo Concentric Sclerosis
MAFB
Multicentric Carpotarsal Osteolysis Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
TGFBR2
Loeys–dietz Syndrome
Dural Arteriovenous Fistula
KRT81
Monilethrix
KRT83
Monilethrix
UBA1
X-Linked Spinal Muscular Atrophy Type 2
RHBDF2
Howel–evans Syndrome
TGFBR1
Loeys–dietz Syndrome
KRT86
Monilethrix
ACTG2
Berdon Syndrome
CRH
Epilepsy, Nocturnal Frontal Lobe, 1
Epileptic Encephalopathy, Early Infantile, 27
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
IDH2
Alpha-Thalassemia Mental Retardation Syndrome
Oligodendroglioma
CDKL5
Craniodiaphyseal Dysplasia
Epileptic Encephalopathy, Early Infantile, 27
MAPT
Tauopathy
CD55
Protein Losing Enteropathy
ASS1
Citrullinemia Type I