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Diseases
Genes (840)
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ATRX
Oligodendroglioma
Alpha-Thalassemia Mental Retardation Syndrome
ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
MED12
Alpha-Thalassemia Mental Retardation Syndrome
Fg Syndrome
TGFBR2
Loeys–dietz Syndrome
Dural Arteriovenous Fistula
RHBDF2
Howel–evans Syndrome
TGFBR1
Loeys–dietz Syndrome
MC2R
Familial Glucocorticoid Deficiency
ACTG2
Berdon Syndrome
TRNL1
Merrf Syndrome
IDH2
Oligodendroglioma
Alpha-Thalassemia Mental Retardation Syndrome
WDR45
Neurodegeneration With Brain Iron Accumulation
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
DMPK
Myotonic Dystrophy
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
STX3
Microvillus Inclusion Disease