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Diseases
Genes (646)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
MYO5B
Microvillus Inclusion Disease
CYP4V2
Bietti's Crystalline Dystrophy
SALL4
Duane-Radial Ray Syndrome
NLRP3
Alopecia, Androgenetic, 1
Muckle–wells Syndrome
SLC17A5
Salla Disease
ND5
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
ND1
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
ACTG2
Berdon Syndrome
ND6
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
TRNS1
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
TRNW
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
TRNF
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
TRNQ
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
COX1
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
STX3
Microvillus Inclusion Disease
COX2
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes