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Diseases
Genes (540)
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ABHD5
Cerebral Creatine Deficiency
CYP4V2
Bietti's Crystalline Dystrophy
GAMT
Guanidinoacetate Methyltransferase Deficiency
FERMT1
Kindler Syndrome
SIX1
Branchiootorenal Syndrome 2
TTPA
Familial Isolated Vitamin E Deficiency
EYA1
Branchiootorenal Syndrome 2
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Perrault Syndrome 2
LARS2
Perrault Syndrome 2
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet-Biedl Syndrome 8
CLPP
Perrault Syndrome 2
MCOLN1
Mucolipidosis Iv
PQBP1
Renpenning's Syndrome
MKS1
Bardet-Biedl Syndrome 8
ASPM
Microcephaly 14, Primary, Autosomal Recessive
CAPN1
Spastic Paraplegia 76, Autosomal Recessive
CDK5RAP2
Microcephaly 14, Primary, Autosomal Recessive
BBS10
Bardet-Biedl Syndrome 8
DHTKD1
2-Aminoadipic 2-Oxoadipic Aciduria
UBA5
Epileptic Encephalopathy, Early Infantile, 44