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Diseases
Genes (558)
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ABHD5
Cerebral Creatine Deficiency
CYP4V2
Bietti's Crystalline Dystrophy
GAMT
Guanidinoacetate Methyltransferase Deficiency
FERMT1
Kindler Syndrome
SIX1
Branchiootorenal Syndrome 2
EYA1
Branchiootorenal Syndrome 2
COL11A2
Weissenbacher-Zweymüller Syndrome
LARS2
Perrault Syndrome 2
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Perrault Syndrome 2
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet-Biedl Syndrome 8
CLPP
Perrault Syndrome 2
MKS1
Bardet-Biedl Syndrome 8
SHOC2
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
ASPM
Microcephaly 14, Primary, Autosomal Recessive
CAPN1
Spastic Paraplegia 76, Autosomal Recessive
CDK5RAP2
Microcephaly 14, Primary, Autosomal Recessive
BBS10
Bardet-Biedl Syndrome 8
CDC42
Takenouchi-Kosaki Syndrome
UBE2A
Mental Retardation, X-Linked, Syndromic, Nascimento Type
SDCCAG8
Bardet-Biedl Syndrome 8