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Diseases
Genes (1066)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
SIX1
Branchio-Oto-Renal Syndrome
PABPN1
Oculopharyngeal Muscular Dystrophy
ABCC9
Cantú Syndrome
Hippocampal Sclerosis
COL2A1
Collagen, Type Ii, Alpha-1
SLC2A10
Arterial Tortuosity Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
EYA1
Branchio-Oto-Renal Syndrome
UMOD
Medullary Cystic Kidney Disease
FGFR2
Jackson–weiss Syndrome
FGFR1
Jackson–weiss Syndrome
KCNJ8
Cantú Syndrome
IFIH1
Malaria, Susceptibility To
Singleton Merten Syndrome
PAH
Phenylketonuria
IFNG
Cerebral Creatine Deficiency
Type Iii Hypersensitivity
Malaria, Susceptibility To
G6PD
Phenylketonuria
Malaria, Susceptibility To
ICAM1
Malaria, Susceptibility To
SIX5
Branchio-Oto-Renal Syndrome
FCGR2B
Malaria, Susceptibility To