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Diseases
Genes (1075)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
FBN2
Congenital Contractural Arachnodactyly
SMAD4
Congenital Contractural Arachnodactyly
Juvenile Polyposis Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
BMPR1A
Juvenile Polyposis Syndrome
PQBP1
Renpenning's Syndrome
BRAF
Congenital Contractural Arachnodactyly
Langerhans Cell Histiocytosis
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
IDH1
Congenital Contractural Arachnodactyly
Ollier Disease
GALE
Galactose Epimerase Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
IDH2
Congenital Contractural Arachnodactyly
Ollier Disease
ACTG2
Congenital Contractural Arachnodactyly
Berdon Syndrome
CFH
Membranoproliferative Glomerulonephritis
MYH11
Juvenile Polyposis Syndrome
Aneurysm
Berdon Syndrome
ENG
Juvenile Polyposis Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome