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Diseases
Genes (1053)
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ABHD5
Cerebral Creatine Deficiency
FBN2
Congenital Contractural Arachnodactyly
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
BRAF
Langerhans Cell Histiocytosis
Congenital Contractural Arachnodactyly
PQBP1
Renpenning's Syndrome
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
Aneurysm
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
MYLK
Aneurysm
Berdon Syndrome
ASS1
Congenital Contractural Arachnodactyly
Citrullinemia Type I
TSLP
Membranoproliferative Glomerulonephritis