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Diseases
Genes (949)
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FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Congenital Contractural Arachnodactyly
FAM20A
Enamel-Renal Syndrome
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
CFH
Membranoproliferative Glomerulonephritis
ASS1
Congenital Contractural Arachnodactyly
Citrullinemia Type I
PDGFB
Callosity
Primary Familial Brain Calcification
TSLP
Membranoproliferative Glomerulonephritis
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma
PRKACA
Fibrolamellar Hepatocellular Carcinoma
SOST
Callosity
Craniodiaphyseal Dysplasia
ALB
Membranoproliferative Glomerulonephritis
Congenital Contractural Arachnodactyly
Disinhibition
DDX58
Singleton Merten Syndrome