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Diseases
Genes (879)
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FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
TMC6
Epidermodysplasia Verruciformis
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
TMC8
Epidermodysplasia Verruciformis
ASS1
Congenital Contractural Arachnodactyly
Citrullinemia Type I
TSLP
Membranoproliferative Glomerulonephritis
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma
PRKACA
Fibrolamellar Hepatocellular Carcinoma
SOST
Craniodiaphyseal Dysplasia