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Diseases
Genes (978)
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ABHD5
Cerebral Creatine Deficiency
MYO5B
Microvillus Inclusion Disease
FBN2
Congenital Contractural Arachnodactyly
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
BRAF
Langerhans Cell Histiocytosis
Congenital Contractural Arachnodactyly
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
GALE
Galactose Epimerase Deficiency
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
CFH
Membranoproliferative Glomerulonephritis
STX3
Microvillus Inclusion Disease
TSLP
Membranoproliferative Glomerulonephritis
Lumbar Disc Disease
CTNS
Cystinosis
SLC4A4
Proximal Renal Tubular Acidosis
SRD5A2
Alopecia, Androgenetic, 1
AR
Alopecia, Androgenetic, 1
Langerhans Cell Histiocytosis
VDR
Alopecia, Androgenetic, 1
Lumbar Disc Disease
Congenital Contractural Arachnodactyly
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma