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Diseases
Genes (917)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
MYO5B
Microvillus Inclusion Disease
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
BRAF
Langerhans Cell Histiocytosis
Congenital Contractural Arachnodactyly
GNAS
Mccune-Albright Syndrome
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
DNAJB1
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
PRKACA
Fibrolamellar Hepatocellular Carcinoma