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Diseases
Genes (1012)
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ABHD5
Cerebral Creatine Deficiency
MYO5B
Microvillus Inclusion Disease
FBN2
Congenital Contractural Arachnodactyly
GAMT
Guanidinoacetate Methyltransferase Deficiency
BRAF
Langerhans Cell Histiocytosis
Congenital Contractural Arachnodactyly
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
GALE
Galactose Epimerase Deficiency
IFIH1
Hepatitis E
Singleton Merten Syndrome
MC2R
Familial Glucocorticoid Deficiency
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
MRAP
Familial Glucocorticoid Deficiency