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Diseases
Genes (459)
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ABHD5
Cerebral Creatine Deficiency
RAG2
Omenn Syndrome
MYO5B
Microvillus Inclusion Disease
HMBS
Acute Intermittent Porphyria
GAMT
Guanidinoacetate Methyltransferase Deficiency
RAG1
Omenn Syndrome
SLC20A2
Basal Ganglia Calcification, Idiopathic, 4
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PDGFRB
Cerebral Creatine Deficiency
Basal Ganglia Calcification, Idiopathic, 4
DCLRE1C
Omenn Syndrome
SERPIND1
Heparin Cofactor Ii Deficiency
GALE
Galactose Epimerase Deficiency
MC2R
Familial Glucocorticoid Deficiency
AGGF1
Klippel-Trenaunay-Weber Syndrome
CFH
Membranoproliferative Glomerulonephritis
HRAS
Phakomatosis Pigmentokeratotica
Membranoproliferative Glomerulonephritis
IL7R
Omenn Syndrome
PDGFB
Basal Ganglia Calcification, Idiopathic, 4
IL2RG
Omenn Syndrome
ADA
Omenn Syndrome