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Diseases
Genes (286)
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MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
SLC20A2
Basal Ganglia Calcification, Idiopathic, 4
PDGFRB
Basal Ganglia Calcification, Idiopathic, 4
SERPIND1
Heparin Cofactor Ii Deficiency
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
HRAS
Phakomatosis Pigmentokeratotica
STX3
Microvillus Inclusion Disease
CD55
Protein Losing Enteropathy
PDGFB
Basal Ganglia Calcification, Idiopathic, 4
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
CILP
Lumbar Disc Disease
STAR
Adrenal Crisis
Familial Glucocorticoid Deficiency
COL9A3
Lumbar Disc Disease
SART3
Disseminated Superficial Actinic Porokeratosis
DDX58
Singleton Merten Syndrome