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Diseases
Genes (1033)
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RB1
Pinealoblastoma
Retinoblastoma
Trilateral Retinoblastoma
MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
GDAP1
Charcot-Marie-Tooth Disease, Type 4a
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
CD55
Protein Losing Enteropathy
STX3
Microvillus Inclusion Disease
MRAP
Familial Glucocorticoid Deficiency
MDM4
Retinoblastoma
CILP
Lumbar Disc Disease
STAR
Adrenal Crisis
Familial Glucocorticoid Deficiency
COL9A3
Lumbar Disc Disease
DDX58
Singleton Merten Syndrome
SART3
Disseminated Superficial Actinic Porokeratosis
ASPN
Lumbar Disc Disease
BCOR
Retinoblastoma
PTEN
Thrombophlebitis
Retinoblastoma
Lumbar Disc Disease
Protein Losing Enteropathy