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Diseases
Genes (180)
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TTPA
Familial Isolated Vitamin E Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
CLCN1
Myotonia Congenita, Autosomal Recessive
SLC4A1
Southeast Asian Ovalocytosis
GBA
Gaucher Disease, Type Iii
PQBP1
Renpenning's Syndrome
IFIH1
Singleton Merten Syndrome
PRNP
Akinetic Mutism
Kuru (Disease)
SRD5A2
5α-Reductase Deficiency
PAH
Phenylketonuria
RB1
Pinealoblastoma
Trilateral Retinoblastoma
AP3D1
Albinism
TYR
Albinism
SCN4A
Myotonia Congenita, Autosomal Recessive
DDX58
Singleton Merten Syndrome
MITF
Albinism
SNCA
Gaucher Disease, Type Iii
CHIT1
Gaucher Disease, Type Iii
ACE
Gaucher Disease, Type Iii
LYST
Albinism