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Diseases
Genes (230)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
KDM3B
Metal Toxicity
DDX58
Singleton Merten Syndrome
ABCB1
Multiple System Atrophy
FH
Fumarase Deficiency
OPRM1
Multiple System Atrophy
OPRD1
Multiple System Atrophy
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
FLNA
Intestinal Neuronal Dysplasia
NF1
Neurofibromatosis
NF2
Neurofibromatosis