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Diseases
Genes (291)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
ABCC9
Cantú Syndrome
PQBP1
Renpenning's Syndrome
IFIH1
Singleton Merten Syndrome
KCNJ8
Cantú Syndrome
LIPA
Acid Lipase Disease
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
KDM3B
Metal Toxicity
DDX58
Singleton Merten Syndrome
FH
Fumarase Deficiency
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
ITM2B
Cerebral Amyloid Angiopathy
NDP
Vascular Tumor
Uterine Rupture
DICER1
Pinealoblastoma
PHOX2B
Pinealoblastoma
Hyperhidrosis
FOXP1
Hyperhidrosis
Vascular Malformation