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Diseases
Genes (251)
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ASL
Argininosuccinic Aciduria
MEFV
Familial Mediterranean Fever, Autosomal Dominant
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
SLC4A1
Ovalocytosis, Southeast Asian
SPINT2
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
PQBP1
Renpenning's Syndrome
SLC9A3
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
IFIH1
Singleton Merten Syndrome
PDZD7
Deafness, Autosomal Recessive 57
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
GUCY2C
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
DDX58
Singleton Merten Syndrome
KDM3B
Metal Toxicity
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
NLRP3
Familial Mediterranean Fever, Autosomal Dominant
NF1
Neurofibromatosis
NF2
Neurofibromatosis