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Diseases
Genes (406)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
SALL4
Duane-Radial Ray Syndrome
GJA1
Oculodentodigital Dysplasia
COL6A1
Bethlem Myopathy
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
MMUT
Methylmalonyl-Coa Mutase Deficiency
SLC17A5
Salla Disease
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
COL6A3
Bethlem Myopathy
COL6A2
Bethlem Myopathy
RECQL4
Baller–gerold Syndrome
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
COL12A1
Bethlem Myopathy
STX3
Microvillus Inclusion Disease
MEN1
Glucagonoma
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency