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Diseases
Genes (1573)
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GJA1
Adenoid Cystic Carcinoma
Oculodentodigital Dysplasia
Heart Arrhythmia
TTPA
Familial Isolated Vitamin E Deficiency
Heart Arrhythmia
CPT1A
Carnitine Palmitoyltransferase I Deficiency
Heart Arrhythmia
FBN2
Congenital Contractural Arachnodactyly
PABPN1
Oculopharyngeal Muscular Dystrophy
SLC17A5
Salla Disease
PQBP1
Renpenning's Syndrome
UMOD
Medullary Cystic Kidney Disease
TAF1
Dystonia 3, Torsion, X-Linked
RECQL4
Baller–gerold Syndrome
NGLY1
Ngly1 Deficiency
TRNL1
Merrf Syndrome
Heart Arrhythmia
ACTG2
Berdon Syndrome
Heart Arrhythmia
Congenital Contractural Arachnodactyly
IFIH1
Singleton Merten Syndrome
PIK3CA
Salla Disease
Adenoid Cystic Carcinoma
Heart Arrhythmia
Congenital Contractural Arachnodactyly
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
TP53
Adenoid Cystic Carcinoma
Fibrolamellar Hepatocellular Carcinoma
Congenital Contractural Arachnodactyly
SEC23B
Congenital Dyserythropoietic Anemia
CD55
Protein Losing Enteropathy