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Diseases
Genes (915)
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ARID1B
Coffin–siris Syndrome
FBN2
Congenital Contractural Arachnodactyly
TTPA
Familial Isolated Vitamin E Deficiency
ARID1A
Coffin–siris Syndrome
Congenital Contractural Arachnodactyly
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Congenital Contractural Arachnodactyly
GALE
Galactose Epimerase Deficiency
SMARCE1
Coffin–siris Syndrome
SOX11
Coffin–siris Syndrome
IFIH1
Singleton Merten Syndrome
AVP
Diabetes Insipidus
CFH
Membranoproliferative Glomerulonephritis
SMARCB1
Coffin–siris Syndrome
Pinealoblastoma
SMARCA4
Coffin–siris Syndrome
Vascular Tumor
SMARCA1
Coffin–siris Syndrome
SMARCA2
Coffin–siris Syndrome
TSLP
Membranoproliferative Glomerulonephritis
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis