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Diseases
Genes (744)
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SALL4
Duane-Radial Ray Syndrome
GJA1
Oculodentodigital Dysplasia
COL6A1
Bethlem Myopathy
FMR1
Disinhibition
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Fg Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
MMUT
Methylmalonyl-Coa Mutase Deficiency
SLC17A5
Salla Disease
COL6A3
Bethlem Myopathy
COL6A2
Bethlem Myopathy
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
RECQL4
Baller–gerold Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
PDGFRB
Primary Familial Brain Calcification
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Aneurysm Of Sinus Of Valsalva
Fg Syndrome
COL12A1
Bethlem Myopathy
PDGFB
Callosity
Primary Familial Brain Calcification