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Diseases
Genes (452)
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TTPA
Familial Isolated Vitamin E Deficiency
POLG
Balo Concentric Sclerosis
Merrf Syndrome
F12
Factor Xii Deficiency
FMR1
Renpenning's Syndrome
Fg Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
PMM2
Pmm2 Deficiency
UMOD
Medullary Cystic Kidney Disease
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome