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Diseases
Genes (370)
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GJA1
Oculodentodigital Dysplasia
TTPA
Familial Isolated Vitamin E Deficiency
OPA3
Costeff Syndrome
PABPN1
Oculopharyngeal Muscular Dystrophy
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
TRNL1
Merrf Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
NRAS
Neurocutaneous Melanosis
ASS1
Citrullinemia Type I
CTNS
Cystinosis
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
TRNK
Merrf Syndrome