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Diseases
Genes (1301)
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RB1
Pinealoblastoma
Trilateral Retinoblastoma
Retinoblastoma
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
F12
Factor Xii Deficiency
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
UMOD
Medullary Cystic Kidney Disease
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
TRNL1
Merrf Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome