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Diseases
Genes (913)
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PMM2
Pmm2 Deficiency
Kidney Cysts
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
SCN1A
Dravet Syndrome
PTEN
Vascular Malformation
Dural Arteriovenous Fistula
Bone Cyst
Kidney Cysts
Silicosis
Endometrial Hyperplasia
MED12
Fg Syndrome
RECQL4
Baller–gerold Syndrome
PQBP1
Renpenning's Syndrome
CYP21A2
21-Hydroxylase Deficiency
SI
Congenital Sucrase-Isomaltase Deficiency
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
CPA6
Febrile Seizures, Familial, 11
IL1B
Merrf Syndrome
Renpenning's Syndrome
Silicosis
Tourette Syndrome
SLITRK1
Tourette Syndrome
TRNL1
Merrf Syndrome
HDC
Tourette Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
FLNA
Vascular Malformation
Fg Syndrome
Intestinal Neuronal Dysplasia