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Diseases
Genes (500)
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TTPA
Familial Isolated Vitamin E Deficiency
CPT1A
Carnitine Palmitoyltransferase I Deficiency
SIX1
Branchio-Oto-Renal Syndrome
IRF6
Van Der Woude Syndrome
ABCC9
Cantú Syndrome
SLC2A10
Arterial Tortuosity Syndrome
EYA1
Branchio-Oto-Renal Syndrome
PQBP1
Renpenning's Syndrome
GRHL3
Van Der Woude Syndrome
FGFR2
Jackson–weiss Syndrome
FGFR1
Jackson–weiss Syndrome
IFIH1
Singleton Merten Syndrome
KCNJ8
Cantú Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
Vascular Malformation
PLAT
Cardiac Tamponade
Angioedema
OFD1
Orofaciodigital Syndrome 1
SIX5
Branchio-Oto-Renal Syndrome
HLA-DRB1
Giant Cell Arteritis
Endocrine Disease
Angioedema
TMEM107
Orofaciodigital Syndrome 1
RB1
Pinealoblastoma
Trilateral Retinoblastoma