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Diseases
Genes (562)
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TBX5
Holt–oram Syndrome
Pectus Excavatum
TGFBR2
Uterine Rupture
Aneurysm
Loeys–dietz Syndrome
Dural Arteriovenous Fistula
Pectus Excavatum
LIPA
Lysosomal Acid Lipase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
TGFBR1
Uterine Rupture
Loeys–dietz Syndrome
Pectus Excavatum
PQBP1
Renpenning's Syndrome
Pectus Excavatum
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
TGFB2
Loeys–dietz Syndrome
Holt–oram Syndrome
ASS1
Citrullinemia Type I
SMAD3
Aneurysm
Loeys–dietz Syndrome
Pectus Excavatum
CTNS
Cystinosis
FAM155A
Diverticulitis
SMOC1
Klippel-Trenaunay-Weber Syndrome
Holt–oram Syndrome
RB1
Pinealoblastoma
Trilateral Retinoblastoma
FLNA
Pectus Excavatum
Intestinal Neuronal Dysplasia
SALL4
Holt–oram Syndrome
SOST
Klippel-Trenaunay-Weber Syndrome
Craniodiaphyseal Dysplasia
DDX58
Singleton Merten Syndrome