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Diseases
Genes (550)
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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
COL2A1
Collagen, Type Ii, Alpha-1
Pectus Excavatum
TGFBR1
Diverticulum
Uterine Rupture
Loeys–dietz Syndrome
Pectus Excavatum
PQBP1
Renpenning's Syndrome
Pectus Excavatum
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
TGFB2
Loeys–dietz Syndrome
Holt–oram Syndrome
PAH
Phenylketonuria
ASS1
Citrullinemia Type I
SMAD3
Aneurysm
Loeys–dietz Syndrome
Pectus Excavatum
FAM155A
Diverticulitis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
NF1
Aneurysm
Pectus Excavatum
Neurofibromatosis
FLNA
Pectus Excavatum
Intestinal Neuronal Dysplasia
SALL4
Holt–oram Syndrome
DDX58
Singleton Merten Syndrome
MMP1
Aneurysm
Diverticulitis