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Diseases
Genes (967)
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CHM
Choroideremia
ABHD5
Cerebral Creatine Deficiency
TGFBR2
Uterine Rupture
Abdominal Aortic Aneurysm
Aneurysm
Loeys–dietz Syndrome
TP53
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
Abdominal Aortic Aneurysm
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
TGFBR1
Uterine Rupture
Alopecia, Androgenetic, 1
Abdominal Aortic Aneurysm
Loeys–dietz Syndrome
RYR1
Malignant Hyperthermia
GAMT
Guanidinoacetate Methyltransferase Deficiency
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
NF1
Li–fraumeni Syndrome
Abdominal Aortic Aneurysm
Watson Syndrome
Aneurysm
RAB3GAP1
Warburg Micro Syndrome 3
GNAS
Progressive Osseous Heteroplasia
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
Abdominal Aortic Aneurysm
ALS2
Juvenile Primary Lateral Sclerosis
PTPN11
Metachondromatosis
RAC2
Neutrophil Immunodeficiency Syndrome
CHEK2
Li–fraumeni Syndrome
NOTCH3
Abdominal Aortic Aneurysm
Cadasil
RAB18
Warburg Micro Syndrome 3