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Diseases
Genes (662)
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PTPN11
Metachondromatosis
Cardiofaciocutaneous Syndrome
CHM
Choroideremia
ABHD5
Cerebral Creatine Deficiency
TP53
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MAP2K1
Cardiofaciocutaneous Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
RAB3GAP1
Warburg Micro Syndrome 3
MEGF8
Carpenter Syndrome 1
GNAS
Progressive Osseous Heteroplasia
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome
ALS2
Juvenile Primary Lateral Sclerosis