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Diseases
Genes (665)
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PTPN11
Metachondromatosis
Cardiofaciocutaneous Syndrome
CHM
Choroideremia
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
RYR1
Malignant Hyperthermia
MAP2K1
Cardiofaciocutaneous Syndrome
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
PMM2
Pmm2 Deficiency
MYO5A
Griscelli Syndrome
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
MEGF8
Carpenter Syndrome 1
GNAS
Progressive Osseous Heteroplasia
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome
PTEN
Proteus-Like Syndrome
Marinesco–sjögren Syndrome
GORAB
Gerodermia Osteodysplastica
ALS2
Juvenile Primary Lateral Sclerosis