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Diseases
Genes (878)
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PTPN11
Metachondromatosis
Protein Losing Enteropathy
Cardiofaciocutaneous Syndrome
PQBP1
X-Linked Intellectual Disability
Renpenning's Syndrome
CHM
Choroideremia
X-Linked Intellectual Disability
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MAP2K1
Cardiofaciocutaneous Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
PTEN
Proteus-Like Syndrome
Thrombophlebitis
Marinesco–sjögren Syndrome
Protein Losing Enteropathy
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GNAS
Fibrous Dysplasia Of Bone
Progressive Osseous Heteroplasia
MYO5A
Griscelli Syndrome
RYR1
Malignant Hyperthermia
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
MEGF8
Carpenter Syndrome 1
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome
GORAB
Gerodermia Osteodysplastica
ALS2
Juvenile Primary Lateral Sclerosis