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Diseases
Genes (845)
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PTPN11
Metachondromatosis
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
ASL
Argininosuccinic Aciduria
MAP2K1
Cardiofaciocutaneous Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
RYR1
Malignant Hyperthermia
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
PMM2
Pmm2 Deficiency
MYO5A
Griscelli Syndrome
RAB18
Warburg Micro Syndrome 3
Goldenhar Syndrome
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
RAB27A
Choroideremia
Limb–girdle Muscular Dystrophy
Griscelli Syndrome Type 2
MEGF8
Carpenter Syndrome 1
GNAS
Progressive Osseous Heteroplasia