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Diseases
Genes (819)
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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
MEFV
Familial Mediterranean Fever, Autosomal Dominant
MAP2K1
Cardiofaciocutaneous Syndrome
PMM2
Pmm2 Deficiency
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
RYR1
Malignant Hyperthermia
SLC4A1
Ovalocytosis, Southeast Asian
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
SPINT2
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
GNAS
Progressive Osseous Heteroplasia
MEGF8
Carpenter Syndrome 1
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome