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Diseases
Genes (951)
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CHM
Choroideremia
BRAF
Vascular Malformation
Langerhans Cell Histiocytosis
Macrotia
Webbed Neck
PMM2
Pmm2 Deficiency
Macrotia
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
RYR1
Malignant Hyperthermia
LMNA
Limb–girdle Muscular Dystrophy
Macrotia
Webbed Neck
RAB3GAP1
Warburg Micro Syndrome 3
Macrotia
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
IRF6
Hypodontia
Van Der Woude Syndrome
PTEN
Vascular Malformation
Macrotia
Proteus-Like Syndrome
Benign Symmetric Lipomatosis
MYO5A
Griscelli Syndrome
PTPN11
Metachondromatosis
Webbed Neck
NF1
Watson Syndrome
Webbed Neck
GNAS
Progressive Osseous Heteroplasia
GRHL3
Van Der Woude Syndrome
RAB18
Warburg Micro Syndrome 3
Macrotia
RAB3GAP2
Warburg Micro Syndrome 3
Macrotia
BCHE
Malignant Hyperthermia
Butyrylcholinesterase Deficiency
RAC2
Neutrophil Immunodeficiency Syndrome