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Diseases
Genes (672)
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GNAS
Progressive Osseous Heteroplasia
Heterotopic Ossification
PTEN
Proteus-Like Syndrome
Hibernoma
Sirenomelia
CHM
Choroideremia
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
RYR1
Malignant Hyperthermia
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
ALS2
Juvenile Primary Lateral Sclerosis
PTPN11
Metachondromatosis
ATXN3
Myotonic Dystrophy
Machado–joseph Disease
CHD3
Snijders Blok-Campeau Syndrome
NF1
Watson Syndrome
SLCO1B1
Hyperbilirubinemia, Rotor Type
LMNA
Limb–girdle Muscular Dystrophy
RAC2
Neutrophil Immunodeficiency Syndrome
NOTCH3
Cadasil
RAB18
Warburg Micro Syndrome 3