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Diseases
Genes (767)
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CHM
Choroideremia
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
STK11
Peutz–jeghers Syndrome
PMM2
Pmm2 Deficiency
RYR1
Malignant Hyperthermia
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
RAB18
Goldenhar Syndrome
Warburg Micro Syndrome 3
FAM20A
Enamel-Renal Syndrome
VPS13B
Hemophagocytic Lymphohistiocytosis
Cohen Syndrome
PTPN11
Metachondromatosis
PTEN
Proteus-Like Syndrome
Peutz–jeghers Syndrome
Marinesco–sjögren Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
GNAS
Progressive Osseous Heteroplasia
Peutz–jeghers Syndrome
MEGF8
Carpenter Syndrome 1
TTN
Limb–girdle Muscular Dystrophy
Laing Distal Myopathy
MYH7
Laing Distal Myopathy
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome