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Diseases
Genes (642)
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CHM
Choroideremia
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
PMM2
Pmm2 Deficiency
RYR1
Malignant Hyperthermia
MYO5A
Griscelli Syndrome
SLC2A10
Hiatal Hernia
Arterial Tortuosity Syndrome
PTEN
Intussusception
Proteus-Like Syndrome
Marinesco–sjögren Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
MEGF8
Carpenter Syndrome 1
GNAS
Progressive Osseous Heteroplasia
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome
ALS2
Juvenile Primary Lateral Sclerosis
PTPN11
Metachondromatosis
RAB23
Carpenter Syndrome 1
NF1
Watson Syndrome
ZAP70
Zap70 Deficiency
RAC2
Neutrophil Immunodeficiency Syndrome