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Diseases
Genes (959)
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PTPN11
Metachondromatosis
Cardiofaciocutaneous Syndrome
CHM
Choroideremia
X-Linked Intellectual Disability
ABHD5
Cerebral Creatine Deficiency
TP53
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome
X-Linked Intellectual Disability
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
MAP2K1
Cardiofaciocutaneous Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
MYO5A
Griscelli Syndrome
RYR1
Malignant Hyperthermia
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
GNAS
Progressive Osseous Heteroplasia
MEGF8
Carpenter Syndrome 1
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome