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Diseases
Genes (1126)
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PTPN11
Metachondromatosis
Cardiofaciocutaneous Syndrome
CHM
Choroideremia
X-Linked Intellectual Disability
ABHD5
Cerebral Creatine Deficiency
PQBP1
X-Linked Intellectual Disability
Renpenning's Syndrome
TP53
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome
X-Linked Intellectual Disability
Myotonic Dystrophy
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
KRAS
Dandy-Walker Syndrome
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
RYR1
Malignant Hyperthermia
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
MYO5A
Griscelli Syndrome
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
RAB3GAP1
Warburg Micro Syndrome 3
GNAS
Progressive Osseous Heteroplasia
PTEN
Proteus-Like Syndrome
Li–fraumeni Syndrome
Marinesco–sjögren Syndrome