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Diseases
Genes (713)
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PTPN11
Metachondromatosis
Cardiofaciocutaneous Syndrome
CHM
Choroideremia
X-Linked Intellectual Disability
PQBP1
X-Linked Intellectual Disability
Renpenning's Syndrome
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
PMM2
Pmm2 Deficiency
ASL
Argininosuccinic Aciduria
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
RAB18
Warburg Micro Syndrome 3
Goldenhar Syndrome
RAB3GAP1
Warburg Micro Syndrome 3
KRAS
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
GNAS
Progressive Osseous Heteroplasia
RAB27A
Choroideremia
Limb–girdle Muscular Dystrophy
Griscelli Syndrome Type 2
MEGF8
Carpenter Syndrome 1
SIL1
Polycystic Liver Disease
Marinesco–sjögren Syndrome