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Diseases
Genes (1039)
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PTPN11
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Metachondromatosis
Cardiofaciocutaneous Syndrome
TP53
Alopecia, Androgenetic, 1
Li–fraumeni Syndrome
Myotonic Dystrophy
Marinesco–sjögren Syndrome
X-Linked Intellectual Disability
CHM
Choroideremia
X-Linked Intellectual Disability
ABHD5
Cerebral Creatine Deficiency
MAP2K2
Watson Syndrome
Cardiofaciocutaneous Syndrome
BRAF
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
KRAS
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Marinesco–sjögren Syndrome
Cardiofaciocutaneous Syndrome
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ARID1B
Coffin-Siris Syndrome 2
MAP2K1
Cardiofaciocutaneous Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
ATR
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Coffin-Siris Syndrome 2
X-Linked Intellectual Disability
RYR1
Malignant Hyperthermia
GORAB
Alopecia, Androgenetic, 1
Gerodermia Osteodysplastica
FLVCR1
Posterior Column Ataxia With Retinitis Pigmentosa
RAB3GAP1
Warburg Micro Syndrome 3
MEGF8
Carpenter Syndrome 1