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Diseases
Genes (510)
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BRAF
Hippocampal Sclerosis
Cardiofaciocutaneous Syndrome
Legius Syndrome
MAP2K1
Cardiofaciocutaneous Syndrome
ABHD5
Cerebral Creatine Deficiency
CTSD
Harlequin Ichthyosis
Cln10 Disease
ABCA12
Harlequin Ichthyosis
HPS1
Hermansky-Pudlak Syndrome With Pulmonary Fibrosis
KRAS
Cardiofaciocutaneous Syndrome
MAP2K2
Cardiofaciocutaneous Syndrome
SPRED1
Legius Syndrome
GDAP1
Charcot-Marie-Tooth Disease Type 4a
CA5A
Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
COL2A1
Legg-Calve-Perthes Disease
FXYD2
Hypomagnesemia 2, Renal
RAD50
Nijmegen Breakage Syndrome-Like Disorder
CTCF
Mental Retardation, Autosomal Dominant 21
LEMD2
Cataract 46, Juvenile-Onset
ZBTB42
Lethal Congenital Contracture Syndrome 6
GPNMB
Amyloidosis, Primary Localized Cutaneous, 3
HRAS
Cardiofaciocutaneous Syndrome
PTPN11
Cardiofaciocutaneous Syndrome