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Diseases
Genes (361)
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Download Gene List
ASL
Argininosuccinic Aciduria
SCN5A
Cardiac Conduction Defect
SH2D1A
X-Linked Lymphoproliferative Disease
L2HGDH
L-2-Hydroxyglutaric Aciduria
PMM2
Pmm2 Deficiency
BRAF
Langerhans Cell Histiocytosis
PEX1
Peroxisome Biogenesis Disorder 10a (Zellweger)
TPP1
Ceroid Lipofuscinosis, Neuronal, 10
CLN6
Ceroid Lipofuscinosis, Neuronal, 10
CLN3
Ceroid Lipofuscinosis, Neuronal, 10
EXOSC2
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
CFH
Membranoproliferative Glomerulonephritis
ATPAF2
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
IL17A
X-Linked Lymphoproliferative Disease
Langerhans Cell Histiocytosis
PEX3
Peroxisome Biogenesis Disorder 10a (Zellweger)
PEX6
Peroxisome Biogenesis Disorder 10a (Zellweger)
PEX16
Peroxisome Biogenesis Disorder 10a (Zellweger)
PEX2
Peroxisome Biogenesis Disorder 10a (Zellweger)
PEX12
Peroxisome Biogenesis Disorder 10a (Zellweger)
PEX14
Peroxisome Biogenesis Disorder 10a (Zellweger)