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Diseases
Genes (624)
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ABHD5
Cerebral Creatine Deficiency
SCN5A
Cardiac Conduction Defect
GAMT
Guanidinoacetate Methyltransferase Deficiency
SH2D1A
X-Linked Lymphoproliferative Disease
L2HGDH
L-2-Hydroxyglutaric Aciduria
DIS3L2
Perlman Syndrome
PEX1
Peroxisome Biogenesis Disorder 10a (Zellweger)
FKRP
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
GLUL
Glutamine Deficiency, Congenital
POMGNT1
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
GALE
Galactose Epimerase Deficiency
POMT1
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
DAG1
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
IL1B
Silicosis
Alopecia, Androgenetic, 1
X-Linked Lymphoproliferative Disease
Membranoproliferative Glomerulonephritis
Cystinosis
Toxoplasmosis
FKTN
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
CRPPA
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
TMEM67
Meckel Syndrome, Type 8
EXOSC2
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
CFH
Membranoproliferative Glomerulonephritis
CCL2
Silicosis
Membranoproliferative Glomerulonephritis
Cystinosis
Q Fever
Toxoplasmosis