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Diseases
Genes (863)
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ABHD5
Cerebral Creatine Deficiency
SCN5A
Cardiac Conduction Defect
GAMT
Guanidinoacetate Methyltransferase Deficiency
Malnutrition
SH2D1A
X-Linked Lymphoproliferative Disease
L2HGDH
L-2-Hydroxyglutaric Aciduria
DIS3L2
Perlman Syndrome
PEX1
Malnutrition
Peroxisome Biogenesis Disorder 10a (Zellweger)
FKRP
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
SPRTN
Ruijs-Aalfs Syndrome
GLUL
Glutamine Deficiency, Congenital
POMGNT1
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
GALE
Galactose Epimerase Deficiency
FLVCR2
Fowler's Syndrome
CENPF
Stromme Syndrome
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
FKTN
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
MTHFR
Alopecia, Androgenetic, 1
Malnutrition
CRPPA
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
TMEM67
Meckel Syndrome, Type 8