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Diseases
Genes (980)
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ABHD5
Cerebral Creatine Deficiency
WRN
Werner Syndrome
MYO5B
Microvillus Inclusion Disease
BTK
Agammaglobulinemia, X-Linked
GAMT
Guanidinoacetate Methyltransferase Deficiency
MAGEL2
Schaaf-Yang Syndrome
SNRPN
Schaaf-Yang Syndrome
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PITX3
Anterior Segment Dysgenesis 1
MC2R
Familial Glucocorticoid Deficiency
PIGA
Paroxysmal Nocturnal Hemoglobinuria 1
NDN
Schaaf-Yang Syndrome
XDH
Hyperuricemia
FOXE3
Anterior Segment Dysgenesis 1
STX3
Microvillus Inclusion Disease
HPRT1
Hyperuricemia
Paroxysmal Nocturnal Hemoglobinuria 1
ABCG2
Hyperuricemia
SLC2A9
Hyperuricemia
CD59
Paroxysmal Nocturnal Hemoglobinuria 1
SRD5A2
Alopecia, Androgenetic, 1