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Diseases
Genes (609)
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ABHD5
Cerebral Creatine Deficiency
MYO5B
Microvillus Inclusion Disease
GAMT
Guanidinoacetate Methyltransferase Deficiency
NKX2-5
Hypoplastic Left Heart Syndrome 1
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PITX3
Anterior Segment Dysgenesis 1
CASR
Familial Hypocalciuric Hypercalcemia
GJA1
Hippocampal Sclerosis
Hypoplastic Left Heart Syndrome 1
MC2R
Familial Glucocorticoid Deficiency
XDH
Hyperuricemia
STX3
Microvillus Inclusion Disease
FOXE3
Anterior Segment Dysgenesis 1
HPRT1
Hyperuricemia
ABCG2
Hyperuricemia
SLC2A9
Hyperuricemia
SAP130
Hypoplastic Left Heart Syndrome 1
SRD5A2
Alopecia, Androgenetic, 1
ALB
Hyperuricemia
Analbuminemia
Hippocampal Sclerosis
AR
Alopecia, Androgenetic, 1
Hyperuricemia
PXDN
Anterior Segment Dysgenesis 1