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Diseases
Genes (483)
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AGL
Glycogen Storage Disease Iii
CPT1A
Carnitine Palmitoyltransferase I Deficiency
TFAP2A
Branchiooculofacial Syndrome
PQBP1
Renpenning's Syndrome
NGLY1
Ngly1 Deficiency
GNAQ
Sturge–weber Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
PDGFB
Callosity
Primary Familial Brain Calcification
Liver Injury
EDN1
Auriculocondylar Syndrome 3
Normal Tension Glaucoma
Sturge–weber Syndrome
GNAI3
Auriculocondylar Syndrome 3
PLCB4
Auriculocondylar Syndrome 3
ZIC1
Craniosynostosis 1
RASA1
Sturge–weber Syndrome
CCDC50
Deafness, Autosomal Dominant 44
SLC1A1
Normal Tension Glaucoma
ERF
Callosity
Craniosynostosis 1
BMP2
Callosity
Craniosynostosis 1
TWIST1
Craniosynostosis 1
FGFR2
Craniosynostosis 1