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Diseases
Genes (471)
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RET
Multiple Endocrine Neoplasia Type 2
Central Hypoventilation Syndrome, Congenital
ABHD5
Cerebral Creatine Deficiency
LCAT
Fish-Eye Disease
CACNA1C
Timothy Syndrome
Enamel-Renal Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
ZEB2
Mowat-Wilson Syndrome
SCN5A
Enamel-Renal Syndrome
Cardiac Conduction Defect
ANTXR2
Hyaline Fibromatosis Syndrome
WNT5A
Ror2-Related Robinow Syndrome
ADNP
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
PMM2
Pmm2 Deficiency
PIK3CA
Proteus Syndrome
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
FAM20A
Enamel-Renal Syndrome
PRPS1
Arts Syndrome
DNAAF3
Primary Ciliary Dyskinesia
MTOR
Smith-Kingsmore Syndrome
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
AKT1
Multiple Endocrine Neoplasia Type 2
Proteus Syndrome
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
PUS1
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
PTEN
Multiple Endocrine Neoplasia Type 2
Proteus Syndrome
PUF60
Verheij Syndrome