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Diseases
Genes (940)
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MED12
Fg Syndrome
Phyllodes Tumor
BRAF
Erdheim–chester Disease
Chronic Multifocal Langerhans Cell Histiocytosis
Hippocampal Sclerosis
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
Cutis Laxa
FMR1
Fg Syndrome
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Rolandic Epilepsy
ABCC9
Cantú Syndrome
Hippocampal Sclerosis
PQBP1
Renpenning's Syndrome
TAF1
Dystonia 3, Torsion, X-Linked
UMOD
Medullary Cystic Kidney Disease
UBE3B
Kaufman Oculocerebrofacial Syndrome
LMNA
Limb–girdle Muscular Dystrophy
Fragile X-Associated Tremor/ataxia Syndrome
FBLN5
Cutis Laxa
ELN
Cutis Laxa
KCNJ8
Cantú Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
DMPK
Myotonic Dystrophy
FLNA
Fg Syndrome
Phyllodes Tumor
TRNL1
Merrf Syndrome