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Diseases
Genes (775)
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LMNA
Limb–girdle Muscular Dystrophy
Fragile X-Associated Tremor/ataxia Syndrome
Emery–dreifuss Muscular Dystrophy
Holt–oram Syndrome
Bethlem Myopathy
ASL
Argininosuccinic Aciduria
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
FOXP3
Ipex Syndrome
COL6A1
Limb–girdle Muscular Dystrophy
Bethlem Myopathy
TBX5
Holt–oram Syndrome
POLG
Balo Concentric Sclerosis
F12
Factor Xii Deficiency
PMM2
Pmm2 Deficiency
FMR1
Fg Syndrome
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
SYNE1
Limb–girdle Muscular Dystrophy
Emery–dreifuss Muscular Dystrophy
MED12
Fg Syndrome
Alpha-Thalassemia Mental Retardation Syndrome
PQBP1
Renpenning's Syndrome
ABCC9
Cantú Syndrome
COL6A3
Limb–girdle Muscular Dystrophy
Bethlem Myopathy
COL6A2
Limb–girdle Muscular Dystrophy
Bethlem Myopathy
TAF1
Dystonia 3, Torsion, X-Linked
PRPS1
Arts Syndrome
UMOD
Medullary Cystic Kidney Disease
CACNA1A
Childhood Absence Epilepsy