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Diseases
Genes (621)
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TTPA
Familial Isolated Vitamin E Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
PDGFRB
Primary Familial Brain Calcification
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
LMNA
Pleural Effusion
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
GNE
Limb–girdle Muscular Dystrophy
Salla Disease
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
SGCG
Limb–girdle Muscular Dystrophy
MYOT
Limb–girdle Muscular Dystrophy
DES
Limb–girdle Muscular Dystrophy
CAV3
Limb–girdle Muscular Dystrophy
ASS1
Citrullinemia Type I