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Diseases
Genes (682)
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ASL
Argininosuccinic Aciduria
BMPR1A
Juvenile Polyposis Syndrome
SMAD4
Juvenile Polyposis Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
POLG
Balo Concentric Sclerosis
Merrf Syndrome
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
LMNA
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
GNE
Limb–girdle Muscular Dystrophy
Salla Disease
ENG
Juvenile Polyposis Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome