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Diseases
Genes (1768)
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SLC6A19
Hartnup Disease
ADSL
Adenylosuccinate Lyase Deficiency
POLG
Balo Concentric Sclerosis
Liver Disease
TTPA
Familial Isolated Vitamin E Deficiency
BLM
Bloom Syndrome
SLC17A5
Salla Disease
Liver Disease
OPA3
Costeff Syndrome
IRF6
Van Der Woude Syndrome
Liver Disease
MOCOS
Xanthinuria
UMOD
Medullary Cystic Kidney Disease
Van Der Woude Syndrome
Liver Disease
MED12
Fg Syndrome
ABCC9
Cantú Syndrome
PMM2
Liver Disease
Pmm2 Deficiency
GRHL3
Van Der Woude Syndrome
SYNE1
Nevus
Bronchopulmonary Dysplasia
Emery–dreifuss Muscular Dystrophy
LMNA
Emery–dreifuss Muscular Dystrophy
Liver Disease
NOP56
Spinocerebellar Ataxia Type 36
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Bronchopulmonary Dysplasia
Fg Syndrome
Emery–dreifuss Muscular Dystrophy
Liver Disease
KCNJ8
Cantú Syndrome