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Diseases
Genes (914)
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SLC6A19
Hartnup Disease
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
OPA3
Costeff Syndrome
TREX1
Aicardi–goutières Syndrome
SLC17A5
Salla Disease
FECH
Erythropoietic Protoporphyria
UMOD
Medullary Cystic Kidney Disease
MED12
Fg Syndrome
TGFBR1
Loeys–dietz Syndrome
TGFBR2
Loeys–dietz Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
Bronchopulmonary Dysplasia
MOCOS
Xanthinuria
FLNA
Intestinal Neuronal Dysplasia
Bronchopulmonary Dysplasia
Fg Syndrome
SEC23B
Congenital Dyserythropoietic Anemia
KLF1
Congenital Dyserythropoietic Anemia
SLC4A4
Proximal Renal Tubular Acidosis
ASS1
Citrullinemia Type I
CD55
Protein Losing Enteropathy