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Diseases
Genes (873)
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SLC6A19
Hartnup Disease
MYO5B
Microvillus Inclusion Disease
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
BLM
Bloom Syndrome
OPA3
Costeff Syndrome
SLC17A5
Salla Disease
FECH
Erythropoietic Protoporphyria
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
UMOD
Medullary Cystic Kidney Disease
MED12
Fg Syndrome
MC2R
Familial Glucocorticoid Deficiency
FLNA
Intestinal Neuronal Dysplasia
Bronchopulmonary Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
STX3
Microvillus Inclusion Disease
CD55
Protein Losing Enteropathy
CTNS
Cystinosis
MRAP
Familial Glucocorticoid Deficiency
IL1B
Bronchopulmonary Dysplasia
Cystinosis
GNE
Salla Disease