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Diseases
Genes (841)
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ASL
Argininosuccinic Aciduria
SLC6A19
Hartnup Disease
MYO5B
Microvillus Inclusion Disease
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
OPA3
Costeff Syndrome
SLC17A5
Salla Disease
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
MC2R
Hyperkalemia
Familial Glucocorticoid Deficiency
UMOD
Medullary Cystic Kidney Disease
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
STX3
Microvillus Inclusion Disease
MRAP
Hyperkalemia
Familial Glucocorticoid Deficiency
SYCP3
Spermatogenesis Arrest
IL1B
Cholera
Bronchopulmonary Dysplasia
STAR
Cholera
Hyperkalemia
Familial Glucocorticoid Deficiency
NNT
Hyperkalemia
Familial Glucocorticoid Deficiency
TXNRD2
Hyperkalemia
Familial Glucocorticoid Deficiency
GNE
Salla Disease