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Diseases
Genes (495)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
SLC17A5
Salla Disease
MED12
Fg Syndrome
GNAQ
Sturge–weber Syndrome
Erdheim–chester Disease
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
UMOD
Medullary Cystic Kidney Disease
UBA1
X-Linked Spinal Muscular Atrophy Type 2
MC2R
Familial Glucocorticoid Deficiency
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
RASA1
Sturge–weber Syndrome
STX3
Microvillus Inclusion Disease
CTNS
Cystinosis
MEN1
Glucagonoma
CNBP
Myotonic Dystrophy