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Diseases
Genes (534)
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TTPA
Familial Isolated Vitamin E Deficiency
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Fg Syndrome
PQBP1
Renpenning's Syndrome
GNAQ
Sturge–weber Syndrome
Erdheim–chester Disease
IFIH1
Singleton Merten Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBA1
X-Linked Spinal Muscular Atrophy Type 2
UBE3B
Kaufman Oculocerebrofacial Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
Subglottic Stenosis
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
RASA1
Sturge–weber Syndrome
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma