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Diseases
Genes (428)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
Multiple Epiphyseal Dysplasia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
DYNC1H1
Spinal Muscular Atrophy With Lower Extremity Predominance
IFIH1
Singleton Merten Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
ACTG2
Berdon Syndrome
SOST
Craniodiaphyseal Dysplasia
Multiple Epiphyseal Dysplasia
NRAS
Neurocutaneous Melanosis
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
SLC26A2
Multiple Epiphyseal Dysplasia