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Diseases
Genes (648)
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ABHD5
Cerebral Creatine Deficiency
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
RUNX2
Renpenning's Syndrome
Cleidocranial Dysostosis
ATP7B
Wilson's Disease
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
CDKN1C
Beckwith-Wiedemann Syndrome
SLC17A5
Wilson's Disease
Salla Disease
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
COL18A1
Knobloch Syndrome 1
UBE3B
Kaufman Oculocerebrofacial Syndrome
DSG1
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
PCDH19
Epilepsy-Intellectual Disability In Females
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome