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Diseases
Genes (692)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
GLMN
Glomuvenous Malformation
BRAF
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Pleomorphic Xanthoastrocytoma
KRAS
Pilocytic Astrocytoma
Intraductal Papillary Mucinous Neoplasm
Pleomorphic Xanthoastrocytoma
Melorheostosis
PQBP1
Renpenning's Syndrome
CDKN1C
Beckwith-Wiedemann Syndrome
COL18A1
Pilocytic Astrocytoma
Knobloch Syndrome 1
MED12
Fg Syndrome
DSG1
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
FAM20A
Enamel-Renal Syndrome
TEK
Glomuvenous Malformation
Multiple Cutaneous And Mucosal Venous Malformations
DNAJC19
3-Methylglutaconic Aciduria, Type V
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
IGF2
Beckwith-Wiedemann Syndrome