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Diseases
Genes (812)
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ASL
Argininosuccinic Aciduria
SALL4
Duane-Radial Ray Syndrome
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
SPG11
Spastic Paraplegia 11
OTOF
Otof-Related Deafness
GBA
Gaucher Disease
TAF1
X-Linked Dystonia-Parkinsonism
PQBP1
Renpenning's Syndrome
ADNP
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
IFIH1
Singleton Merten Syndrome
LIPA
Acid Lipase Disease
XDH
Hyperuricemia
HPRT1
Hyperuricemia
ABCG2
Hyperuricemia
SLC2A9
Hyperuricemia
IL1B
Bronchopulmonary Dysplasia
Renpenning's Syndrome
Hyperuricemia
ACE
Bronchopulmonary Dysplasia
Gaucher Disease
CHIT1
Acid Lipase Disease
Gaucher Disease
RB1
Pinealoblastoma
Trilateral Retinoblastoma