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Diseases
Genes (877)
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HPRT1
Hprt1 Disorders
Hyperuricemia
SALL4
Duane-Radial Ray Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
OTOF
Otof-Related Deafness
GBA
Gaucher Disease
FGFR3
Hypochondroplasia
Protein Losing Enteropathy
TAF1
X-Linked Dystonia-Parkinsonism
PQBP1
Renpenning's Syndrome
ADNP
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
IFIH1
Singleton Merten Syndrome
GNAS
Fibrous Dysplasia Of Bone
Bronchopulmonary Dysplasia
Hyperuricemia
Heterotopic Ossification
LIPA
Acid Lipase Disease
XDH
Hprt1 Disorders
Hyperuricemia
CD55
Protein Losing Enteropathy
SLC2A9
Hprt1 Disorders
Hyperuricemia
ABCG2
Hprt1 Disorders
Hyperuricemia
IL1B
Bronchopulmonary Dysplasia
Renpenning's Syndrome
Hyperuricemia
ACE
Bronchopulmonary Dysplasia
Gaucher Disease
CHIT1
Acid Lipase Disease
Gaucher Disease
RB1
Pinealoblastoma
Trilateral Retinoblastoma