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Diseases
Genes (424)
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TTPA
Familial Isolated Vitamin E Deficiency
Speech Disorder
ARID1B
Coffin-Siris Syndrome 2
Speech Disorder
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
ATR
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Coffin-Siris Syndrome 2
FLVCR1
Posterior Column Ataxia With Retinitis Pigmentosa
CENPJ
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
ARID1A
Coffin-Siris Syndrome 2
Speech Disorder
SMARCB1
Pinealoblastoma
Coffin-Siris Syndrome 2
Speech Disorder
IFIH1
Singleton Merten Syndrome
SMARCE1
Coffin-Siris Syndrome 2
SOX11
Coffin-Siris Syndrome 2
PCNT
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
ATRIP
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
TRAIP
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
CENPE
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
PLK4
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
SMARCA4
Coffin-Siris Syndrome 2
Vascular Tumor