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Diseases
Genes (485)
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PMM2
Pmm2 Deficiency
ASL
Argininosuccinic Aciduria
ARID1B
Coffin-Siris Syndrome 2
TTPA
Familial Isolated Vitamin E 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
ABCC9
Cantú Syndrome
PQBP1
Renpenning's Syndrome
SLC2A10
Arterial Tortuosity Syndrome
IFIH1
Singleton Merten Syndrome
FGFR2
Jackson–weiss Syndrome
ARID1A
Coffin-Siris Syndrome 2
FGFR1
Jackson–weiss Syndrome
Phyllodes Tumor
SMARCE1
Coffin-Siris Syndrome 2
KCNJ8
Cantú Syndrome
SOX11
Coffin-Siris Syndrome 2
MMP21
Situs Ambiguus
PCNT
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
ACVR2B
Situs Ambiguus