Microphthalmia, syndromic 3

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Subtype of: Microphthalmia
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Microphthalmia syndromic type 3
MONDO_0008799
SOX2 Unknown
18831064 21326281 19254784 12612584 16932809 16283891 15346919 16543359 16470798 21919124 12002146 17219395 15812812 15389708 16145681
Open Targets
Microphthalmia, syndromic 3
MONDO_0008799
SOX2 Unknown
24859618 12612584 29371155 30450772 16932809 24033328
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Microphthalmia, syndromic 3.
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Microphthalmia syndromic type 3, optic nerve hypoplasia and abnormalities of the central nervous system 1 shared geneSOX2 Related via 1 shared gene including SOX2. Optic nerve hypoplasia and abnormalities of the central nervous system 1 shared geneSOX2 Related via 1 shared gene including SOX2. Thoracic neoplasms 1 shared geneSOX2 Related via 1 shared gene including SOX2. Aniridia 1 shared geneSOX2 Related via 1 shared gene including SOX2. Sensorineural hearing loss 1 shared geneSOX2 Related via 1 shared gene including SOX2.