Perrault syndrome 2

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Subtype of: Perrault syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Perrault syndrome 2
MONDO_0013972
HARS2 Causal
12056811 15779907 21464306 27650058 31449985 34338890 34406847 517579 7755634
ClinGen, Open Targets
All1 Causal1 Unknown0
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Xx gonadal dysgenesis syndrome 1 shared geneHARS2 Related via 1 shared gene including HARS2. Perrault syndrome 1 shared geneHARS2 Related via 1 shared gene including HARS2. Gonadal dysgenesis 1 shared geneHARS2 Related via 1 shared gene including HARS2. Usher syndrome 1 shared geneHARS2 Related via 1 shared gene including HARS2. Hearing loss 1 shared geneHARS2 Related via 1 shared gene including HARS2.