Pendred syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PENDRED SYNDROME
274600705MESH:C536648MONDO:0010134
FOXI1 Unknown
20301640
CTD, ClinVar, Disgenet, HPO, Orphanet —
PENDREDS SYNDROME
C0271829
CLDN9 Unknown — Disgenet
DIAPH1 Unknown — Disgenet
FOXI1 Unknown — Disgenet —
KCNJ10 Unknown — Disgenet
MYO7A Unknown — Disgenet
OTOF Unknown — Disgenet
SLC26A4 Unknown
9618167 11317356 19204907 10718825 9618166 15355436 11375792 11748854 15689455 10602116 12788906 14679580 12974744 11919333 9398842 15531480 11932316 10878664
Disgenet, ClinGen
All7 Causal2 Unknown7
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Arthrogryposis with ectodermal dysplasia 1 shared geneOTOF Related via 1 shared gene including OTOF. Sensorineural hearing loss thrombocytopenia syndrome 1 shared geneDIAPH1 Related via 1 shared gene including DIAPH1. progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 shared geneDIAPH1 Related via 1 shared gene including DIAPH1. East syndrome 1 shared geneKCNJ10 Related via 1 shared gene including KCNJ10. hearing loss, autosomal recessive 116 1 shared geneCLDN9 Related via 1 shared gene including CLDN9.