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
KCNJ10 Causal
20301640
CTD, ClinVar, GWAS catalog, HPO, Orphanet
SLC26A4 Causal
10644529 17697873 20301640
CTD, ClinGen, ClinVar, GenCC, HPO, Orphanet
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
Related Diseases Diseases that share the most curated genes with Pendred syndrome.
5 View disease cluster →
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.