Subtype of: Deafness · Deafness, autosomal recessive

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	MONDO_0010933	SLC26A4	Unknown	9500541 15531480 9398842 9618166 12788906 17690912 19287372 12920581 17940114 10861298 20442411 11317356 18310264 11932316 10449762 11274445 10190331 10878664 10902795 10404839 15679828 18285825 9618167 12107249 17503324 19426954 12354788 16570074 9920104 14508505 8541853 12974744 9729124 10843192 12676893 16260629 10192399 22139968 17718863 11152663 19204907 9302427 12727986 15689455 10602116 17443271 10571950 12642503	Open Targets	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct