Pendred syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Pendred syndrome 705 SLC26A4 Causal Pathogenic evidence from ClinVar - ClinVar
FOXI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNJ10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pendred`s syndrome C0271829 SLC26A4 Causal Pathogenic evidence from ClinVar 9070918, 9398842, 9500541, 9618166, 9618167, 9920104, 10190331, 10192399, 10602116, 10644529, 10700480, 10718825, 10861298, 10874637, 10878664, 10902795, 11152663, 11317356, 11375792, 11502831, 11748854, 11919333, 11932316, 12107249, 12112665, 12354788, 12676893, 12788906, 12974744, 14508505, 14679580, 14715652, 15355436, 15531480, 15574297, 15679828, 15689455, 15720248, 15811013, 15933521, 16053392, 16275403, 16283880, 16460646, 16482981, 16570074, 16711435, 16791000, 16914891, 16950989, 17309986, 17443271, 17503324, 17697873, 17718863, 17766716, 17851929, 17876604, 17940114, 18167283, 18250610, 18274916, 18285825, 18310264, 18813951, 19017801, 19040761, 19169484, 19199245, 19204907, 19287372, 19318451, 19426954, 19509082, 19578036, 19608655, 19620588, 19645628, 19648736, 19718752, 19744334, 19786220, 20128824, 20146813, 20583162, 20597900, 20668687, 20826203, 20842945, 21154317, 21366435, 21551164, 21704276, 21811566, 21961810, 22116358, 22116360, 22285650, 22289209, 22384008, 22412181, 22429511, 22717225 ClinVar
FOXI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNJ10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC26A4-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11317356, 11919333, 12676893, 15355436, 15679828, 16570074, 16791000, 16914891, 17876604, 18310264, 19017801, 19040761, 21704276, 22285650, 22717225, 23336812, 23918157, 23965030, 24224479, 24341454, 25394566, 26969326, 29196752 -