SLC26A4 (solute carrier family 26 member 4)

Gene

• Entrez ID: 5172
• Gene name: Solute carrier family 26 member 4
• Gene symbol: SLC26A4
• Synonyms (NCBI Gene): DFNB4, EVA, PDS, TDH2B
• Chromosome: 7
• Chromosome location: 7q22.3
• Summary: Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3` of the S

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939086	A>C,G	Pathogenic, affects	Missense variant, coding sequence variant
rs80338848	T>C	Pathogenic	Missense variant, coding sequence variant
rs80338849	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs111033193	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs111033199	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033212	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs111033220	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033242	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs111033244	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033245	G>T	Likely-pathogenic	Splice donor variant
rs111033254	T>C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033256	T>A	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033257	G>A	Affects, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033303	G>T	Pathogenic	Missense variant, coding sequence variant
rs111033305	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033306	TGC>-	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, inframe deletion, coding sequence variant, downstream transcript variant
rs111033307	T>G	Affects, pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs111033308	G>A,C	Affects, pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033309	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033311	G>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, downstream transcript variant
rs111033312	G>A,C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs111033313	A>G	Pathogenic	Splice acceptor variant
rs111033314	A>G,T	Pathogenic	Intron variant
rs111033316	A>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033317	->C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs111033318	T>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033348	C>T	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033380	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs111033400	TC>A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033407	->AGTC	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant, downstream transcript variant
rs111033454	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs114473792	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908360	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908361	A>G,T	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs121908362	A>G	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908363	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908364	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908365	T>A,C	Affects, likely-pathogenic	Missense variant, coding sequence variant
rs121908366	C>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138462416	G>A,T	Other, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142498437	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs142656144	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs142723249	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145254330	C>T	Other, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146269871	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs146281367	G>A,C,T	Likely-pathogenic, affects	Coding sequence variant, missense variant
rs147952620	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs192366176	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs200455203	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs200511789	A>C	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs201562855	A>T	Pathogenic	Missense variant, coding sequence variant
rs201660407	A>C,G,T	Likely-pathogenic, affects	Missense variant, coding sequence variant
rs201905280	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202033028	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs368119540	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs375540945	T>A,C	Affects	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant
rs376653349	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant, downstream transcript variant
rs397516413	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397516414	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516416	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant, stop gained
rs397516417	G>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant, splice donor variant
rs397516418	T>G	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs397516421	G>A	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516423	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516424	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516427	G>T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516428	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397516432	T>C	Pathogenic	Splice donor variant
rs431905486	->A	Pathogenic	Frameshift variant, coding sequence variant
rs483353048	A>C,T	Likely-pathogenic	Intron variant
rs541538556	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs542079779	G>A	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs542620119	G>C	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503428	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs727503430	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs727503431	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs727505080	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs727505088	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs727505230	T>C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs746427774	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs747076316	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs747431002	T>C	Uncertain-significance, affects	Coding sequence variant, missense variant
rs749013429	C>A,T	Likely-benign, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs750834241	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs752807925	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs756076960	TGTA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs756272252	G>C,T	Uncertain-significance, affects	Coding sequence variant, missense variant
rs757820624	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs759414956	G>A,C,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, splice acceptor variant
rs759683649	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760040670	G>T	Affects, uncertain-significance	Coding sequence variant, missense variant
rs760413427	A>G	Affects	Coding sequence variant, missense variant
rs763006761	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs765884316	A>G	Pathogenic	Intron variant
rs766572560	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs767255075	T>C,G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs768245266	->G	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs768471577	A>G	Likely-pathogenic	Coding sequence variant, downstream transcript variant, intron variant, genic downstream transcript variant, missense variant
rs773861155	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs777008062	TCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs777333979	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778901860	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204450	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786204474	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs786204502	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204523	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786204600	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786204601	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204730	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204739	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657722	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs876657723	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886043058	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044696	TTT>AA	Pathogenic	Coding sequence variant, frameshift variant
rs912147281	T>C	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs918684449	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs984967571	C>T	Affects	Coding sequence variant, missense variant
rs1045933779	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057516243	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057516354	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516535	TCAGTTGTGAGT>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1057516636	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516678	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516717	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516796	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516881	T>A	Pathogenic	Splice donor variant
rs1057516988	G>A	Pathogenic	Splice acceptor variant
rs1057517000	G>A,T	Likely-pathogenic	Splice donor variant
rs1057517042	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517161	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057517246	GGAATTAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517298	G>T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1057517303	T>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs1057518006	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520369	T>C,G	Likely-pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1057521147	G>A	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1057524176	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1060499807	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1060499808	T>C	Affects, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1205712508	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1241745103	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1275009555	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1284633493	A>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, intron variant, downstream transcript variant, missense variant
rs1293971731	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1298217152	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1374999656	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1399914687	T>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1413121429	A>C	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1455597424	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554354787	T>C	Affects, likely-pathogenic	Coding sequence variant, missense variant
rs1554354801	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554355011	G>A	Pathogenic	Splice acceptor variant
rs1554357206	ATCTTTTGTTTTATTTCAGACGATAATTGCTAC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554357231	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554358720	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554359670	C>A	Affects, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs1554359693	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1554360358	A>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554360678	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554360707	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554360816	TAAGTAACTTGACATTT>-	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554360841	AG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554361584	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554361624	T>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554362735	->GCTGG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554362815	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1562822565	C>T	Pathogenic	Coding sequence variant, missense variant
rs1562835391	C>G	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1562835480	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, intron variant, stop gained
rs1562835515	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, intron variant, frameshift variant
rs1584304377	G>T	Affects	Missense variant, coding sequence variant
rs1584306754	AG>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584317722	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584325160	C>T	Affects	Missense variant, coding sequence variant
rs1584331188	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584337134	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584337228	G>A	Affects	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584337274	C>T	Affects	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584344549	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584344687	->G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023097	hsa-miR-124-3p	Microarray	18668037
MIRT030168	hsa-miR-26b-5p	Microarray	19088304
MIRT1357811	hsa-miR-103a	CLIP-seq
MIRT1357812	hsa-miR-106a	CLIP-seq
MIRT1357813	hsa-miR-106b	CLIP-seq
MIRT1357814	hsa-miR-107	CLIP-seq
MIRT1357815	hsa-miR-1193	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357817	hsa-miR-1224-5p	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357819	hsa-miR-1281	CLIP-seq
MIRT1357820	hsa-miR-129-5p	CLIP-seq
MIRT1357821	hsa-miR-139-3p	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357823	hsa-miR-17	CLIP-seq
MIRT1357824	hsa-miR-181a	CLIP-seq
MIRT1357825	hsa-miR-181b	CLIP-seq
MIRT1357826	hsa-miR-181c	CLIP-seq
MIRT1357827	hsa-miR-181d	CLIP-seq
MIRT1357828	hsa-miR-1827	CLIP-seq
MIRT1357829	hsa-miR-1912	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357831	hsa-miR-20a	CLIP-seq
MIRT1357832	hsa-miR-20b	CLIP-seq
MIRT1357833	hsa-miR-214	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357835	hsa-miR-2392	CLIP-seq
MIRT1357836	hsa-miR-302a	CLIP-seq
MIRT1357837	hsa-miR-302b	CLIP-seq
MIRT1357838	hsa-miR-302c	CLIP-seq
MIRT1357839	hsa-miR-302d	CLIP-seq
MIRT1357840	hsa-miR-302e	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357842	hsa-miR-3137	CLIP-seq
MIRT1357843	hsa-miR-3171	CLIP-seq
MIRT1357844	hsa-miR-3176	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT1357846	hsa-miR-331-5p	CLIP-seq
MIRT1357847	hsa-miR-33a	CLIP-seq
MIRT1357848	hsa-miR-33b	CLIP-seq
MIRT1357849	hsa-miR-3619-5p	CLIP-seq
MIRT1357850	hsa-miR-3646	CLIP-seq
MIRT1357851	hsa-miR-3647-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT1357853	hsa-miR-3662	CLIP-seq
MIRT1357854	hsa-miR-3668	CLIP-seq
MIRT1357855	hsa-miR-3672	CLIP-seq
MIRT1357856	hsa-miR-3686	CLIP-seq
MIRT1357857	hsa-miR-372	CLIP-seq
MIRT1357858	hsa-miR-373	CLIP-seq
MIRT1357859	hsa-miR-374a	CLIP-seq
MIRT1357860	hsa-miR-374b	CLIP-seq
MIRT1357861	hsa-miR-3915	CLIP-seq
MIRT1357862	hsa-miR-3922-3p	CLIP-seq
MIRT1357863	hsa-miR-3928	CLIP-seq
MIRT1357864	hsa-miR-3935	CLIP-seq
MIRT1357865	hsa-miR-411	CLIP-seq
MIRT1357866	hsa-miR-4262	CLIP-seq
MIRT1357867	hsa-miR-4279	CLIP-seq
MIRT1357868	hsa-miR-4284	CLIP-seq
MIRT1357869	hsa-miR-4291	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357872	hsa-miR-4310	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT1357874	hsa-miR-4438	CLIP-seq
MIRT1357875	hsa-miR-4528	CLIP-seq
MIRT1357876	hsa-miR-4532	CLIP-seq
MIRT1357877	hsa-miR-4638-5p	CLIP-seq
MIRT1357878	hsa-miR-4689	CLIP-seq
MIRT1357879	hsa-miR-4716-5p	CLIP-seq
MIRT1357880	hsa-miR-4719	CLIP-seq
MIRT1357881	hsa-miR-4722-3p	CLIP-seq
MIRT1357882	hsa-miR-4731-5p	CLIP-seq
MIRT1357883	hsa-miR-483-5p	CLIP-seq
MIRT1357884	hsa-miR-500a	CLIP-seq
MIRT1357885	hsa-miR-503	CLIP-seq
MIRT1357886	hsa-miR-5095	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT1357888	hsa-miR-519d	CLIP-seq
MIRT1357889	hsa-miR-520a-3p	CLIP-seq
MIRT1357890	hsa-miR-520b	CLIP-seq
MIRT1357891	hsa-miR-520c-3p	CLIP-seq
MIRT1357892	hsa-miR-520d-3p	CLIP-seq
MIRT1357893	hsa-miR-520d-5p	CLIP-seq
MIRT1357894	hsa-miR-520e	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT1357897	hsa-miR-524-5p	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357899	hsa-miR-586	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357901	hsa-miR-761	CLIP-seq
MIRT1357902	hsa-miR-922	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT1357904	hsa-miR-93	CLIP-seq
MIRT1357815	hsa-miR-1193	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357835	hsa-miR-2392	CLIP-seq
MIRT1922981	hsa-miR-4662a-5p	CLIP-seq
MIRT1922982	hsa-miR-4676-5p	CLIP-seq
MIRT1357879	hsa-miR-4716-5p	CLIP-seq
MIRT1922983	hsa-miR-575	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357812	hsa-miR-106a	CLIP-seq
MIRT1357813	hsa-miR-106b	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357820	hsa-miR-129-5p	CLIP-seq
MIRT1357821	hsa-miR-139-3p	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357823	hsa-miR-17	CLIP-seq
MIRT1357831	hsa-miR-20a	CLIP-seq
MIRT1357832	hsa-miR-20b	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357836	hsa-miR-302a	CLIP-seq
MIRT1357837	hsa-miR-302b	CLIP-seq
MIRT1357838	hsa-miR-302c	CLIP-seq
MIRT1357839	hsa-miR-302d	CLIP-seq
MIRT1357840	hsa-miR-302e	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT2106008	hsa-miR-3613-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT1357855	hsa-miR-3672	CLIP-seq
MIRT1357857	hsa-miR-372	CLIP-seq
MIRT1357858	hsa-miR-373	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT1357874	hsa-miR-4438	CLIP-seq
MIRT2106009	hsa-miR-4696	CLIP-seq
MIRT2106010	hsa-miR-4704-3p	CLIP-seq
MIRT1357882	hsa-miR-4731-5p	CLIP-seq
MIRT2106011	hsa-miR-4775	CLIP-seq
MIRT1357886	hsa-miR-5095	CLIP-seq
MIRT2106012	hsa-miR-511	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT1357888	hsa-miR-519d	CLIP-seq
MIRT1357889	hsa-miR-520a-3p	CLIP-seq
MIRT1357890	hsa-miR-520b	CLIP-seq
MIRT1357891	hsa-miR-520c-3p	CLIP-seq
MIRT1357892	hsa-miR-520d-3p	CLIP-seq
MIRT1357894	hsa-miR-520e	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT2106013	hsa-miR-548a-3p	CLIP-seq
MIRT2106014	hsa-miR-548ae	CLIP-seq
MIRT2106015	hsa-miR-548aj	CLIP-seq
MIRT2106016	hsa-miR-548am	CLIP-seq
MIRT2106017	hsa-miR-548e	CLIP-seq
MIRT2106018	hsa-miR-548f	CLIP-seq
MIRT2106019	hsa-miR-548x	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT1357904	hsa-miR-93	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT2330353	hsa-miR-4274	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT2330354	hsa-miR-4473	CLIP-seq
MIRT1357877	hsa-miR-4638-5p	CLIP-seq
MIRT2330355	hsa-miR-4671-3p	CLIP-seq
MIRT2330356	hsa-miR-4753-3p	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT2330357	hsa-miR-520f	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT2330358	hsa-miR-942	CLIP-seq
MIRT2394689	hsa-miR-3941	CLIP-seq
MIRT2394690	hsa-miR-466	CLIP-seq
MIRT2394691	hsa-miR-4672	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT2440439	hsa-miR-135a	CLIP-seq
MIRT2440440	hsa-miR-135b	CLIP-seq
MIRT2330354	hsa-miR-4473	CLIP-seq
MIRT2330355	hsa-miR-4671-3p	CLIP-seq
MIRT2330356	hsa-miR-4753-3p	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT2330357	hsa-miR-520f	CLIP-seq
MIRT2330358	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXI1	Unknown	19648736
STAT6	Activation	24429829

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	35601831
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	11932316, 24051746
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006885	Process	Regulation of pH	IEA
GO:0006885	Process	Regulation of pH	ISS
GO:0007605	Process	Sensory perception of sound	TAS	9398842, 10192399
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IDA	12107249
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IMP	24051746
GO:0015108	Function	Chloride transmembrane transporter activity	TAS	10192399
GO:0015111	Function	Iodide transmembrane transporter activity	IDA	12107249
GO:0015111	Function	Iodide transmembrane transporter activity	IEA
GO:0015111	Function	Iodide transmembrane transporter activity	IMP	11932316
GO:0015111	Function	Iodide transmembrane transporter activity	TAS	10192399
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015116	Function	Sulfate transmembrane transporter activity	TAS	9398842
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015698	Process	Inorganic anion transport	TAS	10192399
GO:0015705	Process	Iodide transport	IMP	16684826
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10192399
GO:0016324	Component	Apical plasma membrane	IDA	11274445, 16928804, 35601831
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019532	Process	Oxalate transport	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	35601831
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IMP	24051746
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	TAS	9398842
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 605646
• HGNC: 8818
• e!Ensembl: ENSG00000091137

Protein

• UniProt ID: O43511
• Protein name: Pendrin (Sodium-independent chloride/iodide transporter) (Solute carrier family 26 member 4)
• Protein function: Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 sto
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00916	Sulfate_transp	84 → 485	Sulfate permease family	Family
  PF01740	STAS	536 → 725	STAS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the kidney (at protein level) (PubMed:11274445). High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues (PubMed:9398842). {ECO:0000269|PubMed:112
• Sequence:

  MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
  AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
  FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
  RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
  NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
  PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
  YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
  QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
  IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
  EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
  KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
  DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
  TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS
  

• Sequence length: 780

Pathways

KEGG:

Thyroid hormone synthesis

Reactome:

Multifunctional anion exchangers
Defective SLC26A4 causes Pendred syndrome (PDS)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic; Pathogenic	rs758823761, rs1792142540, rs431905486, rs2129318790, rs1554359670, rs1554352240, rs1562822565, rs2129311265, rs2129311282, rs1315422549, rs2129316889, rs2129316898, rs2129317902, rs1476190682, rs2129318281, rs121908363, rs768454870, rs758648839, rs111033200, rs1791525285, rs747076316, rs111033312, rs1271700356, rs2129318299, rs2129314494, rs2129311772, rs786204426, rs2129308726, rs1243584839, rs1790889845, rs1057516881, rs2129311948, rs2129311957, rs1791494228, rs2129316904, rs2129316936, rs2129317522, rs2129318119, rs2129318234, rs2129318784, rs111033212, rs2129316906, rs2129317533, rs2129309202, rs2129311722, rs2129311939, rs2129314461, rs2129316944, rs2129318096, rs2129318278, rs2129319905, rs1219724284, rs2129318300, rs1409565648, rs2129315801, rs2129309208, rs483353048, rs750365180, rs2129311246, rs1021962985, rs2129311933, rs786204739, rs2535293661, rs727505088, rs727503430, rs727503428, rs2535296401, rs1473339827, rs1790560482, rs1030207622, rs1460006727, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs368119540, rs200455203, rs752807925, rs786204523, rs2129311271, rs1395993186, rs2535349697, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908361, rs121908364, rs121908362, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs2535297456, rs2535296235, rs757820624, rs749712560, rs2535336810, rs56017519, rs1554358720, rs2535281491, rs763203596, rs2535327391, rs2535317564, rs2535335393, rs1482605370, rs2535293821, rs1435734312, rs748722289, rs2535310165, rs2535338130, rs2535317617, rs767477168, rs781731620, rs770273286, rs2535350020, rs1388888912, rs2535329349, rs2535293656, rs2535341650, rs111033305, rs397516420, rs2535335265, rs2535296624, rs2535353077, rs2535319425, rs2535332449, rs2535296566, rs1791526110, rs2535317969, rs2535317559, rs2535332621, rs759683649, rs1562822698, rs968273154, rs1354286313, rs2535297502, rs746046215, rs2535326440, rs2535283390, rs753682653, rs876657722, rs2535296384, rs2535317832, rs2535326455, rs2535297516, rs2535332468, rs2535297597, rs2535310608, rs1406937547, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057521147, rs1060499808, rs141142414, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1554357231, rs1293971731, rs111033314, rs397516413, rs397516414, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs756272252, rs918684449, rs1262298247, rs1554359693, rs1554360841, rs1045933779, rs1554354787, rs1298217152, rs1275029034, rs1554352718, rs1275009555, rs201660407, rs1205712508, rs768471577, rs1554360707, rs747636919, rs777641484, rs142656144, rs1554362815, rs759414956, rs766206507, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs1584292992, rs984967571, rs760413427, rs773861155, rs1584344549, rs1584331188, rs759792660, rs1421964916, rs1791686622, rs1417146153, rs1374832271	RCV001335321 RCV001335322 RCV000083261 RCV001353374 RCV001374674 RCV001375677 RCV001375679 RCV001375683 RCV001375687 RCV001375686 RCV001375685 RCV001375690 RCV001375681 RCV001375678 RCV001375689 RCV001375682 RCV003473921 RCV004570960 RCV002250759 RCV003473991 RCV003473964 RCV003473969 RCV003473935 RCV003473943 RCV003473979 RCV003448412 RCV001822895 RCV001823276 RCV001823277 RCV001823278 RCV001823279 RCV001823280 RCV001823281 RCV001823282 RCV001823283 RCV001823284 RCV001823299 RCV001823300 RCV001823302 RCV001823303 RCV001823304 RCV001580202 RCV002051733 RCV002051734 RCV002051735 RCV002051736 RCV002051737 RCV002051738 RCV002051739 RCV002051741 RCV002051742 RCV002051743 RCV001810305 RCV001808206 RCV001809320 RCV001809321 RCV001809339 RCV000119812 RCV003475181 RCV005040413 RCV005042599 RCV002052264 RCV002251135 RCV004572119 RCV001785482 RCV000477837 RCV001580203 RCV004527363 RCV003475335 RCV004572229 RCV002444379 RCV002444380 RCV002468667 RCV001580204 RCV003330085 RCV000625825 RCV000785622 RCV003474895 RCV003474918 RCV003474916 RCV000677335 RCV003474908 RCV000763146 RCV000770860 RCV000770865 RCV001822853 RCV000515656 RCV003474912 RCV000515737 RCV000770868 RCV003474900 RCV005045179 RCV004572725 RCV003475407 RCV000005084 RCV001004645 RCV000036505 RCV000036432 RCV000036418 RCV001095693 RCV000005090 RCV000005091 RCV000005092 RCV000005094 RCV000005096 RCV003155017 RCV001004641 RCV000036499 RCV003472969 RCV001004622 RCV000036493 RCV005031392 RCV000005111 RCV000005112 RCV000005113 RCV000005114 RCV003475435 RCV005045176 RCV000218320 RCV003155549 RCV003230776 RCV003155551 RCV003475881 RCV003229556 RCV003472875 RCV003472876 RCV003472878 RCV003472879 RCV003472880 RCV003472882 RCV003472883 RCV003472884 RCV003472885 RCV003472886 RCV003472887 RCV003472888 RCV003472890 RCV003472892 RCV003472893 RCV003472894 RCV003472895 RCV003472896 RCV003472897 RCV003472898 RCV003472900 RCV003472901 RCV003472902 RCV003472904 RCV003472905 RCV003472906 RCV003472907 RCV003472908 RCV003472909 RCV003472910 RCV003472912 RCV003472913 RCV003472914 RCV003472915 RCV003472916 RCV003472917 RCV003472918 RCV003472919 RCV003472920 RCV004796824 RCV004527460 RCV005052890 RCV004527507 RCV004527508 RCV004566508 RCV004573629 RCV004573630 RCV004573631 RCV004573632 RCV004573633 RCV004573635 RCV004573636 RCV004573637 RCV004573638 RCV004573639 RCV003475968 RCV003475955 RCV000770857 RCV002481264 RCV003475958 RCV001089561 RCV000770872 RCV003475939 RCV003475951 RCV003475947 RCV000770861 RCV004567873 RCV003475965 RCV003475962 RCV001785608 RCV003475938 RCV000515685 RCV003475964 RCV004796178 RCV001004649 RCV000460029 RCV000515700 RCV000515721 RCV000515658 RCV000515717 RCV000515726 RCV000515730 RCV000515668 RCV000515708 RCV000515681 RCV000515723 RCV000515647 RCV000515662 RCV003471968 RCV003471971 RCV003152674 RCV000225034 RCV003473262 RCV000515653 RCV001814025 RCV000036430 RCV002482976 RCV002470729 RCV005031469 RCV001807761 RCV003473265 RCV001785460 RCV003473266 RCV000515698 RCV003473267 RCV005042108 RCV002496562 RCV003473269 RCV001161291 RCV000770856 RCV002051802 RCV003473270 RCV001329893 RCV000225082 RCV000770858 RCV000036504 RCV001004629 RCV002477085 RCV003473273 RCV001004623 RCV003472169 RCV003472080 RCV002499145 RCV001785695 RCV005034246 RCV003472089 RCV001004624 RCV005034248 RCV003472108 RCV005046877 RCV003152725 RCV003472083 RCV001784255 RCV000770862 RCV001004642 RCV003472078 RCV001809737 RCV002493097 RCV003472153 RCV003472122 RCV003472079 RCV001580205 RCV003472258 RCV001785715 RCV000770855 RCV000770870 RCV000770871 RCV000770859 RCV000770863 RCV000770864 RCV000770866 RCV000770867 RCV003472359 RCV002493455 RCV001004620 RCV001004625 RCV001004628 RCV001004637 RCV001004639 RCV001004650 RCV001004806 RCV003473609 RCV003473658 RCV003473773 RCV001375680 RCV002051933 RCV004698540	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Pathogenic; Likely pathogenic	rs111033308, rs397516424, rs111033242, rs111033256, rs1562817224, rs1562817529, rs1562822565, rs1562835391	RCV004798754 RCV004798755 RCV004798756 RCV004798757 RCV000679837 RCV000679839 RCV000679838 RCV000679836	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs2129314494, rs747834704, rs111033303, rs111033205, rs111033305	RCV001814549 RCV001814426 RCV005624673 RCV005624675 RCV001814024	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Pathogenic; Likely pathogenic	rs1020457079, rs111033308, rs80338848, rs111033303, rs111033199, rs767255075, rs111033309	RCV002510559 RCV001375472 RCV001375179 RCV005624674 RCV001375189 RCV000415374 RCV005625223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs146281367, rs111033313, rs1554358720, rs142498437, rs397516413, rs111033305, rs111033220, rs111033256, rs768471577, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1421964916, rs1349370504, rs1790890770, rs756272252, rs1374832271	RCV001291248 RCV001291247 RCV000498741 RCV001291348 RCV001291249 RCV001291345 RCV001291346 RCV001291347 RCV001291246 RCV001291350 RCV001291240 RCV001291242 RCV001291243 RCV001291349 RCV004794482 RCV001291241 RCV001291244 RCV001291245 RCV001291351	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs28939086, rs80338849, rs111033303, rs111033307, rs111033205, rs397516413, rs111033220, rs397516427, rs111033302, rs773861155, rs756272252	RCV006252550 RCV006270214 RCV006255118 RCV006270215 RCV005646838 RCV005644494 RCV006252604 RCV006252428 RCV006261945 RCV006269033 RCV005864557	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pendred syndrome	Likely pathogenic; Pathogenic	rs758823761, rs431905486, rs2129311961, rs765939287, rs1315422549, rs1791675770, rs768454870, rs111033200, rs747076316, rs111033312, rs2129318096, rs2129318278, rs1219724284, rs1409565648, rs2129311240, rs483353048, rs2129311246, rs2129311951, rs1021962985, rs146281367, rs1562839439, rs2535293661, rs727505088, rs727503430, rs727503431, rs727503428, rs2535336971, rs2535296401, rs2535329463, rs1473339827, rs2535319373, rs2535317595, rs2535327495, rs2535278171, rs2535341687, rs2535310397, rs2535281374, rs2535296518, rs2535327387, rs2535349687, rs1376210516, rs2535319274, rs2535278242, rs1792142540, rs2535281505, rs55638457, rs2535296290, rs1293971731, rs2535297494, rs786204426, rs539699299, rs786204504, rs786204458, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs786204474, rs786204601, rs786204450, rs786204739, rs786204502, rs368119540, rs200455203, rs752807925, rs786204523, rs111033302, rs2129311271, rs1395993186, rs121908360, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs1584344687, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs1246149309, rs111033316, rs2535310006, rs2535296235, rs876657722, rs757820624, rs876657723, rs2535319280, rs886043058, rs2535341650, rs2535317969, rs1562822698, rs2535336810, rs2129309178, rs746046215, rs2535335453, rs2535332598, rs2535332468, rs1057516634, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs1057516678, rs1057517246, rs768245266, rs912147281, rs777333979, rs1057517042, rs777008062, rs147952620, rs142498437, rs1057516354, rs1057517000, rs376653349, rs1057517298, rs1057516717, rs1057516535, rs1057516243, rs1057517161, rs1057516636, rs1057516796, rs1057517303, rs542079779, rs1057521147, rs1060499807, rs1060499808, rs141142414, rs201562855, rs1554360358, rs763006761, rs192366176, rs749013429, rs1554357231, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs111033443, rs397516427, rs111033241, rs145254330, rs111033380, rs397516430, rs111033242, rs111033256, rs397516432, rs111033454, rs111033245, rs756272252, rs918684449, rs1262298247, rs1374999656, rs1413121429, rs1554359693, rs1554360841, rs778901860, rs1554361584, rs1455597424, rs1045933779, rs1554354787, rs1554361624, rs1298217152, rs1275029034, rs1554352718, rs1345175795, rs1275009555, rs1554354801, rs756076960, rs121908361, rs201660407, rs1554359670, rs1205712508, rs1554357206, rs768471577, rs1554360707, rs747636919, rs777641484, rs142656144, rs1554362815, rs1562822565, rs766206507, rs371544695, rs1562835515, rs746427774, rs1241745103, rs759683649, rs759414956, rs984967571, rs760413427, rs773861155, rs1584344549, rs1584331188, rs1584337134, rs759792660, rs1421964916, rs1417146153, rs141158498	RCV001830394 RCV000083261 RCV001375369 RCV001375370 RCV001836381 RCV002469384 RCV004801003 RCV001831400 RCV005038199 RCV005038180 RCV004770190 RCV004770191 RCV005040341 RCV004796666 RCV005607065 RCV003230718 RCV004526869 RCV005607049 RCV005042599 RCV005406232 RCV002272857 RCV002283754 RCV000675175 RCV000411928 RCV000409741 RCV001785478 RCV001785480 RCV002306515 RCV002306773 RCV002306800 RCV002309620 RCV002309652 RCV002308192 RCV002308201 RCV002309049 RCV002309133 RCV002309242 RCV002309269 RCV002309348 RCV002309379 RCV002309406 RCV002306869 RCV002307043 RCV002310162 RCV002310307 RCV002310421 RCV002308388 RCV002308471 RCV002469978 RCV002471527 RCV000169018 RCV000169378 RCV000169187 RCV000169098 RCV000169324 RCV000169192 RCV000169009 RCV000169595 RCV000169571 RCV000169232 RCV000169356 RCV000169430 RCV000169123 RCV000169357 RCV000169076 RCV000169586 RCV000169184 RCV000169404 RCV000169245 RCV000169591 RCV000169223 RCV005406566 RCV005045179 RCV005045180 RCV000005081 RCV000169242 RCV000005086 RCV000005087 RCV000005088 RCV000005089 RCV000036501 RCV005406724 RCV000005095 RCV000005097 RCV000005099 RCV000005100 RCV000005101 RCV000005103 RCV000005104 RCV000005105 RCV000005106 RCV000005107 RCV000169251 RCV000036513 RCV001753402 RCV000036420 RCV005239594 RCV005616544 RCV005608844 RCV005045176 RCV000412149 RCV000218320 RCV001785519 RCV003237250 RCV001785544 RCV005036825 RCV005608973 RCV005608974 RCV004801354 RCV005931447 RCV004796824 RCV005036890 RCV005608993 RCV005616693 RCV005040698 RCV000410259 RCV000409402 RCV000409492 RCV000411778 RCV000410577 RCV000412454 RCV000411641 RCV000411038 RCV000409855 RCV000409090 RCV000411285 RCV000411792 RCV000409144 RCV000410744 RCV000411132 RCV000411469 RCV000410353 RCV000411368 RCV000409041 RCV000409312 RCV000410038 RCV000411152 RCV000411353 RCV000410361 RCV000410627 RCV000412428 RCV000409230 RCV000410617 RCV000409482 RCV004796178 RCV000454360 RCV000454307 RCV005044707 RCV005034057 RCV000668348 RCV000670962 RCV000669310 RCV005632436 RCV001783104 RCV001831648 RCV000169097 RCV001171536 RCV000169222 RCV001814025 RCV000036430 RCV000169533 RCV000169051 RCV000169037 RCV000454189 RCV005031470 RCV000410548 RCV000666548 RCV000984218 RCV000984221 RCV005042108 RCV000673671 RCV000410723 RCV000675129 RCV000778812 RCV000169448 RCV001826556 RCV000675123 RCV000412115 RCV001273161 RCV000225040 RCV002482978 RCV000169606 RCV000036504 RCV000169244 RCV001781352 RCV001171537 RCV000665064 RCV000667963 RCV000672039 RCV000674300 RCV000666349 RCV000668990 RCV000674628 RCV000664579 RCV000668629 RCV000667758 RCV000665540 RCV000674960 RCV000669355 RCV000667731 RCV000672680 RCV000668903 RCV000672298 RCV000668097 RCV000668978 RCV000668101 RCV000672001 RCV000665958 RCV000667022 RCV000668349 RCV000666056 RCV000668660 RCV000672119 RCV000664842 RCV000666340 RCV000673204 RCV000665266 RCV000668081 RCV000665637 RCV000673239 RCV000670213 RCV000666346 RCV000673114 RCV005240455 RCV001785714 RCV004796301 RCV003323717 RCV005606708 RCV001785722 RCV001004223 RCV005633696 RCV001825552 RCV002493455 RCV002469306 RCV003235420 RCV005408014 RCV005633759 RCV001004222 RCV001004224 RCV001027888 RCV001275120 RCV003331083 RCV001265206 RCV001824946	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs111033200, rs727505088, rs727503430, rs727503431, rs727503428, rs111033312, rs542620119, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908362, rs121908363, rs111033307, rs111033348, rs111033199, rs111033254, rs111033205, rs111033313, rs111033212, rs876657722, rs757820624, rs876657723, rs2535317969, rs1293971731, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033317, rs397516420, rs111033257, rs397516424, rs111033309, rs111033318, rs397516427, rs397516428, rs111033241, rs111033302, rs145254330, rs111033400, rs111033380, rs397516430, rs111033242, rs111033256, rs397516432, rs111033454, rs111033245	RCV004017832 RCV000156529 RCV000151908 RCV000151910 RCV000151902 RCV000155956 RCV000214962 RCV000036444 RCV000824766 RCV000824771 RCV000824768 RCV000036425 RCV000824764 RCV000036477 RCV000154350 RCV000036437 RCV000824763 RCV000824762 RCV000036449 RCV000036509 RCV000824767 RCV000824769 RCV000213351 RCV000824772 RCV000221940 RCV004018169 RCV000603987 RCV000036424 RCV000036426 RCV000036427 RCV000036428 RCV000036429 RCV000824770 RCV000036433 RCV000036434 RCV000036438 RCV000036439 RCV000036440 RCV000036442 RCV000036445 RCV000036448 RCV000036451 RCV000036453 RCV000036454 RCV000036457 RCV000036463 RCV000036467 RCV000036468 RCV000036476 RCV000036478 RCV000036487 RCV000036489 RCV000036491 RCV000036492 RCV000036500 RCV000036502 RCV000824765 RCV000036506 RCV000036507 RCV000036508 RCV000036510 RCV000036512	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RASopathy	Likely pathogenic	rs2129311246	RCV004542138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs2129311933, rs111033256	RCV005420510 RCV005420507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC26A4-related disorder	Likely pathogenic; Pathogenic	rs542620119, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908362, rs111033199, rs111033205, rs111033313, rs111033212, rs757820624, rs2535310165, rs1057516988, rs111033407, rs397516418, rs111033316, rs397516421, rs111033309, rs397516427, rs111033302, rs145254330, rs111033242, rs766206507, rs1791846977	RCV004528923 RCV004528073 RCV004528074 RCV004528075 RCV004528076 RCV004528077 RCV004528078 RCV004528079 RCV004528081 RCV004737136 RCV002291265 RCV004529370 RCV004738745 RCV004530498 RCV004534762 RCV004528182 RCV004737174 RCV004534763 RCV002291269 RCV004737175 RCV003114215 RCV004534767 RCV004724763 RCV004723148 RCV004545822	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thymoma	Pathogenic	rs80338849	RCV005887297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolff-Parkinson-White pattern	Likely pathogenic; Pathogenic	rs111033205	RCV000656195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHYREOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypothyroidism	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM DUE TO ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly 5, primary, autosomal recessive	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondrogenesis, type IB (disorder)	Achondrogenesis	BEFREE	15720248		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	29095749		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10192399, 12727855, 15687339		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	23162105		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	22918213		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	39460668	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	31802424		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	31656273	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14694358		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18424749, 18641360, 19289392, 21045265, 21814192, 22116359, 24429826, 26143180, 28378089, 29359006, 31281021		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18424749, 18641360		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19289392, 22116359, 22918213, 23314903, 24429826, 26143180	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Aspirin-Induced	Asthma	BEFREE	22918213		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14694358		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35741772	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 4A	Bartter syndrome	Pubtator	29986705	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	14694358		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20177029, 26285906		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34880202	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11454507, 11575851		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	28717060	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	30012816, 30621529		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	31177114		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18424749, 21814192, 22116359, 24429826, 26143180		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18424749		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30126769		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	22918213, 26143180, 30126769		★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	25468468	Associate	★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chloride diarrhea	Congenital chloride diarrhea	Pubtator	32295532	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	24248179, 28215547, 28718179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	26886089, 34545167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	31020658		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	31020658		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	11919333, 12727986, 16570074, 17443271, 20834201, 21704276		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	9974420		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	9974420		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	9974420		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	26143180, 31731479		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26932931, 29482189, 31019198		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35748162, 37967223	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12676893, 16260428, 16460646, 16791000, 17690912, 18585793, 19289392, 19744334, 21162657, 21811586, 21917135, 22116359, 22116360, 22384008, 22444735, 23151025, 23185506, 23504402, 23767834, 23967202, 24341454, 24612839, 26035154, 26252218, 26397989, 26485571, 26763877, 26783197, 27308839, 27344577, 27573290, 28052261, 28222800, 28429364, 28640090, 28687817, 28717060, 28900111, 28901477, 28925492, 29434063, 29634755, 30036422, 30139988, 30235673, 30473558, 30576380, 30693673, 30973918, 31243244, 31250571, 31345197, 31415960, 31564438, 31581539, 31656273, 31876389, 31971949, 31992338, 32048449, 32295532, 32536503, 33724713, 33827324, 34325055, 34335733, 35047053, 35062939, 35106950, 35804348, 36072472, 36553459, 36597107, 37062750, 38172182, 38172427, 39700758, 9039988	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Autosomal Dominant 1	Deafness	Pubtator	36071244	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	12676893, 29739340	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	23824987, 28941661, 29739340, 30268946		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	UNIPROT_DG	10190331, 10700480, 11748854, 12676893, 14508505, 14679580, 19204907, 20108392, 20597900, 24051746, 28281779, 9500541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	CLINVAR_DG	10190331, 10861298, 10878664, 11919333, 11932316, 12354788, 12676893, 12788906, 14508505, 14679580, 15355436, 15574297, 15679828, 15811013, 16053392, 16460646, 16570074, 16711435, 17443271, 17718863, 17851929, 17876604, 18285825, 18310264, 18813951, 19169484, 19204907, 19608655, 19615760, 19786220, 20128824, 20583162, 20826203, 20842945, 21154317, 21961810, 22116360, 22975760, 23273637, 23705809, 23967202, 24007330, 24105851, 24224479, 24338212, 24599119, 25266519, 25290043, 25394566, 25468468, 25525159, 25572613, 26226137, 26346818, 26752218, 26763877, 26969326, 27246798, 27344577, 27771369, 28000701, 28444304, 28604962, 28786104, 28964290, 29048421, 29372807, 29546359, 29739340, 30077349, 30086623, 30139988, 30240412, 30484383, 30622556, 30693673, 30760291, 9500541, 9618166, 9618167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	BEFREE	12324385, 16570074, 17443271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	GENOMICS_ENGLAND_DG	9920104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	10492731		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	10192399		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	11454507, 15170676		★☆☆☆☆ Found in Text Mining only
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	28803436		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	21961810	Associate	★☆☆☆☆ Found in Text Mining only
Euthyroid Goiter	Euthyroid Goiter	BEFREE	14564411		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	19318451		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	15942636	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	19050049, 21035230, 21045265, 23280318		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	21035230, 23280318		★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	23555729, 31564438, 34533568	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	16460646, 16931589, 18585793, 18813951, 19040761, 19289392, 19744334, 19786220, 19888295, 19998422, 20668687, 21728752, 21811586, 21961810, 22116359, 22116360, 22389666, 22444735, 23151025, 23469187, 23504402, 23770805, 24341454, 24599119, 24804242, 25149764, 25231367, 26004784, 26035154, 26485571, 27082237, 27109633, 27214836, 27573290, 27792752, 27859305, 28225033, 28640090, 28687817, 28901477, 28925492, 29293505, 29320412, 29434063, 29707576, 29739340, 30036422, 30068397, 30113565, 30303587, 30473558, 30842343, 30973918, 31266487, 31985074, 32251972, 32770655, 32910226, 33231815, 33638616, 33639928, 33907123, 34154485, 34170635, 34410491, 34753855, 34936523, 34946889, 35062939, 35114279, 35177385, 35249537, 35761346, 35804348, 35816303, 35982127, 36072472, 36126472, 36362242, 36499699, 36553459, 36555390, 36633841, 37017887, 37062750, 37093292, 37107686, 37438890, 37801830, 37996878, 38037722, 39271758, 39334476, 39740534, 39967327	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing Loss Sensorineural	Hearing loss	Pubtator	16791000, 16914891, 19786220, 20146813, 21551164, 21704276, 24429826, 24804242, 25493717, 26035154, 27583405, 28687817, 28717060, 29986705, 30036422, 30068397, 30576380, 30842343, 32251972, 32666542, 35418354, 36553459, 39336818, 39460668, 39700758, 40225947	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35853923	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25231367	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30077349		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	28289181		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19289392, 22116359	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19289392, 22116359, 27090054, 28064162, 28289181, 30982848		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	21045265		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	15279074, 16791000, 20834201, 21551164, 24224479, 28718179, 29772533		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	16791000, 16914891, 21551164, 29772533	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	31020658		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10794851, 9748018		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19429184		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	27090054		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18523155	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18523155	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18523155		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	26900070		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26932931		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	15942636	Associate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	16481813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20177029, 26285906		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12490845, 15170676, 17854396, 23931930		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28701190		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12533525		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12533525		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27878381		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19429184		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	29482189		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	21551164	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32233732	Associate	★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	30760291		★☆☆☆☆ Found in Text Mining only
Mondini defect	Mondini Defect	GENOMICS_ENGLAND_DG	11932316		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	15720248		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	14694358		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	22918213, 26143180, 30126769	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	26143180, 30126769		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11762710, 11932304, 12490845, 12533525, 31177114, 31623180		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28052261	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30654796		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	21045265, 23256547, 25761933, 28640090, 28990112, 29741433, 30235673		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	12053143, 14508505, 14679580, 16570074, 17322586, 17443271, 17503324, 19204907, 19426954, 19509082, 19744334, 21045265, 21704276, 22796198, 23273637, 23504402, 23638949, 23705809, 23834103, 24599119, 25149764, 25761933, 27068579, 27082237, 27176802, 27861301, 28273078, 28576516, 28640090, 28990112, 31107121		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	31177114		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28432529		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26338373		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	23162105, 26427697		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	12676893, 15942636, 16260428, 16791000, 16914891, 17690912, 17940114, 18349467, 18813951, 19289392, 21274344, 21551164, 21704276, 21961810, 22116359, 22116360, 23185506, 23459462, 23705809, 23965030, 24429823, 24429826, 24599119, 26886089, 27109633, 27214836, 28052261, 28222800, 28941661, 29739340, 29772533, 30268946, 30760291, 31415960, 31971949, 32251972, 32295532, 32384426, 32666542, 32910226, 34680964, 35748162, 36107570, 36242759, 36499699, 36553459, 37107686, 9039988, 9070918	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pendred syndrome	Pendred Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pendred`s syndrome	Pendred Syndrome	CLINVAR_DG	10190331, 10700480, 10861298, 10874637, 10878664, 10902795, 11317356, 11375792, 11502831, 11748854, 11919333, 11932316, 12112665, 12354788, 12676893, 12788906, 12974744, 14508505, 14679580, 14715652, 15355436, 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, 21961810, 22116358, 22116360, 22285650, 22289209, 22384008, 22412181, 22717225, 22796198, 22903915, 23151025, 23151031, 23185506, 23266159, 23273637, 23296490, 23336812, 23385134, 23401162, 23504402, 23555729, 23638949, 23705809, 23838540, 23918157, 23965030, 23980138, 24007330, 24051746, 24105851, 24224479, 24248179, 24338212, 24341454, 24599119, 24612839, 24913939, 24949729, 25015771, 25149764, 25266519, 25290043, 25372295, 25373420, 25394566, 25468468, 25491636, 25525159, 25788563, 25991456, 25999548, 26100058, 26397989, 26445815, 26485571, 26683941, 26752218, 26969326, 27090054, 27240500, 27247933, 27344577, 27541434, 27573290, 27771369, 27792752, 28444304, 28604962, 28786104, 29196752, 9070918, 9398842, 9500541, 9618166, 9618167, 9920104		★☆☆☆☆ Found in Text Mining only
Pendred`s syndrome	Pendred Syndrome	CLINGEN_DG	10192399, 11152663, 11932316, 12107249, 21811566, 22429511, 24353858, 27091614, 9398842		★☆☆☆☆ Found in Text Mining only
Pendred`s syndrome	Pendred Syndrome	UNIPROT_DG	10602116, 10718825, 10878664, 11317356, 11375792, 11748854, 11919333, 11932316, 12788906, 12974744, 14679580, 15355436, 15531480, 15689455, 19204907, 9398842, 9618166, 9618167		★☆☆☆☆ Found in Text Mining only
Pendred`s syndrome	Pendred Syndrome	CTD_human_DG	10644529, 17697873		★☆☆☆☆ Found in Text Mining only
Pendred`s syndrome	Pendred Syndrome	GENOMICS_ENGLAND_DG	11932316, 9920104		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	23162105		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	27878381, 30201053, 30218565, 30693079		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	BEFREE	16791000, 18274916		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10492731		★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	20834201		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35836192	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	30146013		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22116359, 24429826, 26143180	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29734063		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	22918213	Stimulate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11919333, 15279074, 15679828, 16791000, 18285825, 18641518, 19509082, 19615760, 19786220, 20601923, 21162657, 21366435, 21551164, 22116367, 22429511, 23523376, 23918157, 24224479, 24245694, 24804242, 25266519, 25493717, 25572613, 27861301, 28341401, 28717060, 28964290, 29986705, 30077349, 30842343, 31124731, 8630497		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	11932316		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	15279074, 16053392, 17322586		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	18641518		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	BEFREE	26035154		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	15279074, 16053392, 17322586		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26568006	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30795760		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	26303896	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	ORPHANET_DG	24248179		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	15942636, 23459462, 33198784, 33554245, 36465624, 39408960	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10843192, 11454507, 12490845, 15170676, 17854396, 23931930		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	12533525, 12727986, 19050049, 23280318		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	12727986		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	16260428, 16791000, 16914891, 32910226	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	24248179		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	27525530, 30240412	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 2A	Thyroid dyshormonogenesis	Pubtator	24429826	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	BEFREE	24248179		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	ORPHANET_DG	24248179		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11454507, 12490845, 12727855, 15170676, 23931930		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15942636, 27329729, 32377223, 34408227, 38165228	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	23873425		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	15942636, 23873425, 31971949, 33198784	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	16405408		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10718825, 12354788, 15355436		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	31985074	Associate	★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	19998422	Associate	★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	28432529		★☆☆☆☆ Found in Text Mining only