SLC4A1 (solute carrier family 4 member 1 (Diego blood group))

Gene

• Entrez ID: 6521
• Gene name: Solute carrier family 4 member 1 (Diego blood group)
• Gene symbol: SLC4A1
• Synonyms (NCBI Gene): AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5036	T>C	Pathogenic, benign, likely-benign	Coding sequence variant, missense variant, 5 prime UTR variant
rs2285644	G>A,T	Pathogenic, benign, likely-benign	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs13306787	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs28929480	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931583	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs28931584	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931585	G>A,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs45562031	C>T	Likely-pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs56361140	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs75731670	C>G,T	Affects	Missense variant, coding sequence variant
rs121912741	C>T	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912742	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912743	C>G,T	Affects	Coding sequence variant, missense variant
rs121912744	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912745	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912746	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121912748	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912749	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912750	T>C	Pathogenic	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121912751	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121912752	ACC>-	Pathogenic	Coding sequence variant, downstream transcript variant, inframe deletion, genic downstream transcript variant
rs121912753	A>G	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912754	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121912755	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912756	C>T	Affects	Coding sequence variant, missense variant
rs121912757	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912758	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121912759	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs147390654	C>A,T	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs373916826	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387906565	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs387906566	->CATCTGGGTG	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant
rs750930293	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs769664228	GGCAGCCAGGACCTGGGGGCTGAATGC>-	Pathogenic, protective	Inframe deletion, coding sequence variant
rs772264078	G>T	Likely-pathogenic	Intron variant
rs863225461	A>G	Pathogenic	Missense variant, coding sequence variant
rs863225462	T>C	Pathogenic	Missense variant, coding sequence variant
rs863225463	A>G	Pathogenic	Missense variant, coding sequence variant
rs866727908	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs878853002	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518222	TGTTGGGGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555596072	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555596165	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555596483	C>T	Pathogenic	Splice donor variant
rs1555596757	T>C	Pathogenic	Splice acceptor variant
rs1567830555	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1567834739	C>T	Pathogenic	Splice donor variant
rs1598299485	C>T	Pathogenic	Missense variant, coding sequence variant
rs1598301457	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598302037	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT519094	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT519093	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT531922	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT531921	hsa-miR-1182	PAR-CLIP	22012620
MIRT531920	hsa-miR-6812-3p	PAR-CLIP	22012620
MIRT531919	hsa-miR-1267	PAR-CLIP	22012620
MIRT531918	hsa-miR-367-5p	PAR-CLIP	22012620
MIRT531917	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT531916	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT531915	hsa-miR-3135b	PAR-CLIP	22012620
MIRT531914	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT531913	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT531912	hsa-miR-3652	PAR-CLIP	22012620
MIRT531911	hsa-miR-4430	PAR-CLIP	22012620
MIRT531910	hsa-miR-143-5p	PAR-CLIP	22012620
MIRT531909	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT531908	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT531907	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT531906	hsa-miR-5698	PAR-CLIP	22012620
MIRT519097	hsa-miR-802	PAR-CLIP	23446348
MIRT519095	hsa-miR-1244	PAR-CLIP	23446348
MIRT519094	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519093	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519092	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT519091	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519090	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519089	hsa-miR-548s	PAR-CLIP	23446348
MIRT519088	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519087	hsa-miR-588	PAR-CLIP	23446348
MIRT519086	hsa-miR-4435	PAR-CLIP	23446348
MIRT519085	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519084	hsa-miR-5096	PAR-CLIP	23446348
MIRT531921	hsa-miR-1182	HITS-CLIP	27418678
MIRT531917	hsa-miR-4524a-3p	HITS-CLIP	27418678
MIRT531922	hsa-miR-4524b-3p	HITS-CLIP	27418678
MIRT531920	hsa-miR-6812-3p	HITS-CLIP	27418678
MIRT519094	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT519093	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT531922	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT531921	hsa-miR-1182	PAR-CLIP	22012620
MIRT531920	hsa-miR-6812-3p	PAR-CLIP	22012620
MIRT531919	hsa-miR-1267	PAR-CLIP	22012620
MIRT531918	hsa-miR-367-5p	PAR-CLIP	22012620
MIRT531917	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT531916	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT531915	hsa-miR-3135b	PAR-CLIP	22012620
MIRT531914	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT531913	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT531912	hsa-miR-3652	PAR-CLIP	22012620
MIRT531911	hsa-miR-4430	PAR-CLIP	22012620
MIRT531910	hsa-miR-143-5p	PAR-CLIP	22012620
MIRT531909	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT531908	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT531907	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT531906	hsa-miR-5698	PAR-CLIP	22012620
MIRT519097	hsa-miR-802	PAR-CLIP	23446348
MIRT519095	hsa-miR-1244	PAR-CLIP	23446348
MIRT519094	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519093	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519092	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT519091	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519090	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519089	hsa-miR-548s	PAR-CLIP	23446348
MIRT519088	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519087	hsa-miR-588	PAR-CLIP	23446348
MIRT519086	hsa-miR-4435	PAR-CLIP	23446348
MIRT519085	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519084	hsa-miR-5096	PAR-CLIP	23446348
MIRT1364878	hsa-miR-1	CLIP-seq
MIRT1364879	hsa-miR-105	CLIP-seq
MIRT1364880	hsa-miR-1185	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364882	hsa-miR-1224-5p	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364884	hsa-miR-1260	CLIP-seq
MIRT1364885	hsa-miR-1260b	CLIP-seq
MIRT1364886	hsa-miR-1269	CLIP-seq
MIRT1364887	hsa-miR-1269b	CLIP-seq
MIRT1364888	hsa-miR-1280	CLIP-seq
MIRT1364889	hsa-miR-1288	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1364891	hsa-miR-188-3p	CLIP-seq
MIRT1364892	hsa-miR-206	CLIP-seq
MIRT1364893	hsa-miR-3127-5p	CLIP-seq
MIRT1364894	hsa-miR-3156-3p	CLIP-seq
MIRT1364895	hsa-miR-3162-3p	CLIP-seq
MIRT1364896	hsa-miR-3190	CLIP-seq
MIRT1364897	hsa-miR-3192	CLIP-seq
MIRT1364898	hsa-miR-3605-5p	CLIP-seq
MIRT1364899	hsa-miR-361-3p	CLIP-seq
MIRT1364900	hsa-miR-3673	CLIP-seq
MIRT1364901	hsa-miR-3679-5p	CLIP-seq
MIRT1364902	hsa-miR-3689a-3p	CLIP-seq
MIRT1364903	hsa-miR-3689c	CLIP-seq
MIRT1364904	hsa-miR-371-5p	CLIP-seq
MIRT1364905	hsa-miR-3915	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1364907	hsa-miR-4270	CLIP-seq
MIRT1364908	hsa-miR-4286	CLIP-seq
MIRT1364909	hsa-miR-4293	CLIP-seq
MIRT1364910	hsa-miR-4441	CLIP-seq
MIRT1364911	hsa-miR-4515	CLIP-seq
MIRT1364912	hsa-miR-4689	CLIP-seq
MIRT1364913	hsa-miR-4724-3p	CLIP-seq
MIRT1364914	hsa-miR-4728-5p	CLIP-seq
MIRT1364915	hsa-miR-4740-5p	CLIP-seq
MIRT1364916	hsa-miR-4752	CLIP-seq
MIRT1364917	hsa-miR-4765	CLIP-seq
MIRT1364918	hsa-miR-4768-3p	CLIP-seq
MIRT1364919	hsa-miR-596	CLIP-seq
MIRT1364920	hsa-miR-610	CLIP-seq
MIRT1364921	hsa-miR-613	CLIP-seq
MIRT1364922	hsa-miR-661	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364924	hsa-miR-760	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT2108300	hsa-miR-3974	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT2108301	hsa-miR-4475	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT2108302	hsa-miR-605	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT2332077	hsa-miR-3120-3p	CLIP-seq
MIRT2332078	hsa-miR-377	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT2332079	hsa-miR-4459	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT2332080	hsa-miR-4797-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT2440547	hsa-miR-1468	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT2440547	hsa-miR-1468	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT2466123	hsa-miR-3136-5p	CLIP-seq
MIRT2466124	hsa-miR-3660	CLIP-seq
MIRT2466125	hsa-miR-4439	CLIP-seq
MIRT2466126	hsa-miR-4513	CLIP-seq
MIRT2466127	hsa-miR-4526	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IDA	14734552, 24121512
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005452	Function	Solute:inorganic anion antiporter activity	TAS
GO:0005515	Function	Protein binding	IPI	2204832, 16669616, 19438409, 20980406, 23219802, 25012180, 26049106, 26823170, 28387307, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	379653, 24121512
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	4027230
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0006820	Process	Monoatomic anion transport	TAS	4027230
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	ISS
GO:0006873	Process	Intracellular monoatomic ion homeostasis	TAS	8841202
GO:0007596	Process	Blood coagulation	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	TAS	4027230
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IBA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	24121512
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	IDA	24121512
GO:0015701	Process	Bicarbonate transport	IEA
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1527044
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	12539048, 14734552
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017121	Process	Plasma membrane phospholipid scrambling	IEA
GO:0030018	Component	Z disc	ISS
GO:0030492	Function	Hemoglobin binding	IEA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	379653
GO:0030863	Component	Cortical cytoskeleton	IDA	16669616
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0035811	Process	Negative regulation of urine volume	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	379653
GO:0043495	Function	Protein-membrane adaptor activity	TAS	10950304
GO:0045852	Process	PH elevation	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0055085	Process	Transmembrane transport	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	28387307
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865
GO:1902476	Process	Chloride transmembrane transport	IDA	14734552
GO:1904539	Process	Negative regulation of glycolytic process through fructose-6-phosphate	IEA

Other IDs

• MIM: 109270
• HGNC: 11027
• e!Ensembl: ENSG00000004939

Protein

• UniProt ID: P02730
• Protein name: Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)
• Protein function: Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:2838730
• PDB: 1BH7, 1BNX, 1BTQ, 1BTR, 1BTS, 1BTT, 1BZK, 1HYN, 2BTA, 2BTB, 3BTB, 4KY9, 4YZF, 7TVZ, 7TW0, 7TW1, 7TW2, 7TW3, 7TW5, 7TW6, 7TY4, 7TY6, 7TY7, 7TY8, 7TYA, 7UZ3, 7UZU, 7UZV, 7V07, 7V0K, 7V0M, 7V0T, 7V0U, 7V0Y, 7V19, 8CRQ, 8CRR, 8CRT, 8CS9, 8CSL, 8CSV, 8CSY, 8CT3, 8CTE, 8T3R, 8T3U, 8T44, 8T45, 8T47, 8T6U, 8T6V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07565	Band_3_cyto	86 → 329	Band 3 cytoplasmic domain	Domain
  PF00955	HCO3_cotransp	372 → 566	HCO3- transporter family	Family
  PF00955	HCO3_cotransp	555 → 839	HCO3- transporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:2204832, ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:26542571, ECO:0000269|PubMed:7506871}.; TISSUE SPECIFICI
• Sequence:

  MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVE
  LQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVL
  LDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTR
  SGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
  VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYM
  AQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYK
  GLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPA
  ITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
  TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKL
  IKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGK
  LRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFP
  IWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
  MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPIL
  SRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQ
  IICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEG
  RDEYDEVAMPV

• Sequence length: 911

Pathways

KEGG:

Collecting duct acid secretion

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Bicarbonate transporters
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

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 dominant distal renal tubular acidosis	Pathogenic; Likely pathogenic	rs2144594807, rs878853002, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs45519733, rs575655181, rs866727908, rs2047328405, rs2047358814	RCV001843326 RCV004668860 RCV000019340 RCV000019341 RCV000019342 RCV000019343 RCV004760337 RCV000019348 RCV004555490 RCV004555720 RCV002290971 RCV005624473 RCV006249737	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BLOOD GROUP--DIEGO SYSTEM	Likely pathogenic; Pathogenic	rs2144607086	RCV002249170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryohydrocytosis	Pathogenic; Likely pathogenic	rs863225461, rs863225463, rs1185330478, rs2509958522, rs121912745	RCV000202410 RCV000202408 RCV003991816 RCV003991832 RCV005859472	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal renal tubular acidosis	Likely pathogenic; Pathogenic	rs769664228, rs121912744, rs121912751	RCV001849272 RCV001849273 RCV001849274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis type 4	Likely pathogenic; Pathogenic	rs1398477044, rs2509960984, rs1162787335, rs2509960998, rs757158425, rs2509966486, rs2509958707, rs387906566, rs121912741, rs121912742, rs56361140, rs121912750, rs28931584, rs28931585, rs121912755, rs866727908, rs1555596072, rs1555596165, rs1555596757, rs1598299485, rs2144601154, rs2047398183	RCV002290998 RCV002291015 RCV002291016 RCV002291021 RCV002291022 RCV002291024 RCV002283646 RCV000019335 RCV000019337 RCV000019338 RCV000019339 RCV000019347 RCV000019350 RCV000019354 RCV000019358 RCV000655906 RCV000655902 RCV000655904 RCV000655903 RCV005633793 RCV001534595 RCV002291023	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malaria, cerebral, resistance to	Likely pathogenic; Pathogenic	rs769664228	RCV000019330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis	Likely pathogenic; Pathogenic	rs878853002, rs121912745	RCV001328264 RCV001328227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis, distal, 4, with hemolytic anemia	Likely pathogenic; Pathogenic	rs878853002, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs2047328405, rs2047358814	RCV006249616 RCV001807735 RCV005624286 RCV000019344 RCV000761459 RCV000019349 RCV001254881 RCV000019357 RCV005624473 RCV006249737	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubular acidosis, distal, with normal red cell morphology	Pathogenic	rs121912753	RCV000019356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC4A1-related disorder	Likely pathogenic; Pathogenic	rs2144601189, rs1398477044, rs2144607086, rs2509968499, rs2509966572, rs2509965507, rs121912744, rs121912748	RCV004728748 RCV004728747 RCV004548243 RCV003336819 RCV004550619 RCV004552683 RCV004549380 RCV004549381	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Southeast Asian ovalocytosis	Likely pathogenic; Pathogenic	rs878853002, rs769664228	RCV003333055 RCV000019329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acanthocytosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acanthocytosis due to band 3 HT	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive distal renal tubular acidosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP--FROESE	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP--WALDNER TYPE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP--WRIGHT ANTIGEN	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis with or without elevated sweat chloride 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIEGO BLOOD GROUP ANTIGEN	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL RENAL TUBULAR ACIDOSIS WITH ANEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Renal Tubular Acidosis, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIPTOCYTOSIS 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIPTOCYTOSIS, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubulopathies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWANN BLOOD GROUP ANTIGEN	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XEROCYTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	28216155		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17971901		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29908364		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	18266205	Associate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	27447624		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16960783		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10926824, 18266205, 20799361, 36320073, 36791635	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	26542571	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	18266205	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	15067510, 17554061, 18266205, 22126643, 9306337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CTD_human_DG	16227998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	LHGDN	17554061, 18266205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired	Anemia	CTD_human_DG	16227998		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	16912075, 26542571, 31600869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, hereditary spherocytic hemolytic	Anemia	ORPHANET_DG	23664421		★☆☆☆☆ Found in Text Mining only
Anemia, Microangiopathic	Anemia	CTD_human_DG	16227998		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30377863		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	30063906		★☆☆☆☆ Found in Text Mining only
Autosomal dominant distal renal tubular acidosis	Distal renal tubular acidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	LHGDN	15310273		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	40004059	Associate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	29474985		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31556319		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31556319	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	29609569	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34493740	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24427344, 2456980, 34228212, 36510186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22749497	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29856277		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30882710		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28258929		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	18820665	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	31177114		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30166253		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24257694		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	29278878		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	24257694	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21412790, 30690729, 31758432		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17971901	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30063906		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17971901	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	20505530, 27262945, 29908364		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28258929		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	17339199		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27816302		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	21779668	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	35144391	Associate	★☆☆☆☆ Found in Text Mining only
Dehydrated hereditary stomatocytosis	Dehydrated Hereditary Stomatocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	10352205, 10353704, 10571775, 11160790, 12081559, 12087557, 12227829, 12432217, 12750988, 12938018, 14618420, 14654610, 14734552, 14736961, 15067510, 15211439, 15252044, 16252102, 17027918, 17533027, 17941824, 18174378, 18266205, 18524859, 19289107, 19625994, 20028337, 20151848, 20799361, 20960171, 22126643, 22518001, 22609520, 22919024, 23114896, 23942433, 24920676, 24975934, 25957428, 26542571, 26571219, 27493007, 27767102, 28638614, 28994037, 29573245, 29627839, 30028003, 30554219, 31300090, 31600869, 9306337, 9312167, 9497368		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	CTD_human_DG	23460825, 9312167		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	GENOMICS_ENGLAND_DG	9600966		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal renal tubular acidosis with anemia	Distal Renal Tubular Acidosis With Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Elliptocytosis 4	Elliptocytosis	ORPHANET_DG	23339107, 23664421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	10571775, 11719395, 14695625, 15804238, 19391452, 28068080, 29043981, 32758154, 36320073, 36791635	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	16158818, 9861402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	CTD_human_DG	1737855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	GENOMICS_ENGLAND_DG	9600966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28160546	Associate	★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28099338		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29908364		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	20505530		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23258846		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23258846		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	9497368	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34481427	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	29573245, 29627839	Associate	★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	BEFREE	18266205		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27816302		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	CTD_human_DG	8343110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	BEFREE	18266205		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	LHGDN	18266205		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	18266205	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	18266205, 35321643, 36231035, 37280519	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	21645180		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	21645180		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36231035	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25044880	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary cryohydrocytosis with normal stomatin	Hereditary Cryohydrocytosis With Normal Stomatin	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	12432217, 14736961, 15067510, 15813913, 16411779, 16912075, 18174378, 19625994, 20028337, 21039340, 23942433, 29402830, 29434716, 8282779, 8547122, 9012689, 9266920, 9326249		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	CTD_human_DG	1378323		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	LHGDN	15813913, 16914912		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	ORPHANET_DG	23664421		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	34672909	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31033190	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17137217		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	23956991		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isothenuria	Isothenuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	22808299	Associate	★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	BEFREE	23878048		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	20028337, 30773598		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11844997, 27493007, 29476712		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27493007	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	16013436		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30166253		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31546341		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27797287, 28258929, 29278878, 29908364, 30690729		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21412790, 30690729, 31758432		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28258929		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	26403095		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39596553	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	26403095		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26403095		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	26403095		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31556319		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21649639		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20062076, 21649639		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	31536436		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	25044880	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33493384	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	CTD_human_DG	16227998		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	25981745		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	6207735	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21649639, 23228632, 23258846, 26969740, 31177114		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	27493007		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	27493007		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	14654610, 20960171		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	LHGDN	14654610		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	20028337, 30773598		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	40428323	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	24257694		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	31177114		★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	BEFREE	10352205, 10571775, 11719395, 14618420, 14695625, 15211439, 16096263, 16107207, 16392641, 17027918, 17941824, 19229254, 20068363, 20889874, 22426110, 28068080, 30124986		★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	GENOMICS_ENGLAND_DG	1722314, 8547122, 9600966		★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	ORPHANET_DG	23339107, 23664421		★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	20191116	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	9771451	Stimulate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	30290760	Associate	★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33964924	Associate	★☆☆☆☆ Found in Text Mining only
Priapism	Priapism	BEFREE	17408468		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	ORPHANET_DG	16227998		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	UNIPROT_DG	16227998		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	GENOMICS_ENGLAND_DG	1722314, 8547122, 9600966		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	19261491, 21255002, 28180193, 29947302, 31272276		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular acidosis distal autosomal recessive	Distal renal tubular acidosis	Pubtator	15252044, 29573245, 36320073	Associate	★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	Renal Tubular Acidosis	BEFREE	12938018, 15211439, 30124986		★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	UNIPROT_DG	10926824, 15211439, 9854053		★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	GENOMICS_ENGLAND_DG	9600966		★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology	Renal Tubular Acidosis, With Normal Red Cell Morphology	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	CTD_human_DG	23460825, 9312167		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	29573245	Associate	★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	24427344	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	15309019	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	21959309	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	24252324		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	30793712	Associate	★☆☆☆☆ Found in Text Mining only
Southeast Asian ovalocytosis	Southeast Asian Ovalocytosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spherocytosis Hereditary	Spherocytosis	Pubtator	11208088, 31122244, 31126250, 31602632, 32133777, 32436265, 33620149, 34481427, 34672909, 37280519, 37385619, 38069343, 8282779, 9012689, 9207478, 9266920, 9326249, 9401060	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	25388786, 36231035	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 3	Spherocytosis	Pubtator	8704215	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis, Type 4	Spherocytosis	UNIPROT_DG	10580570, 10745622, 10942416, 11380459, 1378323, 15813913, 16227998, 7530501, 8547122, 8640229, 8943874, 9012689, 9207478, 9233560, 9973643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Type 4	Spherocytosis	CLINVAR_DG	10745622, 9207478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Type 4	Spherocytosis	GENOMICS_ENGLAND_DG	1722314, 8547122, 9600966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Type 4	Spherocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28160546		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	16750584, 23383656, 28099338		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21649639		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	BEFREE	17554061, 22406315, 23842529		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	30882710		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	39201770	Associate	★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	ORPHANET_DG	16227998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations