SLC17A5 (solute carrier family 17 member 5)

Gene

• Entrez ID: 26503
• Gene name: Solute carrier family 17 member 5
• Gene symbol: SLC17A5
• Synonyms (NCBI Gene): AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, VEAT
• Chromosome: 6
• Chromosome location: 6q13
• Summary: This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74360232	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338794	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338795	T>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs119491109	T>C	Pathogenic	Missense variant, coding sequence variant
rs119491110	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs141463026	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142553916	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146095590	C>A,T	Likely-pathogenic	Splice donor variant
rs201284672	A>C	Pathogenic	Coding sequence variant, stop gained
rs386833987	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833988	AC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833989	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833990	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs386833991	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833992	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833993	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833994	TTTCTTAATGATGAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs386833995	C>G	Likely-pathogenic	Splice acceptor variant
rs386833996	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779410	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs727504156	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504157	C>A	Pathogenic	Stop gained, coding sequence variant
rs769235753	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771156053	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772039085	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794729653	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs868677428	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516257	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516419	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516505	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516528	T>G	Likely-pathogenic	Splice acceptor variant
rs1057516549	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516601	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516862	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516910	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516951	C>T	Likely-pathogenic	Splice donor variant
rs1057517028	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057517111	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517119	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517269	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794334	A>G	Pathogenic	Splice donor variant
rs1440688652	A>G	Likely-pathogenic	Splice donor variant
rs1472109408	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1474077825	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1554161865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554162230	T>C	Likely-pathogenic	Splice acceptor variant
rs1554162842	T>G	Likely-pathogenic	Splice acceptor variant
rs1554163878	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554163958	C>T	Likely-pathogenic	Splice acceptor variant
rs1554164078	A>T	Likely-pathogenic	Splice donor variant
rs1554164096	T>C	Pathogenic	Splice acceptor variant
rs1554164322	C>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT018617	hsa-miR-335-5p	Microarray	18185580
MIRT002576	hsa-miR-124-3p	Microarray	18668037
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT027706	hsa-miR-98-5p	Microarray	19088304
MIRT029983	hsa-miR-26b-5p	Microarray	19088304
MIRT030990	hsa-miR-21-5p	Microarray	18591254
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353430	hsa-miR-1245	CLIP-seq
MIRT1353431	hsa-miR-1245b-5p	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT1353439	hsa-miR-23a	CLIP-seq
MIRT1353440	hsa-miR-23b	CLIP-seq
MIRT1353441	hsa-miR-23c	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT1353447	hsa-miR-3125	CLIP-seq
MIRT1353448	hsa-miR-3142	CLIP-seq
MIRT1353449	hsa-miR-3145-3p	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353451	hsa-miR-3160-3p	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353453	hsa-miR-320a	CLIP-seq
MIRT1353454	hsa-miR-320b	CLIP-seq
MIRT1353455	hsa-miR-320c	CLIP-seq
MIRT1353456	hsa-miR-320d	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT1353459	hsa-miR-3617	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353462	hsa-miR-3689a-5p	CLIP-seq
MIRT1353463	hsa-miR-3689b	CLIP-seq
MIRT1353464	hsa-miR-3689e	CLIP-seq
MIRT1353465	hsa-miR-3689f	CLIP-seq
MIRT1353466	hsa-miR-3691-5p	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT1353469	hsa-miR-376c	CLIP-seq
MIRT1353470	hsa-miR-3908	CLIP-seq
MIRT1353471	hsa-miR-3916	CLIP-seq
MIRT1353472	hsa-miR-3934	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353474	hsa-miR-3942-5p	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT1353477	hsa-miR-4257	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT1353480	hsa-miR-4429	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353484	hsa-miR-4660	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353487	hsa-miR-4699-3p	CLIP-seq
MIRT1353488	hsa-miR-4703-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353491	hsa-miR-4749-3p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT1353493	hsa-miR-4766-3p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353495	hsa-miR-4789-5p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353497	hsa-miR-499-3p	CLIP-seq
MIRT1353498	hsa-miR-499a-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353508	hsa-miR-520d-5p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353512	hsa-miR-524-5p	CLIP-seq
MIRT1353513	hsa-miR-548an	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT1353515	hsa-miR-552	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353518	hsa-miR-630	CLIP-seq
MIRT1353519	hsa-miR-641	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2104597	hsa-miR-24	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT2104603	hsa-miR-4284	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104605	hsa-miR-4423-5p	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104608	hsa-miR-4501	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT2104610	hsa-miR-4514	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT2104613	hsa-miR-4690-5p	CLIP-seq
MIRT2104614	hsa-miR-4692	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT2104616	hsa-miR-4736	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT2104618	hsa-miR-4795-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2104619	hsa-miR-579	CLIP-seq
MIRT2104620	hsa-miR-595	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2104624	hsa-miR-676	CLIP-seq
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2329039	hsa-miR-1224-3p	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2329040	hsa-miR-1254	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT2329041	hsa-miR-1294	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT2329043	hsa-miR-204	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT2329044	hsa-miR-211	CLIP-seq
MIRT2329045	hsa-miR-22	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT2329048	hsa-miR-3116	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2329049	hsa-miR-3159	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT2329051	hsa-miR-3938	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT2329052	hsa-miR-3943	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT2329053	hsa-miR-4316	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2329054	hsa-miR-4433	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329055	hsa-miR-4459	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT2329057	hsa-miR-4690-3p	CLIP-seq
MIRT2329058	hsa-miR-4695-3p	CLIP-seq
MIRT2329059	hsa-miR-4708-5p	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2329060	hsa-miR-4755-5p	CLIP-seq
MIRT2329061	hsa-miR-4756-3p	CLIP-seq
MIRT2329062	hsa-miR-4768-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2329063	hsa-miR-548g	CLIP-seq
MIRT2329064	hsa-miR-548m	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2329066	hsa-miR-623	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2329067	hsa-miR-758	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT2329068	hsa-miR-891b	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2394620	hsa-miR-3202	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT2394621	hsa-miR-4747-5p	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT2394622	hsa-miR-720	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623494	hsa-miR-1321	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623502	hsa-miR-4270	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2623505	hsa-miR-4419a	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2623506	hsa-miR-4441	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2623507	hsa-miR-4510	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623508	hsa-miR-4725-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2623510	hsa-miR-4728-5p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT2623511	hsa-miR-4739	CLIP-seq
MIRT2623512	hsa-miR-4756-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623514	hsa-miR-4786-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT2623516	hsa-miR-504	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005351	Function	Carbohydrate:proton symporter activity	TAS	10581036
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	3961501
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS	10581036
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10581036
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006820	Process	Monoatomic anion transport	TAS	10581036
GO:0006865	Process	Amino acid transport	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0015136	Function	Sialic acid transmembrane transporter activity	IBA
GO:0015136	Function	Sialic acid transmembrane transporter activity	IDA	10581036
GO:0015136	Function	Sialic acid transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015538	Function	Sialic acid:proton symporter activity	TAS
GO:0015739	Process	Sialic acid transport	IBA
GO:0015739	Process	Sialic acid transport	IDA	10581036
GO:0015739	Process	Sialic acid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10581036
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034219	Process	Carbohydrate transmembrane transport	IEA
GO:0042874	Process	D-glucuronate transmembrane transport	IEA
GO:0042880	Function	D-glucuronate transmembrane transporter activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 604322
• HGNC: 10933
• e!Ensembl: ENSG00000119899

Protein

• UniProt ID: Q9NRA2
• Protein name: Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular excitatory amino acid transporter) (VEAT)
• Protein function: Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254).
• PDB: 8DWI, 8U3D, 8U3E, 8U3F, 8U3G, 8U3H, 9AYB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	46 → 441	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues (PubMed:10581036, P
• Sequence:

  MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
  SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
  ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
  AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
  FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
  YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
  LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
  YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
  EVQNWALNDHHGHRH

• Sequence length: 495

Pathways

KEGG:

Lysosome

Reactome:

Sialic acid metabolism
Organic anion transporters
Defective SLC17A5 causes Salla disease (SD) and ISSD

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
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs146095590	RCV005900631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs146095590	RCV005900630	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intermediate severe Salla disease	Pathogenic	rs1057517028	RCV002509063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Salla disease	Likely pathogenic; Pathogenic	rs1304456183, rs745386414, rs1768947811, rs2150120881, rs2150120888, rs1562000876, rs753141230, rs777862172, rs2150099393, rs779548058, rs2150099218, rs2150099225, rs2150115214, rs755923873, rs779494716, rs1768174708, rs754150739, rs727504157, rs727504156, rs1768168686, rs2533510735, rs2533429370, rs2533429191, rs2533510621, rs2533429681, rs2533494568, rs2533511205, rs2533511497, rs2533450349, rs2533510907, rs2533429445, rs2533450732, rs794729653, rs1581971388, rs2533494547, rs80338794, rs119491109, rs119491110, rs1769303765, rs2533429418, rs1279505129, rs2533510673, rs1321115911, rs2533450214, rs753049782, rs1474077825, rs2533519850, rs2533491237, rs144074675, rs2533450798, rs386833995, rs1299876653, rs2533490979, rs2533429751, rs2533500157, rs2533520022, rs1192927951, rs2533491438, rs2533519854, rs1769129693, rs2533519945, rs2533429537, rs2533429691, rs1554163945, rs2533491152, rs2533429249, rs2533550442, rs2150128117, rs2533549900, rs80338795, rs1057516951, rs146095590, rs1057517111, rs1057517119, rs1057516910, rs1057516601, rs771156053, rs1057517028, rs1057516862, rs1057516419, rs1057516257, rs772039085, rs1057516528, rs1057516505, rs1057517269, rs1057516549, rs1064794334, rs769235753, rs201284672, rs868677428, rs1554162842, rs1554164078, rs1554162230, rs1440688652, rs1234745577, rs1554161865, rs1472109408, rs1554163878, rs1554164096, rs1554163958, rs1554164322, rs386833987, rs386833988, rs386833989, rs386833990, rs386833991, rs386833992, rs386833993, rs386833994, rs386833996, rs766036082, rs1768948534, rs1767805645, rs1769124033, rs1769984400, rs1769021763, rs1768947396	RCV001378755 RCV001389588 RCV001380527 RCV001386530 RCV001388359 RCV001385199 RCV003614086 RCV002539590 RCV001923199 RCV001867160 RCV001932091 RCV002013347 RCV002012026 RCV001907697 RCV001939569 RCV001972775 RCV001972541 RCV002006459 RCV001264451 RCV000588857 RCV002306680 RCV002306686 RCV002307975 RCV002308232 RCV002308358 RCV002308365 RCV002308380 RCV002309034 RCV002309230 RCV002309500 RCV002309521 RCV002307183 RCV002310172 RCV002604707 RCV000185578 RCV002751057 RCV002820214 RCV002823953 RCV000005967 RCV004566684 RCV002512816 RCV002837570 RCV002858469 RCV002975110 RCV003019267 RCV003037719 RCV005608907 RCV003331752 RCV003472757 RCV003472759 RCV003472760 RCV003472761 RCV003472762 RCV003472763 RCV003472764 RCV003472765 RCV003472766 RCV003472767 RCV003472768 RCV003472769 RCV003472770 RCV003472772 RCV003472773 RCV003505500 RCV003505921 RCV003506173 RCV003506695 RCV003504787 RCV003505719 RCV003613638 RCV003614634 RCV003614710 RCV003615195 RCV003881494 RCV004573603 RCV000020682 RCV000411919 RCV000409414 RCV000410715 RCV000409207 RCV000410279 RCV000409832 RCV000409422 RCV000412283 RCV000410694 RCV000410726 RCV000409833 RCV000409486 RCV000412121 RCV000410897 RCV000409761 RCV000412073 RCV001865447 RCV000496107 RCV000763561 RCV001865684 RCV000669078 RCV000666942 RCV000668821 RCV000672852 RCV000667777 RCV000674402 RCV000674986 RCV000674347 RCV000672269 RCV000671606 RCV000667375 RCV000673622 RCV001379556 RCV000798871 RCV000049964 RCV000049965 RCV000049966 RCV000049967 RCV000049968 RCV000049969 RCV000049970 RCV000049971 RCV000049972 RCV000049973 RCV001043461 RCV001260955 RCV001217002 RCV001217755 RCV001217247 RCV001234201 RCV001249651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialic acid storage disease, severe infantile type	Likely pathogenic; Pathogenic	rs1562000876, rs753141230, rs777862172, rs1304456183, rs755923873, rs1768174708, rs1277966688, rs727504157, rs727504156, rs1768168686, rs2533510735, rs2533429370, rs2533429191, rs2533510621, rs2533429681, rs2533494568, rs2533511205, rs2533511497, rs2533450349, rs2533510907, rs2533429445, rs2533450732, rs794729653, rs80338794, rs119491109, rs119491110, rs2533500576, rs144074675, rs2533490979, rs2533429751, rs1192927951, rs2533519854, rs2150128117, rs2533509681, rs80338795, rs146095590, rs771156053, rs1057517028, rs769235753, rs201284672, rs1234745577, rs1472109408, rs386833990, rs386833992, rs386833994, rs1768948534, rs1769021763, rs1768947396	RCV005038193 RCV001844397 RCV001844399 RCV005038374 RCV005032003 RCV005032013 RCV002273173 RCV005042300 RCV000005968 RCV002306680 RCV002306686 RCV002307975 RCV002308232 RCV002308358 RCV002308365 RCV002308380 RCV002309034 RCV002309230 RCV002309500 RCV002309521 RCV002307183 RCV002310172 RCV000185579 RCV000763563 RCV000005970 RCV000005971 RCV003154572 RCV005036819 RCV005036820 RCV005047614 RCV005036821 RCV005047615 RCV005036981 RCV003992111 RCV000763562 RCV000005969 RCV005044611 RCV005033917 RCV001332964 RCV000763561 RCV002272324 RCV005034277 RCV005047029 RCV005031537 RCV005031538 RCV000005973 RCV001090089 RCV002298911 RCV001249651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC17A5-related disorder	Likely pathogenic; Pathogenic	rs755923873, rs1767805645, rs1769021763	RCV004538684 RCV004528419 RCV004727019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enhanced S-cone syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypokalemia-hypomagnesemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	29593801		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	19352053	Associate	★☆☆☆☆ Found in Text Mining only
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1	Amelogenesis Imperfecta, X-Linked	BEFREE	28448618		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	27052956		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15718306, 19391036, 28809726		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28698780		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28673297		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17088950, 31666542		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	30847869	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17537161		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17088950, 31666542		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29551296		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	6137197	Associate	★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	38013276	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17589939, 28606415, 34582677, 37904480	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23613855, 29776350	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33631962	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27990791, 28577233, 29873257		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33563221	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	31679942		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31007805		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	29385683		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30708047		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	25518532	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28267673, 30967781		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	31430816		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17088950, 28487598		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17088950, 22200425, 26408929, 27701177, 27960172, 27990791, 28573386, 28608457, 28741050, 29283413, 29451181, 30208594, 30732506, 31001934, 31627462, 31666542		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11099895, 1916663, 26219830, 28448618, 29330728, 29630460, 31027143, 31495535, 31566575, 31636735		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25319833		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33507690	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	20836578, 21293110, 27559949, 29803661		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	19352053	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31099265		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30903544		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28732565		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36367831	Associate	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	27877087	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	27555301	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31002699		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	28951071	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27829341		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	19557856, 20101035	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31062618		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31443670		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	31443670	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	16715535		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22060887, 28809726, 29213335, 30075987, 31409405		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22060887, 28809726, 29213335, 30075987, 31409405		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23683663	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29621783	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31040092, 38232082	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31088856	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23891824, 28985731, 29936075, 30117761, 30495974, 30913011, 31001934, 31088856		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31001934		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	38232082	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	11015403	Stimulate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	30453810		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	11015403	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	31443670	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	27260124	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28859934, 31190566, 31671940		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	26114447		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	26114447		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	26114447		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	26114447		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	24583247		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	30107378		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor vii deficiency	Pubtator	20499337	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	17032413, 28179090, 28448552, 28839246, 29735791, 30296610, 30823422, 31375753, 31429848, 31511022		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	23558709	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	23580007, 33563221	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	34609305	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	17659580, 28264426, 29098545, 29107284, 29735799, 30006517, 30537674, 30579258, 30668625, 30825110		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	28817659		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25063290, 26003758, 28398960, 28425016, 28765697, 28811008, 29887908, 30090581, 30122312, 30298608, 30379089, 30447648, 30578670, 30665287, 30690636, 31054980, 31131678, 31137784, 31183386, 31428186, 31737583		★☆☆☆☆ Found in Text Mining only
Free sialic acid storage disease, infantile form	Free Sialic Acid Storage Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	36052305	Associate	★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	22252961		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28662915		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen Storage Disease	BEFREE	28951071		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	22252961		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	28951071	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type III	Glycogen storage disease	Pubtator	32772503	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30903544		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	30777375		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19103527, 26899506, 28606415	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33506937, 35505682	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	29375210, 37065191	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24709894, 37973687	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	32089410, 33244199	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	17461475	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31838773		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	10546100		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	34667062	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	23183526, 29982870		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30885145		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	BEFREE	30050955		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27917453, 29132096, 29525628, 30213010		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28770537, 29740235		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31040092	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27260124	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	38018549	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	25651489	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25542269, 30535909		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	29034746		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	30243016		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30785896		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27829341		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	GENOMICS_ENGLAND_DG	10546100, 10581036, 27604308		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	BEFREE	10581036, 10947946, 12121352, 12359136, 12794688, 15172001, 16170568, 21781115, 30243016		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	CLINVAR_DG	10581036, 15805149		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	UNIPROT_DG	10581036, 10947946		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17967187	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	40225164	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intermediate severe Salla disease	Salla Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	33225888	Stimulate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29176318		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	35895739	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28303172		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28673017, 31014150		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11867951, 17387602, 9296539		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17088950, 17387602, 21832251, 28487598, 29451181		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	25542269, 25703086, 27350411, 28221861, 28754141		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17589939, 19950230, 23291409, 26261589, 26918346, 28261604, 28693887, 29221172, 29963243, 30327251, 30356380, 31027143		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11099895, 1916663, 26219830, 28448618, 29330728, 29630460, 30296610, 31027143, 31495535, 31566575, 31636735		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	39414159	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	1916663		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	20797317, 24064641, 33563221	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27555301, 28809726	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	21663607, 23580007, 29925683, 35841410, 36052305, 36555467	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23683663	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29253766		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	30528233, 31838773		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30356380		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	39908093	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	27350411, 27917453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30296610		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16467868, 25942451		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25319833		★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	31836396		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	28562667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	31062618		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31190566		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28265826, 31678575		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	30940196	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	38114939	Stimulate	★☆☆☆☆ Found in Text Mining only
Mulibrey Nanism	Mulibrey nanism	Pubtator	35220664	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38205814	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	26063958	Stimulate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19380029		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	25728713		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	31679942		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15718306, 25319833, 28643457, 28673297, 28693887, 28843857, 31293092, 31355220, 31495535		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36662855	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16170568		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	25542269, 25703086, 27350411, 28221861, 28754141		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	27877087	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	22182810, 24488901, 25156535, 25837920, 28572039, 28914448, 28918170, 29311392, 29652564, 29873257, 29964102, 30111756, 30269815, 30430908, 30446932, 30683312, 30711017, 30836637, 30915371, 31088856, 31545283, 31737583		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31355220		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31054980		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18395076	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28918170, 30134916, 30671426, 31133501, 31636807		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	20499337	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	31701853		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29140481	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	17179515		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	31220694		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29916054, 30107378		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27829341		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	31131678, 31651664		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33507690	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	17659580		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27930978		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	11867951		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31001934		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30379089		★☆☆☆☆ Found in Text Mining only
Salla disease	Salla Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures	Seizures	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	29925683	Associate	★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	10581036, 10947946, 12121352, 12359136, 15172001, 16158439, 16170568, 19557856, 21781115, 28187749, 28662915, 31694657		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	CLINVAR_DG	10581036, 10947946, 11992753, 12359136, 12592494, 12637289, 12709150, 12794688, 15172001, 15510212, 15516337, 15805149, 16170568, 16715535, 18695252, 19557856, 20101035, 21781115, 23900835, 24767253, 24993898, 25085675, 25525159, 27848944, 28662915		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	GENOMICS_ENGLAND_DG	10581036, 27604308		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	UNIPROT_DG	10581036, 10947946, 12794687, 21781115		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	BEFREE	10581036, 10947946, 12121352, 12359136, 15172001, 16158439, 16170568, 19557856, 21781115, 28187749, 28662915, 31694657		★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27614004		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28659162		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25280969		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17032413, 17659580, 28086800, 28179090, 28274625, 28448552, 28839246, 29735791, 30296610, 30445307, 30823422, 30825110, 30841472, 31375753, 31429848, 31511022		★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	30643535		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	20044930	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	28958948		★☆☆☆☆ Found in Text Mining only
Vipoma	Vipoma	Pubtator	11015403	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29735791		★☆☆☆☆ Found in Text Mining only