ARSA (arylsulfatase A)

Gene

• Entrez ID: 410
• Gene name: Arylsulfatase A
• Gene symbol: ARSA
• Synonyms (NCBI Gene): ASA, MLD
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultima

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6151414	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs6151429	T>C	Benign, pathogenic, benign-likely-benign, other	3 prime UTR variant
rs28940893	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs28940894	T>G	Pathogenic	Coding sequence variant, missense variant
rs28940895	G>A	Pathogenic	Coding sequence variant, missense variant
rs74315270	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs74315455	C>A,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs74315457	A>C	Pathogenic	Coding sequence variant, missense variant
rs74315458	C>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs74315459	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs74315460	C>T	Pathogenic	Coding sequence variant, missense variant
rs74315461	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs74315462	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs74315463	C>T	Pathogenic	Coding sequence variant, missense variant
rs74315464	G>A,C	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs74315465	G>C	Pathogenic	Coding sequence variant, missense variant
rs74315466	C>A,T	Uncertain-significance, likely-benign, pathogenic	Coding sequence variant, missense variant
rs74315467	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs74315468	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs74315469	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs74315470	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs74315471	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs74315472	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs74315473	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs74315474	G>T	Pathogenic	Coding sequence variant, missense variant
rs74315475	T>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs74315476	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs74315477	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs74315478	G>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs74315479	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs74315480	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs74315481	G>A	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs74315482	G>A	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs74315483	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs74315484	C>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs74315485	G>A,T	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs80338815	C>T	Pathogenic	Splice donor variant
rs80338819	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs80338820	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant, splice donor variant
rs80338823	ACAGCTGCGTC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs121434215	A>G	Pathogenic	Coding sequence variant, missense variant
rs148092995	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs148352371	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, stop gained, missense variant
rs199476345	T>C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199476349	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199476352	G>A	Pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant
rs199476355	C>T	Pathogenic-likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199476356	C>A,T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199476359	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs199476366	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199476371	GA>AG	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199476382	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs199476384	A>G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199476389	A>G	Pathogenic	Coding sequence variant, missense variant
rs199476390	C>A,T	Not-provided, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs199476391	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs370250328	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123411	T>C	Pathogenic	Intron variant, splice acceptor variant
rs398123412	GA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398123413	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs398123414	G>-	Pathogenic, pathogenic-likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs398123415	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398123416	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123418	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs398123419	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs527640350	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs551472773	G>A,C,T	Pathogenic, benign	Stop gained, missense variant, synonymous variant, coding sequence variant
rs745884435	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs750030142	C>-,CC	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs753415648	GGTCCCCA>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs754722529	C>A,T	Likely-pathogenic	Splice donor variant
rs755635209	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, stop gained
rs761555167	->G	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs761606317	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs761860059	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs762284875	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs763880042	C>A,G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs765905826	GTATCACTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs767751622	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs768028181	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs769152137	T>G	Likely-pathogenic	Splice acceptor variant
rs769892461	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs774153480	GGG>-,GG,GGGG,GGGGGGG	Uncertain-significance, likely-pathogenic, pathogenic	Inframe deletion, 3 prime UTR variant, coding sequence variant, frameshift variant
rs776748338	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786200965	TTGCCG>CCCAAGGTT	Uncertain-significance, likely-pathogenic	Inframe indel, coding sequence variant
rs786204599	->G	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs786204673	G>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041911	C>A	Pathogenic	Splice donor variant
rs1057516288	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057516373	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516595	->TA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1057516638	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516730	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516887	ACCG>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1057516907	G>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517036	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1057517044	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517073	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517237	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1057517346	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517429	CCGGCGG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1085308016	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401754	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1135401755	G>C	Pathogenic	Coding sequence variant, missense variant
rs1135401756	A>T	Pathogenic	Coding sequence variant, missense variant
rs1135401757	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1227301119	->TG	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1375757476	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555900150	G>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs1555900191	TATCACTGTGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555900463	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555900623	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555900678	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555900900	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555900989	A>T	Likely-pathogenic	Splice donor variant
rs1555901056	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555901083	T>C	Likely-pathogenic	Splice acceptor variant
rs1555901108	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555901112	GAGA>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555901170	A>G	Likely-pathogenic	Intron variant, initiator codon variant, missense variant
rs1569077723	AAG>-	Pathogenic	Inframe deletion, intron variant, coding sequence variant
rs1569081823	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1603444908	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603445003	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1603445026	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018147	hsa-miR-335-5p	Microarray	18185580
MIRT610868	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT610867	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT610866	hsa-miR-940	HITS-CLIP	23824327
MIRT610865	hsa-miR-3929	HITS-CLIP	23824327
MIRT610864	hsa-miR-4419b	HITS-CLIP	23824327
MIRT610863	hsa-miR-4478	HITS-CLIP	23824327
MIRT610862	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT610861	hsa-miR-1321	HITS-CLIP	23824327
MIRT610860	hsa-miR-4739	HITS-CLIP	23824327
MIRT610859	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT610858	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT610857	hsa-miR-4308	HITS-CLIP	23824327
MIRT610856	hsa-miR-4292	HITS-CLIP	23824327
MIRT610855	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT610854	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT610853	hsa-miR-1827	HITS-CLIP	23824327
MIRT610852	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT610851	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT610850	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT610849	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT610848	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT610847	hsa-miR-665	HITS-CLIP	23824327
MIRT610868	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT610867	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT610866	hsa-miR-940	HITS-CLIP	23824327
MIRT610865	hsa-miR-3929	HITS-CLIP	23824327
MIRT610864	hsa-miR-4419b	HITS-CLIP	23824327
MIRT610863	hsa-miR-4478	HITS-CLIP	23824327
MIRT610862	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT610861	hsa-miR-1321	HITS-CLIP	23824327
MIRT610860	hsa-miR-4739	HITS-CLIP	23824327
MIRT610859	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT610858	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT610857	hsa-miR-4308	HITS-CLIP	23824327
MIRT610856	hsa-miR-4292	HITS-CLIP	23824327
MIRT610855	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT610854	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT610853	hsa-miR-1827	HITS-CLIP	23824327
MIRT610852	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT610851	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT610850	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT610849	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT610848	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT610847	hsa-miR-665	HITS-CLIP	23824327
MIRT610868	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT610867	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT610866	hsa-miR-940	HITS-CLIP	23824327
MIRT610865	hsa-miR-3929	HITS-CLIP	23824327
MIRT610864	hsa-miR-4419b	HITS-CLIP	23824327
MIRT610863	hsa-miR-4478	HITS-CLIP	23824327
MIRT610862	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT610861	hsa-miR-1321	HITS-CLIP	23824327
MIRT610860	hsa-miR-4739	HITS-CLIP	23824327
MIRT610859	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT610858	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT610857	hsa-miR-4308	HITS-CLIP	23824327
MIRT610856	hsa-miR-4292	HITS-CLIP	23824327
MIRT610855	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT610854	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT610853	hsa-miR-1827	HITS-CLIP	23824327
MIRT610852	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT610851	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT610850	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT610849	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT610848	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT610847	hsa-miR-665	HITS-CLIP	23824327
MIRT610868	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT610867	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT610866	hsa-miR-940	HITS-CLIP	23824327
MIRT610865	hsa-miR-3929	HITS-CLIP	23824327
MIRT610864	hsa-miR-4419b	HITS-CLIP	23824327
MIRT610863	hsa-miR-4478	HITS-CLIP	23824327
MIRT610862	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT610861	hsa-miR-1321	HITS-CLIP	23824327
MIRT610860	hsa-miR-4739	HITS-CLIP	23824327
MIRT610859	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT610858	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT610857	hsa-miR-4308	HITS-CLIP	23824327
MIRT610856	hsa-miR-4292	HITS-CLIP	23824327
MIRT610855	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT610854	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT610853	hsa-miR-1827	HITS-CLIP	23824327
MIRT610852	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT610851	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT610850	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT610849	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT610848	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT610847	hsa-miR-665	HITS-CLIP	23824327
MIRT801026	hsa-miR-106a	CLIP-seq
MIRT801027	hsa-miR-106b	CLIP-seq
MIRT801028	hsa-miR-122	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT801031	hsa-miR-1285	CLIP-seq
MIRT801032	hsa-miR-1324	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT801034	hsa-miR-17	CLIP-seq
MIRT801035	hsa-miR-20a	CLIP-seq
MIRT801036	hsa-miR-20b	CLIP-seq
MIRT801037	hsa-miR-302a	CLIP-seq
MIRT801038	hsa-miR-302b	CLIP-seq
MIRT801039	hsa-miR-302c	CLIP-seq
MIRT801040	hsa-miR-302d	CLIP-seq
MIRT801041	hsa-miR-302e	CLIP-seq
MIRT801042	hsa-miR-3149	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801045	hsa-miR-3165	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801047	hsa-miR-3187-3p	CLIP-seq
MIRT801048	hsa-miR-3187-5p	CLIP-seq
MIRT801049	hsa-miR-3197	CLIP-seq
MIRT801050	hsa-miR-323-5p	CLIP-seq
MIRT801051	hsa-miR-329	CLIP-seq
MIRT801052	hsa-miR-3609	CLIP-seq
MIRT801053	hsa-miR-3622a-3p	CLIP-seq
MIRT801054	hsa-miR-3622b-3p	CLIP-seq
MIRT801055	hsa-miR-3622b-5p	CLIP-seq
MIRT801056	hsa-miR-362-3p	CLIP-seq
MIRT801057	hsa-miR-3656	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801059	hsa-miR-3672	CLIP-seq
MIRT801060	hsa-miR-372	CLIP-seq
MIRT801061	hsa-miR-373	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801063	hsa-miR-3945	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT801065	hsa-miR-4253	CLIP-seq
MIRT801066	hsa-miR-4433	CLIP-seq
MIRT801067	hsa-miR-4435	CLIP-seq
MIRT801068	hsa-miR-4459	CLIP-seq
MIRT801069	hsa-miR-4701-5p	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801071	hsa-miR-4731-5p	CLIP-seq
MIRT801072	hsa-miR-4735-5p	CLIP-seq
MIRT801073	hsa-miR-4775	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801075	hsa-miR-4786-5p	CLIP-seq
MIRT801076	hsa-miR-4796-3p	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801078	hsa-miR-512-3p	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801080	hsa-miR-516a-3p	CLIP-seq
MIRT801081	hsa-miR-519d	CLIP-seq
MIRT801082	hsa-miR-520a-3p	CLIP-seq
MIRT801083	hsa-miR-520b	CLIP-seq
MIRT801084	hsa-miR-520c-3p	CLIP-seq
MIRT801085	hsa-miR-520d-3p	CLIP-seq
MIRT801086	hsa-miR-520e	CLIP-seq
MIRT801087	hsa-miR-544b	CLIP-seq
MIRT801088	hsa-miR-548ah	CLIP-seq
MIRT801089	hsa-miR-548s	CLIP-seq
MIRT801090	hsa-miR-588	CLIP-seq
MIRT801091	hsa-miR-590-3p	CLIP-seq
MIRT801092	hsa-miR-612	CLIP-seq
MIRT801093	hsa-miR-769-5p	CLIP-seq
MIRT801094	hsa-miR-876-3p	CLIP-seq
MIRT801095	hsa-miR-885-3p	CLIP-seq
MIRT801096	hsa-miR-93	CLIP-seq
MIRT801097	hsa-miR-1208	CLIP-seq
MIRT801098	hsa-miR-1227	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT801099	hsa-miR-1238	CLIP-seq
MIRT801031	hsa-miR-1285	CLIP-seq
MIRT801100	hsa-miR-1290	CLIP-seq
MIRT801101	hsa-miR-1298	CLIP-seq
MIRT801102	hsa-miR-134	CLIP-seq
MIRT801103	hsa-miR-193a-3p	CLIP-seq
MIRT801104	hsa-miR-193b	CLIP-seq
MIRT801105	hsa-miR-2861	CLIP-seq
MIRT801106	hsa-miR-3118	CLIP-seq
MIRT801107	hsa-miR-3122	CLIP-seq
MIRT801108	hsa-miR-3130-3p	CLIP-seq
MIRT801109	hsa-miR-3164	CLIP-seq
MIRT801110	hsa-miR-3167	CLIP-seq
MIRT801111	hsa-miR-3183	CLIP-seq
MIRT801048	hsa-miR-3187-5p	CLIP-seq
MIRT801049	hsa-miR-3197	CLIP-seq
MIRT801050	hsa-miR-323-5p	CLIP-seq
MIRT801051	hsa-miR-329	CLIP-seq
MIRT801055	hsa-miR-3622b-5p	CLIP-seq
MIRT801056	hsa-miR-362-3p	CLIP-seq
MIRT801112	hsa-miR-3689a-3p	CLIP-seq
MIRT801113	hsa-miR-3689c	CLIP-seq
MIRT801114	hsa-miR-377	CLIP-seq
MIRT801115	hsa-miR-3913-5p	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801116	hsa-miR-3936	CLIP-seq
MIRT801063	hsa-miR-3945	CLIP-seq
MIRT801065	hsa-miR-4253	CLIP-seq
MIRT801117	hsa-miR-4302	CLIP-seq
MIRT801118	hsa-miR-4328	CLIP-seq
MIRT801067	hsa-miR-4435	CLIP-seq
MIRT801119	hsa-miR-4659a-5p	CLIP-seq
MIRT801120	hsa-miR-4659b-5p	CLIP-seq
MIRT801121	hsa-miR-4697-3p	CLIP-seq
MIRT801069	hsa-miR-4701-5p	CLIP-seq
MIRT801122	hsa-miR-4723-3p	CLIP-seq
MIRT801123	hsa-miR-4728-5p	CLIP-seq
MIRT801124	hsa-miR-4793-3p	CLIP-seq
MIRT801090	hsa-miR-588	CLIP-seq
MIRT801092	hsa-miR-612	CLIP-seq
MIRT801125	hsa-miR-648	CLIP-seq
MIRT801094	hsa-miR-876-3p	CLIP-seq
MIRT801126	hsa-miR-876-5p	CLIP-seq
MIRT801095	hsa-miR-885-3p	CLIP-seq
MIRT801127	hsa-miR-125a-3p	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801128	hsa-miR-3613-3p	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801129	hsa-miR-371b-5p	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801130	hsa-miR-640	CLIP-seq
MIRT801131	hsa-miR-764	CLIP-seq
MIRT801132	hsa-miR-105	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT801127	hsa-miR-125a-3p	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT801133	hsa-miR-1291	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT801042	hsa-miR-3149	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801134	hsa-miR-3176	CLIP-seq
MIRT801135	hsa-miR-3182	CLIP-seq
MIRT801047	hsa-miR-3187-3p	CLIP-seq
MIRT801050	hsa-miR-323-5p	CLIP-seq
MIRT801136	hsa-miR-328	CLIP-seq
MIRT801137	hsa-miR-342-3p	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801114	hsa-miR-377	CLIP-seq
MIRT801138	hsa-miR-3922-3p	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT801067	hsa-miR-4435	CLIP-seq
MIRT801069	hsa-miR-4701-5p	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801072	hsa-miR-4735-5p	CLIP-seq
MIRT801073	hsa-miR-4775	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801139	hsa-miR-4794	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801089	hsa-miR-548s	CLIP-seq
MIRT801090	hsa-miR-588	CLIP-seq
MIRT801091	hsa-miR-590-3p	CLIP-seq
MIRT801140	hsa-miR-627	CLIP-seq
MIRT801130	hsa-miR-640	CLIP-seq
MIRT801131	hsa-miR-764	CLIP-seq
MIRT801094	hsa-miR-876-3p	CLIP-seq
MIRT801141	hsa-miR-924	CLIP-seq
MIRT801127	hsa-miR-125a-3p	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801130	hsa-miR-640	CLIP-seq
MIRT801131	hsa-miR-764	CLIP-seq
MIRT801127	hsa-miR-125a-3p	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801062	hsa-miR-3934	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801130	hsa-miR-640	CLIP-seq
MIRT801131	hsa-miR-764	CLIP-seq
MIRT1936543	hsa-miR-1307	CLIP-seq
MIRT1936544	hsa-miR-4726-3p	CLIP-seq
MIRT801028	hsa-miR-122	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT1936543	hsa-miR-1307	CLIP-seq
MIRT2176313	hsa-miR-130a	CLIP-seq
MIRT2176314	hsa-miR-130b	CLIP-seq
MIRT801033	hsa-miR-136	CLIP-seq
MIRT2176315	hsa-miR-301a	CLIP-seq
MIRT2176316	hsa-miR-301b	CLIP-seq
MIRT801107	hsa-miR-3122	CLIP-seq
MIRT801042	hsa-miR-3149	CLIP-seq
MIRT801043	hsa-miR-3155	CLIP-seq
MIRT801044	hsa-miR-3155b	CLIP-seq
MIRT801045	hsa-miR-3165	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801049	hsa-miR-3197	CLIP-seq
MIRT801051	hsa-miR-329	CLIP-seq
MIRT801128	hsa-miR-3613-3p	CLIP-seq
MIRT801053	hsa-miR-3622a-3p	CLIP-seq
MIRT801054	hsa-miR-3622b-3p	CLIP-seq
MIRT801056	hsa-miR-362-3p	CLIP-seq
MIRT801057	hsa-miR-3656	CLIP-seq
MIRT801058	hsa-miR-3663-5p	CLIP-seq
MIRT801059	hsa-miR-3672	CLIP-seq
MIRT801112	hsa-miR-3689a-3p	CLIP-seq
MIRT801113	hsa-miR-3689c	CLIP-seq
MIRT2176317	hsa-miR-371-5p	CLIP-seq
MIRT801129	hsa-miR-371b-5p	CLIP-seq
MIRT801115	hsa-miR-3913-5p	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT2176318	hsa-miR-4267	CLIP-seq
MIRT2176319	hsa-miR-4284	CLIP-seq
MIRT2176320	hsa-miR-4423-5p	CLIP-seq
MIRT801066	hsa-miR-4433	CLIP-seq
MIRT801068	hsa-miR-4459	CLIP-seq
MIRT2176321	hsa-miR-454	CLIP-seq
MIRT2176322	hsa-miR-4703-3p	CLIP-seq
MIRT801070	hsa-miR-4716-5p	CLIP-seq
MIRT801123	hsa-miR-4728-5p	CLIP-seq
MIRT2176323	hsa-miR-4762-5p	CLIP-seq
MIRT2176324	hsa-miR-4772-3p	CLIP-seq
MIRT801074	hsa-miR-4781-3p	CLIP-seq
MIRT801075	hsa-miR-4786-5p	CLIP-seq
MIRT801077	hsa-miR-484	CLIP-seq
MIRT801079	hsa-miR-515-5p	CLIP-seq
MIRT801087	hsa-miR-544b	CLIP-seq
MIRT2176325	hsa-miR-576-3p	CLIP-seq
MIRT2176326	hsa-miR-675	CLIP-seq
MIRT801093	hsa-miR-769-5p	CLIP-seq
MIRT801128	hsa-miR-3613-3p	CLIP-seq
MIRT2176317	hsa-miR-371-5p	CLIP-seq
MIRT801129	hsa-miR-371b-5p	CLIP-seq
MIRT801028	hsa-miR-122	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT2444028	hsa-miR-1251	CLIP-seq
MIRT2444029	hsa-miR-1273	CLIP-seq
MIRT801030	hsa-miR-1273f	CLIP-seq
MIRT1936543	hsa-miR-1307	CLIP-seq
MIRT2176313	hsa-miR-130a	CLIP-seq
MIRT2176314	hsa-miR-130b	CLIP-seq
MIRT2176315	hsa-miR-301a	CLIP-seq
MIRT2176316	hsa-miR-301b	CLIP-seq
MIRT801107	hsa-miR-3122	CLIP-seq
MIRT801042	hsa-miR-3149	CLIP-seq
MIRT801045	hsa-miR-3165	CLIP-seq
MIRT801046	hsa-miR-3170	CLIP-seq
MIRT801049	hsa-miR-3197	CLIP-seq
MIRT801053	hsa-miR-3622a-3p	CLIP-seq
MIRT801054	hsa-miR-3622b-3p	CLIP-seq
MIRT801057	hsa-miR-3656	CLIP-seq
MIRT801059	hsa-miR-3672	CLIP-seq
MIRT801112	hsa-miR-3689a-3p	CLIP-seq
MIRT801113	hsa-miR-3689c	CLIP-seq
MIRT801115	hsa-miR-3913-5p	CLIP-seq
MIRT801064	hsa-miR-411	CLIP-seq
MIRT2444030	hsa-miR-4293	CLIP-seq
MIRT2176320	hsa-miR-4423-5p	CLIP-seq
MIRT801066	hsa-miR-4433	CLIP-seq
MIRT801068	hsa-miR-4459	CLIP-seq
MIRT2444031	hsa-miR-4486	CLIP-seq
MIRT2176321	hsa-miR-454	CLIP-seq
MIRT2444032	hsa-miR-4649-5p	CLIP-seq
MIRT801123	hsa-miR-4728-5p	CLIP-seq
MIRT801072	hsa-miR-4735-5p	CLIP-seq
MIRT801073	hsa-miR-4775	CLIP-seq
MIRT801075	hsa-miR-4786-5p	CLIP-seq
MIRT801124	hsa-miR-4793-3p	CLIP-seq
MIRT801139	hsa-miR-4794	CLIP-seq
MIRT801087	hsa-miR-544b	CLIP-seq
MIRT801091	hsa-miR-590-3p	CLIP-seq
MIRT2444033	hsa-miR-596	CLIP-seq
MIRT2444034	hsa-miR-661	CLIP-seq
MIRT2176326	hsa-miR-675	CLIP-seq
MIRT801093	hsa-miR-769-5p	CLIP-seq
MIRT801028	hsa-miR-122	CLIP-seq
MIRT801029	hsa-miR-1228	CLIP-seq
MIRT2444028	hsa-miR-1251	CLIP-seq
MIRT2444029	hsa-miR-1273	CLIP-seq
MIRT1936543	hsa-miR-1307	CLIP-seq
MIRT2176313	hsa-miR-130a	CLIP-seq
MIRT2176314	hsa-miR-130b	CLIP-seq
MIRT2176315	hsa-miR-301a	CLIP-seq
MIRT2176316	hsa-miR-301b	CLIP-seq
MIRT801107	hsa-miR-3122	CLIP-seq
MIRT801045	hsa-miR-3165	CLIP-seq
MIRT801049	hsa-miR-3197	CLIP-seq
MIRT801053	hsa-miR-3622a-3p	CLIP-seq
MIRT801054	hsa-miR-3622b-3p	CLIP-seq
MIRT801057	hsa-miR-3656	CLIP-seq
MIRT801059	hsa-miR-3672	CLIP-seq
MIRT801112	hsa-miR-3689a-3p	CLIP-seq
MIRT801113	hsa-miR-3689c	CLIP-seq
MIRT801115	hsa-miR-3913-5p	CLIP-seq
MIRT2479559	hsa-miR-3926	CLIP-seq
MIRT2176319	hsa-miR-4284	CLIP-seq
MIRT2444030	hsa-miR-4293	CLIP-seq
MIRT2176320	hsa-miR-4423-5p	CLIP-seq
MIRT801066	hsa-miR-4433	CLIP-seq
MIRT801068	hsa-miR-4459	CLIP-seq
MIRT2444031	hsa-miR-4486	CLIP-seq
MIRT2176321	hsa-miR-454	CLIP-seq
MIRT2444032	hsa-miR-4649-5p	CLIP-seq
MIRT801123	hsa-miR-4728-5p	CLIP-seq
MIRT2176324	hsa-miR-4772-3p	CLIP-seq
MIRT801075	hsa-miR-4786-5p	CLIP-seq
MIRT801124	hsa-miR-4793-3p	CLIP-seq
MIRT801087	hsa-miR-544b	CLIP-seq
MIRT801089	hsa-miR-548s	CLIP-seq
MIRT2444033	hsa-miR-596	CLIP-seq
MIRT2444034	hsa-miR-661	CLIP-seq
MIRT2176326	hsa-miR-675	CLIP-seq
MIRT801093	hsa-miR-769-5p	CLIP-seq
MIRT801129	hsa-miR-371b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004065	Function	Arylsulfatase activity	TAS	2562955
GO:0004098	Function	Cerebroside-sulfatase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	12888274
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 26871637, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	2562955
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008484	Function	Sulfuric ester hydrolase activity	IDA	15962010
GO:0016787	Function	Hydrolase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 607574
• HGNC: 713
• e!Ensembl: ENSG00000100299

Protein

• UniProt ID: P15289
• Protein name: Arylsulfatase A (ASA) (EC 3.1.6.8) (Cerebroside-sulfatase) [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]
• Protein function: Hydrolyzes cerebroside sulfate.
• PDB: 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK, 2HI8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	21 → 346	Sulfatase	Family
  PF14707	Sulfatase_C	368 → 502		Domain

• Sequence:

  MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFT
  DFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGM
  AGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIP
  LLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAE
  RSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRC
  GKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSP
  LLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSL
  TAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARG
  EDPALQICCHPGCTPRPACCHCPDPHA

• Sequence length: 507

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Lysosome

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases
Neutrophil degranulation

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
Acute myeloid leukemia	Pathogenic	rs80338815	RCV005887233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARSA-related disorder	Likely pathogenic; Pathogenic	rs755974448, rs80338815, rs28940893, rs74315472, rs28940894, rs2518321662, rs768028181, rs199476355, rs199476373	RCV003395277 RCV003934795 RCV004755702 RCV003904799 RCV004755703 RCV003418614 RCV004755833 RCV003905027 RCV003898047	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARYLSULFATASE A PSEUDODEFICIENCY	Pathogenic	rs74315464, rs148092995, rs74315482	RCV000003213 RCV000003225 RCV000003234	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE	Likely pathogenic; Pathogenic	rs74315479	RCV000003230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE	Pathogenic	rs74315478	RCV000003229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs74315478	RCV005931561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Pathogenic	rs199476352	RCV001090098	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs80338815, rs28940893	RCV001251910 RCV001251909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Pathogenic	rs74315475	RCV000414806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs146371968	RCV005913624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs80338815	RCV005887234	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metachromatic leukodystrophy	Pathogenic; Likely pathogenic	rs753872402, rs748583298, rs777431148, rs1410632651, rs2146718906, rs1490196552, rs2082680996, rs2146716979, rs867538940, rs1430695346, rs2146717660, rs1383481612, rs1555901112, rs1313802305, rs199476384, rs2146716641, rs2082676249, rs2146728318, rs2146717905, rs748876604, rs1569081077, rs74315461, rs2146726223, rs2146716603, rs780399417, rs757891932, rs2146725299, rs563053401, rs2146723372, rs2082698834, rs1555901108, rs2146727518, rs769492279, rs199476365, rs752206330, rs2146723107, rs1209071029, rs919125796, rs140966324, rs2082692417, rs551472773, rs1394861740, rs1227301119, rs755974448, rs2146717919, rs2146718041, rs2146716994, rs1190061000, rs2518322313, rs2518326035, rs2518327296, rs2518329977, rs2518331282, rs2518331715, rs80338815, rs28940893, rs74315455, rs74315456, rs74315457, rs80338820, rs74315460, rs74315462, rs74315463, rs74315467, rs74315470, rs74315471, rs74315472, rs74315473, rs74315474, rs74315475, rs74315476, rs74315477, rs74315478, rs74315479, rs1569077723, rs74315481, rs28940894, rs74315483, rs28940895, rs1276584787, rs747725187, rs60504011, rs774153480, rs765905826, rs754722529, rs786204673, rs786204599, rs372250391, rs779702635, rs781625939, rs2518333422, rs80338823, rs1013216151, rs1085308016, rs2518334400, rs769892461, rs2082692831, rs557527090, rs965484858, rs2518321662, rs6151411, rs2518336953, rs2518325834, rs2518324057, rs2518322373, rs2518326786, rs1344892313, rs1569082469, rs2518322020, rs138468395, rs2518333469, rs2518332484, rs1238459356, rs2518329600, rs2518333795, rs2518330963, rs759098239, rs2518326922, rs768028181, rs886041911, rs761860059, rs2518333855, rs2518327424, rs74315459, rs199476355, rs2518329837, rs2518321498, rs762593908, rs867061766, rs2518334198, rs2518329660, rs2518326252, rs2518326996, rs2518323495, rs2518322494, rs2518322092, rs760271887, rs2518327103, rs1569082621, rs199476389, rs764737103, rs2518334049, rs2518321342, rs2518336823, rs2518332037, rs2146726825, rs2518327153, rs375493957, rs1421448666, rs763190974, rs74315480, rs748753862, rs199476352, rs749426428, rs74315271, rs1391709910, rs2518336818, rs80338819, rs2518329356, rs74315458, rs2082680103, rs1057517237, rs1057517036, rs1057516887, rs1057516638, rs1057517073, rs1057516373, rs1057516907, rs762284875, rs1057517429, rs1057517346, rs1057517044, rs745884435, rs1057516595, rs1057516288, rs148092995, rs755635209, rs761606317, rs1135401757, rs1135401756, rs527640350, rs1135401755, rs763880042, rs1135401754, rs750030142, rs1375757476, rs1555900849, rs761555167, rs1001100248, rs1555900678, rs74315270, rs1555900900, rs753415648, rs1555900191, rs1555901056, rs1555900463, rs769152137, rs1555900623, rs1555901083, rs1555900150, rs776748338, rs1555900989, rs1555901170, rs199476375, rs1569081823, rs1603444908, rs1603445026, rs2082644196, rs2082663514, rs751026400, rs2082689435, rs2082690324, rs2082676596, rs199476391, rs199476376, rs199476392, rs199476380, rs199476388, rs199476351, rs199476358, rs199476373, rs199476345, rs199476341, rs199476366, rs199476342, rs199476349, rs199476347, rs199476343, rs199476359, rs199476379, rs199476360, rs199476356, rs199476382, rs74315468, rs2082657747, rs1188592346, rs754898479, rs2082684340, rs146371968, rs2082687168, rs148352371, rs2082646919, rs2082697802, rs1222719732, rs74315484, rs973061258, rs1175674325, rs398123412, rs2082658031, rs2082673250, rs2082689270, rs2082647866, rs398123411, rs398123414, rs398123415, rs398123416, rs398123418, rs398123419	RCV001345265 RCV001379881 RCV001376979 RCV001377180 RCV001382884 RCV001380268 RCV001420189 RCV001532933 RCV003388025 RCV001580606 RCV001733823 RCV001775249 RCV001784817 RCV001785963 RCV001806304 RCV001824209 RCV001991704 RCV002032009 RCV001994511 RCV001961325 RCV001917446 RCV002016655 RCV001950830 RCV001995345 RCV001916815 RCV001929090 RCV001995439 RCV002009219 RCV001999993 RCV001931749 RCV002004843 RCV002011795 RCV002031058 RCV001920712 RCV001920743 RCV001941577 RCV002025304 RCV001888514 RCV001953645 RCV001951431 RCV002029692 RCV001915688 RCV001980760 RCV001895276 RCV001951599 RCV001916305 RCV005095742 RCV002222915 RCV002249272 RCV003500692 RCV002284046 RCV002286592 RCV002286598 RCV002309555 RCV002309075 RCV002306866 RCV000020319 RCV000020314 RCV000020318 RCV000020317 RCV000020320 RCV000020312 RCV001353057 RCV000675081 RCV000003212 RCV000003216 RCV000003219 RCV000020321 RCV000169246 RCV000003223 RCV000492011 RCV000169024 RCV000078933 RCV000544790 RCV003500499 RCV000078936 RCV000003232 RCV000020313 RCV000795605 RCV000169048 RCV001376978 RCV003064666 RCV003041420 RCV003041421 RCV000169193 RCV000169598 RCV000169323 RCV000169476 RCV000169355 RCV003052681 RCV003067265 RCV003074893 RCV003061639 RCV000180166 RCV002620764 RCV002659128 RCV002705864 RCV002716076 RCV002785457 RCV002776250 RCV002756041 RCV002819939 RCV002801671 RCV002856891 RCV002838694 RCV002875682 RCV002847519 RCV002853238 RCV002848202 RCV002957662 RCV002909478 RCV002982621 RCV003007549 RCV003037475 RCV002996828 RCV003054290 RCV003047254 RCV003055704 RCV003154875 RCV003227541 RCV000984244 RCV001855074 RCV000984243 RCV003318425 RCV003501186 RCV003501561 RCV003501659 RCV003501565 RCV003501727 RCV003501862 RCV003501754 RCV003501755 RCV003501756 RCV003500108 RCV003502002 RCV003500315 RCV003500470 RCV003500207 RCV003500383 RCV003607643 RCV003607606 RCV003607742 RCV003607710 RCV003607724 RCV003607745 RCV003607956 RCV003608019 RCV003608014 RCV003607932 RCV003608025 RCV003608135 RCV003608120 RCV003608291 RCV003608299 RCV003608213 RCV003608239 RCV003608337 RCV003608351 RCV003608448 RCV003608382 RCV003608418 RCV003608378 RCV003608531 RCV003608621 RCV003607134 RCV003817569 RCV003847516 RCV003852078 RCV004555147 RCV000020316 RCV000020322 RCV004586418 RCV000411861 RCV000409867 RCV000411066 RCV000410748 RCV000411535 RCV000410340 RCV000411756 RCV000409278 RCV000409957 RCV000409359 RCV000410974 RCV000412016 RCV000409478 RCV000409085 RCV000411185 RCV000410209 RCV000984246 RCV000673517 RCV003607294 RCV002527037 RCV000496135 RCV000496194 RCV000496179 RCV000496198 RCV000496166 RCV000496199 RCV000501028 RCV000669837 RCV000588032 RCV000626198 RCV000631448 RCV000674168 RCV000667567 RCV000674946 RCV000668073 RCV000672593 RCV000670737 RCV000668785 RCV000670248 RCV000668533 RCV000664482 RCV000667899 RCV000672005 RCV000674527 RCV000672928 RCV000674241 RCV000674033 RCV000669753 RCV000674138 RCV000669056 RCV000672436 RCV000668820 RCV000698866 RCV000780862 RCV000818754 RCV000807270 RCV001172255 RCV001172254 RCV001172253 RCV001172252 RCV001172251 RCV001172249 RCV001172248 RCV001172250 RCV000150058 RCV000672049 RCV002514296 RCV001854228 RCV000667096 RCV003500500 RCV000409776 RCV000803574 RCV001854229 RCV000667286 RCV001242589 RCV000631449 RCV002513773 RCV000664907 RCV001380269 RCV000150061 RCV000524971 RCV002283451 RCV000668693 RCV000150060 RCV005089490 RCV001854230 RCV005614378 RCV000578460 RCV000670369 RCV001039188 RCV000695949 RCV000995697 RCV000984245 RCV000995698 RCV001064269 RCV001062955 RCV001042235 RCV001042683 RCV001061823 RCV001174677 RCV001193048 RCV001193047 RCV001192373 RCV001224526 RCV001211652 RCV001212980 RCV001208287 RCV001231567 RCV001237276 RCV001250463 RCV001250462 RCV001250461 RCV001250460 RCV001250458 RCV001250457 RCV001250456 RCV003607419 RCV005029852 RCV001280565 RCV001290419 RCV001290420 RCV000078932 RCV000078942 RCV001854393 RCV001251199 RCV000078952 RCV000078953	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, adult type	Pathogenic; Likely pathogenic	rs80338815, rs28940893, rs74315455, rs74315457, rs121434215, rs28940894, rs28940895	RCV000003194 RCV000003197 RCV000003198 RCV000003203 RCV000003235 RCV000003236 RCV000003238	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, juvenile type	Pathogenic; Likely pathogenic	rs80338815, rs28940893, rs74315457, rs80338820, rs74315470, rs74315485	RCV000003192 RCV000003195 RCV000003202 RCV000003204 RCV003993733 RCV000003240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, late infantile form	Likely pathogenic; Pathogenic	rs74315456, rs74315483, rs74315484, rs786204673, rs80338823	RCV000003199 RCV000003237 RCV000003239 RCV002265656 RCV002265665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET	Pathogenic	rs74315458	RCV000003205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METACHROMATIC LEUKODYSTROPHY, MILD	Likely pathogenic; Pathogenic	rs74315477, rs74315481	RCV000003228 RCV000003233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METACHROMATIC LEUKODYSTROPHY, SEVERE	Pathogenic; Likely pathogenic	rs74315460, rs199476371, rs74315462, rs74315471, rs74315472, rs74315474, rs74315475, rs74315476, rs886041911	RCV000003207 RCV000003208 RCV000003210 RCV000003220 RCV000003221 RCV000003224 RCV000003226 RCV000003227 RCV002221160	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs80338815	RCV001778645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	Likely pathogenic; Pathogenic	rs199476349	RCV005208124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs80338815	RCV005887232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs146371968	RCV005913625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs74315473	RCV001642197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs74315473	RCV005887236	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Pathogenic	rs80338815	RCV005887235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive sideroblastic anemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC FATIGUE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Citrullinemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, METACHROMATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, METACHROMATIC, ADULT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHROMATIC LEUKODYSTROPHY, ADULT FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHROMATIC LEUKODYSTROPHY, CONGENITAL TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOARYLSULFATASE A DEFICIENCY	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	18478261, 20635403		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29393216		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	29948059		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	28133684		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30083338		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	16105666		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31768832		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27752813		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31792903		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29486463	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	31786439		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30442249		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	31092838		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	28281731		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23764717		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31274651		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18054208		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18054208, 27925775		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27460909		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31792903		★☆☆☆☆ Found in Text Mining only
Arylsulfatase A Deficiency	Arylsulfatase A Deficiency	BEFREE	2568751, 28762252, 31195190, 6104322, 6143719, 6149515, 6580647		★☆☆☆☆ Found in Text Mining only
Arylsulfatase A Deficiency	Arylsulfatase A Deficiency	GENOMICS_ENGLAND_DG	7866401		★☆☆☆☆ Found in Text Mining only
Arylsulfatase A Deficiency	Arylsulfatase A Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	14749922, 15784113, 16630147		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14749922, 16630147		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29509264		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27925775		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37794117	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	18478261		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	31017728		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	28235531		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	30795637		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21265945	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30952120		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28190074, 29980005, 31280100		★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33668685	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	6114860		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24435978, 6114860		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28137219, 28192718, 29102264, 29759510, 30558024		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30026549	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	31401971		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	30284695		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	16613739		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31171282, 31343071		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	29069040		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	31059078		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	29224843		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25105126		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29525914, 30026549		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	29525914		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	30149770		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28851486		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16403786, 20197483, 23867870, 27416043, 28424670, 28556814, 31443089		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14566053, 16105666, 18544566, 28473247, 29794245, 31485982		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16082388, 17981262, 20197483, 23529546, 26033966, 27906680, 30050110, 30478770, 31526896		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31159739		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	9336808		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17470694, 30076444		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17470694, 29566413, 30076444, 30697254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	17470694, 29936283, 30076444		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	23446846		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	25834322, 27906680, 28128675, 29164650, 29411947, 29576767, 29959726, 30813044, 30844556, 30863001, 30900526, 31093505, 31220875, 31443089, 31834046		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21882008		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29756695		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31300909		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12459318, 30535719, 9261837		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31836585	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	9261837		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26553228	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	27578		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28120908, 30535719, 31488762		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	8897113	Associate	★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	29080069		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	28851486		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22418727, 28252556, 29388457, 29525914, 30121133, 30761717, 31267721		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22418727, 28252556, 29388457, 29525914, 29791574, 30121133, 30761717, 30980102, 31267721, 31552437, 31659742		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30026549	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28137219, 28946049, 30026549		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	17926345		★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	28623877, 28973845, 31209604		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12459318		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29352300		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	16608548		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26187619		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30762735		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30762735		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	29876311		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15494095	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30144594, 31429199		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30144594, 31429199		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	15275696, 27025653, 27638601		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	10649496		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10406672, 15060811		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	18006842, 20197483		★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	7173866		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28655651		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24156754, 28476544		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30026549	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29529331, 30121133, 30303886, 30945351, 31268640		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	29943136, 31350104		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37817462	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	9336808		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	9336808		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28213866		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28191778		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31526896		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	23209833	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19202572, 19650826, 27773555, 27851980, 27906680, 27933686, 28424670, 28473247, 28556814, 28644308, 29030981, 29073323, 29164650, 29309905, 29572605, 30050110, 30373275, 30506945, 30848589, 30900526, 31013494, 31221869, 31310787, 31471699, 31493578, 31834046		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30107885		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29073323		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28431593, 29566416		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29532218		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	25105126, 28007874		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28296531, 30739741		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25105126, 30026549		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	27638601		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	11777924, 15452, 16608548, 1670590, 1673291, 1678251, 1684088, 1689485, 2019586, 21265945, 21695197, 22216298, 24896259, 26553228, 2876627, 29899471, 30834272, 31186049, 31694723, 32431092, 32632536, 32875726, 32950023, 35065785, 36195888, 36240581, 36611, 37212343, 37480112, 38458124, 39766783, 40067424, 6107044, 6114634, 6134282, 6580647, 7649558, 7825603, 8095368	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	16982334, 22284439, 37458805, 6108562	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	CLINVAR_DG	10220151, 10381328, 10459747, 10477432, 10751093, 11013459, 11020646, 11061266, 11456299, 11777924, 11941485, 12035837, 12081727, 12086582, 12445909, 12809637, 12809638, 1284530, 1353340, 14517960, 14680985, 15139291, 15326627, 15375602, 15720392, 15952986, 16546179, 16678723, 1670590, 1673291, 1678251, 1684088, 16966551, 17438611, 17560502, 18693274, 18786133, 19021637, 1975241, 19815439, 20339381, 20646068, 20890085, 21167507, 21265945, 22216298, 22993277, 23208745, 23559313, 23581857, 23701968, 24001781, 25965562, 26131420, 26462614, 26553228, 26890752, 27261095, 27374302, 28667691, 28670130, 28762252, 30057904, 7581401, 7649558, 7815434, 7825603, 7866401, 7906588, 8095918, 8101038, 8101083, 8104633, 8455580, 8723680, 8962139, 8982952, 9090526, 9096767, 9192271, 9490297, 9600244, 9819708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	UNIPROT_DG	10220151, 10381328, 10477432, 10533072, 10751093, 11020646, 11061266, 11456299, 11941485, 12503099, 12788103, 1353340, 14517960, 14680985, 15026521, 15326627, 15710861, 1670590, 1673291, 1678251, 18693274, 19606494, 20339381, 21265945, 2574462, 7581401, 7825603, 7860068, 7902317, 7906588, 7909527, 8095918, 8101038, 8101083, 8104633, 8891236, 9090526, 9272717, 9452102, 9490297, 9600244, 9819708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	10381328, 10454754, 10477432, 10697958, 10822308, 10965162, 11020646, 11231629, 1127503, 11399225, 11499846, 11685544, 11815881, 11941485, 12116203, 12459318, 12788103, 12809637, 1353340, 1357970, 1359786, 14517960, 14571263, 14680985, 15026521, 15275696, 15452, 15709909, 15710861, 15720392, 15772092, 15862354, 15952986, 16110195, 16140556, 16311251, 16608548, 16613739, 16630546, 16678723, 1670590, 1671769, 16729983, 1673291, 1676699, 16782379, 1678251, 1684088, 1687778, 1687779, 1689485, 17164773, 17341424, 17660863, 17701343, 17728461, 17845130, 18693274, 18768108, 18786133, 18797988, 19021637, 19054018, 19224915, 19574581, 19606494, 19699491, 1975970, 19837699, 19955343, 20339381, 20571983, 21167507, 21265945, 21515587, 21695197, 22642214, 22854541, 2302219, 23192358, 23559313, 23701968, 23845948, 23966770, 24001781, 24411407, 24478108, 24572788, 2568751, 25758611, 25965562, 26061647, 26131420, 26825355, 26890752, 27025653, 27289174, 27374302, 27638601, 28088283, 28191778, 28215668, 28670130, 28762252, 2876627, 28799099, 2881636, 2906225, 29111560, 29593, 30052522, 30083785, 30197627, 30657900, 30674982, 30828547, 31036045, 3116328, 31186049, 31195190, 31312839, 31319425, 31410132, 31684987, 3577670, 36575, 37822, 6104322, 6108562, 6108718, 6119902, 6137805, 6143719, 6144627, 6146104, 6580647, 6806321, 7173866, 7558057, 7584122, 7635478, 7833949, 7847447, 7901143, 7902317, 7908679, 7909527, 7981715, 8095368, 8101038, 8101083, 8101704, 8104633, 8455580, 8456837, 8542433, 8707308, 8837707, 8891236, 8946177, 8982952, 9007312, 9056111, 9090526, 9096767, 9209791, 9375919, 9402957, 9490297, 9500813, 9600244, 9668161, 9693234, 9728336, 9744473, 9759937, 9888390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	LHGDN	11941485, 15026521, 15772092, 16110195, 16311251, 16678723, 17660863, 17845130, 18693274, 19021637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	GENOMICS_ENGLAND_DG	1670590, 24357685, 24816252, 2574462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	29080069		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36645712	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31389073		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	8897113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	8897113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30247373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28190074, 29980005, 31280100		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30762735		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24435978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31761416		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20197483, 27502400, 28483663, 29197038, 29707148, 29794245, 29943136, 30144594, 31112026, 31429199		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14566053, 16105666, 18544566, 29794245, 31485982		★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	10649496		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30535719, 31488762		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	12948748		★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	BEFREE	30509459		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	7584122		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29101558, 29352300		★☆☆☆☆ Found in Text Mining only
Metachromatic leukodystrophy variant	Metachromatic Leukodystrophy	BEFREE	19955343		★☆☆☆☆ Found in Text Mining only
Metachromatic leukodystrophy, adult form	Metachromatic Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metachromatic Leukodystrophy, Adult-Type (disorder)	Metachromatic Leukodystrophy	BEFREE	1673291, 16966551, 21265945, 27578, 6136972		★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Adult-Type (disorder)	Metachromatic Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Adult-Type (disorder)	Metachromatic Leukodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Infant	Metachromatic Leukodystrophy	BEFREE	14571263, 1676699, 1678251, 7649558, 7981715, 8101038, 8104633, 8723680, 9272717, 9490297, 9888390		★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Infant	Metachromatic Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Infant	Metachromatic Leukodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Metachromatic leukodystrophy, juvenile form	Metachromatic Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metachromatic leukodystrophy, juvenile type	Metachromatic Leukodystrophy	BEFREE	16608548, 1684088, 6136972		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, juvenile type	Metachromatic Leukodystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, juvenile type	Metachromatic Leukodystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachromatic leukodystrophy, late infantile form	Metachromatic Leukodystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metastatic melanoma	Metastatic Melanoma	BEFREE	22418727		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	16608548		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VI	Mucopolysaccharidosis	LHGDN	18248830		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VI	Mucopolysaccharidosis	Pubtator	36611	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	1687779		★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	12809637, 1348358, 15446395, 3116328, 6108562, 6731437, 9336808		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30005044, 30047817		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	7908874		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	7908874		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	23446846		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27147748		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18006842, 20197483, 27461850, 27671904, 27751529, 28550435, 28580347, 28766076, 28889320, 29098034, 29707148, 30144594, 30409440, 30601357, 30822523, 30982739, 31073400, 31485982, 31646437, 6114860		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	30952120		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	8095368		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30952120		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31429199		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36611	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11815881, 19837699, 23559313, 6149515, 8456837, 9402957		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency	Pseudoarylsulfatase A Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27988412, 28252556, 28692347, 28884402, 29352300, 30562295, 30683449, 30931664, 31506185		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22209867		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29756496		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	11268322		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27872956, 30627886		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37817462	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33668685	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31274651		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	18596984		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31221869, 31312839		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	9668161		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	43111		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29566413, 29754671, 31112026, 31471666		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	29754671, 31112026		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	11456299		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	17728461		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	17728461		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	11061266, 26553228		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	11164193		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20188076		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12459318, 30535719, 9261837		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28165825, 31493578		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	21695197	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	31485982		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31526896		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31676380		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28213866		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	1975970		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	1975970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	37794117	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	40067424	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Separation Anxiety Disorder	Separation Anxiety Disorder	BEFREE	18054208, 27683967, 29353531		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28887240, 29343086		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	17926345		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	17926345		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28884402, 29881356, 30805788		★☆☆☆☆ Found in Text Mining only
Sneddon Syndrome	Sneddon Syndrome	BEFREE	11042423		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	29343086		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	30601357		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28281731		★☆☆☆☆ Found in Text Mining only
Sulfatidosis, Juvenile, Austin Type	Sulfatidosis	BEFREE	9336808		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease, Variant B1	Tay-Sachs Disease	BEFREE	28923328		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27557754		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31761416		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31761416		★☆☆☆☆ Found in Text Mining only
Transcobalamin I Deficiency	Transcobalamin deficiency	Pubtator	30026549, 8095368	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22209867		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18322880, 21221801, 22662201, 23146664, 23529546, 25569743, 25834322, 27906680, 28128675, 28138699, 28169975, 28390410, 28440311, 28453754, 28644308, 28653751, 28958891, 29073323, 29108025, 29407223, 29742710, 29925913, 30020742, 30060944, 30179881, 30369547, 30420398, 30478770, 30576642, 30659678, 30813044, 30844556, 30863001, 30895635, 30900526, 30901362, 30963247, 31013494, 31076743, 31415431, 31471699, 31498003, 31636478, 31834046		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	8897113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	8897113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	7908874		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	16361798		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29509264		★☆☆☆☆ Found in Text Mining only