GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

ARSA (arylsulfatase A)

Gene

410

Arylsulfatase A

ARSA

ASA, MLD

22q13.33

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

Show/Hide all(125)

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

Show/Hide all(424)

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

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA	21873635
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	TAS	2562955
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0008484	Function	Sulfuric ester hydrolase activity	IDA	15962010
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
607574	713	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

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Lysosome		Glycosphingolipid metabolism The activation of arylsulfatases Neutrophil degranulation

Associated diseases

Show/Hide Causal Diseases (7)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental regression	Developmental regression	rs1224421127
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Metachromatic leukodystrophy	Leukodystrophy, Metachromatic, Metachromatic leukodystrophy, juvenile type, Metachromatic Leukodystrophy, Infant, Metachromatic Leukodystrophy, Adult-Type (disorder), Metachromatic leukodystrophy, adult form, Metachromatic leukodystrophy, late infantile form, Metachromatic leukodystrophy, juvenile form	rs118203941, rs118203943, rs80338815, rs28940893, rs74315455, rs74315456, rs74315457, rs80338820, rs74315460, rs74315463, rs74315467, rs74315470, rs74315471, rs74315472, rs74315473, rs74315474, rs74315475, rs74315476, rs74315477, rs74315478, rs74315479, rs1569077723, rs74315481, rs28940894, rs74315483, rs28940895, rs74315485, rs759960679, rs121918110, rs74315458, rs80338819, rs199476391, rs199476380, rs199476351, rs199476352, rs60504011, rs199476358, rs199476373, rs199476375, rs199476365, rs199476345, rs199476341, rs199476366, rs199476384, rs199476367, rs199476342, rs199476355, rs199476349, rs199476389, rs199476359, rs199476360, rs199476356, rs199476382, rs398123411, rs398123414, rs398123415, rs398123416, rs398123418, rs398123419, rs774153480, rs765905826, rs754722529, rs786204673, rs786204599, rs80338823, rs768028181, rs886041911, rs761860059, rs1057517237, rs1057517036, rs1057516887, rs1057516638, rs1057517073, rs1057516373, rs1057516907, rs762284875, rs1057517429, rs1057517346, rs1057517044, rs1057516730, rs745884435, rs1057516595, rs1057516288, rs148092995, rs755635209, rs761606317, rs1085308016, rs1135401757, rs1135401756, rs1135401755, rs763880042, rs1135401754, rs551472773, rs750030142, rs1375757476, rs769892461, rs1555900849, rs761555167, rs1555900678, rs74315270, rs1555900900, rs753415648, rs1555900191, rs1555901056, rs1555901108, rs1555901112, rs1555900463, rs769152137, rs1555900623, rs1555901083, rs1227301119, rs1555900150, rs776748338, rs1555900989, rs1555901170, rs1431844269, rs1561197425, rs1569081823, rs1603444908, rs1603445026, rs2082644196, rs2082663514, rs74315459, rs751026400, rs2082689435, rs2082690324, rs2082676596, rs74315468, rs770171865, rs121918106, rs2082657747, rs1188592346, rs754898479, rs2082684340, rs146371968	9452102, 30057904, 2574462, 18786133, 9600244, 9096767, 15375602, 26890752, 11941485, 8101083, 16678723, 8101038, 16966551, 7815434, 12035837, 26131420, 12503099, 28762252, 24357685, 8982952, 11020646, 12788103, 23208745, 23581857, 15952986, 23701968, 20339381, 1684088, 25965562, 7866401, 8891236, 12809637, 9090526, 11456299, 17560502, 1353340, 7825603, 7906588, 1284530, 14517960, 15326627, 15139291, 18693274, 14680985, 8104633, 7581401, 12445909, 9819708, 15026521, 10477432, 9192271, 15710861, 23559313, 12809638, 7860068, 26462614, 26553228, 9490297, 24001781, 1670590, 21167507, 15720392, 8723680, 8962139, 21265945, 10751093, 22216298, 27374302, 1678251, 11777924, 17438611, 11061266, 7909527, 19815439, 10381328, 10220151, 24816252, 8455580, 7649558, 10533072, 10459747, 11013459, 1673291, 20646068, 28667691, 22993277, 27261095, 8095918, 16546179, 7902317, 28670130, 19606494, 1975241, 12086582, 9272717, 20890085, 19021637, 12081727
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Pseudoarylsulfatase a deficiency	NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency	rs74315464, rs148092995, rs74315482
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313

Show/Hide Unknown Diseases (14)

Unknown
Disease name	Disease term	dbSNP ID	References
Arylsulfatase a deficiency	Arylsulfatase A Deficiency		7866401
Bowel incontinence	Fecal Incontinence
Bulbar palsy	Bulbar palsy
Cholecystitis	Cholecystitis
Delusions	Delusions
Dementia	Dementia
Dysarthria	Dysarthria
Neoplasm of gallbladder	gallbladder neoplasm
Hallucinations	Hallucinations
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	8897113
Mood swings	Mood swings
Quadriplegia	Quadriplegia
Sensorineural hearing loss	Sensorineural hearing loss, bilateral
Spastic quadriplegia	Spastic Quadriplegia

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412