HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

Gene

• Entrez ID: 138050
• Gene name: Heparan-alpha-glucosaminide N-acetyltransferase
• Gene symbol: HGSNAT
• Synonyms (NCBI Gene): HGNAT, MPS3C, RP73, TMEM76
• Chromosome: 8
• Chromosome location: 8p11.21-p11.1
• Summary: This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopoly

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112029032	G>A	Likely-pathogenic, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121908282	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs121908283	T>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs121908284	T>A	Pathogenic	Missense variant, coding sequence variant
rs121908285	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908286	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193066451	G>A	Pathogenic	Splice donor variant
rs370717845	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs372933126	C>A,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs377050184	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398124544	G>A	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs398124545	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs483352894	->G	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, frameshift variant
rs483352895	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs483352896	A>G	Pathogenic	Splice acceptor variant
rs483352908	G>A	Pathogenic	Splice donor variant
rs727503962	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs747240928	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs748387885	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs749568919	A>T	Likely-pathogenic	Splice acceptor variant
rs752939204	C>T	Pathogenic	Coding sequence variant, stop gained
rs753355844	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs754875934	A>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs755710040	A>C	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs756310864	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs762402992	A>G	Likely-pathogenic	Splice acceptor variant
rs766835582	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs775078211	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs797045120	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs954238515	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518644	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795522	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1085307112	A>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307880	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1401818080	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1447092074	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1554526454	->CG	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554531744	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, 5 prime UTR variant
rs1554532283	G>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1554533211	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554537612	G>A,C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554537613	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554537807	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554537841	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1563366896	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1586698317	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039742	hsa-miR-615-3p	CLASH	23622248
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1044911	hsa-miR-122	CLIP-seq
MIRT1044912	hsa-miR-1226	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1044914	hsa-miR-1252	CLIP-seq
MIRT1044915	hsa-miR-1276	CLIP-seq
MIRT1044916	hsa-miR-1324	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT1044918	hsa-miR-198	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT1044920	hsa-miR-22	CLIP-seq
MIRT1044921	hsa-miR-24	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT1044923	hsa-miR-3134	CLIP-seq
MIRT1044924	hsa-miR-3144-3p	CLIP-seq
MIRT1044925	hsa-miR-3150a-3p	CLIP-seq
MIRT1044926	hsa-miR-3165	CLIP-seq
MIRT1044927	hsa-miR-3175	CLIP-seq
MIRT1044928	hsa-miR-3182	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT1044930	hsa-miR-3202	CLIP-seq
MIRT1044931	hsa-miR-3617	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT1044933	hsa-miR-3647-3p	CLIP-seq
MIRT1044934	hsa-miR-3662	CLIP-seq
MIRT1044935	hsa-miR-3669	CLIP-seq
MIRT1044936	hsa-miR-3682-5p	CLIP-seq
MIRT1044937	hsa-miR-3689a-3p	CLIP-seq
MIRT1044938	hsa-miR-3689c	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT1044940	hsa-miR-376c	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT1044942	hsa-miR-4270	CLIP-seq
MIRT1044943	hsa-miR-4276	CLIP-seq
MIRT1044944	hsa-miR-4284	CLIP-seq
MIRT1044945	hsa-miR-4299	CLIP-seq
MIRT1044946	hsa-miR-4311	CLIP-seq
MIRT1044947	hsa-miR-4441	CLIP-seq
MIRT1044948	hsa-miR-4456	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT1044950	hsa-miR-4481	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044952	hsa-miR-4520a-3p	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044956	hsa-miR-4640-5p	CLIP-seq
MIRT1044957	hsa-miR-4643	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044959	hsa-miR-4667-5p	CLIP-seq
MIRT1044960	hsa-miR-4670-3p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044963	hsa-miR-4679	CLIP-seq
MIRT1044964	hsa-miR-4683	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT1044967	hsa-miR-4700-5p	CLIP-seq
MIRT1044968	hsa-miR-4719	CLIP-seq
MIRT1044969	hsa-miR-4722-5p	CLIP-seq
MIRT1044970	hsa-miR-4726-5p	CLIP-seq
MIRT1044971	hsa-miR-4728-5p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT1044973	hsa-miR-4744	CLIP-seq
MIRT1044974	hsa-miR-4745-5p	CLIP-seq
MIRT1044975	hsa-miR-513b	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT1044977	hsa-miR-548q	CLIP-seq
MIRT1044978	hsa-miR-570	CLIP-seq
MIRT1044979	hsa-miR-583	CLIP-seq
MIRT1044980	hsa-miR-634	CLIP-seq
MIRT1044981	hsa-miR-640	CLIP-seq
MIRT1044982	hsa-miR-641	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT1044984	hsa-miR-646	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT1044986	hsa-miR-875-5p	CLIP-seq
MIRT1044987	hsa-miR-939	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2009824	hsa-miR-1205	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT2009825	hsa-miR-1287	CLIP-seq
MIRT2009826	hsa-miR-1587	CLIP-seq
MIRT2009827	hsa-miR-1910	CLIP-seq
MIRT2009828	hsa-miR-3121-3p	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT2009829	hsa-miR-3619-3p	CLIP-seq
MIRT2009830	hsa-miR-3649	CLIP-seq
MIRT2009831	hsa-miR-3652	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT2009832	hsa-miR-378g	CLIP-seq
MIRT2009833	hsa-miR-4264	CLIP-seq
MIRT2009834	hsa-miR-4300	CLIP-seq
MIRT2009835	hsa-miR-4320	CLIP-seq
MIRT2009836	hsa-miR-4430	CLIP-seq
MIRT2009837	hsa-miR-4434	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2009838	hsa-miR-4492	CLIP-seq
MIRT2009839	hsa-miR-4498	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2009840	hsa-miR-4516	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT2009841	hsa-miR-4650-5p	CLIP-seq
MIRT2009842	hsa-miR-4656	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT2009843	hsa-miR-4675	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044968	hsa-miR-4719	CLIP-seq
MIRT1044969	hsa-miR-4722-5p	CLIP-seq
MIRT2009844	hsa-miR-4741	CLIP-seq
MIRT2009845	hsa-miR-4797-3p	CLIP-seq
MIRT2009846	hsa-miR-4802-5p	CLIP-seq
MIRT2009847	hsa-miR-503	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2009848	hsa-miR-671-5p	CLIP-seq
MIRT2009849	hsa-miR-762	CLIP-seq
MIRT2009850	hsa-miR-920	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242176	hsa-miR-103b	CLIP-seq
MIRT1044911	hsa-miR-122	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT2242177	hsa-miR-124	CLIP-seq
MIRT2242178	hsa-miR-1255a	CLIP-seq
MIRT2242179	hsa-miR-1255b	CLIP-seq
MIRT2242180	hsa-miR-1256	CLIP-seq
MIRT2242181	hsa-miR-1271	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT2242182	hsa-miR-149	CLIP-seq
MIRT2242183	hsa-miR-182	CLIP-seq
MIRT2242184	hsa-miR-185	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT1044920	hsa-miR-22	CLIP-seq
MIRT2242185	hsa-miR-25	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2242186	hsa-miR-3064-5p	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT2242187	hsa-miR-3126-3p	CLIP-seq
MIRT1044924	hsa-miR-3144-3p	CLIP-seq
MIRT2242188	hsa-miR-3153	CLIP-seq
MIRT2242189	hsa-miR-3154	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT2242190	hsa-miR-32	CLIP-seq
MIRT2242191	hsa-miR-320a	CLIP-seq
MIRT2242192	hsa-miR-320b	CLIP-seq
MIRT2242193	hsa-miR-320c	CLIP-seq
MIRT2242194	hsa-miR-320d	CLIP-seq
MIRT2242195	hsa-miR-338-3p	CLIP-seq
MIRT2242196	hsa-miR-361-3p	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT2242197	hsa-miR-3622a-3p	CLIP-seq
MIRT2242198	hsa-miR-3622b-3p	CLIP-seq
MIRT2242199	hsa-miR-363	CLIP-seq
MIRT2242200	hsa-miR-3650	CLIP-seq
MIRT2242201	hsa-miR-3668	CLIP-seq
MIRT2242202	hsa-miR-367	CLIP-seq
MIRT2242203	hsa-miR-3676	CLIP-seq
MIRT2242204	hsa-miR-3686	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT2242205	hsa-miR-376a	CLIP-seq
MIRT2242206	hsa-miR-376b	CLIP-seq
MIRT2242207	hsa-miR-3910	CLIP-seq
MIRT2242208	hsa-miR-3915	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT2242209	hsa-miR-3919	CLIP-seq
MIRT2242210	hsa-miR-3928	CLIP-seq
MIRT2242211	hsa-miR-3978	CLIP-seq
MIRT2242212	hsa-miR-4254	CLIP-seq
MIRT2242213	hsa-miR-4261	CLIP-seq
MIRT2009833	hsa-miR-4264	CLIP-seq
MIRT2242214	hsa-miR-4267	CLIP-seq
MIRT2009834	hsa-miR-4300	CLIP-seq
MIRT2242215	hsa-miR-4306	CLIP-seq
MIRT2242216	hsa-miR-4330	CLIP-seq
MIRT2242217	hsa-miR-4429	CLIP-seq
MIRT1044948	hsa-miR-4456	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT2242219	hsa-miR-4511	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044952	hsa-miR-4520a-3p	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT2242221	hsa-miR-4529-5p	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044957	hsa-miR-4643	CLIP-seq
MIRT2242222	hsa-miR-4644	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT2242223	hsa-miR-4659a-5p	CLIP-seq
MIRT2242224	hsa-miR-4659b-5p	CLIP-seq
MIRT2242225	hsa-miR-4663	CLIP-seq
MIRT2242226	hsa-miR-4668-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT2242227	hsa-miR-4690-5p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT2242228	hsa-miR-4712-3p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2242229	hsa-miR-4736	CLIP-seq
MIRT2242230	hsa-miR-4747-5p	CLIP-seq
MIRT2242231	hsa-miR-4756-3p	CLIP-seq
MIRT2242232	hsa-miR-4765	CLIP-seq
MIRT2242233	hsa-miR-4769-3p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT2242235	hsa-miR-4794	CLIP-seq
MIRT2009845	hsa-miR-4797-3p	CLIP-seq
MIRT2009846	hsa-miR-4802-5p	CLIP-seq
MIRT2242236	hsa-miR-485-5p	CLIP-seq
MIRT2009847	hsa-miR-503	CLIP-seq
MIRT2242237	hsa-miR-506	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT2242238	hsa-miR-619	CLIP-seq
MIRT1044981	hsa-miR-640	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2009848	hsa-miR-671-5p	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT2242239	hsa-miR-767-5p	CLIP-seq
MIRT1044986	hsa-miR-875-5p	CLIP-seq
MIRT2242240	hsa-miR-892a	CLIP-seq
MIRT2009850	hsa-miR-920	CLIP-seq
MIRT2242241	hsa-miR-92a	CLIP-seq
MIRT2242242	hsa-miR-92b	CLIP-seq
MIRT2242243	hsa-miR-933	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242244	hsa-miR-96	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2009831	hsa-miR-3652	CLIP-seq
MIRT1044937	hsa-miR-3689a-3p	CLIP-seq
MIRT1044938	hsa-miR-3689c	CLIP-seq
MIRT2388945	hsa-miR-4271	CLIP-seq
MIRT2009836	hsa-miR-4430	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT1044950	hsa-miR-4481	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT2388946	hsa-miR-4725-3p	CLIP-seq
MIRT1044971	hsa-miR-4728-5p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT1044974	hsa-miR-4745-5p	CLIP-seq
MIRT2242230	hsa-miR-4747-5p	CLIP-seq
MIRT2242236	hsa-miR-485-5p	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242177	hsa-miR-124	CLIP-seq
MIRT2242181	hsa-miR-1271	CLIP-seq
MIRT2242183	hsa-miR-182	CLIP-seq
MIRT2242189	hsa-miR-3154	CLIP-seq
MIRT2242201	hsa-miR-3668	CLIP-seq
MIRT2242207	hsa-miR-3910	CLIP-seq
MIRT2242208	hsa-miR-3915	CLIP-seq
MIRT2242210	hsa-miR-3928	CLIP-seq
MIRT2242237	hsa-miR-506	CLIP-seq
MIRT2242239	hsa-miR-767-5p	CLIP-seq
MIRT2242240	hsa-miR-892a	CLIP-seq
MIRT2242244	hsa-miR-96	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT2451172	hsa-miR-3122	CLIP-seq
MIRT2451173	hsa-miR-3913-5p	CLIP-seq
MIRT2451174	hsa-miR-425	CLIP-seq
MIRT2451175	hsa-miR-450b-3p	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2451176	hsa-miR-769-3p	CLIP-seq
MIRT2545825	hsa-miR-1185	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT2242178	hsa-miR-1255a	CLIP-seq
MIRT2242179	hsa-miR-1255b	CLIP-seq
MIRT2545826	hsa-miR-1260	CLIP-seq
MIRT2545827	hsa-miR-1260b	CLIP-seq
MIRT2545828	hsa-miR-188-3p	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT2545829	hsa-miR-2110	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT2451172	hsa-miR-3122	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT1044925	hsa-miR-3150a-3p	CLIP-seq
MIRT2545830	hsa-miR-3156-3p	CLIP-seq
MIRT2545831	hsa-miR-3605-5p	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT2545832	hsa-miR-3679-5p	CLIP-seq
MIRT2545833	hsa-miR-377	CLIP-seq
MIRT2451173	hsa-miR-3913-5p	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT2451174	hsa-miR-425	CLIP-seq
MIRT2545834	hsa-miR-4260	CLIP-seq
MIRT2545835	hsa-miR-4450	CLIP-seq
MIRT2545836	hsa-miR-4457	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2451175	hsa-miR-450b-3p	CLIP-seq
MIRT2242219	hsa-miR-4511	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT1044975	hsa-miR-513b	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT1044978	hsa-miR-570	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2545837	hsa-miR-665	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT2451176	hsa-miR-769-3p	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1044914	hsa-miR-1252	CLIP-seq
MIRT2545826	hsa-miR-1260	CLIP-seq
MIRT2545827	hsa-miR-1260b	CLIP-seq
MIRT2682289	hsa-miR-1321	CLIP-seq
MIRT2545828	hsa-miR-188-3p	CLIP-seq
MIRT1044923	hsa-miR-3134	CLIP-seq
MIRT2545830	hsa-miR-3156-3p	CLIP-seq
MIRT2682290	hsa-miR-3162-5p	CLIP-seq
MIRT2545833	hsa-miR-377	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2682291	hsa-miR-4739	CLIP-seq
MIRT2682292	hsa-miR-4756-5p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT2545837	hsa-miR-665	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	19823584, 20650889
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007041	Process	Lysosomal transport	IBA
GO:0007041	Process	Lysosomal transport	IDA	20650889
GO:0015019	Function	Heparan-alpha-glucosaminide N-acetyltransferase activity	IEA
GO:0015019	Function	Heparan-alpha-glucosaminide N-acetyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	19823584, 20650889
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	20650889
GO:0070821	Component	Tertiary granule membrane	TAS

Other IDs

• MIM: 610453
• HGNC: 26527
• e!Ensembl: ENSG00000165102

Protein

• UniProt ID: Q68CP4
• Protein name: Heparan-alpha-glucosaminide N-acetyltransferase (EC 2.3.1.78) (Transmembrane protein 76)
• Protein function: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. {ECO:0000269|PubMed:16960811
• PDB: 8JKV, 8JL1, 8JL3, 8JL4, 8TU9, 8VKJ, 8VLG, 8VLI, 8VLU, 8VLV, 8VLY, 8W4A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07786	DUF1624	267 → 428	Protein of unknown function (DUF1624)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958}.
• Sequence:

  MTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRD
  AQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPK
  AGKPSAAAASVSTQHGSILQLNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACD
  LAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWISKAISSRETDRLINSE
  LGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASW
  NGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLICIGIIIVNPN
  YCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQ
  WLLILVLEGLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHL
  YQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKDILIRFTAWCC
  ILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPF
  FYPGMNSILVYVGHEVFENYFPFQWKLKDNQSHKEHLTQNIVATALWVLIAYILYRKKIF
  WKI

• Sequence length: 663

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

HS-GAG degradation
MPS IIIC - Sanfilippo syndrome C
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	Likely pathogenic; Pathogenic	rs398124544	RCV005887677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HGSNAT-related disorder	Likely pathogenic	rs2486908416	RCV003412142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis	Pathogenic	rs370717845	RCV001030804	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis, MPS-III-C	Likely pathogenic; Pathogenic	rs398124544, rs398124545, rs2130722124, rs1220771600, rs1803180587, rs2130745878, rs2130766198, rs2130783742, rs771455190, rs2130819661, rs2130648385, rs2130648345, rs767574122, rs2130746148, rs375616017, rs2130810933, rs2130821307, rs2130750698, rs1804568176, rs2130648749, rs2130783645, rs2130810560, rs1804769861, rs2130821593, rs1324229618, rs193066451, rs483352894, rs121908282, rs121908283, rs483352895, rs483352896, rs121908286, rs2487117774, rs2486955614, rs2487089692, rs2487036515, rs2486963752, rs2486963908, rs2487114607, rs2486964055, rs2486918882, rs762402992, rs2487118957, rs2487083005, rs2486962491, rs2486904791, rs2486919501, rs2487003169, rs2486806807, rs2487003212, rs2486918870, rs2487118434, rs2487002864, rs1242842147, rs2130745641, rs2486980770, rs370717845, rs753355844, rs2486973322, rs2487119248, rs777146364, rs2486919204, rs2486808089, rs1802481729, rs758216916, rs1369781438, rs2486963476, rs2486918970, rs2487083124, rs2486847061, rs1352193481, rs2486973391, rs2487096513, rs2486919454, rs755710040, rs954238515, rs1057518644, rs483352908, rs1085307112, rs1085307880, rs372933126, rs1554531744, rs775078211, rs1554537612, rs1554537807, rs1554532283, rs1447092074, rs1554533211, rs766835582, rs747616932, rs1554537613, rs1554537841, rs1554526454, rs749568919, rs1554537586, rs747240928, rs748387885, rs1563366896, rs756310864, rs752939204, rs1586698317, rs1804527418, rs759057396, rs1804781641, rs1804565177, rs1803166641, rs1802737867, rs756420301, rs1804147747, rs1802484500, rs1803593441, rs1042066401, rs1802738210, rs1802741140, rs1803166332, rs1803167331, rs1803181154, rs1803182974, rs553837106, rs1803654249, rs1803878901, rs1804526900, rs73569592	RCV000668206 RCV000671662 RCV001379518 RCV001390498 RCV001386044 RCV001389504 RCV001390155 RCV001390992 RCV001387361 RCV001380828 RCV003772151 RCV001923286 RCV002015556 RCV002040075 RCV002037909 RCV001994815 RCV001939693 RCV001960510 RCV001877710 RCV002000919 RCV001975063 RCV001973705 RCV002045234 RCV002027204 RCV001983953 RCV000001289 RCV000001290 RCV000001291 RCV000001292 RCV000001294 RCV000001295 RCV000001297 RCV002309707 RCV002309991 RCV002308263 RCV002309054 RCV002307088 RCV002307135 RCV002310563 RCV002465058 RCV003112196 RCV002685668 RCV002750803 RCV002796306 RCV002815418 RCV002832951 RCV002838585 RCV002870776 RCV002842403 RCV002857521 RCV002848255 RCV002909353 RCV002999357 RCV003029396 RCV003044731 RCV005060993 RCV000239404 RCV000763185 RCV003782791 RCV003781090 RCV003789752 RCV003787813 RCV003807897 RCV003808423 RCV003806411 RCV003791631 RCV003790679 RCV003807203 RCV003804690 RCV003802078 RCV003809654 RCV003815255 RCV003815528 RCV003813212 RCV003812352 RCV003810372 RCV001389727 RCV000415469 RCV000023817 RCV000488421 RCV000691847 RCV000669939 RCV000652844 RCV000674597 RCV000664501 RCV000674699 RCV000667942 RCV000672832 RCV000667514 RCV000670844 RCV000672518 RCV000668961 RCV001383040 RCV000674664 RCV000672073 RCV000669029 RCV000674983 RCV000673270 RCV000670012 RCV000669280 RCV000667348 RCV001385500 RCV000689696 RCV000689608 RCV003768479 RCV000807281 RCV001038813 RCV001041925 RCV001047096 RCV001383041 RCV005049784 RCV001210786 RCV001204409 RCV001201450 RCV001232001 RCV001231322 RCV001251050 RCV001264381 RCV001263599 RCV001263600 RCV001263601 RCV001263602 RCV001263603 RCV001263604 RCV001263605 RCV001263606 RCV001263890 RCV001263891 RCV001263892	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs398124544, rs121908282, rs2487003212, rs483352908, rs1554537807, rs747240928, rs1563366896, rs756310864, rs752939204, rs1804147747	RCV001074721 RCV000504894 RCV004817128 RCV001074236 RCV004817902 RCV004817877 RCV004817927 RCV001074231 RCV003889987 RCV003890342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 73	Likely pathogenic; Pathogenic	rs398124544, rs398124545, rs2130722124, rs1220771600, rs1803180587, rs2130745878, rs2130766198, rs2130783742, rs771455190, rs2130819661, rs2130648385, rs2130648345, rs767574122, rs2130746148, rs375616017, rs2130810933, rs2130821307, rs2130750698, rs1804568176, rs2130648749, rs2130783645, rs2130810560, rs1804769861, rs2130821593, rs1324229618, rs193066451, rs483352894, rs121908282, rs483352895, rs483352896, rs121908286, rs2486918882, rs762402992, rs2487118957, rs2487083005, rs797045120, rs2486962491, rs2486904791, rs2486919501, rs2487003169, rs2486806807, rs2487003212, rs2486918870, rs2487118434, rs2487002864, rs1242842147, rs2130745641, rs370717845, rs753355844, rs2486973322, rs2487119248, rs777146364, rs2486919204, rs2486808089, rs1802481729, rs758216916, rs1369781438, rs2486963476, rs2486918970, rs2487083124, rs2486847061, rs1352193481, rs2486973391, rs2487096513, rs2486919454, rs755710040, rs954238515, rs1057518644, rs483352908, rs1085307880, rs372933126, rs775078211, rs1554537807, rs1447092074, rs1554533211, rs766835582, rs747616932, rs1554537841, rs749568919, rs1554537586, rs747240928, rs748387885, rs1563366896, rs756310864, rs752939204, rs1586698317, rs1804527418, rs759057396, rs1804781641, rs1804565177, rs1803166641, rs1802737867, rs756420301, rs1804147747, rs1802484500, rs1803593441, rs1447139472, rs1804782152, rs1803166332, rs1803181154, rs1803878901	RCV001065437 RCV001221115 RCV001379518 RCV001390498 RCV001386044 RCV001389504 RCV001390155 RCV001390992 RCV001387361 RCV001380828 RCV003772151 RCV001923286 RCV002015556 RCV002040075 RCV002037909 RCV001994815 RCV001939693 RCV001960510 RCV001877710 RCV002000919 RCV001975063 RCV001973705 RCV002045234 RCV002027204 RCV001983953 RCV000763183 RCV000662072 RCV000763184 RCV002476908 RCV001067306 RCV001851534 RCV003112196 RCV002685668 RCV002750803 RCV002796306 RCV000190842 RCV002815418 RCV002832951 RCV002838585 RCV002870776 RCV002842403 RCV002857521 RCV002848255 RCV002909353 RCV002999357 RCV003029396 RCV003044731 RCV003765485 RCV000763185 RCV003782791 RCV003781090 RCV003789752 RCV003787813 RCV003807897 RCV003808423 RCV003806411 RCV003791631 RCV003790679 RCV003807203 RCV003804690 RCV003802078 RCV003809654 RCV003815255 RCV003815528 RCV003813212 RCV003812352 RCV003810372 RCV001389727 RCV002521465 RCV000652843 RCV000691847 RCV001041537 RCV000652844 RCV000793723 RCV001855586 RCV001383039 RCV001855511 RCV001383040 RCV001868282 RCV003767971 RCV001069675 RCV001390807 RCV001040598 RCV001385500 RCV000689696 RCV000689608 RCV003768479 RCV000807281 RCV001038813 RCV001041925 RCV001047096 RCV001250773 RCV001196380 RCV001210786 RCV001204409 RCV001201450 RCV001232001 RCV001231322 RCV001250772 RCV001250776 RCV001250775 RCV003770370 RCV003770371 RCV001880063	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sanfilippo syndrome	Likely pathogenic; Pathogenic	rs398124544, rs193066451, rs121908282, rs483352896, rs370717845, rs753355844, rs483352908, rs1085307880, rs775078211, rs1554533211, rs747616932, rs747240928, rs1563366896, rs756310864, rs1804565177, rs1804617510	RCV001192639 RCV000780343 RCV003330379 RCV000586364 RCV004701344 RCV000587936 RCV001192638 RCV003155215 RCV000780339 RCV001264578 RCV002282322 RCV002222590 RCV000780340 RCV003323688 RCV001175525 RCV001293488	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Synovial plica syndrome	Likely pathogenic; Pathogenic	rs1803878901	RCV002267635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs73569592	RCV005909293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III-C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 3	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 3C	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IIIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANFILIPPO SYNDROME TYPE C	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	CLINVAR_DG	16960811, 17033958, 17397050, 18024218, 19479962, 19823584, 20583299, 20825431, 23301227, 24767253, 25491247, 25525159, 25859010, 27733599		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	UNIPROT_DG	16960811, 17033958, 17397050, 18024218, 19479962, 19823584, 20583299, 20825431, 28101780		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	BEFREE	17033958, 17397050, 19479962, 19823584, 20583299, 20825431, 25859010, 27100513, 27733599, 31228227		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	ORPHANET_DG	17033958		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	17033958, 21048366, 27604308		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	BEFREE	27100513		★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	CLINVAR_DG	16960811, 17033958, 17397050, 18024218, 18518886, 19479962, 19823584, 20583299, 20825431, 26287674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	21048366, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	32770643, 39196614	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	27100513, 28921412		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32770643	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	17033958, 19479962		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25859010, 27608171		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	25859010		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27608171, 32770643	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 73	Retinitis Pigmentosa	CLINVAR_DG	17033958, 17397050, 18024218, 19479962, 19823584, 20583299, 20825431, 23301227, 25859010		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 73	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	21048366, 25859010, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 73	Retinitis Pigmentosa	UNIPROT_DG	25859010		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 73	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sanfilippo syndrome type C	Sanfilippo Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only