GBA2 (glucosylceramidase beta 2)

Gene

• Entrez ID: 57704
• Gene name: Glucosylceramidase beta 2
• Gene symbol: GBA2
• Synonyms (NCBI Gene): AD035, NLGase, SPG46
• Disease Acronyms (UniProt): SPG46
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142607078	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123012	G>A	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs398123013	G>A,C	Pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, intron variant
rs398123014	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs398123064	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs754147042	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs756503362	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs774411642	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs780684206	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1011987148	G>A	Pathogenic	Stop gained, coding sequence variant
rs1448182827	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588010939	->GCCT	Pathogenic	Frameshift variant, coding sequence variant
rs1588013761	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1588022768	C>T	Pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs1588023668	G>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037829	hsa-miR-455-3p	CLASH	23622248
MIRT476461	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT476455	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT476453	hsa-miR-4257	PAR-CLIP	23592263
MIRT476452	hsa-miR-4459	PAR-CLIP	23592263
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT476449	hsa-miR-4518	PAR-CLIP	23592263
MIRT476448	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT476447	hsa-miR-1286	PAR-CLIP	23592263
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	23592263
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT476443	hsa-miR-4533	PAR-CLIP	23592263
MIRT476442	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT476441	hsa-miR-4284	PAR-CLIP	23592263
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT476438	hsa-miR-4271	PAR-CLIP	23592263
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	23592263
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	23592263
MIRT476433	hsa-miR-676-3p	PAR-CLIP	23592263
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	23592263
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT476430	hsa-miR-5692a	PAR-CLIP	23592263
MIRT476429	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT476428	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT476427	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT476426	hsa-miR-8062	PAR-CLIP	23592263
MIRT476425	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476424	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476422	hsa-miR-4710	PAR-CLIP	23592263
MIRT476423	hsa-miR-3915	PAR-CLIP	23592263
MIRT476421	hsa-miR-576-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT476447	hsa-miR-1286	PAR-CLIP	26701625
MIRT476447	hsa-miR-1286	PAR-CLIP	26701625
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT476455	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT476455	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	26701625
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476441	hsa-miR-4284	PAR-CLIP	26701625
MIRT476441	hsa-miR-4284	PAR-CLIP	26701625
MIRT476452	hsa-miR-4459	PAR-CLIP	26701625
MIRT476452	hsa-miR-4459	PAR-CLIP	26701625
MIRT476449	hsa-miR-4518	PAR-CLIP	26701625
MIRT476449	hsa-miR-4518	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	26701625
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476433	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT476433	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	26701625
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	26701625
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476448	hsa-miR-873-5p	PAR-CLIP	26701625
MIRT476448	hsa-miR-873-5p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT476455	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT476453	hsa-miR-4257	PAR-CLIP	23592263
MIRT476452	hsa-miR-4459	PAR-CLIP	23592263
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT476449	hsa-miR-4518	PAR-CLIP	23592263
MIRT476448	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT476447	hsa-miR-1286	PAR-CLIP	23592263
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	23592263
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT476443	hsa-miR-4533	PAR-CLIP	23592263
MIRT476442	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT476441	hsa-miR-4284	PAR-CLIP	23592263
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT476438	hsa-miR-4271	PAR-CLIP	23592263
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	23592263
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	23592263
MIRT476433	hsa-miR-676-3p	PAR-CLIP	23592263
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	23592263
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT476430	hsa-miR-5692a	PAR-CLIP	23592263
MIRT476429	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT476428	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT476427	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT476426	hsa-miR-8062	PAR-CLIP	23592263
MIRT476425	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476424	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476422	hsa-miR-4710	PAR-CLIP	23592263
MIRT476423	hsa-miR-3915	PAR-CLIP	23592263
MIRT476421	hsa-miR-576-5p	PAR-CLIP	23592263
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013619	hsa-miR-155	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013621	hsa-miR-193a-3p	CLIP-seq
MIRT1013622	hsa-miR-193b	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT1013625	hsa-miR-3135	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013629	hsa-miR-3620	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013636	hsa-miR-4699-3p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT1013643	hsa-miR-892b	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233624	hsa-miR-1470	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2233626	hsa-miR-188-3p	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2233636	hsa-miR-4667-3p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2233641	hsa-miR-532-3p	CLIP-seq
MIRT2233642	hsa-miR-642a	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT2537551	hsa-miR-3928	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT2537552	hsa-miR-4505	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT2537552	hsa-miR-4505	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004348	Function	Glucosylceramidase activity	IDA	17080196
GO:0004348	Function	Glucosylceramidase activity	TAS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	11489889
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IDA	17080196
GO:0006680	Process	Glucosylceramide catabolic process	IMP	30308956
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	ISS
GO:0008206	Process	Bile acid metabolic process	IDA	17105727
GO:0008206	Process	Bile acid metabolic process	TAS	11489889
GO:0008422	Function	Beta-glucosidase activity	IBA	21873635
GO:0008422	Function	Beta-glucosidase activity	IDA	11489889
GO:0016021	Component	Integral component of membrane	IDA	17105727
GO:0016021	Component	Integral component of membrane	NAS	11489889
GO:0016139	Process	Glycoside catabolic process	IDA	17105727
GO:0016139	Process	Glycoside catabolic process	NAS	11489889
GO:0019898	Component	Extrinsic component of membrane	ISS
GO:0021954	Process	Central nervous system neuron development	IMP	23332916
GO:0030259	Process	Lipid glycosylation	ISS
GO:0030833	Process	Regulation of actin filament polymerization	ISS
GO:0031113	Process	Regulation of microtubule polymerization	ISS
GO:0042406	Component	Extrinsic component of endoplasmic reticulum membrane	ISS
GO:0046527	Function	Glucosyltransferase activity	ISS
GO:0050295	Function	Steryl-beta-glucosidase activity	ISS
GO:0090498	Component	Extrinsic component of Golgi membrane	ISS
GO:0097035	Process	Regulation of membrane lipid distribution	ISS

Other IDs

• MIM: 609471
• HGNC: 18986
• e!Ensembl: ENSG00000070610

Protein

• UniProt ID: Q9HCG7
• Protein name: Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Bile acid beta-glucosidase GBA2) (Bile acid glucosyl transferase GBA2) (Cholesterol glucosyltransferase GBA2) (EC 2.4.1.-) (Cholesteryl-beta-glucosid
• Protein function: Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12215	Glyco_hydr_116N	151 → 455	beta-glucosidase 2, glycosyl-hydrolase family 116 N-term	Family
  PF04685	DUF608	521 → 886	Glycosyl-hydrolase family 116, catalytic region	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:11489889). Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung (PubMed:11489889). Detectable in colon, thymus and peri
• Sequence:

  MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCC
  NPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLR
  YLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMY
  QHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQ
  LPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
  APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQ
  QVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG
  AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSAL
  FNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVH
  FYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
  EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDK
  DHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILS
  RGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVR
  ALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE
  GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
  PKVKQGTGLRTGPMFGPKEAMANLSPE

• Sequence length: 927

Pathways

KEGG:

Other glycan degradation
Sphingolipid metabolism
Metabolic pathways

Reactome:

Glycosphingolipid metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Mild Mental Retardation	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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 46	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	28832565, 23332916, 26220345, 24252062, 28052128, 30308956, 23332917

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Peripheral axonal neuropathy	Peripheral axonal neuropathy			ClinVar
Spastic Paraplegia	hereditary spastic paraplegia 46			GenCC
Cerebellar Ataxia With Spasticity	autosomal recessive cerebellar ataxia with late-onset spasticity			GenCC
Diabetes	Diabetes			GWAS
Parkinson disease	Parkinson disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	24337409
Carcinoma Non Small Cell Lung	Associate	32859637
Cataract	Associate	28052128
Cerebellar Ataxia	Associate	23332917, 28052128, 30308956
Charcot Marie Tooth Disease	Associate	26492578
Cystic Fibrosis	Associate	29333001
Dermatitis Atopic	Inhibit	35462437
Fractures Spontaneous	Associate	32492073
Gaucher Disease	Associate	23332917, 28052128
Genetic Diseases Inborn	Associate	26492578
Heredodegenerative Disorders Nervous System	Associate	32492073
Intellectual Disability	Associate	28052128
Muscle Spasticity	Associate	23332917
Neoplastic Syndromes Hereditary	Associate	24337409
Neurologic Manifestations	Associate	30308956
NOG Related Symphalangism Spectrum Disorder	Associate	24337409
Parkinson Disease	Associate	31703585
Peripheral Nervous System Diseases	Associate	26556829
Prodromal Symptoms	Associate	32859637
Sleep Deprivation	Associate	32492073
Spastic Ataxia	Associate	23332917, 30308956, 32492073, 32937819
Spastic Paraplegia Hereditary	Associate	24337409, 26492578, 26556829, 29980238, 30308956, 32492073
Spinocerebellar Ataxia Autosomal Recessive 8	Associate	23332917
Spinocerebellar Degenerations	Associate	24337409, 28052128, 30308956, 32492073