Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57704
Gene name	Glucosylceramidase beta 2
Gene symbol	GBA2
Synonyms (NCBI Gene)	AD035NLGaseSPG46
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

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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

408

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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

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0004336	Function	Galactosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	IDA	17080196
GO:0004348	Function	Glucosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	TAS
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	11489889
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IDA	17080196
GO:0006680	Process	Glucosylceramide catabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IMP	30308956
GO:0007417	Process	Central nervous system development	IBA
GO:0008202	Process	Steroid metabolic process	IEA
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
GO:0008422	Function	Beta-glucosidase activity	IDA	11489889
GO:0008422	Function	Beta-glucosidase activity	IEA
GO:0016020	Component	Membrane	IDA	17105727
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11489889
GO:0016139	Process	Glycoside catabolic process	IDA	17105727
GO:0016139	Process	Glycoside catabolic process	NAS	11489889
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0021954	Process	Central nervous system neuron development	IMP	23332916
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	ISS
GO:0031113	Process	Regulation of microtubule polymerization	IEA
GO:0031113	Process	Regulation of microtubule polymerization	ISS
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046527	Function	Glucosyltransferase activity	IEA
GO:0046527	Function	Glucosyltransferase activity	ISS
GO:0050295	Function	Steryl-beta-glucosidase activity	IEA
GO:0050295	Function	Steryl-beta-glucosidase activity	ISS
GO:0097035	Process	Regulation of membrane lipid distribution	IEA
GO:0097035	Process	Regulation of membrane lipid distribution	ISS

MIM	HGNC	e!Ensembl
609471	18986	ENSG00000070610

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

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Sphingolipid metabolism Metabolic pathways		Glycosphingolipid metabolism

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEP290-related ciliopathy	Likely pathogenic	rs2490908908	RCV003328528	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GBA2-related disorder	Pathogenic	rs1448182827	RCV004758048	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs398123012, rs398123015	RCV000515985 RCV000515888	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 46	Likely pathogenic; Pathogenic	rs2490823676, rs1347178549, rs1188035446, rs2490908908, rs759632589, rs398123012, rs398123013, rs1588010939, rs398123014, rs398123015, rs1448182827, rs1588022768, rs1588023668, rs398123064, rs2131945469 View all (3 more)	RCV002465072 RCV003145809 RCV003314394 RCV003318467 RCV003994807 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1008414642	RCV003389219	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2131972800, rs2131951562, rs1354082523, rs2490864574, rs779331792, rs2490837980, rs749211700, rs2490887236, rs1172818341, rs200268523, rs398123013, rs398123014, rs1448182827, rs1588001500, rs1011987148 View all (3 more)	RCV001377075 RCV002007263 RCV002007509 RCV002871154 RCV003018767 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMPLEX HEREDITARY SPASTIC PARAPLEGIA	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraparesis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24337409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebellar ataxia with late-onset spasticity	Cerebellar Ataxia With Spasticity	ORPHANET_DG	23332917		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebellar ataxia with late-onset spasticity	Cerebellar Ataxia With Spasticity	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	20593214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 46	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	28052128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23332917, 28052128, 30308956	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29333001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	29333001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	22659419, 23151684, 28052128, 28258214, 30600575, 30864417, 31562193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	23332917, 28052128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31022733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24337409, 29524657, 30662006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30176611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20593214, 26220345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26220345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28052128	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mental impairment	Mental Depression	BEFREE	20593214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23073830		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30662006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30872158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28847804		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	31703585	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	32492073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	23332917, 30308956, 32492073, 32937819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	24252062, 30176611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26220345, 29524657		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	23332916, 24252062, 28052128		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	23332916, 23332917, 24252062, 26220345, 30308956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	23332916, 23332917, 24252062, 26220345, 30308956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23332916		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	26220345		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	24337409, 26492578, 26556829, 29980238, 30308956, 32492073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	23332916, 24252062, 26220345, 26582417, 28195350, 30662006		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Autosomal Recessive 8	Spinocerebellar ataxia	Pubtator	23332917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22659419		★★★★★ ★☆☆☆☆ Found in Text Mining only

GBA2 (glucosylceramidase beta 2)