SGCB (sarcoglycan beta)

Gene

• Entrez ID: 6443
• Gene name: Sarcoglycan beta
• Gene symbol: SGCB
• Synonyms (NCBI Gene): A3b, LGMD2E, LGMDR4, SGC
• Chromosome: 4
• Chromosome location: 4q12
• Summary: This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936383	G>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104893868	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs104893869	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893870	A>C	Pathogenic	Missense variant, coding sequence variant
rs104893871	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs142801720	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149121189	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs150518260	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs371706268	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123262	T>C	Pathogenic	Missense variant, initiator codon variant
rs398123263	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs555514820	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs747809412	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs748602445	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs752492870	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs762114570	TTCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762831481	AA>-,A,AAA	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775458201	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant
rs780596734	T>C	Likely-pathogenic	Splice acceptor variant
rs796065319	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886042503	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, initiator codon variant
rs886042546	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs936193061	C>T	Likely-pathogenic	Intron variant
rs998759536	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1013015106	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057516360	ACAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516515	GAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517051	TA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517064	TTCTG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057517205	ATCTTCCCGCGCCCGCCGCCGCC>-	Likely-pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant
rs1264362642	C>A,T	Likely-pathogenic	Splice donor variant
rs1448040082	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1553940079	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553940262	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553940274	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553940661	A>C	Likely-pathogenic	Splice donor variant
rs1553940663	C>A	Likely-pathogenic	Splice donor variant
rs1553940687	CTCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553940957	C>T	Likely-pathogenic	Splice donor variant
rs1553940963	->CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG	Uncertain-significance, pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs1578125670	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578126090	AA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016183	hsa-miR-590-3p	Sequencing	20371350
MIRT024317	hsa-miR-215-5p	Microarray	19074876
MIRT026183	hsa-miR-192-5p	Microarray	19074876
MIRT030684	hsa-miR-21-5p	Microarray	18591254
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342824	hsa-miR-1258	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT1342829	hsa-miR-130a	CLIP-seq
MIRT1342830	hsa-miR-130b	CLIP-seq
MIRT1342831	hsa-miR-133a	CLIP-seq
MIRT1342832	hsa-miR-133b	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342834	hsa-miR-148a	CLIP-seq
MIRT1342835	hsa-miR-148b	CLIP-seq
MIRT1342836	hsa-miR-152	CLIP-seq
MIRT1342837	hsa-miR-1825	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342840	hsa-miR-193a-5p	CLIP-seq
MIRT1342841	hsa-miR-196a	CLIP-seq
MIRT1342842	hsa-miR-196b	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342845	hsa-miR-219-1-3p	CLIP-seq
MIRT1342846	hsa-miR-224	CLIP-seq
MIRT1342847	hsa-miR-24	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342849	hsa-miR-301a	CLIP-seq
MIRT1342850	hsa-miR-301b	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342852	hsa-miR-3126-3p	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342854	hsa-miR-3152-3p	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342856	hsa-miR-3165	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342863	hsa-miR-3660	CLIP-seq
MIRT1342864	hsa-miR-3666	CLIP-seq
MIRT1342865	hsa-miR-3671	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342873	hsa-miR-3927	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342877	hsa-miR-4295	CLIP-seq
MIRT1342878	hsa-miR-4299	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT1342880	hsa-miR-4314	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342884	hsa-miR-4456	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342891	hsa-miR-4526	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342893	hsa-miR-454	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342895	hsa-miR-4659a-3p	CLIP-seq
MIRT1342896	hsa-miR-4659b-3p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT1342901	hsa-miR-4699-5p	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342908	hsa-miR-4755-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT1342916	hsa-miR-509-3p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342921	hsa-miR-520d-5p	CLIP-seq
MIRT1342922	hsa-miR-524-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT1342924	hsa-miR-548an	CLIP-seq
MIRT1342925	hsa-miR-548q	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT1342927	hsa-miR-571	CLIP-seq
MIRT1342928	hsa-miR-579	CLIP-seq
MIRT1342929	hsa-miR-628-5p	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT2101352	hsa-miR-1227	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT2101354	hsa-miR-3133	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2101356	hsa-miR-4464	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT2101357	hsa-miR-4511	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2101358	hsa-miR-4748	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2101362	hsa-miR-600	CLIP-seq
MIRT2101363	hsa-miR-627	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342829	hsa-miR-130a	CLIP-seq
MIRT1342830	hsa-miR-130b	CLIP-seq
MIRT2325754	hsa-miR-1323	CLIP-seq
MIRT1342831	hsa-miR-133a	CLIP-seq
MIRT1342832	hsa-miR-133b	CLIP-seq
MIRT1342834	hsa-miR-148a	CLIP-seq
MIRT1342835	hsa-miR-148b	CLIP-seq
MIRT1342836	hsa-miR-152	CLIP-seq
MIRT1342837	hsa-miR-1825	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2325755	hsa-miR-199a-5p	CLIP-seq
MIRT2325756	hsa-miR-199b-5p	CLIP-seq
MIRT2325757	hsa-miR-19a	CLIP-seq
MIRT2325758	hsa-miR-19b	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342847	hsa-miR-24	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342849	hsa-miR-301a	CLIP-seq
MIRT1342850	hsa-miR-301b	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342864	hsa-miR-3666	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342877	hsa-miR-4295	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342893	hsa-miR-454	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342895	hsa-miR-4659a-3p	CLIP-seq
MIRT1342896	hsa-miR-4659b-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342908	hsa-miR-4755-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2325759	hsa-miR-520f	CLIP-seq
MIRT2325760	hsa-miR-548o	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT1342814	hsa-let-7a	CLIP-seq
MIRT1342815	hsa-let-7b	CLIP-seq
MIRT1342816	hsa-let-7c	CLIP-seq
MIRT1342817	hsa-let-7d	CLIP-seq
MIRT1342818	hsa-let-7e	CLIP-seq
MIRT1342819	hsa-let-7f	CLIP-seq
MIRT1342820	hsa-let-7g	CLIP-seq
MIRT1342821	hsa-let-7i	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342843	hsa-miR-202	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT1342855	hsa-miR-3153	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342861	hsa-miR-342-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342863	hsa-miR-3660	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342876	hsa-miR-4284	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT1342883	hsa-miR-4425	CLIP-seq
MIRT1342885	hsa-miR-4458	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342889	hsa-miR-4500	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342891	hsa-miR-4526	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT1342898	hsa-miR-4668-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342934	hsa-miR-98	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT2101352	hsa-miR-1227	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT2621470	hsa-miR-129-5p	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT2621471	hsa-miR-1909	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2621472	hsa-miR-2052	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT2621473	hsa-miR-296-3p	CLIP-seq
MIRT2621474	hsa-miR-296-5p	CLIP-seq
MIRT2621475	hsa-miR-3064-3p	CLIP-seq
MIRT2621476	hsa-miR-3120-3p	CLIP-seq
MIRT2621477	hsa-miR-3120-5p	CLIP-seq
MIRT2621478	hsa-miR-3121-5p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT2621479	hsa-miR-3149	CLIP-seq
MIRT2621480	hsa-miR-3170	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT2621481	hsa-miR-3194-3p	CLIP-seq
MIRT2621482	hsa-miR-326	CLIP-seq
MIRT2621483	hsa-miR-330-5p	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT2621484	hsa-miR-3607-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT2621485	hsa-miR-3613-3p	CLIP-seq
MIRT2621486	hsa-miR-3653	CLIP-seq
MIRT2621487	hsa-miR-3658	CLIP-seq
MIRT2621488	hsa-miR-3664-5p	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT2621489	hsa-miR-3681	CLIP-seq
MIRT2621490	hsa-miR-3686	CLIP-seq
MIRT2621491	hsa-miR-3688-5p	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT2621492	hsa-miR-371-5p	CLIP-seq
MIRT2621493	hsa-miR-371b-5p	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT2621494	hsa-miR-3908	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT2621495	hsa-miR-3921	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2621496	hsa-miR-3942-5p	CLIP-seq
MIRT2621497	hsa-miR-3977	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT2621498	hsa-miR-4260	CLIP-seq
MIRT2621499	hsa-miR-4282	CLIP-seq
MIRT2621500	hsa-miR-4291	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT2621501	hsa-miR-4313	CLIP-seq
MIRT2621502	hsa-miR-4318	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT2621503	hsa-miR-4328	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT2621504	hsa-miR-4424	CLIP-seq
MIRT2621505	hsa-miR-4432	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2621506	hsa-miR-4471	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT2621507	hsa-miR-4519	CLIP-seq
MIRT2621508	hsa-miR-4522	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2621509	hsa-miR-4641	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT2621510	hsa-miR-4653-5p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT2621511	hsa-miR-4667-5p	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT2621512	hsa-miR-4695-3p	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT2621513	hsa-miR-4700-5p	CLIP-seq
MIRT2621514	hsa-miR-4703-5p	CLIP-seq
MIRT2621515	hsa-miR-4719	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT2621516	hsa-miR-4727-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2621517	hsa-miR-4766-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT2621518	hsa-miR-4769-3p	CLIP-seq
MIRT2621519	hsa-miR-4775	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT2621520	hsa-miR-4778-3p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT2621521	hsa-miR-4781-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2621522	hsa-miR-494	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT2621523	hsa-miR-545	CLIP-seq
MIRT2621524	hsa-miR-548ac	CLIP-seq
MIRT2621525	hsa-miR-548ae	CLIP-seq
MIRT2621526	hsa-miR-548aj	CLIP-seq
MIRT2621527	hsa-miR-548am	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT2621528	hsa-miR-548d-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2621529	hsa-miR-548x	CLIP-seq
MIRT2621530	hsa-miR-548z	CLIP-seq
MIRT2621531	hsa-miR-568	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2621532	hsa-miR-618	CLIP-seq
MIRT2101363	hsa-miR-627	CLIP-seq
MIRT2621533	hsa-miR-637	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT2621534	hsa-miR-924	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT2621535	hsa-miR-942	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq
MIRT1342822	hsa-miR-1206	CLIP-seq
MIRT1342823	hsa-miR-1228	CLIP-seq
MIRT1342825	hsa-miR-125a-5p	CLIP-seq
MIRT1342826	hsa-miR-125b	CLIP-seq
MIRT2101353	hsa-miR-1273	CLIP-seq
MIRT1342827	hsa-miR-1275	CLIP-seq
MIRT1342828	hsa-miR-1291	CLIP-seq
MIRT2621470	hsa-miR-129-5p	CLIP-seq
MIRT1342833	hsa-miR-146b-3p	CLIP-seq
MIRT1342838	hsa-miR-1827	CLIP-seq
MIRT2621471	hsa-miR-1909	CLIP-seq
MIRT1342839	hsa-miR-1915	CLIP-seq
MIRT2621472	hsa-miR-2052	CLIP-seq
MIRT1342844	hsa-miR-2114	CLIP-seq
MIRT1342848	hsa-miR-2467-3p	CLIP-seq
MIRT2621473	hsa-miR-296-3p	CLIP-seq
MIRT2621474	hsa-miR-296-5p	CLIP-seq
MIRT2621475	hsa-miR-3064-3p	CLIP-seq
MIRT2621476	hsa-miR-3120-3p	CLIP-seq
MIRT2621477	hsa-miR-3120-5p	CLIP-seq
MIRT2621478	hsa-miR-3121-5p	CLIP-seq
MIRT1342851	hsa-miR-3122	CLIP-seq
MIRT1342853	hsa-miR-3147	CLIP-seq
MIRT2621479	hsa-miR-3149	CLIP-seq
MIRT2621480	hsa-miR-3170	CLIP-seq
MIRT1342857	hsa-miR-3192	CLIP-seq
MIRT2621481	hsa-miR-3194-3p	CLIP-seq
MIRT2621482	hsa-miR-326	CLIP-seq
MIRT2621483	hsa-miR-330-5p	CLIP-seq
MIRT1342858	hsa-miR-331-5p	CLIP-seq
MIRT1342859	hsa-miR-335	CLIP-seq
MIRT1342860	hsa-miR-339-5p	CLIP-seq
MIRT2621484	hsa-miR-3607-3p	CLIP-seq
MIRT1342862	hsa-miR-3612	CLIP-seq
MIRT2621485	hsa-miR-3613-3p	CLIP-seq
MIRT2621486	hsa-miR-3653	CLIP-seq
MIRT2621487	hsa-miR-3658	CLIP-seq
MIRT2621488	hsa-miR-3664-5p	CLIP-seq
MIRT1342866	hsa-miR-3672	CLIP-seq
MIRT2621489	hsa-miR-3681	CLIP-seq
MIRT2621490	hsa-miR-3686	CLIP-seq
MIRT2621491	hsa-miR-3688-5p	CLIP-seq
MIRT1342867	hsa-miR-3689a-3p	CLIP-seq
MIRT1342868	hsa-miR-3689c	CLIP-seq
MIRT1342869	hsa-miR-3714	CLIP-seq
MIRT2621492	hsa-miR-371-5p	CLIP-seq
MIRT2621493	hsa-miR-371b-5p	CLIP-seq
MIRT1342870	hsa-miR-375	CLIP-seq
MIRT2621494	hsa-miR-3908	CLIP-seq
MIRT1342871	hsa-miR-3913-5p	CLIP-seq
MIRT2621495	hsa-miR-3921	CLIP-seq
MIRT1342872	hsa-miR-3926	CLIP-seq
MIRT1342874	hsa-miR-3929	CLIP-seq
MIRT2621496	hsa-miR-3942-5p	CLIP-seq
MIRT2621497	hsa-miR-3977	CLIP-seq
MIRT2101355	hsa-miR-4252	CLIP-seq
MIRT1342875	hsa-miR-4257	CLIP-seq
MIRT2621498	hsa-miR-4260	CLIP-seq
MIRT2621499	hsa-miR-4282	CLIP-seq
MIRT2621500	hsa-miR-4291	CLIP-seq
MIRT1342879	hsa-miR-4310	CLIP-seq
MIRT2621501	hsa-miR-4313	CLIP-seq
MIRT2621502	hsa-miR-4318	CLIP-seq
MIRT1342881	hsa-miR-4319	CLIP-seq
MIRT2621503	hsa-miR-4328	CLIP-seq
MIRT1342882	hsa-miR-4419b	CLIP-seq
MIRT2621504	hsa-miR-4424	CLIP-seq
MIRT2621505	hsa-miR-4432	CLIP-seq
MIRT1342886	hsa-miR-4461	CLIP-seq
MIRT2621506	hsa-miR-4471	CLIP-seq
MIRT1342887	hsa-miR-4478	CLIP-seq
MIRT1342888	hsa-miR-4488	CLIP-seq
MIRT1342890	hsa-miR-4514	CLIP-seq
MIRT2621507	hsa-miR-4519	CLIP-seq
MIRT2621508	hsa-miR-4522	CLIP-seq
MIRT1342892	hsa-miR-4537	CLIP-seq
MIRT2621509	hsa-miR-4641	CLIP-seq
MIRT1342894	hsa-miR-4649-3p	CLIP-seq
MIRT2621510	hsa-miR-4653-5p	CLIP-seq
MIRT1342897	hsa-miR-4665-5p	CLIP-seq
MIRT2621511	hsa-miR-4667-5p	CLIP-seq
MIRT2459233	hsa-miR-4684-5p	CLIP-seq
MIRT1342899	hsa-miR-4692	CLIP-seq
MIRT2621512	hsa-miR-4695-3p	CLIP-seq
MIRT1342900	hsa-miR-4697-5p	CLIP-seq
MIRT2621513	hsa-miR-4700-5p	CLIP-seq
MIRT2621514	hsa-miR-4703-5p	CLIP-seq
MIRT2621515	hsa-miR-4719	CLIP-seq
MIRT1342902	hsa-miR-4722-5p	CLIP-seq
MIRT1342903	hsa-miR-4726-3p	CLIP-seq
MIRT2621516	hsa-miR-4727-5p	CLIP-seq
MIRT1342904	hsa-miR-4728-5p	CLIP-seq
MIRT1342905	hsa-miR-4729	CLIP-seq
MIRT1342906	hsa-miR-4732-3p	CLIP-seq
MIRT1342907	hsa-miR-4738-3p	CLIP-seq
MIRT2621517	hsa-miR-4766-3p	CLIP-seq
MIRT1342909	hsa-miR-4768-3p	CLIP-seq
MIRT2621518	hsa-miR-4769-3p	CLIP-seq
MIRT2621519	hsa-miR-4775	CLIP-seq
MIRT1342910	hsa-miR-4777-5p	CLIP-seq
MIRT2621520	hsa-miR-4778-3p	CLIP-seq
MIRT1342911	hsa-miR-4778-5p	CLIP-seq
MIRT2621521	hsa-miR-4781-3p	CLIP-seq
MIRT1342912	hsa-miR-4786-5p	CLIP-seq
MIRT2101359	hsa-miR-4793-3p	CLIP-seq
MIRT1342913	hsa-miR-4793-5p	CLIP-seq
MIRT1342914	hsa-miR-485-5p	CLIP-seq
MIRT1342915	hsa-miR-490-3p	CLIP-seq
MIRT2621522	hsa-miR-494	CLIP-seq
MIRT2101360	hsa-miR-508-5p	CLIP-seq
MIRT1342917	hsa-miR-518d-5p	CLIP-seq
MIRT1342918	hsa-miR-519b-5p	CLIP-seq
MIRT1342919	hsa-miR-519c-5p	CLIP-seq
MIRT1342920	hsa-miR-520c-5p	CLIP-seq
MIRT1342923	hsa-miR-526a	CLIP-seq
MIRT2621523	hsa-miR-545	CLIP-seq
MIRT2621524	hsa-miR-548ac	CLIP-seq
MIRT2621525	hsa-miR-548ae	CLIP-seq
MIRT2621526	hsa-miR-548aj	CLIP-seq
MIRT2621527	hsa-miR-548am	CLIP-seq
MIRT2459234	hsa-miR-548c-3p	CLIP-seq
MIRT2621528	hsa-miR-548d-3p	CLIP-seq
MIRT1342926	hsa-miR-548s	CLIP-seq
MIRT2621529	hsa-miR-548x	CLIP-seq
MIRT2621530	hsa-miR-548z	CLIP-seq
MIRT2621531	hsa-miR-568	CLIP-seq
MIRT2101361	hsa-miR-582-5p	CLIP-seq
MIRT2621532	hsa-miR-618	CLIP-seq
MIRT2621533	hsa-miR-637	CLIP-seq
MIRT1342930	hsa-miR-650	CLIP-seq
MIRT1342931	hsa-miR-670	CLIP-seq
MIRT2101364	hsa-miR-766	CLIP-seq
MIRT1342932	hsa-miR-769-5p	CLIP-seq
MIRT1342933	hsa-miR-940	CLIP-seq
MIRT2621535	hsa-miR-942	CLIP-seq
MIRT2433077	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	28514442, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7581448
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	7581448, 8968749
GO:0009749	Process	Response to glucose	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	TAS	7581448
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0044381	Process	Glucose import in response to insulin stimulus	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA

Other IDs

• MIM: 600900
• HGNC: 10806
• e!Ensembl: ENSG00000163069

Protein

• UniProt ID: Q16585
• Protein name: Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-associated glycoprotein) (43DAG) (A3b)
• Protein function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04790	Sarcoglycan_1	54 → 303	Sarcoglycan complex subunit protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.
• Sequence:

  MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGR
  KGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIH
  PLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILF
  STDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE
  FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV
  TSQNMGCQISDNPCGNTH

• Sequence length: 318

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

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
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs1484409119, rs398123262	RCV001814546 RCV001814534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs751427686, rs28936383, rs751427729, rs2475221832, rs1057516515, rs747809412, rs555514820, rs1013015106, rs762652676	RCV004526969 RCV004998080 RCV004998081 RCV004527265 RCV004999362 RCV004999363 RCV001779022 RCV005000388 RCV002222588	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2E	Pathogenic; Likely pathogenic	rs1263020044, rs750773622, rs2109372060, rs2109372084, rs771814273, rs2109375847, rs1484409119, rs2109380938, rs2109370093, rs2109376007, rs1737176330, rs2109376054, rs2109380824, rs2109380910, rs2109370922, rs2109369924, rs2109380796, rs2109371877, rs773554421, rs1553940661, rs2109380946, rs2475212208, rs2475230575, rs2475230551, rs796065319, rs751427686, rs1737204592, rs2475230634, rs2475221549, rs2475219892, rs2475221946, rs2475220056, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs886042503, rs886042546, rs752492870, rs2109370066, rs2475230212, rs2475222188, rs2475230629, rs2475221951, rs2475219834, rs2475230407, rs1057517205, rs2475221407, rs2475237449, rs2475223584, rs2475221776, rs2475223506, rs2475221590, rs2475219928, rs2475230289, rs2475237489, rs2475221695, rs765139006, rs2475221626, rs2475237395, rs2475222171, rs1737453248, rs1737147925, rs2475221832, rs2475230035, rs2475237480, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1553940687, rs775458201, rs1553940274, rs555514820, rs150518260, rs1013015106, rs1553939675, rs1365923535, rs1448040082, rs1264362642, rs1553940262, rs1553940079, rs779516489, rs762652676, rs1553940660, rs1553940663, rs1553940957, rs762114570, rs936193061, rs1578126090, rs1737457235, rs1737305761, rs398123262	RCV001388261 RCV001390947 RCV001390088 RCV001387443 RCV001387067 RCV005409823 RCV001873815 RCV001866182 RCV001733648 RCV001784969 RCV001783736 RCV001920780 RCV001953298 RCV001893276 RCV001905451 RCV001993274 RCV002007307 RCV001985768 RCV001939636 RCV001972590 RCV002250345 RCV002247151 RCV002466749 RCV002308233 RCV002307228 RCV001852106 RCV002664341 RCV002651826 RCV002663615 RCV002810743 RCV002853050 RCV003040328 RCV003044685 RCV000009250 RCV000009251 RCV000009252 RCV000009253 RCV000009254 RCV000009255 RCV000009256 RCV000009257 RCV000812020 RCV003475899 RCV000808980 RCV003388305 RCV003466382 RCV003463546 RCV003466383 RCV003472675 RCV003472676 RCV003472677 RCV003472678 RCV003472679 RCV003472680 RCV003472681 RCV003472683 RCV003472684 RCV003472685 RCV003472686 RCV003472687 RCV003486342 RCV003510512 RCV003509899 RCV003510799 RCV003509948 RCV003621061 RCV003621326 RCV003821082 RCV003831283 RCV004006232 RCV005038706 RCV004576164 RCV004573579 RCV000410503 RCV000411845 RCV000410084 RCV000412246 RCV000411828 RCV000411494 RCV000412344 RCV000551664 RCV000530736 RCV000544134 RCV000554563 RCV000813259 RCV000177020 RCV001209561 RCV000642668 RCV000642670 RCV000642669 RCV000669104 RCV000671719 RCV000671402 RCV000674583 RCV000666951 RCV000670539 RCV000669992 RCV000667723 RCV000665594 RCV000672896 RCV000824267 RCV000987446 RCV000987447 RCV001069412 RCV001039228 RCV001204851 RCV001049531	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs150518260	RCV005862742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy, recessive	Likely pathogenic; Pathogenic	rs752492870	RCV000353900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic	rs398123262	RCV001594381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Qualitative or quantitative defects of beta-sarcoglycan	Likely pathogenic; Pathogenic	rs886042503, rs752492870, rs150518260	RCV000778734 RCV000778733 RCV000340831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sialidosis	Likely pathogenic; Pathogenic	rs751427686	RCV004540598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BETA-SARCOGLYCAN-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-SARCOGLYCANOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SGCB-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE I MUCOLIPIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	BEFREE	10069710, 9192266		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28768281		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28768281		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28560435		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	16183658		★☆☆☆☆ Found in Text Mining only
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Beta-sarcoglycanopathy	Limb-girdle muscular dystrophy	BEFREE	10441321, 25862795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-sarcoglycanopathy	Limb-girdle muscular dystrophy	CLINVAR_DG	10942431, 18285821, 18996010, 20071171, 22095924, 9032047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	10662809	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	21037199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	28284983, 29476695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	21037199		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	GENOMICS_ENGLAND_DG	23349452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	19282655, 21750868, 22320835, 22470047, 22733362, 23298486, 23609195, 24676340, 25760482, 28337870, 31799650		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	15112359		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	10662809	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10662809, 25862795	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	27048385	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31789419		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	BEFREE	10069710		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	BEFREE	10069710, 20071171, 26214262, 28284983, 29476695, 8968749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	10942431, 10993494, 11369190, 12566530, 12868499, 15938573, 15938574, 17994539, 18285821, 18996010, 19770540, 20071171, 21480868, 22095924, 23349452, 25135358, 25337728, 25525159, 25862795, 26206375, 26404900, 28403181, 7581448, 7581449, 9032047, 9565988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	30345904, 8968749, 9032047, 9565988, 9631401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	22733362, 23298486, 23609195, 24676340, 25760482, 28337870		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11833071, 24068565, 28677810, 29075795, 29328428, 29756996, 29845222, 29901126, 30015872, 30569124, 31599413		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25120098, 27459970, 28881386, 28990095		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28881386		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	16088906, 16934466, 18996010		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	16183658, 19056483, 25862795, 28403181, 30312761, 30788312, 7581448, 8899051, 8968749		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10407854, 10441321, 7581449, 8943294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	10069710		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	21037199		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22320835, 29048657, 29110119		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14504408		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	16183658		★☆☆☆☆ Found in Text Mining only
Pelvic girdle muscle atrophy	Pelvic girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30314482	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	10069710, 28687063, 30764848, 9192266		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	18535179, 30764848, 33386810, 37699968	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	39755676	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	9429136	Stimulate	★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	23588386		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11833071, 19914791, 24068565, 28677810, 29075795, 29328428, 29756996, 29845222, 29901126, 30015872, 30569124, 31599413		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12436434	Associate	★☆☆☆☆ Found in Text Mining only