SGCD (sarcoglycan delta)

Gene

• Entrez ID: 6444
• Gene name: Sarcoglycan delta
• Gene symbol: SGCD
• Synonyms (NCBI Gene): 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD
• Chromosome: 5
• Chromosome location: 5q33.2-q33.3
• Summary: The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74846539	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121909295	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121909296	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121909297	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909298	T>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs180898690	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs190935424	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200451694	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs200670993	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs267607045	G>C	Pathogenic	Missense variant, coding sequence variant
rs367616773	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs368838376	G>A,C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, synonymous variant
rs376141942	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs397516338	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs397517921	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517923	C>A,T	Likely-pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs727503421	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs727503422	G>A	Likely-pathogenic	Splice donor variant
rs727504584	A>C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs747018859	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs749273088	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750150347	A>G	Likely-pathogenic	Intron variant
rs756467431	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs886043031	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886043460	T>A	Pathogenic	Coding sequence variant, stop gained
rs1175344271	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1267810339	G>A	Likely-pathogenic	Splice donor variant
rs1369919728	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1554094927	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Splice acceptor variant
rs1554094947	->TGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1554137109	A>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1554137130	G>T	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, splice donor variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018675	hsa-miR-335-5p	Microarray	18185580
MIRT712960	hsa-miR-320e	HITS-CLIP	19536157
MIRT712959	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT712958	hsa-miR-33a-3p	HITS-CLIP	19536157
MIRT712956	hsa-miR-6759-3p	HITS-CLIP	19536157
MIRT712957	hsa-miR-3152-3p	HITS-CLIP	19536157
MIRT712955	hsa-miR-4477a	HITS-CLIP	19536157
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526789	hsa-miR-4307	PAR-CLIP	22012620
MIRT526788	hsa-miR-8063	PAR-CLIP	22012620
MIRT526787	hsa-miR-4698	PAR-CLIP	22012620
MIRT526786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT526785	hsa-miR-6830-3p	PAR-CLIP	22012620
MIRT526784	hsa-miR-511-5p	PAR-CLIP	22012620
MIRT526783	hsa-miR-607	PAR-CLIP	22012620
MIRT526782	hsa-miR-1305	PAR-CLIP	22012620
MIRT442966	hsa-miR-5680	PAR-CLIP	22100165
MIRT442965	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442964	hsa-miR-3617-5p	PAR-CLIP	22100165
MIRT442963	hsa-miR-641	PAR-CLIP	22100165
MIRT442962	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT442960	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT442961	hsa-miR-6089	PAR-CLIP	22100165
MIRT442959	hsa-miR-4480	PAR-CLIP	22100165
MIRT442958	hsa-miR-3926	PAR-CLIP	22100165
MIRT442957	hsa-miR-604	PAR-CLIP	22100165
MIRT442956	hsa-miR-6762-3p	PAR-CLIP	22100165
MIRT442955	hsa-miR-4316	PAR-CLIP	22100165
MIRT442954	hsa-miR-1294	PAR-CLIP	22100165
MIRT442953	hsa-miR-647	PAR-CLIP	22100165
MIRT526782	hsa-miR-1305	HITS-CLIP	27418678
MIRT640450	hsa-miR-335-3p	HITS-CLIP	27418678
MIRT617905	hsa-miR-515-5p	HITS-CLIP	27418678
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	27418678
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	27418678
MIRT617911	hsa-miR-5695	HITS-CLIP	27418678
MIRT526783	hsa-miR-607	HITS-CLIP	27418678
MIRT617906	hsa-miR-629-5p	HITS-CLIP	27418678
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	27418678
MIRT526788	hsa-miR-8063	HITS-CLIP	27418678
MIRT712960	hsa-miR-320e	HITS-CLIP	19536157
MIRT712959	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT712958	hsa-miR-33a-3p	HITS-CLIP	19536157
MIRT712956	hsa-miR-6759-3p	HITS-CLIP	19536157
MIRT712957	hsa-miR-3152-3p	HITS-CLIP	19536157
MIRT712955	hsa-miR-4477a	HITS-CLIP	19536157
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT640450	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT617913	hsa-miR-4506	HITS-CLIP	23824327
MIRT526788	hsa-miR-8063	HITS-CLIP	23824327
MIRT526787	hsa-miR-4698	HITS-CLIP	23824327
MIRT617912	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT617911	hsa-miR-5695	HITS-CLIP	23824327
MIRT617910	hsa-miR-3199	HITS-CLIP	23824327
MIRT617909	hsa-miR-8052	HITS-CLIP	23824327
MIRT617908	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT617907	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT617906	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT617905	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT617904	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT617903	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT526783	hsa-miR-607	HITS-CLIP	23824327
MIRT526782	hsa-miR-1305	HITS-CLIP	23824327
MIRT526789	hsa-miR-4307	PAR-CLIP	22012620
MIRT526788	hsa-miR-8063	PAR-CLIP	22012620
MIRT526787	hsa-miR-4698	PAR-CLIP	22012620
MIRT526786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT526785	hsa-miR-6830-3p	PAR-CLIP	22012620
MIRT526784	hsa-miR-511-5p	PAR-CLIP	22012620
MIRT526783	hsa-miR-607	PAR-CLIP	22012620
MIRT526782	hsa-miR-1305	PAR-CLIP	22012620
MIRT442966	hsa-miR-5680	PAR-CLIP	22100165
MIRT442965	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442964	hsa-miR-3617-5p	PAR-CLIP	22100165
MIRT442963	hsa-miR-641	PAR-CLIP	22100165
MIRT442962	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT442960	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT442961	hsa-miR-6089	PAR-CLIP	22100165
MIRT442959	hsa-miR-4480	PAR-CLIP	22100165
MIRT442958	hsa-miR-3926	PAR-CLIP	22100165
MIRT442957	hsa-miR-604	PAR-CLIP	22100165
MIRT442956	hsa-miR-6762-3p	PAR-CLIP	22100165
MIRT442955	hsa-miR-4316	PAR-CLIP	22100165
MIRT442954	hsa-miR-1294	PAR-CLIP	22100165
MIRT442953	hsa-miR-647	PAR-CLIP	22100165
MIRT1342935	hsa-miR-1179	CLIP-seq
MIRT1342936	hsa-miR-1234	CLIP-seq
MIRT1342937	hsa-miR-1279	CLIP-seq
MIRT1342938	hsa-miR-1291	CLIP-seq
MIRT1342939	hsa-miR-1323	CLIP-seq
MIRT1342940	hsa-miR-140-3p	CLIP-seq
MIRT1342941	hsa-miR-142-5p	CLIP-seq
MIRT1342942	hsa-miR-146a	CLIP-seq
MIRT1342943	hsa-miR-146b-5p	CLIP-seq
MIRT1342944	hsa-miR-2054	CLIP-seq
MIRT1342945	hsa-miR-2110	CLIP-seq
MIRT1342946	hsa-miR-23a	CLIP-seq
MIRT1342947	hsa-miR-23b	CLIP-seq
MIRT1342948	hsa-miR-23c	CLIP-seq
MIRT1342949	hsa-miR-3140-3p	CLIP-seq
MIRT1342950	hsa-miR-3150a-3p	CLIP-seq
MIRT1342951	hsa-miR-3161	CLIP-seq
MIRT1342952	hsa-miR-3175	CLIP-seq
MIRT1342953	hsa-miR-328	CLIP-seq
MIRT1342954	hsa-miR-342-3p	CLIP-seq
MIRT1342955	hsa-miR-3653	CLIP-seq
MIRT1342956	hsa-miR-3663-5p	CLIP-seq
MIRT1342957	hsa-miR-3688-3p	CLIP-seq
MIRT1342958	hsa-miR-3914	CLIP-seq
MIRT1342959	hsa-miR-410	CLIP-seq
MIRT1342960	hsa-miR-4260	CLIP-seq
MIRT1342961	hsa-miR-4272	CLIP-seq
MIRT1342962	hsa-miR-4328	CLIP-seq
MIRT1342963	hsa-miR-4419a	CLIP-seq
MIRT1342964	hsa-miR-4422	CLIP-seq
MIRT1342965	hsa-miR-4434	CLIP-seq
MIRT1342966	hsa-miR-4510	CLIP-seq
MIRT1342967	hsa-miR-4516	CLIP-seq
MIRT1342968	hsa-miR-4711-5p	CLIP-seq
MIRT1342969	hsa-miR-4722-3p	CLIP-seq
MIRT1342970	hsa-miR-4731-3p	CLIP-seq
MIRT1342971	hsa-miR-4801	CLIP-seq
MIRT1342972	hsa-miR-5096	CLIP-seq
MIRT1342973	hsa-miR-548o	CLIP-seq
MIRT1342974	hsa-miR-561	CLIP-seq
MIRT1342975	hsa-miR-582-3p	CLIP-seq
MIRT1342976	hsa-miR-599	CLIP-seq
MIRT1342977	hsa-miR-617	CLIP-seq
MIRT1342978	hsa-miR-627	CLIP-seq
MIRT1342979	hsa-miR-924	CLIP-seq
MIRT1342980	hsa-miR-939	CLIP-seq
MIRT1342981	hsa-miR-944	CLIP-seq
MIRT1342982	hsa-miR-4658	CLIP-seq
MIRT1342983	hsa-miR-4758-5p	CLIP-seq
MIRT1342976	hsa-miR-599	CLIP-seq
MIRT1342984	hsa-miR-18a	CLIP-seq
MIRT1342985	hsa-miR-18b	CLIP-seq
MIRT1342986	hsa-miR-4477b	CLIP-seq
MIRT1342987	hsa-miR-4504	CLIP-seq
MIRT1342988	hsa-miR-4735-3p	CLIP-seq
MIRT1921717	hsa-miR-629	CLIP-seq
MIRT1921717	hsa-miR-629	CLIP-seq
MIRT2101365	hsa-miR-1208	CLIP-seq
MIRT2101366	hsa-miR-1245b-3p	CLIP-seq
MIRT2101367	hsa-miR-224	CLIP-seq
MIRT1342949	hsa-miR-3140-3p	CLIP-seq
MIRT2101368	hsa-miR-3672	CLIP-seq
MIRT2101369	hsa-miR-3942-3p	CLIP-seq
MIRT2101370	hsa-miR-4255	CLIP-seq
MIRT1342964	hsa-miR-4422	CLIP-seq
MIRT2101371	hsa-miR-4464	CLIP-seq
MIRT2101372	hsa-miR-4470	CLIP-seq
MIRT2101373	hsa-miR-4697-3p	CLIP-seq
MIRT2101374	hsa-miR-4748	CLIP-seq
MIRT2325761	hsa-miR-4282	CLIP-seq
MIRT2325762	hsa-miR-1236	CLIP-seq
MIRT2325763	hsa-miR-129-5p	CLIP-seq
MIRT2325764	hsa-miR-339-5p	CLIP-seq
MIRT2325765	hsa-miR-3650	CLIP-seq
MIRT1342958	hsa-miR-3914	CLIP-seq
MIRT2325766	hsa-miR-4474-3p	CLIP-seq
MIRT2325767	hsa-miR-450b-5p	CLIP-seq
MIRT2325768	hsa-miR-452	CLIP-seq
MIRT2325769	hsa-miR-4676-3p	CLIP-seq
MIRT2325770	hsa-miR-4687-3p	CLIP-seq
MIRT2325771	hsa-miR-4778-5p	CLIP-seq
MIRT2325772	hsa-miR-4792	CLIP-seq
MIRT2325773	hsa-miR-507	CLIP-seq
MIRT2325774	hsa-miR-557	CLIP-seq
MIRT2325775	hsa-miR-644	CLIP-seq
MIRT2621536	hsa-miR-140-5p	CLIP-seq
MIRT2621537	hsa-miR-3164	CLIP-seq
MIRT2621538	hsa-miR-3545-5p	CLIP-seq
MIRT2621539	hsa-miR-4424	CLIP-seq
MIRT2621540	hsa-miR-4433	CLIP-seq
MIRT2621541	hsa-miR-4459	CLIP-seq
MIRT2621542	hsa-miR-4460	CLIP-seq
MIRT2621543	hsa-miR-4653-3p	CLIP-seq
MIRT2621544	hsa-miR-4768-3p	CLIP-seq
MIRT1342939	hsa-miR-1323	CLIP-seq
MIRT1342961	hsa-miR-4272	CLIP-seq
MIRT1342973	hsa-miR-548o	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003015	Process	Heart process	IEA
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	8842738
GO:0007517	Process	Muscle organ development	TAS	8841194, 8842738
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	8841194
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060047	Process	Heart contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060977	Process	Coronary vasculature morphogenesis	IEA
GO:0086003	Process	Cardiac muscle cell contraction	IEA

Other IDs

• MIM: 601411
• HGNC: 10807
• e!Ensembl: ENSG00000170624

Protein

• UniProt ID: Q92629
• Protein name: Delta-sarcoglycan (Delta-SG) (35 kDa dystrophin-associated glycoprotein) (35DAG)
• 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	23 → 278	Sarcoglycan complex subunit protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
• Sequence:

  MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMN
  FTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKV
  LTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAERLRVLGAEGTVFPKSIETP
  NVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELRLESKDGEIKLDAAKI
  RLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL

• Sequence length: 289

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	rs2113389287, rs1412814368	RCV001814423 RCV001814430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic	rs758700138, rs121909295	RCV004999675 RCV004998079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2F	Likely pathogenic; Pathogenic	rs1768838504, rs2113389536, rs778760498, rs2113176852, rs758700138, rs727503422, rs2479930880, rs2481653253, rs1554094927, rs2480248711, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs886043031, rs1760870278, rs1561743757, rs2481653983, rs1383430588, rs2480201084, rs2480472838, rs1362615818, rs1554094947, rs1267810339, rs397517923, rs1554137130, rs1554137109, rs397517921, rs1760626889	RCV001970160 RCV001884710 RCV002007476 RCV002008218 RCV003619756 RCV000673416 RCV002309402 RCV002750750 RCV002750096 RCV002863298 RCV000008649 RCV000008650 RCV000008651 RCV000008652 RCV000008656 RCV003619667 RCV005100224 RCV003510831 RCV003509207 RCV003510145 RCV003620788 RCV003621070 RCV003870535 RCV000475393 RCV000666012 RCV000669132 RCV000674428 RCV000673150 RCV000707487 RCV002513585 RCV001217240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1L	Likely pathogenic; Pathogenic	rs1768838504, rs778760498, rs758700138, rs727503422, rs1369919728, rs121909295, rs121909297, rs2479930998, rs2480247821, rs2480210250, rs1760870278, rs1554137130, rs2481652194, rs1561743757, rs1267810339, rs397517923, rs1554137109, rs1554094927, rs1760626889	RCV005032008 RCV002497864 RCV003475307 RCV000673416 RCV004566696 RCV000664788 RCV004566697 RCV003472688 RCV003472689 RCV003472690 RCV003472691 RCV003472692 RCV003472693 RCV004574070 RCV000666012 RCV000669132 RCV000674428 RCV000673150 RCV003472252 RCV003473768	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuromuscular disease	Likely pathogenic; Pathogenic	rs727503422, rs397517921	RCV000151871 RCV000041405	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1L	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELTA-SARCOGLYCAN-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R6	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity	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 2F	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Qualitative or quantitative defects of delta-sarcoglycan	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SGCD-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	19412524, 30257524, 31689918		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	24334334		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	20132317	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11257475, 19234115, 19259135, 22304857, 23695275, 26720722, 9097966, 9391120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	19259135, 26720722, 36270459	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	20675662, 25281567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	20675662, 25281567		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	10974018, 19259135, 26720722, 31024045	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	17652892, 22524166	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10974018, 12469210, 16779861, 19259135, 19771157, 20384457, 23695275, 26720722, 26968544, 30143409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1L	Cardiomyopathy	GENOMICS_ENGLAND_DG	10735275, 19259135, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1L	Cardiomyopathy	CLINVAR_DG	10735275, 16524571, 19770540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1L	Cardiomyopathy	UNIPROT_DG	10974018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1L	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10974018, 11805334, 12794684, 16779861, 23695275, 26968544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26503814		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	9259292		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10623582, 16779861, 19771157, 22314291, 24645914, 28727929		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	17652892	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	17652892, 22524166		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30264220		★☆☆☆☆ Found in Text Mining only
Coronary Vasospasm	Coronary vasospasm	Pubtator	17652892, 22524166	Associate	★☆☆☆☆ Found in Text Mining only
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30938105	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	23300278		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	23300278		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30938105		★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	18996010		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	24334334		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	10974018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	10974018	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	11781950, 11899244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroschisis	Gastroschisis	Pubtator	32163230	Associate	★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24645914, 28727929		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10623582, 16779861, 19771157, 22314291, 24645914, 28727929		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10831946, 17652892, 20384457, 22524166		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17652892		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10831946, 17652892, 22524166		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26720722	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10735275		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	CLINVAR_DG	10735275, 10838250, 16524571, 17994539, 19770540, 8841194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	BEFREE	10838250, 17255329, 17265058, 9832045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG	19259135, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	CTD_human_DG	20675662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	UNIPROT_DG	9832045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	19412524	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	GWASDB_DG	21221998		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10202936, 10735275, 11180757, 12133845, 12794684, 18285821, 19259135, 24334334, 26968544, 28587652, 28697784, 28797108, 31430305, 8943294, 9032047, 9259292, 9577386, 9660967		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	18996010		★☆☆☆☆ 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	19050039, 19931597, 22314291, 28727929, 8641426, 9660967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	29901616, 38057384	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	9027861		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	20675662, 25281567		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30938105	Associate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	18535179, 30764848, 30989758, 9832045	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	30989758, 9832045		★☆☆☆☆ 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
Schizophrenia	Schizophrenia	GWASDB_DG	22037555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	25474115	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	25474115		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35789544	Associate	★☆☆☆☆ Found in Text Mining only
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	BEFREE	28412737		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only