SGCG (sarcoglycan gamma)

Gene

• Entrez ID: 6445
• Gene name: Sarcoglycan gamma
• Gene symbol: SGCG
• Synonyms (NCBI Gene): 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM, SCARMD2, gamma-SG
• Chromosome: 13
• Chromosome location: 13q12.12
• Summary: This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystrogly

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114160429	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140810408	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144497243	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs149595403	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199905729	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200206447	T>A,C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs200502077	G>C	Pathogenic, likely-pathogenic	Splice donor variant
rs560640452	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs762777463	->T	Pathogenic	Frameshift variant, coding sequence variant
rs774582375	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs781760379	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204786	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045106	AGTA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs886042540	TTACTGT>-	Pathogenic	Coding sequence variant, stop gained
rs886042757	A>G	Pathogenic	Splice acceptor variant
rs913248720	G>A	Likely-pathogenic	Splice acceptor variant
rs1262459682	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1432706111	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555234799	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555234810	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555240119	A>C	Likely-pathogenic	Splice acceptor variant
rs1555245353	G>C	Likely-pathogenic	Splice donor variant
rs1566011034	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1593197637	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593216248	T>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1342989	hsa-miR-1278	CLIP-seq
MIRT1342990	hsa-miR-2113	CLIP-seq
MIRT1342991	hsa-miR-3179	CLIP-seq
MIRT1342992	hsa-miR-33a	CLIP-seq
MIRT1342993	hsa-miR-33b	CLIP-seq
MIRT1342994	hsa-miR-342-3p	CLIP-seq
MIRT1342995	hsa-miR-3611	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342997	hsa-miR-4260	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT1342999	hsa-miR-4420	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT1343003	hsa-miR-4711-3p	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT1343007	hsa-miR-486-3p	CLIP-seq
MIRT1343008	hsa-miR-517b	CLIP-seq
MIRT1343009	hsa-miR-548g	CLIP-seq
MIRT1343010	hsa-miR-578	CLIP-seq
MIRT1343011	hsa-miR-581	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT1343013	hsa-miR-592	CLIP-seq
MIRT1343014	hsa-miR-599	CLIP-seq
MIRT2101375	hsa-miR-128	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2101377	hsa-miR-142-5p	CLIP-seq
MIRT2101378	hsa-miR-323-3p	CLIP-seq
MIRT2101379	hsa-miR-340	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2101382	hsa-miR-4703-3p	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT2101383	hsa-miR-4718	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2101384	hsa-miR-485-3p	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23414517, 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	8641426
GO:0007517	Process	Muscle organ development	TAS	8641426
GO:0010467	Process	Gene expression	IEA
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	TAS	8641426
GO:0016020	Component	Membrane	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0048738	Process	Cardiac muscle tissue development	IBA
GO:0060047	Process	Heart contraction	IBA

Other IDs

• MIM: 608896
• HGNC: 10809
• e!Ensembl: ENSG00000102683

Protein

• UniProt ID: Q13326
• Protein name: Gamma-sarcoglycan (Gamma-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	25 → 279	Sarcoglycan complex subunit protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal and heart muscle.
• Sequence:

  MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKV
  MWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEG
  EVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVE
  TPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
  TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL

• Sequence length: 291

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	Pathogenic	rs1881219252	RCV001814266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs762777463, rs104894423, rs786204786, rs547818652, rs200502077, rs886042757, rs781760379, rs200206447, rs1883152345	RCV004998070 RCV004766977 RCV004998364 RCV002265721 RCV001553764 RCV002265724 RCV004999243 RCV003230597 RCV004998583	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic; Pathogenic	rs886042757, rs79500874, rs1881865054, rs2137528297, rs2137528349, rs2137501447, rs768134426, rs2137501584, rs2137528312, rs1484553312, rs2137644772, rs1180551378, rs2137501542, rs1196026821, rs2137528211, rs2137534154, rs760108586, rs1361450354, rs2137644682, rs547818652, rs2137534216, rs104894422, rs762777463, rs104894423, rs2541900264, rs886042370, rs2541900238, rs786204786, rs2541899936, rs797045106, rs2541936716, rs875989949, rs1013988350, rs2541936647, rs886042540, rs200502077, rs886042749, rs886043860, rs781760379, rs200206447, rs2541900385, rs2500525030, rs2137501342, rs2500524682, rs2542103135, rs2542103387, rs2542092554, rs2541997209, rs1185360439, rs1883001175, rs1555240119, rs1474297447, rs2542029970, rs797044783, rs2541899899, rs2500525027, rs2528278649, rs1555245353, rs2541936326, rs2542103069, rs754415994, rs1555248000, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs758078849, rs1432706111, rs1566011034, rs1262459682, rs1593197637, rs1593216248, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs1883152345, rs1879928532, rs1883154291	RCV001379346 RCV001387160 RCV001390777 RCV001384531 RCV001386562 RCV001527390 RCV001785869 RCV001785870 RCV001783740 RCV001999932 RCV001946741 RCV001893133 RCV001944707 RCV001887587 RCV002007535 RCV001939644 RCV001959163 RCV001909623 RCV001892371 RCV002254411 RCV000002082 RCV000002083 RCV000002085 RCV000002086 RCV002308375 RCV002306935 RCV002307041 RCV000169675 RCV003062566 RCV000190623 RCV002834929 RCV002853211 RCV000211579 RCV003131442 RCV003134002 RCV000260683 RCV001855114 RCV000340955 RCV000817669 RCV002518901 RCV003765655 RCV001850454 RCV003485572 RCV003340701 RCV003338920 RCV003472694 RCV003472695 RCV003472696 RCV003472698 RCV003472699 RCV003472701 RCV003472702 RCV003472703 RCV003472704 RCV003472705 RCV003499647 RCV003497503 RCV003498693 RCV003603231 RCV003604346 RCV003604289 RCV003604325 RCV004573581 RCV004573582 RCV000673462 RCV000532127 RCV000673395 RCV000668598 RCV000667789 RCV000665539 RCV000671286 RCV000669493 RCV000669602 RCV000671426 RCV000670718 RCV000673041 RCV000669411 RCV000671119 RCV005056492 RCV000786075 RCV000806806 RCV000811151 RCV000855421 RCV001004965 RCV001061556 RCV001065557 RCV001066887 RCV001041822 RCV001037350 RCV001237760 RCV001240066	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SGCG-related congenital myopathy	Pathogenic	rs786204786	RCV004586589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGCG-related disorder	Likely pathogenic; Pathogenic	rs547818652	RCV004758680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOGLYCANOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathy	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	34440738	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29468564		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28917260, 30741580		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30061737	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	16183658, 23035061, 8891069		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31812551		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12793902, 14999780, 24706379		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37221368	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10662809	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10942431		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31612869	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Congenital Cataracts, Facial Dysmorphism, And Neuropathy	BEFREE	24180318		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	17568789		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23300278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	23300278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	23300278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	37221368	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33679616	Associate	★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	18996010		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	10807695, 28219397		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	30171536		★☆☆☆☆ Found in Text Mining only
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	24180318		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24358143	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	37900130	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10662809	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	24180318		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	1299344	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31184526		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29986096	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33679616	Associate	★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12793902, 14999780, 24706379		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18289390, 29788737, 30668969		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29690916		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31245235		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36419337	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	39336735	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28115010		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10385046, 11353430, 16084087, 16183658, 19056483, 24552312, 25605665, 30764848, 31682967, 8825917, 8943294, 9027857, 9673983, 9781048, 9885023		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	15087111, 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	10933922, 10942431, 10993904, 12609501, 20101091, 7481775, 8641426, 8923014, 9631401, 9781048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	BEFREE	30171536		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	8891069, 9027861		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26457733		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18289390, 20230342, 24706379, 30668969		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26899735, 28917260		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	16183658		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	17568789		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26883482		★☆☆☆☆ Found in Text Mining only
Right ventricular dilatation	Right ventricular dilatation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	10385046, 11665864, 19056483, 23035061, 28889091, 30764848, 9192266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	18535179, 19770540, 24638197, 30764848, 33386810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	9429136	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	28577920, 28744563, 29536265, 30519836, 31077730, 31488866, 31704232, 31812551		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10069710, 10714584, 10797406, 12609501, 15479193, 19208398, 22240777, 22367371, 24552312, 27935071, 7481775, 8900232, 9781048, 9885023		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	UNIPROT_DG	10714584, 30345904, 8968757		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	CLINVAR_DG	10942431, 11801399, 12040521, 12566530, 14981741, 16832103, 17897828, 18285821, 19770540, 20345928, 20623375, 22095924, 22240777, 23929688, 24534832, 24552312, 24638197, 25605665, 25802879, 27708273, 7481775, 8923014, 8968757, 9266733, 9658457, 9673983, 9781048		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	10053011, 19208398		★☆☆☆☆ Found in Text Mining only