SSPN (sarcospan)

Gene

• Entrez ID: 8082
• Gene name: Sarcospan
• Gene symbol: SSPN
• Synonyms (NCBI Gene): DAGA5, KRAG, NSPN, SPN1, SPN2
• Chromosome: 12
• Chromosome location: 12p12.1
• Summary: This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018051	hsa-miR-335-5p	Microarray	18185580
MIRT540824	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT540823	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT540822	hsa-miR-567	HITS-CLIP	21572407
MIRT540821	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT540818	hsa-miR-297	HITS-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT540817	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT570256	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT570255	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT491415	hsa-miR-4779	PAR-CLIP	20371350
MIRT491416	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT570254	hsa-miR-6134	PAR-CLIP	20371350
MIRT491413	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT491412	hsa-miR-6077	PAR-CLIP	20371350
MIRT491411	hsa-miR-765	PAR-CLIP	20371350
MIRT570253	hsa-miR-3689d	PAR-CLIP	20371350
MIRT570252	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT570251	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT540823	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT540822	hsa-miR-567	PAR-CLIP	20371350
MIRT540821	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT540818	hsa-miR-297	PAR-CLIP	20371350
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT540817	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT552217	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552216	hsa-miR-1976	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT552215	hsa-miR-378a-5p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT491415	hsa-miR-4779	PAR-CLIP	23592263
MIRT491416	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491414	hsa-miR-4719	PAR-CLIP	23592263
MIRT491413	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT491412	hsa-miR-6077	PAR-CLIP	23592263
MIRT491411	hsa-miR-765	PAR-CLIP	23592263
MIRT540824	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT540823	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT540822	hsa-miR-567	HITS-CLIP	21572407
MIRT540821	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT540818	hsa-miR-297	HITS-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT540817	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT570256	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT570255	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT491415	hsa-miR-4779	PAR-CLIP	20371350
MIRT491416	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT570254	hsa-miR-6134	PAR-CLIP	20371350
MIRT491413	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT491412	hsa-miR-6077	PAR-CLIP	20371350
MIRT491411	hsa-miR-765	PAR-CLIP	20371350
MIRT570253	hsa-miR-3689d	PAR-CLIP	20371350
MIRT570252	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT570251	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT540823	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT540822	hsa-miR-567	PAR-CLIP	20371350
MIRT540821	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT540818	hsa-miR-297	PAR-CLIP	20371350
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT540817	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT552217	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552216	hsa-miR-1976	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT552215	hsa-miR-378a-5p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT491415	hsa-miR-4779	PAR-CLIP	23592263
MIRT491416	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491414	hsa-miR-4719	PAR-CLIP	23592263
MIRT491413	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT491412	hsa-miR-6077	PAR-CLIP	23592263
MIRT491411	hsa-miR-765	PAR-CLIP	23592263
MIRT1392233	hsa-miR-1193	CLIP-seq
MIRT1392234	hsa-miR-1321	CLIP-seq
MIRT1392235	hsa-miR-1323	CLIP-seq
MIRT1392236	hsa-miR-154	CLIP-seq
MIRT1392237	hsa-miR-186	CLIP-seq
MIRT1392238	hsa-miR-2053	CLIP-seq
MIRT1392239	hsa-miR-3133	CLIP-seq
MIRT1392240	hsa-miR-4307	CLIP-seq
MIRT1392241	hsa-miR-4419a	CLIP-seq
MIRT1392242	hsa-miR-4422	CLIP-seq
MIRT1392243	hsa-miR-4493	CLIP-seq
MIRT1392244	hsa-miR-4510	CLIP-seq
MIRT1392245	hsa-miR-4534	CLIP-seq
MIRT1392246	hsa-miR-4711-3p	CLIP-seq
MIRT1392247	hsa-miR-4739	CLIP-seq
MIRT1392248	hsa-miR-4753-5p	CLIP-seq
MIRT1392249	hsa-miR-4756-5p	CLIP-seq
MIRT1392250	hsa-miR-511	CLIP-seq
MIRT1392251	hsa-miR-515-5p	CLIP-seq
MIRT1392252	hsa-miR-548o	CLIP-seq
MIRT1392253	hsa-miR-636	CLIP-seq
MIRT1392237	hsa-miR-186	CLIP-seq
MIRT1392254	hsa-miR-3119	CLIP-seq
MIRT1392255	hsa-miR-3942-3p	CLIP-seq
MIRT1392256	hsa-miR-4496	CLIP-seq
MIRT1392257	hsa-miR-599	CLIP-seq
MIRT2117544	hsa-miR-3143	CLIP-seq
MIRT2117545	hsa-miR-3180-5p	CLIP-seq
MIRT2117546	hsa-miR-3185	CLIP-seq
MIRT2117547	hsa-miR-320a	CLIP-seq
MIRT2117548	hsa-miR-320b	CLIP-seq
MIRT2117549	hsa-miR-320c	CLIP-seq
MIRT2117550	hsa-miR-320d	CLIP-seq
MIRT2117551	hsa-miR-4421	CLIP-seq
MIRT2117552	hsa-miR-4429	CLIP-seq
MIRT2117553	hsa-miR-4639-5p	CLIP-seq
MIRT2117554	hsa-miR-4797-5p	CLIP-seq
MIRT2117555	hsa-miR-509-3p	CLIP-seq
MIRT1392251	hsa-miR-515-5p	CLIP-seq
MIRT2117556	hsa-miR-520a-5p	CLIP-seq
MIRT2117557	hsa-miR-525-5p	CLIP-seq
MIRT2117558	hsa-miR-543	CLIP-seq
MIRT2117559	hsa-miR-556-3p	CLIP-seq
MIRT2117560	hsa-miR-595	CLIP-seq
MIRT2633561	hsa-miR-4263	CLIP-seq
MIRT2633562	hsa-miR-4436b-5p	CLIP-seq
MIRT2633563	hsa-miR-4659a-3p	CLIP-seq
MIRT2633564	hsa-miR-4659b-3p	CLIP-seq
MIRT2633565	hsa-miR-944	CLIP-seq
MIRT1392240	hsa-miR-4307	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BTF3	Repression	17312387

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9395445
GO:0006936	Process	Muscle contraction	TAS	9395445
GO:0007155	Process	Cell adhesion	TAS	9395445
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	9395445
GO:0016020	Component	Membrane	IEA
GO:0030133	Component	Transport vesicle	IDA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA

Other IDs

• MIM: 601599
• HGNC: 11322
• e!Ensembl: ENSG00000123096

Protein

• UniProt ID: Q14714
• Protein name: Sarcospan (K-ras oncogene-associated protein) (Kirsten-ras-associated protein)
• Protein function: Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04103	CD20	55 → 210	CD20-like family	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen.
• Sequence:

  MGKNKQPRGQQRQGGPPAADAAGPDDMEPKKGTGAPKECGEEEPRTCCGCRFPLLLALLQ
  LALGIAVTVVGFLMASISSSLLVRDTPFWAGIIVCLVAYLGLFMLCVSYQVDERTCIQFS
  MKLLYFLLSALGLTVCVLAVAFAAHHYSQLTQFTCETTLDSCQCKLPSSEPLSRTFVYRD
  VTDCTSVTGTFKLFLLIQMILNLVCGLVCLLACFVMWKHRYQVFYVGVRICSLTASEGPQ
  QKI

• Sequence length: 243

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC CREUTZFELD JACOB DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	30061737	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	36344993	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10942431, 31039133		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11956653		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28406175, 30061737		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	BEFREE	11180757		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	18830929		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10942431, 11180757, 28587652		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10441321, 10942431, 10993904, 18252746, 18830929, 18981229, 25504048		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	18830929		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18830929, 25504048, 27798107, 28587652, 31039133, 31831063		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30081305, 8661122		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26449484	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10942431		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28406175		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	22734004		★☆☆☆☆ Found in Text Mining only