ACAN (aggrecan)

Gene

• Entrez ID: 176
• Gene name: Aggrecan
• Gene symbol: ACAN
• Synonyms (NCBI Gene): AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913568	G>A	Pathogenic	Missense variant, coding sequence variant
rs150555123	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267604368	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs267606625	G>A	Pathogenic	Coding sequence variant, missense variant
rs368979713	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371065660	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906534	->C	Pathogenic	Coding sequence variant, frameshift variant
rs576947078	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs577419060	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs758892087	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs773948197	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1555453695	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555453708	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555454630	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555455057	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555455127	G>A	Pathogenic	Splice donor variant
rs1555455284	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555455969	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555456128	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555456230	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555457492	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555457513	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555457525	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555457632	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555457638	ACGAGAAGGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567185220	G>T	Pathogenic	Coding sequence variant, missense variant
rs1567186585	T>A	Pathogenic	Coding sequence variant, missense variant
rs1596128699	A>T	Likely-pathogenic	Splice acceptor variant
rs1596136784	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596144242	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053690	hsa-miR-181a-5p	Microarray	22942087
MIRT1921421	hsa-miR-4667-3p	CLIP-seq
MIRT1921421	hsa-miR-4667-3p	CLIP-seq
MIRT1921421	hsa-miR-4667-3p	CLIP-seq
MIRT2165851	hsa-miR-4254	CLIP-seq
MIRT2165852	hsa-miR-4469	CLIP-seq
MIRT1921421	hsa-miR-4667-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SHOX	Unknown	24421874
SHOX2	Unknown	24421874
SIRT1	Activation	21337390
SP1	Unknown	12081893

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001501	Process	Skeletal system development	NAS	1569188
GO:0005201	Function	Extracellular matrix structural constituent	TAS	1569188
GO:0005515	Function	Protein binding	IPI	17588949, 32814053
GO:0005540	Function	Hyaluronic acid binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0006508	Process	Proteolysis	NAS	1569188
GO:0007155	Process	Cell adhesion	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 27068509
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	27068509
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045202	Component	Synapse	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0072534	Component	Perineuronal net	IBA

Other IDs

• MIM: 155760
• HGNC: 319
• e!Ensembl: ENSG00000157766

Protein

• UniProt ID: P16112
• Protein name: Aggrecan core protein (Cartilage-specific proteoglycan core protein) (CSPCP) (Chondroitin sulfate proteoglycan core protein 1) (Chondroitin sulfate proteoglycan 1) [Cleaved into: Aggrecan core protein 2]
• Protein function: This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.
• PDB: 4MD4, 7RDV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	34 → 151	Immunoglobulin V-set domain	Domain
  PF00193	Xlink	153 → 247	Extracellular link domain	Domain
  PF00193	Xlink	254 → 349	Extracellular link domain	Domain
  PF00193	Xlink	478 → 572	Extracellular link domain	Domain
  PF00193	Xlink	579 → 674	Extracellular link domain	Domain
  PF00059	Lectin_C	2337 → 2442	Lectin C-type domain	Domain
  PF00084	Sushi	2447 → 2503	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in fibroblasts (at protein level) (PubMed:36213313). Restricted to cartilage (PubMed:7524681). {ECO:0000269|PubMed:36213313, ECO:0000269|PubMed:7524681}.
• Sequence:

  MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLGTSLTIPCYFIDPMHPV
  TTAPSTAPLAPRIKWSRVSKEKEVVLLVATEGRVRVNSAYQDKVSLPNYPAIPSDATLEV
  QSLRSNDSGVYRCEVMHGIEDSEATLEVVVKGIVFHYRAISTRYTLDFDRAQRACLQNSA
  IIATPEQLQAAYEDGFHQCDAGWLADQTVRYPIHTPREGCYGDKDEFPGVRTYGIRDTNE
  TYDVYCFAEEMEGEVFYATSPEKFTFQEAANECRRLGARLATTGQLYLAWQAGMDMCSAG
  WLADRSVRYPISKARPNCGGNLLGVRTVYVHANQTGYPDPSSRYDAICYTGEDFVDIPEN
  FFGVGGEEDITVQTVTWPDMELPLPRNITEGEARGSVILTVKPIFEVSPSPLEPEEPFTF
  APEIGATAFAEVENETGEATRPWGFPTPGLGPATAFTSEDLVVQVTAVPGQPHLPGGVVF
  HYRPGPTRYSLTFEEAQQACLRTGAVIASPEQLQAAYEAGYEQCDAGWLRDQTVRYPIVS
  PRTPCVGDKDSSPGVRTYGVRPSTETYDVYCFVDRLEGEVFFATRLEQFTFQEALEFCES
  HNATLATTGQLYAAWSRGLDKCYAGWLADGSLRYPIVTPRPACGGDKPGVRTVYLYPNQT
  GLPDPLSRHHAFCFRGISAVPSPGEEEGGTPTSPSGVEEWIVTQVVPGVAAVPVEEETTA
  VPSGETTAILEFTTEPENQTEWEPAYTPVGTSPLPGILPTWPPTGAATEESTEGPSATEV
  PSASEEPSPSEVPFPSEEPSPSEEPFPSVRPFPSVELFPSEEPFPSKEPSPSEEPSASEE
  PYTPSPPVPSWTELPSSGEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLD
  SSGLTSTVGSGLPVESGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGVGDLSGLPSG
  EVLETSASGVGDLSGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVL
  ETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETT
  APGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPG
  VEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVED
  ISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISG
  LPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPS
  GEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEV
  LETAAPGVEDISGLPSGEVLETTAPGVEEISGLPSGEVLETTAPGVDEISGLPSGEVLET
  TAPGVEEISGLPSGEVLETSTSAVGDLSGLPSGGEVLEISVSGVEDISGLPSGEVVETSA
  SGIEDVSELPSGEGLETSASGVEDLSRLPSGEEVLEISASGFGDLSGLPSGGEGLETSAS
  EVGTDLSGLPSGREGLETSASGAEDLSGLPSGKEDLVGSASGDLDLGKLPSGTLGSGQAP
  ETSGLPSGFSGEYSGVDLGSGPPSGLPDFSGLPSGFPTVSLVDSTLVEVVTASTASELEG
  RGTIGISGAGEISGLPSSELDISGRASGLPSGTELSGQASGSPDVSGEIPGLFGVSGQPS
  GFPDTSGETSGVTELSGLSSGQPGISGEASGVLYGTSQPFGITDLSGETSGVPDLSGQPS
  GLPGFSGATSGVPDLVSGTTSGSGESSGITFVDTSLVEVAPTTFKEEEGLGSVELSGLPS
  GEADLSGKSGMVDVSGQFSGTVDSSGFTSQTPEFSGLPSGIAEVSGESSRAEIGSSLPSG
  AYYGSGTPSSFPTVSLVDRTLVESVTQAPTAQEAGEGPSGILELSGAHSGAPDMSGEHSG
  FLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVSGESSVAMGTSGEASGLPEVTLITSE
  FVEGVTEPTISQELGQRPPVTHTPQLFESSGKVSTAGDISGATPVLPGSGVEVSSVPESS
  SETSAYPEAGFGASAAPEASREDSGSPDLSETTSAFHEANLERSSGLGVSGSTLTFQEGE
  ASAAPEVSGESTTTSDVGTEAPGLPSATPTASGDRTEISGDLSGHTSQLGVVISTSIPES
  EWTQQTQRPAETHLEIESSSLLYSGEETHTVETATSPTDASIPASPEWKRESESTAAAPA
  RSCAEEPCGAGTCKETEGHVICLCPPGYTGEHCNIDQEVCEEGWNKYQGHCYRHFPDRET
  WVDAERRCREQQSHLSSIVTPEEQEFVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFEN
  WRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTFG
  QKKDRYEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPQITCTDPTTYKRRLQKRSSRH
  PRRSRPSTAH

• Sequence length: 2530

Pathways

Reactome:

Degradation of the extracellular matrix
Keratan sulfate biosynthesis
Keratan sulfate degradation
ECM proteoglycans
Defective CHST6 causes MCDC1
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

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
ACAN-related disorder	Likely pathogenic; Pathogenic	rs1489993778, rs2505242245, rs2505383706, rs2505251299, rs1555457525	RCV004548352 RCV005406655 RCV004548980 RCV004548817 RCV006268825	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteochondritis dissecans	Likely pathogenic; Pathogenic	rs2141567062, rs375322679, rs2141585993, rs2141611557, rs2141587294, rs1596128699, rs1596144242, rs1896573269, rs2141608062, rs1897080948, rs1896771746, rs1896882552, rs1896883106	RCV001526470 RCV002466685 RCV001563613 RCV001775500 RCV001806409 RCV000786867 RCV000989372 RCV001253367 RCV001376127 RCV001292595 RCV001293733 RCV001293676 RCV001293673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Likely pathogenic	rs2141613985	RCV002222274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature and advanced bone age	Pathogenic	rs1555453708, rs1555455127, rs1555456230, rs1555455057	RCV001814986 RCV001814987 RCV001814989 RCV001814995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature and advanced bone age, with early-onset osteoarthritis	Pathogenic	rs1555456128, rs1555453695, rs1555454630, rs1555457632	RCV001814990 RCV001814991 RCV001814992 RCV001814993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	Likely pathogenic; Pathogenic	rs1896876172, rs2141581633, rs375322679, rs1356219990, rs2141587301, rs2141587294, rs2141563800, rs2141581781, rs2141582868, rs2141576691, rs2141563841, rs2141587447, rs2141606910, rs2505311777, rs2505328579, rs1251042249, rs2505286203, rs765556817, rs2505242245, rs1897141948, rs2505331499, rs2505221117, rs2505327864, rs1430909928, rs2505335625, rs2505241670, rs121913568, rs267606625, rs2505223192, rs986742379, rs1555457513, rs1555457525	RCV005912625 RCV005005911 RCV005005258 RCV002243464 RCV004812414 RCV002227561 RCV001838834 RCV005235615 RCV004812428 RCV005253942 RCV002052241 RCV002244088 RCV002249224 RCV002283703 RCV002289252 RCV002510235 RCV002795919 RCV006249845 RCV003448493 RCV003458917 RCV003458918 RCV003314414 RCV003314481 RCV003314507 RCV003397225 RCV003458925 RCV005871228 RCV002247342 RCV001814958 RCV004812515 RCV004555157 RCV001814988 RCV001814994	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature-advanced bone age-early-onset osteoarthritis syndrome	Pathogenic	rs2505335104	RCV003445418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, aggrecan type	Pathogenic; Likely pathogenic	rs2141581633, rs375322679, rs1356219990, rs121913568, rs1567185220, rs1567186585	RCV005005911 RCV005005258 RCV005006056 RCV000015375 RCV000757905 RCV000757906	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia, Kimberley type	Likely pathogenic; Pathogenic	rs1896876172, rs2141581633, rs375322679, rs1356219990, rs387906534, rs986742379	RCV005912625 RCV005005911 RCV005005258 RCV005006056 RCV000015374 RCV004555157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACAN-RELATED SHORT STATURE SPECTRUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth failure in early childhood	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	1670752		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36982604	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23973860		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22971484, 29100004, 29540167		★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	12844226		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	29867203	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33990642	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Stenosis Supravalvular	Aortic stenosis	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	28986054		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20652528, 30638179		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12892070, 15188376, 15899037, 29920219, 9541498		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	31747937	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	17129378, 24782191, 26924871	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10531073, 15161923, 16761970, 22594821	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39990652	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	11854277		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23148572	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20652528, 30638179		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37646165	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18607376, 21691713		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15056512, 21691713		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22269151		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28986054		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29769040		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29769040	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Inhibit	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	29464738		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type E	Brachydactyly	Pubtator	40589517	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34162438	Associate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	23131589		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29086015		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	25173489		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	15161923, 15708898, 18196609, 18671975, 22241609, 23671648, 25263345, 25761416, 26973327, 28237856, 29374435, 30033738	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27428952	Inhibit	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	10629544		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia blomstrand type	Chondrodysplasia	Pubtator	24762113	Associate	★☆☆☆☆ Found in Text Mining only
Chondromalacia	Chondromalacia	BEFREE	23965695		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12553050, 21671478, 30199705, 8226878, 9639575		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	18641983	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	32327700	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	11337353		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	11337353, 18641983	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34187405	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	28185391		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12082272, 15629465, 16583443, 16972994, 18289053, 18632849, 18941754, 19103633, 19213744, 19484766, 19494318, 19657146, 19684582, 20199393, 20652528, 20973059, 21337390, 21566131, 21655647, 21728837, 21854562, 21972422, 22102413, 22362494, 22670872, 22971484, 23064555, 23231452, 23237804, 23438438, 23671648, 23897278, 23926636, 23965695, 24474687, 24911520, 25230745, 25371314, 25424126, 26162802, 26247939, 26303525, 26718307, 26818776, 27086115, 27428952, 27555113, 27739057, 28185391, 28216310, 28464560, 28642243, 28679445, 28743292, 28764769, 28846474, 28926925, 29068480, 29102725, 29145712, 29157984, 29168867, 29176667, 29196708, 29236314, 29245931, 29393494, 29393693, 29444976, 29457374, 29488610, 29559252, 29608232, 29686224, 29879379, 29885460, 29922449, 30096598, 30117186, 30311500, 30324848, 30326428, 30597965, 30604633, 30652828, 30654307, 30729704, 30813547, 30942091, 30981839, 31075239, 31105822, 31228817, 31270213, 31287025, 31310910, 31364869, 31372032, 31440033, 31464310, 31587011, 31700695, 31735077, 8569187, 9756610		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16080123		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27955658, 34605228	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	28185391	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34233433	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20367118, 21809381, 23209686, 23438440, 25299465, 26162271, 28427186, 28570296, 28646230, 29436660, 29554650, 30130742, 30973512		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	14724681, 29922449		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12975605, 19893584, 24762113, 25741789, 27870580, 27942904, 28331218, 28396070, 28921880, 28939912, 29302920, 29464738, 29769040, 30058072, 30813547, 31841439		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12205105, 12626230, 16080123, 17317784, 18226555, 19110214, 1978986, 20137779, 21948754, 24762113, 27870580		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25231141	Stimulate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31747937	Associate	★☆☆☆☆ Found in Text Mining only
Familial Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	20137779		★☆☆☆☆ Found in Text Mining only
Familial Osteochondritis Dissecans	Osteochondritis Dissecans	UNIPROT_DG	20137779		★☆☆☆☆ Found in Text Mining only
Familial Osteochondritis Dissecans	Osteochondritis Dissecans	ORPHANET_DG	20137779, 24762113		★☆☆☆☆ Found in Text Mining only
Familial osteochondritis dissecans	Osteochondritis Dissecans	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Osteochondritis Dissecans	Osteochondritis Dissecans	GENOMICS_ENGLAND_DG	24762113, 27870580		★☆☆☆☆ Found in Text Mining only
Familial Osteochondritis Dissecans	Osteochondritis Dissecans	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	26325413	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24762113, 25741789, 27870580, 28768959, 29769040, 30541462, 31747937, 31841439, 32846772, 33606014, 34210114, 34605228, 34894100, 35250876, 35261200, 35338222, 36597844, 37605180	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34605228	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	36597844	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	28445472		★☆☆☆☆ Found in Text Mining only
Hypomyelination, Global Cerebral	Cerebral hypomyelination	BEFREE	28235644, 31514314		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17537234, 21351055, 23965235, 28623370, 37108698	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	27281584		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	30471105		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	11950957, 12014433, 14644861, 16741450, 17632389, 19180493, 20367118, 20367178, 20496110, 20505571, 20936487, 21689646, 21809381, 21948754, 23209686, 23537453, 27991836, 28526405, 29207013, 29442158, 29736202, 29922449, 29992840, 30288688, 31251999, 31747924		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	11950957, 14644861, 19180493, 21948754, 25299465, 29554650, 30130742, 30804119, 33215411, 37354087, 39286594	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	21809381	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	27870580, 28002585, 28081267, 28207788, 28742099, 30804119	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	20367118, 21809381, 23209686, 23438440, 25299465, 26162271, 28207788, 28427186, 28570296, 28646230, 29436660, 29554650, 30130742, 30973512		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	21948754, 28742099, 32846772	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	31694747		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	21972422, 22971484, 31845005		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36408280	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	18383852	Inhibit	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	30567472	Associate	★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	28081267, 28746197		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	31640774		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	31640774		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	32327700	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27955658, 30321589		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	28081267, 28746197		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25715761		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	40243895	Stimulate	★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	BEFREE	9756610		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	27213335	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	17548214	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	29577904		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12205105, 12626230, 16080123, 17317784, 18226555, 19110214, 1978986, 20137779, 21948754, 24762113, 27870580		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	12205105		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26545722	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	CTD_human_DG	12868502		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21743019, 24766640	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30122555		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25188217, 25299465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29793458		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21052871	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	14697681, 14962956, 15161923, 16080123, 16583443, 16713721, 18985702, 20973059, 21655647, 22971484, 23671648, 23702485, 23965695, 24225084, 25761416, 26162411, 26778533, 26818776, 26973327, 27129266, 27555113, 27870580, 28256567, 29328479, 30597965, 30604633, 30942091, 31364869, 31440033, 32517548, 32846772, 34078001, 35338222, 37308935, 37652257, 38554527, 39275306, 9876393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	21565399, 27428952, 34440671, 39342381, 39990652	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	23965235, 28805694, 40243895	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	16972994		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	9876393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	26122666, 29464738, 29793458		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteochondritis Dissecans	Osteochondritis Dissecans	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	15183431, 16080123	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	16080123		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	19110214, 29577904		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32846772, 34210114	Associate	★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	31841439	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	30609267		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35139411	Inhibit	★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	14558097, 16232217, 9541498, 9627011		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28417352, 29086015		★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	BEFREE	16080123		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	16650460		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	LHGDN	16650460		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	30609267		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	1670752, 1725805		★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14760803, 15188376, 19004047, 19213744, 20516019, 22594821, 23137648, 23543349, 29326703, 30390384, 9627011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	15292528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	19004047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	14558097		★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	24398992	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	8258716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	16741449		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	LHGDN	16741449		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21743019, 24766640		★☆☆☆☆ Found in Text Mining only
Short stature-advanced bone age-early-onset osteoarthritis syndrome	Short Stature-Advanced Bone Age Osteoarthritis Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	19110214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	BEFREE	27390878		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	27353333		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Spondyloepiphyseal dysplasia	ORPHANET_DG	19110214		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Spondyloepiphyseal dysplasia	UNIPROT_DG	19110214		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia, aggrecan type	Spondyloepiphyseal dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Spondyloepiphyseal dysplasia	GENOMICS_ENGLAND_DG	27870580		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Spondyloepiphyseal dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Spondyloepiphyseal dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	12205105, 16080123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal Dysplasia Kimberley Type	Spondyloepiphyseal dysplasia	Pubtator	16080123	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	12205105, 16080123		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia, Kimberley Type	Spondyloepiphyseal dysplasia	ORPHANET_DG	16080123		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal Dysplasia, Kimberley Type	Spondyloepiphyseal dysplasia	GENOMICS_ENGLAND_DG	24762113, 27870580		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal Dysplasia, Kimberley Type	Spondyloepiphyseal dysplasia	BEFREE	28396070		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal Dysplasia, Kimberley Type	Spondyloepiphyseal dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 35225482	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	16219640		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	22269151		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	27068509	Inhibit	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only