Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	633
Gene name	Biglycan
Gene symbol	BGN
Synonyms (NCBI Gene)	DSPG1MRLSPG-S1PGISEMDXSLRR1A
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs879255604	A>G	Pathogenic	Missense variant, coding sequence variant
rs879255605	G>T	Pathogenic	Missense variant, coding sequence variant
rs886037823	G>A	Pathogenic	Stop gained, coding sequence variant
rs886037824	A>C	Pathogenic	Missense variant, coding sequence variant
rs886037825	G>A	Pathogenic	Missense variant, coding sequence variant
rs1602981402	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602981441	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant

244

Show/Hide all (244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT635492	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	24906430
MIRT517400	hsa-miR-6758-5p	PAR-CLIP	22012620
MIRT517399	hsa-miR-6856-5p	PAR-CLIP	22012620
MIRT517398	hsa-miR-3125	PAR-CLIP	22012620
MIRT517396	hsa-miR-3916	PAR-CLIP	22012620
MIRT517397	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT517395	hsa-miR-4476	PAR-CLIP	22012620
MIRT517394	hsa-miR-6876-5p	PAR-CLIP	22012620
MIRT517393	hsa-miR-4533	PAR-CLIP	22012620
MIRT517400	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT517399	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT517398	hsa-miR-3125	PAR-CLIP	23446348
MIRT517396	hsa-miR-3916	PAR-CLIP	23446348
MIRT517397	hsa-miR-6859-5p	PAR-CLIP	23446348
MIRT517395	hsa-miR-4476	PAR-CLIP	23446348
MIRT517394	hsa-miR-6876-5p	PAR-CLIP	23446348
MIRT517393	hsa-miR-4533	PAR-CLIP	23446348
MIRT517398	hsa-miR-3125	PAR-CLIP	27292025
MIRT517396	hsa-miR-3916	PAR-CLIP	27292025
MIRT517395	hsa-miR-4476	PAR-CLIP	27292025
MIRT517393	hsa-miR-4533	PAR-CLIP	27292025
MIRT517400	hsa-miR-6758-5p	PAR-CLIP	27292025
MIRT517399	hsa-miR-6856-5p	PAR-CLIP	27292025
MIRT517397	hsa-miR-6859-5p	PAR-CLIP	27292025
MIRT517394	hsa-miR-6876-5p	PAR-CLIP	27292025
MIRT517398	hsa-miR-3125	HITS-CLIP	27418678
MIRT517398	hsa-miR-3125	HITS-CLIP	27418678
MIRT517398	hsa-miR-3125	HITS-CLIP	27418678
MIRT517398	hsa-miR-3125	HITS-CLIP	27418678
MIRT517396	hsa-miR-3916	HITS-CLIP	27418678
MIRT517396	hsa-miR-3916	HITS-CLIP	27418678
MIRT517396	hsa-miR-3916	HITS-CLIP	27418678
MIRT517396	hsa-miR-3916	HITS-CLIP	27418678
MIRT614284	hsa-miR-4311	HITS-CLIP	27418678
MIRT517395	hsa-miR-4476	HITS-CLIP	27418678
MIRT517395	hsa-miR-4476	HITS-CLIP	27418678
MIRT517395	hsa-miR-4476	HITS-CLIP	27418678
MIRT517395	hsa-miR-4476	HITS-CLIP	27418678
MIRT517393	hsa-miR-4533	HITS-CLIP	27418678
MIRT517393	hsa-miR-4533	HITS-CLIP	27418678
MIRT517393	hsa-miR-4533	HITS-CLIP	27418678
MIRT517393	hsa-miR-4533	HITS-CLIP	27418678
MIRT517400	hsa-miR-6758-5p	HITS-CLIP	27418678
MIRT517400	hsa-miR-6758-5p	HITS-CLIP	27418678
MIRT517400	hsa-miR-6758-5p	HITS-CLIP	27418678
MIRT517400	hsa-miR-6758-5p	HITS-CLIP	27418678
MIRT517399	hsa-miR-6856-5p	HITS-CLIP	27418678
MIRT517399	hsa-miR-6856-5p	HITS-CLIP	27418678
MIRT517399	hsa-miR-6856-5p	HITS-CLIP	27418678
MIRT517399	hsa-miR-6856-5p	HITS-CLIP	27418678
MIRT517397	hsa-miR-6859-5p	HITS-CLIP	27418678
MIRT517397	hsa-miR-6859-5p	HITS-CLIP	27418678
MIRT517397	hsa-miR-6859-5p	HITS-CLIP	27418678
MIRT517397	hsa-miR-6859-5p	HITS-CLIP	27418678
MIRT517394	hsa-miR-6876-5p	HITS-CLIP	27418678
MIRT517394	hsa-miR-6876-5p	HITS-CLIP	27418678
MIRT517394	hsa-miR-6876-5p	HITS-CLIP	27418678
MIRT517394	hsa-miR-6876-5p	HITS-CLIP	27418678
MIRT607442	hsa-miR-8485	HITS-CLIP	27418678
MIRT736304	hsa-miR-206	Luciferase reporter assayRNA-seqqRT-PCR	32129700
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT635492	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT614284	hsa-miR-4311	HITS-CLIP	23824327
MIRT607442	hsa-miR-8485	HITS-CLIP	23824327
MIRT517400	hsa-miR-6758-5p	PAR-CLIP	22012620
MIRT517399	hsa-miR-6856-5p	PAR-CLIP	22012620
MIRT517398	hsa-miR-3125	PAR-CLIP	22012620
MIRT517396	hsa-miR-3916	PAR-CLIP	22012620
MIRT517397	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT517395	hsa-miR-4476	PAR-CLIP	22012620
MIRT517394	hsa-miR-6876-5p	PAR-CLIP	22012620
MIRT517393	hsa-miR-4533	PAR-CLIP	22012620
MIRT517400	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT517399	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT517398	hsa-miR-3125	PAR-CLIP	23446348
MIRT517396	hsa-miR-3916	PAR-CLIP	23446348
MIRT517397	hsa-miR-6859-5p	PAR-CLIP	23446348
MIRT517395	hsa-miR-4476	PAR-CLIP	23446348
MIRT517394	hsa-miR-6876-5p	PAR-CLIP	23446348
MIRT517393	hsa-miR-4533	PAR-CLIP	23446348
MIRT821167	hsa-miR-1273f	CLIP-seq
MIRT821168	hsa-miR-1293	CLIP-seq
MIRT821169	hsa-miR-150	CLIP-seq
MIRT821170	hsa-miR-1972	CLIP-seq
MIRT821171	hsa-miR-2278	CLIP-seq
MIRT821172	hsa-miR-326	CLIP-seq
MIRT821173	hsa-miR-330-5p	CLIP-seq
MIRT821174	hsa-miR-4483	CLIP-seq
MIRT821175	hsa-miR-4534	CLIP-seq
MIRT821176	hsa-miR-4687-3p	CLIP-seq
MIRT821177	hsa-miR-4717-5p	CLIP-seq
MIRT821178	hsa-miR-4802-5p	CLIP-seq
MIRT821179	hsa-miR-541	CLIP-seq
MIRT821180	hsa-miR-654-5p	CLIP-seq
MIRT1545734	hsa-miR-101	CLIP-seq
MIRT1545735	hsa-miR-1291	CLIP-seq
MIRT1545736	hsa-miR-296-3p	CLIP-seq
MIRT1545737	hsa-miR-296-5p	CLIP-seq
MIRT1545738	hsa-miR-3122	CLIP-seq
MIRT1545739	hsa-miR-3614-5p	CLIP-seq
MIRT1545740	hsa-miR-3689a-3p	CLIP-seq
MIRT1545741	hsa-miR-3689c	CLIP-seq
MIRT1545742	hsa-miR-3913-5p	CLIP-seq
MIRT1545743	hsa-miR-3940-5p	CLIP-seq
MIRT1545744	hsa-miR-4488	CLIP-seq
MIRT1545745	hsa-miR-4507	CLIP-seq
MIRT1545746	hsa-miR-4645-3p	CLIP-seq
MIRT1545747	hsa-miR-4649-3p	CLIP-seq
MIRT1545748	hsa-miR-4697-5p	CLIP-seq
MIRT1545749	hsa-miR-4728-5p	CLIP-seq
MIRT1545750	hsa-miR-4785	CLIP-seq
MIRT1545751	hsa-miR-488	CLIP-seq
MIRT1545752	hsa-miR-542-5p	CLIP-seq
MIRT1545753	hsa-miR-552	CLIP-seq
MIRT1545754	hsa-miR-629	CLIP-seq
MIRT1556031	hsa-miR-1915	CLIP-seq
MIRT1556032	hsa-miR-2117	CLIP-seq
MIRT1556033	hsa-miR-3117-3p	CLIP-seq
MIRT1556034	hsa-miR-3169	CLIP-seq
MIRT1556035	hsa-miR-3199	CLIP-seq
MIRT1556036	hsa-miR-4273	CLIP-seq
MIRT1556037	hsa-miR-4279	CLIP-seq
MIRT1556038	hsa-miR-4759	CLIP-seq
MIRT1942729	hsa-miR-1281	CLIP-seq
MIRT1545740	hsa-miR-3689a-3p	CLIP-seq
MIRT1545741	hsa-miR-3689c	CLIP-seq
MIRT1942730	hsa-miR-4436b-3p	CLIP-seq
MIRT1545751	hsa-miR-488	CLIP-seq
MIRT821168	hsa-miR-1293	CLIP-seq
MIRT821171	hsa-miR-2278	CLIP-seq
MIRT1545738	hsa-miR-3122	CLIP-seq
MIRT821172	hsa-miR-326	CLIP-seq
MIRT821173	hsa-miR-330-5p	CLIP-seq
MIRT1545739	hsa-miR-3614-5p	CLIP-seq
MIRT1545740	hsa-miR-3689a-3p	CLIP-seq
MIRT1545741	hsa-miR-3689c	CLIP-seq
MIRT1545742	hsa-miR-3913-5p	CLIP-seq
MIRT2181509	hsa-miR-3922-5p	CLIP-seq
MIRT1545743	hsa-miR-3940-5p	CLIP-seq
MIRT1942730	hsa-miR-4436b-3p	CLIP-seq
MIRT2181510	hsa-miR-4447	CLIP-seq
MIRT2181511	hsa-miR-4468	CLIP-seq
MIRT2181512	hsa-miR-4472	CLIP-seq
MIRT821174	hsa-miR-4483	CLIP-seq
MIRT1545745	hsa-miR-4507	CLIP-seq
MIRT821176	hsa-miR-4687-3p	CLIP-seq
MIRT2181513	hsa-miR-4691-3p	CLIP-seq
MIRT2181514	hsa-miR-4708-3p	CLIP-seq
MIRT821179	hsa-miR-541	CLIP-seq
MIRT1545754	hsa-miR-629	CLIP-seq
MIRT821180	hsa-miR-654-5p	CLIP-seq
MIRT2444789	hsa-miR-1909	CLIP-seq
MIRT821171	hsa-miR-2278	CLIP-seq
MIRT2444790	hsa-miR-4660	CLIP-seq
MIRT821176	hsa-miR-4687-3p	CLIP-seq
MIRT2444791	hsa-miR-4688	CLIP-seq
MIRT2444792	hsa-miR-486-3p	CLIP-seq
MIRT821179	hsa-miR-541	CLIP-seq
MIRT821180	hsa-miR-654-5p	CLIP-seq
MIRT2484923	hsa-miR-122	CLIP-seq
MIRT821167	hsa-miR-1273f	CLIP-seq
MIRT2484924	hsa-miR-185	CLIP-seq
MIRT821170	hsa-miR-1972	CLIP-seq
MIRT2484925	hsa-miR-298	CLIP-seq
MIRT2484926	hsa-miR-3714	CLIP-seq
MIRT2484927	hsa-miR-3911	CLIP-seq
MIRT2484928	hsa-miR-3915	CLIP-seq
MIRT2181509	hsa-miR-3922-5p	CLIP-seq
MIRT2484929	hsa-miR-3928	CLIP-seq
MIRT2484930	hsa-miR-4267	CLIP-seq
MIRT2484931	hsa-miR-4274	CLIP-seq
MIRT2484932	hsa-miR-4306	CLIP-seq
MIRT2484933	hsa-miR-4455	CLIP-seq
MIRT2484934	hsa-miR-4475	CLIP-seq
MIRT2484935	hsa-miR-4493	CLIP-seq
MIRT821175	hsa-miR-4534	CLIP-seq
MIRT2484936	hsa-miR-4644	CLIP-seq
MIRT1545747	hsa-miR-4649-3p	CLIP-seq
MIRT821177	hsa-miR-4717-5p	CLIP-seq
MIRT2484937	hsa-miR-4753-5p	CLIP-seq
MIRT2484938	hsa-miR-4786-3p	CLIP-seq
MIRT821178	hsa-miR-4802-5p	CLIP-seq
MIRT1545751	hsa-miR-488	CLIP-seq
MIRT2484923	hsa-miR-122	CLIP-seq
MIRT821167	hsa-miR-1273f	CLIP-seq
MIRT2484924	hsa-miR-185	CLIP-seq
MIRT1556031	hsa-miR-1915	CLIP-seq
MIRT821170	hsa-miR-1972	CLIP-seq
MIRT1556032	hsa-miR-2117	CLIP-seq
MIRT2484925	hsa-miR-298	CLIP-seq
MIRT1556033	hsa-miR-3117-3p	CLIP-seq
MIRT1556034	hsa-miR-3169	CLIP-seq
MIRT1556035	hsa-miR-3199	CLIP-seq
MIRT2484926	hsa-miR-3714	CLIP-seq
MIRT2484927	hsa-miR-3911	CLIP-seq
MIRT2484928	hsa-miR-3915	CLIP-seq
MIRT2181509	hsa-miR-3922-5p	CLIP-seq
MIRT2484929	hsa-miR-3928	CLIP-seq
MIRT2484930	hsa-miR-4267	CLIP-seq
MIRT1556036	hsa-miR-4273	CLIP-seq
MIRT2484931	hsa-miR-4274	CLIP-seq
MIRT1556037	hsa-miR-4279	CLIP-seq
MIRT2484932	hsa-miR-4306	CLIP-seq
MIRT2484933	hsa-miR-4455	CLIP-seq
MIRT2484934	hsa-miR-4475	CLIP-seq
MIRT2484935	hsa-miR-4493	CLIP-seq
MIRT2675962	hsa-miR-4515	CLIP-seq
MIRT821175	hsa-miR-4534	CLIP-seq
MIRT2484936	hsa-miR-4644	CLIP-seq
MIRT1545747	hsa-miR-4649-3p	CLIP-seq
MIRT821177	hsa-miR-4717-5p	CLIP-seq
MIRT2484937	hsa-miR-4753-5p	CLIP-seq
MIRT1556038	hsa-miR-4759	CLIP-seq
MIRT2484938	hsa-miR-4786-3p	CLIP-seq
MIRT821178	hsa-miR-4802-5p	CLIP-seq
MIRT1545751	hsa-miR-488	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFKB1	Activation	15536164
RELA	Activation	15536164

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	1860845
GO:0005515	Function	Protein binding	IPI	11598131, 32814053
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005796	Component	Golgi lumen	TAS
GO:0009986	Component	Cell surface	IDA	2212616
GO:0019955	Function	Cytokine binding	IEA
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030133	Component	Transport vesicle	IDA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	NAS	1860845
GO:0042383	Component	Sarcolemma	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0060348	Process	Bone development	IEA
GO:0061975	Process	Articular cartilage development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
301870	1044	ENSG00000182492

P21810

Protein name

Biglycan (Bone/cartilage proteoglycan I) (PG-S1)

Protein function

May be involved in collagen fiber assembly.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	62 → 89	Leucine rich repeat N-terminal domain	Family
PF13855	LRR_8	90 → 150	Leucine rich repeat	Repeat
PF13855	LRR_8	159 → 220	Leucine rich repeat	Repeat
PF13855	LRR_8	229 → 289	Leucine rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Found in several connective tissues, especially in articular cartilages. {ECO:0000269|PubMed:32337544}.

Sequence

MWPLWRLVSLLALSQALPFEQRGFWDFTLDDGPFMMNDEEASGADTSGVLDPDSVTPTYS
AMCPFGCHCHLRVVQCSDLGLKSVPKEISPDTTLLDLQNNDISELRKDDFKGLQHLYALV
LVNNKISKIHEKAFSPLRKLQKLYISKNHLVEIPPNLPSSLVELRIHDNRIRKVPKGVFS
GLRNMNCIEMGGNPLENSGFEPGAFDGLKLNYLRISEAKLTGIPKDLPETLNELHLDHNK
IQAIELEDLLRYSKLYRLGLGHNQIRMIENGSLSFLPTLRELHLDNNKLARVPSGLPDLK
LLQVVYLHSNNITKVGVNDFCPMGFGVKRAYYNGISLFNNPVPYWEVQPATFRCVTDRLA
IQFGNYKK

Sequence length

368

Interactions

View interactions

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial aortopathy	Likely pathogenic	rs2124232156	RCV003226724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	rs886037823	RCV000256226	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meester-Loeys syndrome	Likely pathogenic; Pathogenic	rs1556993331, rs1556992691, rs2124232156, rs886037823, rs2521203628, rs2521227899, rs2521219168, rs1602981441	RCV004552085 RCV002272960 RCV004548503 RCV000412663 RCV004554227 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked spondyloepimetaphyseal dysplasia	Likely pathogenic; Pathogenic	rs782199865, rs879255604, rs879255605	RCV002306435 RCV000236799 RCV000235501	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BGN-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SEVERE SYNDROMIC THORACIC AORTIC ANEURYSM AND DISSECTION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (218)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	27034473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31264215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15536164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17660861	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	29921372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10652025		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	15536164		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27022229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	27632686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	9786264	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	11854734, 12417272, 9536978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	27632686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	27632686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic rupture	Pubtator	27632686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	22982459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	20382708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	20382708, 21185747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27034473, 28932086, 29182988, 29438988, 31672572, 8662974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27034473, 28932086, 29182988, 29438988, 31672572, 8662974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	8662974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34332113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	23831768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	8828037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24223213, 31176613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	36640472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16126909, 19531650, 29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36972253	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL	Cadasil	Pubtator	25578324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	25578324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22982459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	18602826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32050430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15642389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24223213, 31176613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	7706768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23393390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	25173489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26703441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia	Pubtator	8828037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	1612609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16938379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25371074, 26459740, 29761248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25371074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31612481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21879307, 28424419, 28687755, 31258726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21879307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28424419, 28687755, 32050430, 32961078, 33096021, 33472555, 35130618, 36377223, 37024866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30385593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	Pubtator	7490271	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	21029365	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	7490271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	7490271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	1612609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	18602826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30575044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	10712202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	10384983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	10384983		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	18602826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	18082196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28419987, 29402456, 30104894, 31505082, 31608236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	10652025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	25578972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	17660861	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30563371, 31040779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29253517, 30563371, 31040779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32802835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19502413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	10652025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10652025, 28912302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27077767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	BEFREE	10652025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	27632686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10666680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	1612609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	16183658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31672572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	16583246		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	Ehlers-Danlos Syndrome	BEFREE	27585241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26275380, 26308071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24641675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24228112, 31950035, 35789548, 39256753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	19523462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	17502576, 27632686		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosarcoma	Fibrosarcoma	BEFREE	17925402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27925300, 30385593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	BEFREE	16205164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	32041551, 35731239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	29875257, 31058531, 31331390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31773303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24645841, 29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11168935, 15332124, 8662974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	21494642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36640472, 7490271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30575044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	22982459	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27077767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	10763942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22590492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	1612609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23008153		★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21494642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27465988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	25293819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	18490072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	31478096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10652025, 11012890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11012890, 29777767		★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	9786935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	9786935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36531688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33709550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	21084753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	21084753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21084753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	21084753, 29253517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	21084753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21998129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24228112, 28830008	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23400934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29859377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19531650, 29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26275380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11522750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28830008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21998129, 24681892, 27590684, 29050278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24223213, 31176613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21252914, 21879307, 22374465, 25195038, 25371074, 25715761, 26735930, 27590684, 29129850, 30629950, 31626700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25371074, 26459740, 29761248		★★★★★ ★☆☆☆☆ Found in Text Mining only
MEESTER-LOEYS SYNDROME	MEESTER-LOEYS SYNDROME	GENOMICS_ENGLAND_DG	27632686		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEESTER-LOEYS SYNDROME	MEESTER-LOEYS SYNDROME	UNIPROT_DG	27632686		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEESTER-LOEYS SYNDROME	MEESTER-LOEYS SYNDROME	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEESTER-LOEYS SYNDROME	MEESTER-LOEYS SYNDROME	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	BEFREE	28476030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	15332124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30861580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	16183658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	BEFREE	16183658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	16989735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	16183658, 27485975, 29481844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36531688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18299507, 22095710, 23393390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	21672074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	11425208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10652025, 16126909, 17925402, 18794116, 20332776, 20600070, 21879307, 21998129, 22374465, 24223213, 26936801, 27295191, 27590684, 28830008, 29632715, 29921372, 29984655, 7706768 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30712922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	BEFREE	10652025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30088173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30088173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	18602826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21775118, 27465988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27465988	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	29921372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11597178, 26703441, 32832544, 36640472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	7484289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	12975603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	12975603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	15332124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11746520, 21834878, 30406034, 9199208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36280393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	24641675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11522750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12140283, 15332124, 23007878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15475935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29630675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	29630675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	36632455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	27600268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	21672074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28830008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28830008, 37108678, 37394064, 37460872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30385593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35358652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11350814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29253517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	10652025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11711525, 31483776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31483776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	9579811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	15292528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22682473, 29402456		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	16183658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	20015203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	BEFREE	27236923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	UNIPROT_DG	27236923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	ORPHANET_DG	27236923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	GENOMICS_ENGLAND_DG	27632686		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, X-Linked	Spondyloenchondrodysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24228112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35358652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21998129, 24681892, 27590684, 29050278, 31739592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21998129, 24700175, 31739592, 31848941, 32041551, 32058995, 32314688, 32590738, 32908877, 33542925, 34356118, 34868341, 34899080, 35328635, 35756405 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23704827	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27590684	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	28799258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31778579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30457356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	16219640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	38256024	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35003899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	9421237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	24223098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28459201, 30723390, 34116604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28459201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37582570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20424334, 24602133		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal Dysplasia, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

BGN (biglycan)