BGN (biglycan)

Gene

• Entrez ID: 633
• Gene name: Biglycan
• Gene symbol: BGN
• Synonyms (NCBI Gene): DSPG1, MRLS, PG-S1, PGI, SEMDX, SLRR1A
• Disease Acronyms (UniProt): MRLS, SEMDX
• 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

SNPs

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

miRNA

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 assay, RNA-seq, qRT-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

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	15536164
RELA	Activation	15536164

Gene ontology (GO)

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	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005796	Component	Golgi lumen	TAS
GO:0008150	Process	Biological_process	ND
GO:0009986	Component	Cell surface	IDA	2212616
GO:0019800	Process	Peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan	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:0030198	Process	Extracellular matrix organization	TAS
GO:0030206	Process	Chondroitin sulfate biosynthetic process	TAS
GO:0030207	Process	Chondroitin sulfate catabolic process	TAS
GO:0030208	Process	Dermatan sulfate biosynthetic process	TAS
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:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 301870
• HGNC: 1044
• e!Ensembl: ENSG00000182492

Protein

• UniProt ID: 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

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate biosynthesis
Dermatan sulfate biosynthesis
CS/DS degradation
ECM proteoglycans
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective CHST14 causes EDS, musculocontractural type
Defective CHSY1 causes TPBS
Defective B3GALT6 causes EDSP2 and SEMDJL1

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Meester-loeys syndrome	MEESTER-LOEYS SYNDROME	rs886037823, rs1602981441	27632686
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	15292528
Spondyloenchondrodysplasia	Spondyloepimetaphyseal Dysplasia, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	27236923, 27632686
Spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal disorder	rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671
Spondyloepimetaphyseal dysplasia, x-linked	X-linked spondyloepimetaphyseal dysplasia	rs128624218, rs128624224, rs879255604, rs879255605
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077	17502576, 27632686

Unknown
Disease term	Disease name	Evidence	References	Source
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Inhibit	33709550
Alzheimer Disease	Stimulate	17660861
Aortic Aneurysm	Associate	27632686
Aortic Aneurysm Abdominal	Stimulate	9786264
Aortic Dissection	Associate	27632686
Aortic Rupture	Associate	27632686
Aortic Valve Stenosis	Associate	20382708, 21185747
Atherosclerosis	Associate	8662974
Atrial Fibrillation	Associate	34332113
Atrophy	Associate	23831768
Barth Syndrome	Associate	8828037
Brachydactyly	Associate	36640472
Breast Neoplasms	Inhibit	36972253
CADASIL	Associate	25578324
Calcinosis	Associate	22982459
Carcinogenesis	Associate	32050430
Carcinoma Pancreatic Ductal	Associate	31731384
Cartilage Diseases	Associate	26703441
Chondrodysplasia Punctata	Associate	8828037
Colonic Neoplasms	Associate	31612481
Colorectal Neoplasms	Associate	28424419, 28687755, 32050430, 32961078, 33096021, 33472555, 35130618, 36377223, 37024866
Congenital disorder of glycosylation type 2A	Stimulate	7490271
Congenital Disorders of Glycosylation	Stimulate	21029365
Congenital Disorders of Glycosylation	Associate	7490271
Costello Syndrome	Associate	10712202
COVID 19	Inhibit	34723226
COVID 19	Associate	40224213
Cystitis Interstitial	Associate	18082196
Cysts	Associate	24641675
Dementia Vascular	Associate	10652025
Dentinogenesis Imperfecta	Associate	25578972
Depressive Disorder Major	Stimulate	17660861
Diabetes Mellitus Type 2	Associate	32802835
Diabetic Nephropathies	Associate	10652025
Disease	Associate	36640472
Ehlers Danlos syndrome type 6	Associate	32853438
Endometriosis	Associate	24641675
Esophageal Squamous Cell Carcinoma	Associate	24228112, 31950035, 35789548, 39256753
Exfoliation Syndrome	Associate	37108678
Fibrocartilaginous embolism	Associate	32973250
Fibrosis	Associate	10652025, 11168935, 12140283, 8662974
Gastritis Atrophic	Associate	32041551, 35731239
Glomerulonephritis	Associate	11168935, 15332124, 8662974
Glomerulonephritis IGA	Associate	21494642
Growth Disorders	Associate	36640472, 7490271
Heart Valve Diseases	Stimulate	22982459
HEM dysplasia	Associate	27632686
Immunoglobulin Light chain Amyloidosis	Associate	10652025
Inflammation	Associate	21672074, 27465988, 31739592, 32050430
Insulin Resistance	Associate	27465988
Kidney Diseases	Associate	10652025, 11012890
Leiomyosarcoma	Associate	9786935
Leukemia Myeloid Acute	Associate	36531688
Lung Neoplasms	Associate	33709550
Lymphatic Metastasis	Associate	21998129
Lymphatic Metastasis	Stimulate	24228112, 28830008
Lymphoproliferative Syndrome X Linked 2	Associate	27632686
Mesothelioma	Associate	15332124
Mitral Valve Insufficiency	Associate	38523390
Mitral Valve Prolapse Myxomatous 1	Associate	18621549
Muscular Dystrophies	Associate	18602826
Muscular Dystrophy Duchenne	Associate	16989735
Myelodysplastic Syndromes	Associate	36531688
Myositis Inclusion Body	Associate	21672074
Neoplasm Metastasis	Associate	21998129, 28424419, 36377223
Neoplasm Metastasis	Stimulate	36110576
Neoplasms	Associate	12140283, 21998129, 24228112, 24700175, 27590684, 28830008, 30723390, 32050430, 33542925, 33709550, 34032698, 34116604, 34868341, 35003899, 35358652, 36110576, 36377223, 36632455, 37108678
Neoplasms	Inhibit	16908595
Neoplasms	Stimulate	32961078, 35130618
Neoplasms Adipose Tissue	Associate	27465988
Obesity	Stimulate	27465988
Osteoarthritis	Associate	11597178, 26703441, 32832544, 36640472
Osteoporosis	Associate	15332124
Osteosarcoma	Associate	36280393
Ovarian Diseases	Associate	24641675
Pancreatic Neoplasms	Associate	12140283, 15332124, 23007878
Pelvic Organ Prolapse	Associate	29630675
Peritonitis	Associate	36632455
Plaque Amyloid	Associate	10652025
Polymyositis	Associate	21672074
Polyposis Of Gastric Fundus Without Polyposis Coli	Associate	22066020
Prostatic Neoplasms	Associate	28830008, 37108678, 37394064, 37460872
Prostatic Neoplasms Castration Resistant	Associate	37394064
Pulmonary Disease Chronic Obstructive	Associate	35358652
Retinoblastoma	Associate	31483776
Scleroatonic muscular dystrophy	Associate	24223098
Shoulder Injuries	Associate	34162438
Shoulder Pain	Associate	34162438
Soft Tissue Injuries	Stimulate	27465988
Spondyloepimetaphyseal Dysplasia X Linked	Associate	27236923, 36640472
Squamous Cell Carcinoma of Head and Neck	Associate	35358652
Stomach Neoplasms	Associate	21998129, 24700175, 31739592, 31848941, 32041551, 32058995, 32314688, 32590738, 32908877, 33542925, 34356118, 34868341, 34899080, 35328635, 35756405, 36110576, 36158129, 36447214, 36632455, 37582570, 38041130, 40224213
Stomach Neoplasms	Inhibit	23704827
Stomach Neoplasms	Stimulate	27590684
Thrombosis	Inhibit	38256024
Triple Negative Breast Neoplasms	Associate	35003899
Urinary Bladder Neoplasms	Associate	28459201, 30723390, 34116604
Uterine Cervical Dysplasia	Associate	37582570