COL4A2 (collagen type IV alpha 2 chain)

Gene

• Entrez ID: 1284
• Gene name: Collagen type IV alpha 2 chain
• Gene symbol: COL4A2
• Synonyms (NCBI Gene): BSVD2, ICH, POREN2
• Chromosome: 13
• Chromosome location: 13q34
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12877501	G>A,C	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs62621875	C>A	Risk-factor, benign, likely-benign	Missense variant, coding sequence variant
rs117412802	A>G	Likely-benign, risk-factor, benign	Missense variant, coding sequence variant
rs201105747	G>A,T	Risk-factor, likely-benign, benign	Coding sequence variant, missense variant
rs387906602	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906603	G>A	Pathogenic	Coding sequence variant, missense variant
rs776550709	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs969435078	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519090	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057523764	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797180	G>A	Likely-pathogenic	Splice acceptor variant
rs1085307983	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555331796	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566525717	G>C	Pathogenic	Splice acceptor variant
rs1594088780	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT003220	hsa-miR-29a-3p	qRT-PCR	22864815
MIRT001926	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT020729	hsa-miR-155-5p	Proteomics	18668040
MIRT029546	hsa-miR-26b-5p	Microarray	19088304
MIRT051129	hsa-miR-16-5p	CLASH	23622248
MIRT049302	hsa-miR-92a-3p	CLASH	23622248
MIRT047706	hsa-miR-10a-5p	CLASH	23622248
MIRT040463	hsa-miR-615-3p	CLASH	23622248
MIRT054207	hsa-miR-210-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT054216	hsa-miR-147b	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT003220	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT000099	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT001926	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437565	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT003220	hsa-miR-29a-3p	Western blot, Luciferase reporter assay, Immunofluorescence	25241894
MIRT000099	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT732961	hsa-miR-1260a	Immunofluorescence, Immunohistochemistry (IHC), RNA-seq, qRT-PCR, Western blotting	34256779
MIRT733035	hsa-miR-122-5p	RNA-seq	33407671
MIRT054207	hsa-miR-210-3p	Microarray, qRT-PCR	35816043
MIRT902800	hsa-miR-3144-5p	CLIP-seq
MIRT902801	hsa-miR-3151	CLIP-seq
MIRT902802	hsa-miR-3191	CLIP-seq
MIRT902803	hsa-miR-34a	CLIP-seq
MIRT902804	hsa-miR-34c-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT902807	hsa-miR-449a	CLIP-seq
MIRT902808	hsa-miR-449b	CLIP-seq
MIRT902809	hsa-miR-4652-5p	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT902813	hsa-miR-491-5p	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547059	hsa-miR-106a	CLIP-seq
MIRT1547060	hsa-miR-106b	CLIP-seq
MIRT1547061	hsa-miR-1231	CLIP-seq
MIRT1547062	hsa-miR-1256	CLIP-seq
MIRT1547063	hsa-miR-1266	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547065	hsa-miR-17	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT1547067	hsa-miR-20a	CLIP-seq
MIRT1547068	hsa-miR-20b	CLIP-seq
MIRT1547069	hsa-miR-216a	CLIP-seq
MIRT1547070	hsa-miR-219-1-3p	CLIP-seq
MIRT1547071	hsa-miR-29a	CLIP-seq
MIRT1547072	hsa-miR-29b	CLIP-seq
MIRT1547073	hsa-miR-29c	CLIP-seq
MIRT1547074	hsa-miR-361-3p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547080	hsa-miR-3664-3p	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547084	hsa-miR-3978	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547086	hsa-miR-4270	CLIP-seq
MIRT1547087	hsa-miR-4288	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT1547088	hsa-miR-4441	CLIP-seq
MIRT1547089	hsa-miR-4446-3p	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT1547094	hsa-miR-4518	CLIP-seq
MIRT1547095	hsa-miR-4519	CLIP-seq
MIRT1547096	hsa-miR-4530	CLIP-seq
MIRT1547097	hsa-miR-4656	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT1547102	hsa-miR-4795-5p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT1547107	hsa-miR-519d	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT1547110	hsa-miR-571	CLIP-seq
MIRT1547111	hsa-miR-632	CLIP-seq
MIRT1547112	hsa-miR-93	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT1967736	hsa-miR-4640-5p	CLIP-seq
MIRT1967737	hsa-miR-4726-5p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT2203561	hsa-miR-3122	CLIP-seq
MIRT2203562	hsa-miR-3143	CLIP-seq
MIRT902800	hsa-miR-3144-5p	CLIP-seq
MIRT902801	hsa-miR-3151	CLIP-seq
MIRT902802	hsa-miR-3191	CLIP-seq
MIRT902803	hsa-miR-34a	CLIP-seq
MIRT902804	hsa-miR-34c-5p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT2203563	hsa-miR-3913-5p	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT2203564	hsa-miR-4487	CLIP-seq
MIRT902807	hsa-miR-449a	CLIP-seq
MIRT902808	hsa-miR-449b	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT2203565	hsa-miR-4633-3p	CLIP-seq
MIRT902809	hsa-miR-4652-5p	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT2203566	hsa-miR-4720-5p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT2203567	hsa-miR-4799-3p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT902813	hsa-miR-491-5p	CLIP-seq
MIRT2203568	hsa-miR-543	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT2203569	hsa-miR-609	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT902810	hsa-miR-4690-5p	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT1547051	hsa-let-7a	CLIP-seq
MIRT1547052	hsa-let-7b	CLIP-seq
MIRT1547053	hsa-let-7c	CLIP-seq
MIRT1547054	hsa-let-7d	CLIP-seq
MIRT1547055	hsa-let-7e	CLIP-seq
MIRT1547056	hsa-let-7f	CLIP-seq
MIRT1547057	hsa-let-7g	CLIP-seq
MIRT1547058	hsa-let-7i	CLIP-seq
MIRT1547059	hsa-miR-106a	CLIP-seq
MIRT1547060	hsa-miR-106b	CLIP-seq
MIRT1547061	hsa-miR-1231	CLIP-seq
MIRT1547062	hsa-miR-1256	CLIP-seq
MIRT1547064	hsa-miR-140-5p	CLIP-seq
MIRT1547065	hsa-miR-17	CLIP-seq
MIRT1547066	hsa-miR-202	CLIP-seq
MIRT1547067	hsa-miR-20a	CLIP-seq
MIRT1547068	hsa-miR-20b	CLIP-seq
MIRT1547074	hsa-miR-361-3p	CLIP-seq
MIRT1547075	hsa-miR-3622a-3p	CLIP-seq
MIRT1547076	hsa-miR-3622b-3p	CLIP-seq
MIRT1547077	hsa-miR-3650	CLIP-seq
MIRT1547078	hsa-miR-3653	CLIP-seq
MIRT1547079	hsa-miR-3658	CLIP-seq
MIRT1547081	hsa-miR-3674	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT902805	hsa-miR-3937	CLIP-seq
MIRT1547083	hsa-miR-3941	CLIP-seq
MIRT1547084	hsa-miR-3978	CLIP-seq
MIRT1547085	hsa-miR-409-5p	CLIP-seq
MIRT1547087	hsa-miR-4288	CLIP-seq
MIRT902806	hsa-miR-4297	CLIP-seq
MIRT1547090	hsa-miR-4455	CLIP-seq
MIRT1547091	hsa-miR-4458	CLIP-seq
MIRT1547092	hsa-miR-4459	CLIP-seq
MIRT1547093	hsa-miR-4500	CLIP-seq
MIRT1547095	hsa-miR-4519	CLIP-seq
MIRT1547096	hsa-miR-4530	CLIP-seq
MIRT1547098	hsa-miR-466	CLIP-seq
MIRT1547099	hsa-miR-4666-5p	CLIP-seq
MIRT1547100	hsa-miR-4672	CLIP-seq
MIRT902811	hsa-miR-4746-3p	CLIP-seq
MIRT1547101	hsa-miR-4779	CLIP-seq
MIRT1547102	hsa-miR-4795-5p	CLIP-seq
MIRT1547103	hsa-miR-4802-3p	CLIP-seq
MIRT902812	hsa-miR-486-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT1547107	hsa-miR-519d	CLIP-seq
MIRT1547108	hsa-miR-544b	CLIP-seq
MIRT1547109	hsa-miR-550a	CLIP-seq
MIRT2203569	hsa-miR-609	CLIP-seq
MIRT1547111	hsa-miR-632	CLIP-seq
MIRT1547112	hsa-miR-93	CLIP-seq
MIRT1547113	hsa-miR-98	CLIP-seq
MIRT2436296	hsa-miR-1207-5p	CLIP-seq
MIRT2436297	hsa-miR-1287	CLIP-seq
MIRT2436298	hsa-miR-302a	CLIP-seq
MIRT2436299	hsa-miR-302b	CLIP-seq
MIRT2436300	hsa-miR-302c	CLIP-seq
MIRT2436301	hsa-miR-302d	CLIP-seq
MIRT2436302	hsa-miR-302e	CLIP-seq
MIRT2436303	hsa-miR-3135b	CLIP-seq
MIRT2436304	hsa-miR-372	CLIP-seq
MIRT2436305	hsa-miR-373	CLIP-seq
MIRT2436306	hsa-miR-4736	CLIP-seq
MIRT2436307	hsa-miR-4763-3p	CLIP-seq
MIRT2436308	hsa-miR-512-3p	CLIP-seq
MIRT1547104	hsa-miR-519a	CLIP-seq
MIRT1547105	hsa-miR-519b-3p	CLIP-seq
MIRT1547106	hsa-miR-519c-3p	CLIP-seq
MIRT2436309	hsa-miR-520a-3p	CLIP-seq
MIRT2436310	hsa-miR-520b	CLIP-seq
MIRT2436311	hsa-miR-520c-3p	CLIP-seq
MIRT2436312	hsa-miR-520d-3p	CLIP-seq
MIRT2436313	hsa-miR-520e	CLIP-seq
MIRT2506558	hsa-miR-186	CLIP-seq
MIRT2506559	hsa-miR-192	CLIP-seq
MIRT2506560	hsa-miR-215	CLIP-seq
MIRT2506561	hsa-miR-2964a-5p	CLIP-seq
MIRT2506562	hsa-miR-3130-5p	CLIP-seq
MIRT2506563	hsa-miR-3545-5p	CLIP-seq
MIRT2506564	hsa-miR-361-5p	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT2506565	hsa-miR-4302	CLIP-seq
MIRT2506566	hsa-miR-4436b-5p	CLIP-seq
MIRT2506567	hsa-miR-4470	CLIP-seq
MIRT2506568	hsa-miR-4482	CLIP-seq
MIRT2506569	hsa-miR-4682	CLIP-seq
MIRT2506570	hsa-miR-4727-5p	CLIP-seq
MIRT2506571	hsa-miR-4764-5p	CLIP-seq
MIRT2506572	hsa-miR-4776-3p	CLIP-seq
MIRT2506573	hsa-miR-4796-5p	CLIP-seq
MIRT2506574	hsa-miR-601	CLIP-seq
MIRT2506558	hsa-miR-186	CLIP-seq
MIRT2506559	hsa-miR-192	CLIP-seq
MIRT2506560	hsa-miR-215	CLIP-seq
MIRT2506561	hsa-miR-2964a-5p	CLIP-seq
MIRT2506562	hsa-miR-3130-5p	CLIP-seq
MIRT2506563	hsa-miR-3545-5p	CLIP-seq
MIRT1547082	hsa-miR-3688-5p	CLIP-seq
MIRT2506565	hsa-miR-4302	CLIP-seq
MIRT2506566	hsa-miR-4436b-5p	CLIP-seq
MIRT2506567	hsa-miR-4470	CLIP-seq
MIRT2506568	hsa-miR-4482	CLIP-seq
MIRT2506569	hsa-miR-4682	CLIP-seq
MIRT2506570	hsa-miR-4727-5p	CLIP-seq
MIRT2506571	hsa-miR-4764-5p	CLIP-seq
MIRT2506572	hsa-miR-4776-3p	CLIP-seq
MIRT2506573	hsa-miR-4796-5p	CLIP-seq
MIRT2506574	hsa-miR-601	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
VHL	Unknown	17700531

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8317999
GO:0005515	Function	Protein binding	IPI	12011424
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IBA
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005587	Component	Collagen type IV trimer	TAS	2846280, 3345760
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IDA	10625665
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 27068509, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	NAS	8317999
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27068509, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IBA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	30443360
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA

Other IDs

• MIM: 120090
• HGNC: 2203
• e!Ensembl: ENSG00000134871

Protein

• UniProt ID: P08572
• Protein name: Collagen alpha-2(IV) chain [Cleaved into: Canstatin]
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.; Canstatin, a cleavage product corresponding to th
• PDB: 1LI1, 5NAX, 5NB2, 6MPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	56 → 118	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	112 → 173	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	182 → 234	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	291 → 353	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	423 → 483	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	491 → 552	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	679 → 740	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	720 → 778	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	777 → 838	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	812 → 892	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	862 → 938	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	920 → 981	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1032 → 1096	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1098 → 1157	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1152 → 1214	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1278 → 1340	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1332 → 1396	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1490 → 1595	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1598 → 1710	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Sequence:

  MGRDQRAVAGPALRRWLLLGTVTVGFLAQSVLAGVKKFDVPCGGRDCSGGCQCYPEKGGR
  GQPGPVGPQGYNGPPGLQGFPGLQGRKGDKGERGAPGVTGPKGDVGARGVSGFPGADGIP
  GHPGQGGPRGRPGYDGCNGTQGDSGPQGPPGSEGFTGPPGPQGPKGQKGEPYALPKEERD
  RYRGEPGEPGLVGFQGPPGRPGHVGQMGPVGAPGRPGPPGPPGPKGQQGNRGLGFYGVKG
  EKGDVGQPGPNGIPSDTLHPIIAPTGVTFHPDQYKGEKGSEGEPGIRGISLKGEEGIMGF
  PGLRGYPGLSGEKGSPGQKGSRGLDGYQGPDGPRGPKGEAGDPGPPGLPAYSPHPSLAKG
  ARGDPGFPGAQGEPGSQGEPGDPGLPGPPGLSIGDGDQRRGLPGEMGPKGFIGDPGIPAL
  YGGPPGPDGKRGPPGPPGLPGPPGPDGFLFGLKGAKGRAGFPGLPGSPGARGPKGWKGDA
  GECRCTEGDEAIKGLPGLPGPKGFAGINGEPGRKGDRGDPGQHGLPGFPGLKGVPGNIGA
  PGPKGAKGDSRTITTKGERGQPGVPGVPGMKGDDGSPGRDGLDGFPGLPGPPGDGIKGPP
  GDPGYPGIPGTKGTPGEMGPPGLGLPGLKGQRGFPGDAGLPGPPGFLGPPGPAGTPGQID
  CDTDVKRAVGGDRQEAIQPGCIGGPKGLPGLPGPPGPTGAKGLRGIPGFAGADGGPGPRG
  LPGDAGREGFPGPPGFIGPRGSKGAVGLPGPDGSPGPIGLPGPDGPPGERGLPGEVLGAQ
  PGPRGDAGVPGQPGLKGLPGDRGPPGFRGSQGMPGMPGLKGQPGLPGPSGQPGLYGPPGL
  HGFPGAPGQEGPLGLPGIPGREGLPGDRGDPGDTGAPGPVGMKGLSGDRGDAGFTGEQGH
  PGSPGFKGIDGMPGTPGLKGDRGSPGMDGFQGMPGLKGRPGFPGSKGEAGFFGIPGLKGL
  AGEPGFKGSRGDPGPPGPPPVILPGMKDIKGEKGDEGPMGLKGYLGAKGIQGMPGIPGLS
  GIPGLPGRPGHIKGVKGDIGVPGIPGLPGFPGVAGPPGITGFPGFIGSRGDKGAPGRAGL
  YGEIGATGDFGDIGDTINLPGRPGLKGERGTTGIPGLKGFFGEKGTEGDIGFPGITGVTG
  VQGPPGLKGQTGFPGLTGPPGSQGELGRIGLPGGKGDDGWPGAPGLPGFPGLRGIRGLHG
  LPGTKGFPGSPGSDIHGDPGFPGPPGERGDPGEANTLPGPVGVPGQKGDQGAPGERGPPG
  SPGLQGFPGITPPSNISGAPGDKGAPGIFGLKGYRGPPGPPGSAALPGSKGDTGNPGAPG
  TPGTKGWAGDSGPQGRPGVFGLPGEKGPRGEQGFMGNTGPTGAVGDRGPKGPKGDPGFPG
  APGTVGAPGIAGIPQKIAVQPGTVGPQGRRGPPGAPGEMGPQGPPGEPGFRGAPGKAGPQ
  GRGGVSAVPGFRGDEGPIGHQGPIGQEGAPGRPGSPGLPGMPGRSVSIGYLLVKHSQTDQ
  EPMCPVGMNKLWSGYSLLYFEGQEKAHNQDLGLAGSCLARFSTMPFLYCNPGDVCYYASR
  NDKSYWLSTTAPLPMMPVAEDEIKPYISRCSVCEAPAIAIAVHSQDVSIPHCPAGWRSLW
  IGYSFLMHTAAGDEGGGQSLVSPGSCLEDFRATPFIECNGGRGTCHYYANKYSFWLTTIP
  EQSFQGSPSADTLKAGLIRTHISRCQVCMKNL

• Sequence length: 1712

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
Cerebral palsy	Likely pathogenic	rs1013146465, rs2139538791, rs2139537197	RCV001796565 RCV001796562 RCV001849844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL4A2-related disorder	Likely pathogenic	rs2502050500, rs2502120134	RCV003123296 RCV004552404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2139537197	RCV001849844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intraventricular hemorrhage	Likely pathogenic	rs2139553210	RCV001391266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porencephaly 2	Pathogenic; Likely pathogenic	rs1220432347, rs2139558301, rs2139460629, rs2139534321, rs2502185131, rs2502206494, rs1880548859, rs2502135104, rs1884098435, rs2502153510, rs2502158166, rs387906602, rs387906603, rs1555333626, rs1566525717, rs1594113653, rs1594088780, rs1882975083, rs2139553210	RCV001730033 RCV002222868 RCV002226892 RCV002249005 RCV003107998 RCV002302849 RCV005254676 RCV003123247 RCV003327357 RCV004595322 RCV004595387 RCV000022467 RCV000022468 RCV005632434 RCV000679958 RCV000850252 RCV000995721 RCV001072141 RCV001358667	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2139537197	RCV001849844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1022142909	RCV005935088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bethlem myopathy 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN SMALL VESSEL DISEASE 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN SMALL VESSEL DISEASE 2B, AUTOSOMAL RECESSIVE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL4A1 or COL4A2-related cerebral small vessel disease	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL4A1/2-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL4A2-related cerebral small vessel disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
concomitant exotropia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PORENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage, intracerebral, susceptibility to	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joint hypermobility	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephalic cyst	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTTRAUMATIC PORENCEPHALIC CYST OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	BEFREE	22209246, 22333902, 24001601, 24317722, 25719457, 26708157		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22210714		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10536919		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30299230		★☆☆☆☆ Found in Text Mining only
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	32062133	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	31837516		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12937144	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27389912	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29411147, 30291030		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	30674594		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	25299107		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	15344896		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	35150448	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36811765	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	32515830	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26277786	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17899369		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27891193, 31613058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18548116		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31905170	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16630405		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25169943	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34313325	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25169943		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33558530	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24725463, 28393221, 29677463, 29796607		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24725463, 28393221, 38459180	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	26708157		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	30674594, 31232495		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	24001601, 28185542, 31430377, 32515830, 33247988, 33837277, 35943828, 39298701	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	29465539		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	33148145	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33837277	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	25653287, 29686024, 30159099, 31142225, 31214923		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	30859180, 31430377, 31719132, 33268848	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22209247, 22289441, 22914737, 24001601, 27951536, 27955808, 28858408, 30590425, 31227318, 31636598, 31747428		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	25719457, 30351356, 31051113		★☆☆☆☆ Found in Text Mining only
Chondromyxoid fibroma	Chondromyxoid Fibroma	BEFREE	17559135		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30340585		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33268848	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22320979, 24485021	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32515830	Associate	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25810372		★☆☆☆☆ Found in Text Mining only
Congenital porencephaly	Congenital Porencephaly	BEFREE	22209246, 22333902, 24001601, 24317722, 25719457, 26708157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital porencephaly	Congenital Porencephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28059143, 29677463, 29695241		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21966275, 28059143, 29677463, 29695241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	21966275, 27389912, 28642624, 35472719	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27389912	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21378990, 21966275		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25810372, 27389912, 28059143, 29677463, 29695241		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30674594		★☆☆☆☆ Found in Text Mining only
Developmental Porencephaly	Developmental Porencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34085602	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29695241		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29686024		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	30453810		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30413629, 33577044, 40055992	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25169943		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26631031	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36290884	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	28185542		★☆☆☆☆ Found in Text Mining only
Familial porencephaly	Porencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12937144, 17002787	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28393221	Associate	★☆☆☆☆ Found in Text Mining only
Hematoma Subdural	Hematoma	Pubtator	39350129	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	22209246	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	32515830, 40598578	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	33577044	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	LHGDN	18706356		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30486811		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30486811		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30159099		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30674594		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	12021518		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	35150448	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25653287, 29063241, 31227318, 31313138		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	21527998		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	21527998, 32165822	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24001601		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30340585		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22925684	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24390199		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	29940218		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26277786	Stimulate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	33577044	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16211220, 17899369		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16630405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17075979, 19481338		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30975489		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23818951, 27906681, 30580971, 30800594		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16211220, 17899369		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15974811, 26277786	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Pubtator	36811765	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35943828	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	35943828	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28977362		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30858953		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	22144573, 28438649, 28642624, 30580971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	27389912, 28642624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	22914737, 24390199, 31051113		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16630405, 17002787, 17075979, 17557121, 17700531, 17899369, 19481338, 25241894, 26631031, 27801735		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	17525254		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	1281619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30413629	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34085602, 34555498	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21052871	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38217543	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17075979, 19481338		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17075979	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	22209246	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31663982		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	31663982	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36438900	Associate	★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	33837277	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	33837277	Associate	★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephalic cyst	Porencephalic cyst	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephaly	Porencephaly	BEFREE	22209246, 22333902, 24001601, 24317722, 25719457, 26708157		★☆☆☆☆ Found in Text Mining only
Porencephaly	Porencephaly	GENOMICS_ENGLAND_DG	22209247		★☆☆☆☆ Found in Text Mining only
Porencephaly	Porencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
PORENCEPHALY 2	Porencephaly	UNIPROT_DG	22209246		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PORENCEPHALY 2	Porencephaly	GENOMICS_ENGLAND_DG	22209247, 24357685, 30315939		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PORENCEPHALY 2	Porencephaly	CLINVAR_DG	22333902		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PORENCEPHALY, FAMILIAL	Porencephaly	BEFREE	22333902		★☆☆☆☆ Found in Text Mining only
PORENCEPHALY, FAMILIAL	Porencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
PORENCEPHALY, FAMILIAL	Porencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Porencephaly, Type 1, Autosomal Dominant	Porencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30674594		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26158290, 35082164	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	38340697	Inhibit	★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	BEFREE	30315939		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	24812288	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30413629, 33577044	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34999279, 35426219	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30975489		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31886120, 37868053	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32106772	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28858408, 29212738, 30002147, 31313138, 31494460, 31608819		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	17216253		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27906681		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27906681	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36683048	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	25015674		★☆☆☆☆ Found in Text Mining only