COL4A1 (collagen type IV alpha 1 chain)

Gene

• Entrez ID: 1282
• Gene name: Collagen type IV alpha 1 chain
• Gene symbol: COL4A1
• Synonyms (NCBI Gene): BSVD, BSVD1, COL4A1s, PADMAL, RATOR
• Chromosome: 13
• Chromosome location: 13q34
• Summary: This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75711155	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs113994104	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs113994105	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994106	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994107	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994108	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994109	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994111	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994112	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994113	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994114	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912857	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs145172612	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs150129180	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs183563055	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200786329	G>A	Risk-factor, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs267606743	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606744	C>G	Pathogenic	Coding sequence variant, missense variant
rs281865426	CC>AA	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397514624	G>A,C,T	Risk-factor	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs567124920	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587777379	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587780588	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs606231464	G>-,GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231465	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs672601346	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs672601347	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs672601348	G>A,C	Pathogenic	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs672601349	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs747585517	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs797044867	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045034	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041714	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041965	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517719	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518100	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057518654	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1057523325	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057523354	C>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064794777	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795130	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795935	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796811	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1085307568	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307614	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307709	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307816	C>T	Pathogenic	Splice donor variant
rs1085307907	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307967	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307982	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691834	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1461754052	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555302449	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302454	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302645	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555302735	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555302922	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302942	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303010	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303073	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303720	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555305682	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566349968	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566351456	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566353677	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566370178	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1594550371	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594555106	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594560766	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594566006	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594566751	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1594568948	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1594579579	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20067797
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT006821	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR	22573493
MIRT001927	hsa-miR-29c-3p	Sequencing	20371350
MIRT001927	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT022172	hsa-miR-124-3p	Microarray	18668037
MIRT024242	hsa-miR-218-5p	Sequencing	20371350
MIRT051073	hsa-miR-16-5p	CLASH	23622248
MIRT049483	hsa-miR-92a-3p	CLASH	23622248
MIRT048676	hsa-miR-99a-5p	CLASH	23622248
MIRT048584	hsa-miR-100-5p	CLASH	23622248
MIRT045748	hsa-miR-125a-5p	CLASH	23622248
MIRT041389	hsa-miR-193b-3p	CLASH	23622248
MIRT040877	hsa-miR-18a-3p	CLASH	23622248
MIRT039089	hsa-miR-769-3p	CLASH	23622248
MIRT005568	hsa-miR-29b-3p	Microarray	22942087
MIRT054906	hsa-miR-637	qRT-PCR	23362149
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437564	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT704515	hsa-miR-4318	HITS-CLIP	23313552
MIRT704514	hsa-miR-892a	HITS-CLIP	23313552
MIRT704513	hsa-miR-4272	HITS-CLIP	23313552
MIRT704512	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT704511	hsa-miR-4693-5p	HITS-CLIP	23313552
MIRT704510	hsa-miR-7159-5p	HITS-CLIP	23313552
MIRT704509	hsa-miR-505-3p	HITS-CLIP	23313552
MIRT704508	hsa-miR-421	HITS-CLIP	23313552
MIRT704507	hsa-miR-8070	HITS-CLIP	23313552
MIRT704506	hsa-miR-498	HITS-CLIP	23313552
MIRT704505	hsa-miR-1305	HITS-CLIP	23313552
MIRT704504	hsa-miR-335-3p	HITS-CLIP	23313552
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494164	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT494163	hsa-miR-5688	PAR-CLIP	20371350
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23446348
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23446348
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23446348
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT494163	hsa-miR-5688	PAR-CLIP	23446348
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT494160	hsa-miR-562	PAR-CLIP	23446348
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23446348
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT494157	hsa-miR-3185	PAR-CLIP	23446348
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23446348
MIRT494156	hsa-miR-4504	PAR-CLIP	23446348
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT494154	hsa-miR-5682	PAR-CLIP	23446348
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23446348
MIRT524405	hsa-miR-758-3p	PAR-CLIP	23446348
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT494163	hsa-miR-5688	PAR-CLIP	23592263
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT494160	hsa-miR-562	PAR-CLIP	23592263
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23592263
MIRT494157	hsa-miR-3185	PAR-CLIP	23592263
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT494156	hsa-miR-4504	PAR-CLIP	23592263
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT494154	hsa-miR-5682	PAR-CLIP	23592263
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT024242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT024242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT734988	hsa-miR-429	qRT-PCR	33079247
MIRT704515	hsa-miR-4318	HITS-CLIP	23313552
MIRT704514	hsa-miR-892a	HITS-CLIP	23313552
MIRT704513	hsa-miR-4272	HITS-CLIP	23313552
MIRT704512	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT704511	hsa-miR-4693-5p	HITS-CLIP	23313552
MIRT704510	hsa-miR-7159-5p	HITS-CLIP	23313552
MIRT704509	hsa-miR-505-3p	HITS-CLIP	23313552
MIRT704508	hsa-miR-421	HITS-CLIP	23313552
MIRT704507	hsa-miR-8070	HITS-CLIP	23313552
MIRT704506	hsa-miR-498	HITS-CLIP	23313552
MIRT704505	hsa-miR-1305	HITS-CLIP	23313552
MIRT704504	hsa-miR-335-3p	HITS-CLIP	23313552
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494164	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT494163	hsa-miR-5688	PAR-CLIP	20371350
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23446348
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23446348
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23446348
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT494163	hsa-miR-5688	PAR-CLIP	23446348
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT494160	hsa-miR-562	PAR-CLIP	23446348
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23446348
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT494157	hsa-miR-3185	PAR-CLIP	23446348
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23446348
MIRT494156	hsa-miR-4504	PAR-CLIP	23446348
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT494154	hsa-miR-5682	PAR-CLIP	23446348
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23446348
MIRT524405	hsa-miR-758-3p	PAR-CLIP	23446348
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT494163	hsa-miR-5688	PAR-CLIP	23592263
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT494160	hsa-miR-562	PAR-CLIP	23592263
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23592263
MIRT494157	hsa-miR-3185	PAR-CLIP	23592263
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT494156	hsa-miR-4504	PAR-CLIP	23592263
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT494154	hsa-miR-5682	PAR-CLIP	23592263
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT902786	hsa-miR-124	CLIP-seq
MIRT902787	hsa-miR-1270	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT902790	hsa-miR-2052	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT902792	hsa-miR-3606	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT902795	hsa-miR-4307	CLIP-seq
MIRT902796	hsa-miR-4531	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT902798	hsa-miR-620	CLIP-seq
MIRT902799	hsa-miR-921	CLIP-seq
MIRT1546964	hsa-let-7a	CLIP-seq
MIRT1546965	hsa-let-7b	CLIP-seq
MIRT1546966	hsa-let-7c	CLIP-seq
MIRT1546967	hsa-let-7d	CLIP-seq
MIRT1546968	hsa-let-7e	CLIP-seq
MIRT1546969	hsa-let-7f	CLIP-seq
MIRT1546970	hsa-let-7g	CLIP-seq
MIRT1546971	hsa-let-7i	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT902786	hsa-miR-124	CLIP-seq
MIRT902787	hsa-miR-1270	CLIP-seq
MIRT1546973	hsa-miR-1271	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT1546974	hsa-miR-1294	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT1546978	hsa-miR-182	CLIP-seq
MIRT1546979	hsa-miR-202	CLIP-seq
MIRT1546980	hsa-miR-205	CLIP-seq
MIRT1546981	hsa-miR-21	CLIP-seq
MIRT1546982	hsa-miR-2276	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546985	hsa-miR-299-5p	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT1546989	hsa-miR-300	CLIP-seq
MIRT1546990	hsa-miR-3065-5p	CLIP-seq
MIRT1546991	hsa-miR-3140-3p	CLIP-seq
MIRT1546992	hsa-miR-3145-3p	CLIP-seq
MIRT1546993	hsa-miR-3152-3p	CLIP-seq
MIRT1546994	hsa-miR-337-3p	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT902792	hsa-miR-3606	CLIP-seq
MIRT1546997	hsa-miR-3616-5p	CLIP-seq
MIRT1546998	hsa-miR-3619-3p	CLIP-seq
MIRT1546999	hsa-miR-3647-3p	CLIP-seq
MIRT1547000	hsa-miR-3647-5p	CLIP-seq
MIRT1547001	hsa-miR-3649	CLIP-seq
MIRT1547002	hsa-miR-3650	CLIP-seq
MIRT1547003	hsa-miR-3678-3p	CLIP-seq
MIRT1547004	hsa-miR-3688-5p	CLIP-seq
MIRT1547005	hsa-miR-3692	CLIP-seq
MIRT1547006	hsa-miR-369-3p	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT1547007	hsa-miR-374a	CLIP-seq
MIRT1547008	hsa-miR-374b	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT1547010	hsa-miR-381	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT1547011	hsa-miR-4255	CLIP-seq
MIRT1547012	hsa-miR-4279	CLIP-seq
MIRT1547013	hsa-miR-4291	CLIP-seq
MIRT1547014	hsa-miR-4328	CLIP-seq
MIRT1547015	hsa-miR-433	CLIP-seq
MIRT1547016	hsa-miR-4455	CLIP-seq
MIRT1547017	hsa-miR-4458	CLIP-seq
MIRT1547018	hsa-miR-4475	CLIP-seq
MIRT1547019	hsa-miR-4477b	CLIP-seq
MIRT1547020	hsa-miR-4500	CLIP-seq
MIRT1547021	hsa-miR-4520a-3p	CLIP-seq
MIRT1547022	hsa-miR-4520b-3p	CLIP-seq
MIRT902796	hsa-miR-4531	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT1547024	hsa-miR-4535	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT1547026	hsa-miR-4661-5p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT1547028	hsa-miR-4772-3p	CLIP-seq
MIRT1547029	hsa-miR-4775	CLIP-seq
MIRT1547030	hsa-miR-4776-5p	CLIP-seq
MIRT1547031	hsa-miR-4789-3p	CLIP-seq
MIRT1547032	hsa-miR-490-3p	CLIP-seq
MIRT1547033	hsa-miR-494	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT1547035	hsa-miR-511	CLIP-seq
MIRT1547036	hsa-miR-513a-3p	CLIP-seq
MIRT1547037	hsa-miR-544	CLIP-seq
MIRT1547038	hsa-miR-545	CLIP-seq
MIRT1547039	hsa-miR-548aa	CLIP-seq
MIRT1547040	hsa-miR-573	CLIP-seq
MIRT1547041	hsa-miR-590-3p	CLIP-seq
MIRT1547042	hsa-miR-590-5p	CLIP-seq
MIRT902798	hsa-miR-620	CLIP-seq
MIRT1547043	hsa-miR-626	CLIP-seq
MIRT1547044	hsa-miR-629	CLIP-seq
MIRT1547045	hsa-miR-646	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT1547047	hsa-miR-664	CLIP-seq
MIRT1547048	hsa-miR-758	CLIP-seq
MIRT902799	hsa-miR-921	CLIP-seq
MIRT1547049	hsa-miR-96	CLIP-seq
MIRT1547050	hsa-miR-98	CLIP-seq
MIRT1967727	hsa-miR-146b-3p	CLIP-seq
MIRT1967728	hsa-miR-3173-5p	CLIP-seq
MIRT1967729	hsa-miR-370	CLIP-seq
MIRT1967730	hsa-miR-4663	CLIP-seq
MIRT1967731	hsa-miR-4677-3p	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1967733	hsa-miR-518a-5p	CLIP-seq
MIRT1967734	hsa-miR-527	CLIP-seq
MIRT1967735	hsa-miR-874	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT1547048	hsa-miR-758	CLIP-seq
MIRT1546964	hsa-let-7a	CLIP-seq
MIRT1546965	hsa-let-7b	CLIP-seq
MIRT1546966	hsa-let-7c	CLIP-seq
MIRT1546967	hsa-let-7d	CLIP-seq
MIRT1546968	hsa-let-7e	CLIP-seq
MIRT1546969	hsa-let-7f	CLIP-seq
MIRT1546970	hsa-let-7g	CLIP-seq
MIRT1546971	hsa-let-7i	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT902786	hsa-miR-124	CLIP-seq
MIRT2427581	hsa-miR-1245b-5p	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT1546974	hsa-miR-1294	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT2427582	hsa-miR-186	CLIP-seq
MIRT1546979	hsa-miR-202	CLIP-seq
MIRT1546980	hsa-miR-205	CLIP-seq
MIRT1546981	hsa-miR-21	CLIP-seq
MIRT1546982	hsa-miR-2276	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546990	hsa-miR-3065-5p	CLIP-seq
MIRT2427583	hsa-miR-3132	CLIP-seq
MIRT2427584	hsa-miR-3133	CLIP-seq
MIRT2427585	hsa-miR-3134	CLIP-seq
MIRT2427586	hsa-miR-3142	CLIP-seq
MIRT2427587	hsa-miR-326	CLIP-seq
MIRT2427588	hsa-miR-330-5p	CLIP-seq
MIRT1546994	hsa-miR-337-3p	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT2427589	hsa-miR-3607-3p	CLIP-seq
MIRT2427590	hsa-miR-3613-3p	CLIP-seq
MIRT1546999	hsa-miR-3647-3p	CLIP-seq
MIRT2427591	hsa-miR-3653	CLIP-seq
MIRT2427592	hsa-miR-3658	CLIP-seq
MIRT2427593	hsa-miR-3675-3p	CLIP-seq
MIRT1547003	hsa-miR-3678-3p	CLIP-seq
MIRT2427594	hsa-miR-3686	CLIP-seq
MIRT2427595	hsa-miR-3689a-5p	CLIP-seq
MIRT2427596	hsa-miR-3689b	CLIP-seq
MIRT2427597	hsa-miR-3689d	CLIP-seq
MIRT2427598	hsa-miR-3689e	CLIP-seq
MIRT2427599	hsa-miR-3689f	CLIP-seq
MIRT1547006	hsa-miR-369-3p	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT2427600	hsa-miR-374c	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT2427601	hsa-miR-3973	CLIP-seq
MIRT2427602	hsa-miR-4252	CLIP-seq
MIRT1547011	hsa-miR-4255	CLIP-seq
MIRT1547012	hsa-miR-4279	CLIP-seq
MIRT2427603	hsa-miR-4305	CLIP-seq
MIRT2427604	hsa-miR-4443	CLIP-seq
MIRT2427605	hsa-miR-4452	CLIP-seq
MIRT1547017	hsa-miR-4458	CLIP-seq
MIRT1547020	hsa-miR-4500	CLIP-seq
MIRT2427606	hsa-miR-4502	CLIP-seq
MIRT1547021	hsa-miR-4520a-3p	CLIP-seq
MIRT1547022	hsa-miR-4520b-3p	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT2427607	hsa-miR-4643	CLIP-seq
MIRT2427608	hsa-miR-4650-3p	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT2427609	hsa-miR-466	CLIP-seq
MIRT2427610	hsa-miR-4666-5p	CLIP-seq
MIRT2427611	hsa-miR-4667-5p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT2427612	hsa-miR-4700-5p	CLIP-seq
MIRT2427613	hsa-miR-4729	CLIP-seq
MIRT2427614	hsa-miR-4762-3p	CLIP-seq
MIRT1547028	hsa-miR-4772-3p	CLIP-seq
MIRT1547031	hsa-miR-4789-3p	CLIP-seq
MIRT2427615	hsa-miR-488	CLIP-seq
MIRT1547033	hsa-miR-494	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT1547035	hsa-miR-511	CLIP-seq
MIRT1967733	hsa-miR-518a-5p	CLIP-seq
MIRT2427616	hsa-miR-520d-5p	CLIP-seq
MIRT2427617	hsa-miR-520g	CLIP-seq
MIRT2427618	hsa-miR-520h	CLIP-seq
MIRT2427619	hsa-miR-524-5p	CLIP-seq
MIRT1967734	hsa-miR-527	CLIP-seq
MIRT1547037	hsa-miR-544	CLIP-seq
MIRT1547039	hsa-miR-548aa	CLIP-seq
MIRT2427620	hsa-miR-548ac	CLIP-seq
MIRT2427621	hsa-miR-548ae	CLIP-seq
MIRT2427622	hsa-miR-548aj	CLIP-seq
MIRT2427623	hsa-miR-548am	CLIP-seq
MIRT2427624	hsa-miR-548d-3p	CLIP-seq
MIRT2427625	hsa-miR-548k	CLIP-seq
MIRT2427626	hsa-miR-548x	CLIP-seq
MIRT2427627	hsa-miR-548z	CLIP-seq
MIRT2427628	hsa-miR-556-3p	CLIP-seq
MIRT1547042	hsa-miR-590-5p	CLIP-seq
MIRT1547043	hsa-miR-626	CLIP-seq
MIRT2427629	hsa-miR-627	CLIP-seq
MIRT1547045	hsa-miR-646	CLIP-seq
MIRT2427630	hsa-miR-655	CLIP-seq
MIRT2427631	hsa-miR-924	CLIP-seq
MIRT1547050	hsa-miR-98	CLIP-seq
MIRT2436294	hsa-miR-1228	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT2427585	hsa-miR-3134	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT2427606	hsa-miR-4502	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT2427614	hsa-miR-4762-3p	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT2436295	hsa-miR-9	CLIP-seq
MIRT2436294	hsa-miR-1228	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT2506556	hsa-miR-3915	CLIP-seq
MIRT2506557	hsa-miR-3928	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT2436295	hsa-miR-9	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546991	hsa-miR-3140-3p	CLIP-seq
MIRT1546997	hsa-miR-3616-5p	CLIP-seq
MIRT1547000	hsa-miR-3647-5p	CLIP-seq
MIRT2506556	hsa-miR-3915	CLIP-seq
MIRT2506557	hsa-miR-3928	CLIP-seq
MIRT1547014	hsa-miR-4328	CLIP-seq
MIRT1547019	hsa-miR-4477b	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1547040	hsa-miR-573	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMX1B	Unknown	12602071

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IMP	20818663
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IMP	20818663
GO:0005515	Function	Protein binding	IPI	12011424
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
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	IMP	16107487
GO:0005604	Component	Basement membrane	IC	23065703
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007420	Process	Brain development	IMP	16107487
GO:0007528	Process	Neuromuscular junction development	IEA
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	IMP	16107487
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	23979707, 25037231, 27068509, 27559042, 28327460, 28675934
GO:0030855	Process	Epithelial cell differentiation	IEA
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:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048514	Process	Blood vessel morphogenesis	IMP	20818663
GO:0061304	Process	Retinal blood vessel morphogenesis	IMP	20818663
GO:0061333	Process	Renal tubule morphogenesis	IMP	18160688
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071711	Process	Basement membrane organization	IMP	18160688, 19949034, 23065703

Other IDs

• MIM: 120130
• HGNC: 2202
• e!Ensembl: ENSG00000187498

Protein

• UniProt ID: P02462
• Protein name: Collagen alpha-1(IV) chain [Cleaved into: Arresten]
• 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. ; Arresten, compris
• PDB: 1LI1, 5NAX, 5NAY, 6MPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	37 → 105	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	61 → 138	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	97 → 162	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	167 → 225	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	273 → 334	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	474 → 533	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	539 → 592	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	643 → 690	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	689 → 737	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	736 → 801	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	837 → 896	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	882 → 941	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	943 → 1005	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	999 → 1058	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1057 → 1117	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1384 → 1443	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1446 → 1553	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1556 → 1667	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in placenta. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:16481288}.
• Sequence:

  MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVI
  GFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPP
  GIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGI
  PGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPP
  GVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
  PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGP
  KGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG
  PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPG
  PQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLK
  GDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDT
  GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFP
  GPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNG
  LPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGI
  RGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG
  PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPG
  LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIG
  PIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPG
  TPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGE
  KGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGT
  PGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
  GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG
  IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKG
  LPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPK
  GQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTP
  SVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
  PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAV
  HSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRG
  TCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT

• Sequence length: 1669

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
NCAM1 interactions
Collagen chain trimerization

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
Abnormal cerebral cortex morphology	Likely pathogenic; Pathogenic	rs766209938	RCV001391264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cerebral morphology	Pathogenic	rs1566378788	RCV002275899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal corpus callosum morphology	Pathogenic	rs587780588	RCV001391278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs2139179173, rs2139146179, rs1877827904, rs1436175370, rs2139163150, rs672601346, rs2501749650, rs2501792333, rs2501800825, rs780492563, rs1879237220, rs112314120, rs2501540839, rs2501800882, rs1879717674, rs201606177, rs2501791888, rs2501783763, rs2501770861, rs2501757618, rs113994104, rs113994105, rs113994106, rs267606744, rs267606743, rs281865426, rs1555302454, rs2501787905, rs672601347, rs1057523354, rs1555303720, rs1594560766, rs1594579579, rs1877185960, rs1877832657, rs1878257364, rs1878411691, rs1877834934	RCV002246414 RCV002246469 RCV005005287 RCV001823797 RCV001837730 RCV002484524 RCV005006307 RCV002273284 RCV000989163 RCV002468826 RCV002468828 RCV002470464 RCV005010958 RCV005002854 RCV003142254 RCV003153199 RCV003322721 RCV005003655 RCV005013014 RCV003984909 RCV003991094 RCV003991357 RCV003991372 RCV000018961 RCV000018962 RCV000018963 RCV000018966 RCV000018967 RCV000018968 RCV004545953 RCV004555327 RCV002502498 RCV002248658 RCV003322607 RCV000989164 RCV000995720 RCV001281220 RCV001281219 RCV001281218 RCV001281217 RCV001251513	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain small vessel disease 1 with or without ocular anomalies	Pathogenic; Likely pathogenic	rs542803991, rs1877518903, rs1878012979, rs2139156007, rs766209938, rs375477517, rs2139245731, rs2139154554, rs2139146298, rs2139165506, rs2139169623, rs1594535661, rs2139163058, rs2139165584, rs2139162416, rs2139164265, rs587777379, rs1877827904, rs587780588, rs1436175370, rs2139154591, rs2139187455, rs2139149392, rs2139162955, rs2139165606, rs2139159594, rs2139160332, rs2139162750, rs2139164302, rs2139146303, rs2501787937, rs2501590784, rs2501779394, rs606231464, rs606231465, rs672601346, rs672601347, rs672601348, rs672601349, rs2501752012, rs2501608143, rs2501749906, rs780492563, rs1879237220, rs797044867, rs797045034, rs2501608003, rs2501780568, rs2501791898, rs2501779644, rs2501773131, rs2139207389, rs2501607993, rs1879717674, rs2501568764, rs2139162781, rs2501584950, rs2501770185, rs201606177, rs2501791888, rs2501741449, rs2501783763, rs113994112, rs113994109, rs121912857, rs113994103, rs113994111, rs113994113, rs113994108, rs113994114, rs2501777443, rs2501741661, rs1057518654, rs1057523325, rs1057523354, rs1064794777, rs1555303720, rs1555302922, rs1566351456, rs1594555106, rs1876439052, rs1594568948, rs1594566751, rs1555303073, rs1877796698, rs1878248687, rs1878142219, rs1877796592, rs1878013473, rs1876543576, rs1877701802, rs1877801384, rs1877963897, rs1877962670, rs1877889898	RCV002246309 RCV002246308 RCV002246306 RCV002246349 RCV002250761 RCV002246414 RCV002246461 RCV002246467 RCV002246469 RCV002246482 RCV004564713 RCV002246513 RCV002246527 RCV002246529 RCV002246531 RCV002246544 RCV002247500 RCV002484524 RCV002247502 RCV005006307 RCV003994375 RCV005622158 RCV002246663 RCV002246664 RCV002246665 RCV002246695 RCV002247701 RCV002247702 RCV002247704 RCV002247705 RCV002249004 RCV002286505 RCV002287285 RCV002287871 RCV002247542 RCV002247543 RCV002247544 RCV002247545 RCV002247546 RCV002247547 RCV002466316 RCV002466810 RCV002468827 RCV005010958 RCV005002854 RCV002247615 RCV000191072 RCV003148416 RCV003223539 RCV003232909 RCV003319597 RCV003333547 RCV003335817 RCV003479586 RCV005003655 RCV003493321 RCV003493328 RCV003493352 RCV003494092 RCV005013014 RCV005003746 RCV003988706 RCV005937390 RCV002247361 RCV002247362 RCV002247363 RCV002247364 RCV002247365 RCV002247366 RCV002247367 RCV002247368 RCV004555494 RCV004577206 RCV002248650 RCV003988844 RCV002283479 RCV002248658 RCV004584728 RCV002248739 RCV002248744 RCV003227850 RCV002249490 RCV002307636 RCV002249602 RCV001027681 RCV002249672 RCV006449280 RCV002271619 RCV002249683 RCV002246242 RCV002246246 RCV002246256 RCV002246257 RCV002246258 RCV004017815 RCV002246270 RCV002246276	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral calcification	Pathogenic	rs587780588	RCV001030993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Pathogenic; Likely pathogenic	rs2139149224, rs2139187274	RCV001796563 RCV001796560	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL4A1 or COL4A2-related cerebral small vessel disease	Likely pathogenic; Pathogenic	rs375477517, rs2139156247, rs2501780064	RCV003225188 RCV002471200 RCV002471731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL4A1-related disorder	Likely pathogenic; Pathogenic	rs2139154447, rs2139163058, rs1877827904, rs1879237220, rs797044867, rs797045034, rs2139165126, rs2501757578, rs2501780562, rs2501538404, rs2139162955, rs2501770978, rs113994108, rs672601347, rs1878248687, rs1876543576	RCV006270515 RCV006262003 RCV004529048 RCV004725327 RCV003335188 RCV004739575 RCV003335910 RCV004531559 RCV004529255 RCV004542630 RCV004542652 RCV004006207 RCV006249561 RCV004739722 RCV003763804 RCV004727057	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colpocephaly	Likely pathogenic; Pathogenic	rs766209938	RCV001391264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs2139163073	RCV001849677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs766209938	RCV001391264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs113994108	RCV001775002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EBV-positive nodal T- and NK-cell lymphoma	Likely pathogenic	rs112314120	RCV004560094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemorrhage, intracerebral, susceptibility to	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877827904, rs587780588, rs1436175370, rs780492563, rs1879237220, rs1879717674, rs201606177, rs2501791888, rs672601347	RCV002246414 RCV002246469 RCV005005287 RCV002484524 RCV006250119 RCV005006307 RCV005010958 RCV005002854 RCV005003655 RCV005013014 RCV005003746 RCV002502498	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intracranial hemorrhage	Pathogenic	rs587780588	RCV001030993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intraventricular hemorrhage	Pathogenic	rs587780588	RCV001391278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Irido-corneo-trabecular dysgenesis	Likely pathogenic; Pathogenic	rs766346293	RCV003389588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Likely pathogenic	rs761712661	RCV003324670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2501580028	RCV005934625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877904298, rs1877827904, rs1436175370, rs2501592907, rs780492563, rs1879237220, rs797044867, rs1879717674, rs201606177, rs2501791888, rs2501783763, rs672601347, rs1085307709, rs1876438936, rs2138415342, rs1876439052, rs1594566751	RCV002246414 RCV002246469 RCV005005287 RCV001808019 RCV002484524 RCV005006307 RCV002468829 RCV005010958 RCV005002854 RCV002283465 RCV005003655 RCV005013014 RCV005003746 RCV005937390 RCV002502498 RCV001824139 RCV000850144 RCV000850145 RCV000850146 RCV000850147 RCV001027681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Likely pathogenic	rs1877701802	RCV001375492	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2501600650	RCV005931652	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic nerve hypoplasia	Pathogenic	rs1555303073	RCV000590892	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porencephaly	Pathogenic	rs2139160399	RCV001526631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal arterial tortuosity	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877827904, rs587780588, rs1436175370, rs780492563, rs1879237220, rs1879717674, rs201606177, rs2501791888, rs267606743, rs672601347	RCV002246414 RCV002246469 RCV005005287 RCV002484524 RCV006250119 RCV005006307 RCV005010958 RCV005002854 RCV005003655 RCV005013014 RCV005003746 RCV000170340 RCV002502498	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs1363290269	RCV005926768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs2139187383	RCV002275898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs1085307816	RCV005899717	★★★★☆ 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
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment dysgenesis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXENFELD-RIEGER SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL SMALL VESSEL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ 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
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED RETINAL ARTERIAL TORTUOSITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED RETINAL ARTERIOLAR TORTUOSITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HANAC-like syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	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
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephalic cyst	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTTRAUMATIC PORENCEPHALIC CYST OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary membranoproliferative glomerulonephritis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIEGER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizencephaly	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	BEFREE	15905400, 16107487, 17379824, 19194877, 19477666, 20166936, 20558831, 20818663, 22209246, 22333902, 23065703, 23225343, 24390199, 25425218, 25719457, 26363084, 26686511, 27190376, 27916450, 31128271, 31540749, 31808207		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	23121296		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	23121296		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	38029923	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34551193, 37264161	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	24861536	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	23225343, 24861536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CTD_human_DG	23225343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired	Anemia	CTD_human_DG	23225343		★☆☆☆☆ Found in Text Mining only
Anemia, Microangiopathic	Anemia	CTD_human_DG	23225343		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	18706033		★☆☆☆☆ Found in Text Mining only
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	Pubtator	18160688, 19949034, 22522439, 25873210, 27190376, 29395486	Associate	★☆☆☆☆ Found in Text Mining only
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	UNIPROT_DG	18160688, 20818663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	ORPHANET_DG	18160688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	GENOMICS_ENGLAND_DG	18160688, 19238787, 20818663, 24357685, 27190376, 30315939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	BEFREE	19949034, 20818663, 27190376, 28056338, 28057519, 29395486, 31230195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	25425218		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24573017, 29482039		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29482039	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23737970	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24573017, 29482039		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29482039	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	21730847		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	21730847		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21730847		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28846756, 32499604	Associate	★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	BEFREE	17696175		★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	CTD_human_DG	17696175, 20385946		★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Axenfeld syndrome	Axenfeld anomaly	CTD_human_DG	17696175, 20385946		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	CTD_human_DG	17696175, 20385946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Axenfeld-Rieger Syndrome, Type 1	Axenfeld anomaly	CTD_human_DG	17696175, 20385946		★☆☆☆☆ Found in Text Mining only
AXENFELD-RIEGER SYNDROME, TYPE 3	Axenfeld anomaly	CTD_human_DG	17696175, 20385946		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28415608, 28837258		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	18706033		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	37427422	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	35150448	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17900349	Associate	★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	37427422	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	32515830	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20063114	Associate	★☆☆☆☆ Found in Text Mining only
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly	Brain Small Vessel Disease With Axenfeld-Rieger Anomaly	CTD_human_DG	16598045, 17696175		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	Brain Small Vessel Disease With Hemorrhage	CTD_human_DG	16598045, 17696175		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	Brain Small Vessel Disease With Hemorrhage	BEFREE	17379824, 20558831		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	Brain Small Vessel Disease With Hemorrhage	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	Brain Small Vessel Disease With Hemorrhage	ORPHANET_DG	23065703		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES	Brain Small Vessel Disease with or without ocular anomalies	CLINVAR_DG	16598045, 17938367, 22102590, 26633545		★☆☆☆☆ Found in Text Mining only
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES	Brain Small Vessel Disease with or without ocular anomalies	GENOMICS_ENGLAND_DG	30315939		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24383403		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27891193, 34541602, 35937944, 39529627	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	18706033, 21062344, 22868088, 25323665, 25527826		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	31230195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	31230195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	31905170, 32801999	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27545991	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31905170	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28837258		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25891208		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25457163		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25457163	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36504316	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	37157232	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28393221		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28393221, 30423812, 38459180	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24374867, 25457163, 26708157, 26879631		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25124159, 25457163, 34014271, 36161833	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	25124159	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	24628545	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	37157232	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	25425218, 30087447		★☆☆☆☆ Found in Text Mining only
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	21062344, 22868088		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	16107487, 22522439, 23065703, 27190376, 28185542, 32515830, 33247988, 35943828, 36300346	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	25873210, 33148145	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	22098125, 35076175	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Palsy	Cerebral palsy	BEFREE	26708157, 26748532		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	GENOMICS_ENGLAND_DG	17938367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	19840616, 20166936, 20558831, 22868088, 23065703, 24374867, 25653287, 27666438, 31366314, 31808207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	19840616, 19949034, 23065703, 25873210, 30859180, 31430377, 31719132, 33268848, 35307828, 36300346, 37157232	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	16598045, 17696175, 18706033, 19477666, 20166936, 22209247, 23895686, 25425218, 28043398, 29266233, 30383316, 31029817, 31808207		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354, 30383316		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	19949034, 22209247, 22522439, 24628545, 31051113		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	19949034, 22522439, 24628545, 37157232	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CTD_human_DG	20385946		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29395486		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25524550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	33268848, 35307828	Associate	★☆☆☆☆ Found in Text Mining only
COL4A1-related familial vascular leukoencephalopathy	Vascular Leukoencephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31469863	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32515830	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	25124159, 31128271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25810372		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital porencephaly	Congenital Porencephaly	BEFREE	15905400, 16107487, 17379824, 19194877, 19477666, 20166936, 20558831, 20818663, 22209246, 22333902, 23065703, 23225343, 24390199, 25425218, 25719457, 26363084, 26686511, 27190376, 27916450, 31128271, 31540749, 31808207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital porencephaly	Congenital Porencephaly	CTD_human_DG	23225343, 607595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24156251, 29299748		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21966275, 24156251, 26982883, 29299748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	21966275, 24156251, 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	28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	23727086, 27389912	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23727086, 24156251, 25810372, 27389912, 29299748		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	LHGDN	18160688		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	23225343		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	17938367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	26527064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	36982982	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36504316	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Porencephaly	Developmental Porencephaly	CTD_human_DG	23225343, 607595		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36949528	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	18682491, 27997345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25354942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	28938546		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	25524550		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12525718, 15882279, 15905400, 16107487, 16374828, 16598045, 17696175, 17938367, 18160688, 19194877, 19840616, 19949034, 21625620, 22574627, 23065703, 23394911, 26220970, 6428250		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	23895686		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	26708157		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24864020		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30413629, 36504316, 40055992	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27916450		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31485619, 36290884, 39256753	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	24628545, 25457163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fabry Disease	Fabry disease	BEFREE	22868088, 31484286		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ 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
Familial schizencephaly	Schizencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial schizencephaly	Schizencephaly	ORPHANET_DG	26576802		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Familial vascular leukoencephalopathy	Vascular Leukoencephalopathy	ORPHANET_DG	23065703		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27545991		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	16191423, 18682491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31486138		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22136065		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23737970, 38286983	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22136065		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22136065		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34565019	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24864020, 27916450		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	23121296		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	35351150	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	35306494	Associate	★☆☆☆☆ Found in Text Mining only
HANAC syndrome	HANAC Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28393221	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30423812	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	18160688	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	19949034	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia, Infantile	Hemiplegia	BEFREE	22574627		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	16107487, 19840616, 22098125, 25500781, 32515830	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	19949034, 25873210	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	16191423, 18682491		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	36504316	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	25873210	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23727086	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	28017902		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23727086		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18706033		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18706033		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33905434	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	31201347	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28846756, 35837997	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	17038484, 19506372, 24390199		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	LHGDN	18160688		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	18160688, 30087447	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	25500781, 35150448, 36504316, 37562171, 39794016	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28938546		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	20385946, 23394911, 28043398		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20558831		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	21527998		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Keratoconus	Pubtator	21527998, 32165822	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	24001601, 25228067, 27190376, 30351356		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24628545, 27190376	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	18160688	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29395486		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	28254515		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	17379824, 17696175, 22333902, 23065703, 24390199, 25323665, 27666438, 31366314		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	20385946		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	24864020		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	LHGDN	11776869		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31349698		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12716467	Inhibit	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36504316	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24383403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25891208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22253229		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29512712, 30975489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28837258		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23818951, 31069993, 31485619		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15467744, 18560403		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	18160688	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	11994000		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	22193628		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELAS Syndrome	MELAS Syndrome	BEFREE	18706033		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35943828	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	CTD_human_DG	23225343		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	35943828	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	24628545		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	24628545	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23121296		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	22574627		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21549012	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12525718, 15882279, 15905400, 16107487, 16374828, 16598045, 17696175, 17938367, 18160688, 19194877, 19840616, 19949034, 21625620, 22574627, 23065703, 23394911, 26220970, 6428250		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29563136		★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	21625620		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18077766, 25216946, 28642624, 29199230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	23727086, 27389912, 28642624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	GENOMICS_ENGLAND_DG	17938367		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21625620, 22914737, 26363084, 28056338, 31051113, 31623094, 31808207		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20083228, 22253229, 25891208, 27545991		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27990711		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	31230195		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	1281619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31230195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30413629, 35307828	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31051113		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	18682491, 27997345		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23251661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	27049236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21052871	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17900349, 27356888	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32496000	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35047055	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28185542	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	31285632		★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29395486	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	29395486	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	23121296, 30315939, 30837194		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	36504316, 37486637	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pontine autosomal dominant microangiopathy with leukoencephalopathy	Pontine Microangiopathy With Leukoencephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephaly	Porencephaly	BEFREE	15905400, 16107487, 17379824, 19194877, 19477666, 20166936, 20558831, 20818663, 22209246, 22333902, 23065703, 23225343, 24390199, 25425218, 25719457, 26363084, 26686511, 27190376, 27916450, 31128271, 31540749, 31808207		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porencephaly	Porencephaly	CTD_human_DG	23225343, 607595		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PORENCEPHALY, FAMILIAL	Porencephaly	BEFREE	16107487, 19949034, 24374867		★☆☆☆☆ Found in Text Mining only
PORENCEPHALY, FAMILIAL	Porencephaly	CTD_human_DG	23225343, 607595		★☆☆☆☆ Found in Text Mining only
PORENCEPHALY, FAMILIAL	Porencephaly	CLINVAR_DG	26633545		★☆☆☆☆ Found in Text Mining only
PORENCEPHALY, FAMILIAL	Porencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Porencephaly, Type 1, Autosomal Dominant	Porencephaly	UNIPROT_DG	15905400, 16107487, 16598045, 17379824, 17696175, 19194877, 19477666, 20385946, 22574627, 23394911, 24628545		★☆☆☆☆ Found in Text Mining only
Porencephaly, Type 1, Autosomal Dominant	Porencephaly	GENOMICS_ENGLAND_DG	17938367, 21625620, 22134833, 23225343, 24357685, 24628545, 30315939, 607595		★☆☆☆☆ Found in Text Mining only
Porencephaly, Type 1, Autosomal Dominant	Porencephaly	CTD_human_DG	23225343, 607595		★☆☆☆☆ Found in Text Mining only
Porencephaly, Type 1, Autosomal Dominant	Porencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26527064		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22253229		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29206234, 35082164	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	31341891		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	22574627		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal arterial tortuosity	Retinal arterial tortuosity	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29482039		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	CTD_human_DG	17696175, 20385946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizencephaly	Schizencephaly	BEFREE	23225343, 26879631, 30315939, 30837194, 31029817		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizencephaly	Schizencephaly	CTD_human_DG	23225343		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizencephaly	Schizencephaly	UNIPROT_DG	23225343		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizencephaly	Schizencephaly	GENOMICS_ENGLAND_DG	30315939		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizencephaly	Schizencephaly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizures	Seizures	Pubtator	25873210, 30413629	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18669583, 32015424, 34999279, 35426219	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29512712, 30975489, 31069993		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29512712	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29921304, 30804389, 32058995, 32293980, 32801999, 35297303, 36690975, 37800754, 37868053, 38041130	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32106772, 36300346, 36958462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	17216253		★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	31029817		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28837258, 33234027	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32390597	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36683048	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18160688, 19477666, 20558831, 20818663, 23225343, 25228067, 25425218, 25873210, 27190376, 28056338, 28254515, 28271496		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	31230195		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	31230195		★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	21625620, 25873210		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	21625620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	9749944		★☆☆☆☆ Found in Text Mining only