Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1290
Gene name	Collagen type V alpha 2 chain
Gene symbol	COL5A2
Synonyms (NCBI Gene)	EDSCEDSCL2
Chromosome	2
Chromosome location	2q32.2
Summary	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appea

42 Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912930	C>G	Pathogenic	Coding sequence variant, missense variant
rs139189200	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139656817	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs140609193	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs140952583	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145258293	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145404046	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147420365	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151187317	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199530997	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367643805	T>A,C	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs369733690	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs372227642	A>G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs376612765	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs549894501	T>C	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs562950263	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs563606558	T>C	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, initiator codon variant
rs747946828	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs770598613	C>G	Likely-pathogenic	Splice donor variant
rs770974455	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205103	GCTCCCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs786205104	C>A	Pathogenic	Splice donor variant
rs863223491	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs863223501	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs878853978	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs886039694	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1040238147	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057524163	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553512393	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553513657	C>T	Likely-pathogenic	Splice donor variant
rs1553513971	T>C	Pathogenic	Splice acceptor variant
rs1553514506	A>-	Pathogenic	Splice donor variant
rs1553514799	C>T	Likely-pathogenic	Intron variant
rs1553515517	T>C	Pathogenic	Intron variant
rs1553515794	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1553517181	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553517323	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1559085564	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559085578	G>C	Pathogenic	Intron variant
rs1559104199	C>A	Likely-pathogenic	Splice donor variant
rs1576502045	C>T	Likely-pathogenic	Splice donor variant
rs1576517517	C>A	Pathogenic	Intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030666	hsa-miR-21-5p	Microarray	18591254
MIRT046753	hsa-miR-222-3p	CLASH	23622248
MIRT053646	hsa-miR-143-3p	Microarray	22942087
MIRT437545	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT437552	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT437558	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437566	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437552	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT437552	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT734990	hsa-let-7e-3p	qRT-PCR	33066614
MIRT756330	hsa-miR-1286	Luciferase reporter assayWestern blottingqRT-PCR	34766472
MIRT903060	hsa-miR-1323	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT903064	hsa-miR-2682	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT903070	hsa-miR-342-3p	CLIP-seq
MIRT903071	hsa-miR-34a	CLIP-seq
MIRT903072	hsa-miR-34c-5p	CLIP-seq
MIRT903073	hsa-miR-377	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT903076	hsa-miR-4423-5p	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT903078	hsa-miR-4477b	CLIP-seq
MIRT903079	hsa-miR-449a	CLIP-seq
MIRT903080	hsa-miR-449b	CLIP-seq
MIRT903081	hsa-miR-449c	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT903083	hsa-miR-4511	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT903085	hsa-miR-4643	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT903095	hsa-miR-548b-3p	CLIP-seq
MIRT903096	hsa-miR-548o	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547223	hsa-miR-300	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT1547232	hsa-miR-381	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT1547239	hsa-miR-4666-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547245	hsa-miR-4728-3p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1967778	hsa-miR-3907	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT1967780	hsa-miR-4790-3p	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT1967782	hsa-miR-876-3p	CLIP-seq
MIRT2203612	hsa-miR-1272	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT2203613	hsa-miR-4528	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT2203614	hsa-miR-4659a-3p	CLIP-seq
MIRT2203615	hsa-miR-4659b-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2427677	hsa-let-7a	CLIP-seq
MIRT2427678	hsa-let-7b	CLIP-seq
MIRT2427679	hsa-let-7c	CLIP-seq
MIRT2427680	hsa-let-7d	CLIP-seq
MIRT2427681	hsa-let-7e	CLIP-seq
MIRT2427682	hsa-let-7f	CLIP-seq
MIRT2427683	hsa-let-7g	CLIP-seq
MIRT2427684	hsa-let-7i	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427691	hsa-miR-1252	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT756330	hsa-miR-1286	CLIP-seq
MIRT2427692	hsa-miR-129-3p	CLIP-seq
MIRT2427693	hsa-miR-1303	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427695	hsa-miR-143	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427697	hsa-miR-202	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427699	hsa-miR-23a	CLIP-seq
MIRT2427700	hsa-miR-23b	CLIP-seq
MIRT2427701	hsa-miR-23c	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT1547223	hsa-miR-300	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT2427706	hsa-miR-3168	CLIP-seq
MIRT1547226	hsa-miR-3173-3p	CLIP-seq
MIRT2427707	hsa-miR-3173-5p	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT2427710	hsa-miR-3189-3p	CLIP-seq
MIRT2427711	hsa-miR-3190	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT2427713	hsa-miR-337-3p	CLIP-seq
MIRT2427714	hsa-miR-33a	CLIP-seq
MIRT2427715	hsa-miR-33b	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547229	hsa-miR-3667-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT2427722	hsa-miR-3685	CLIP-seq
MIRT2427723	hsa-miR-369-3p	CLIP-seq
MIRT1547232	hsa-miR-381	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT2427725	hsa-miR-384	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427727	hsa-miR-3925-3p	CLIP-seq
MIRT2427728	hsa-miR-3926	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427730	hsa-miR-3973	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT1547233	hsa-miR-4269	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT1547236	hsa-miR-4428	CLIP-seq
MIRT2427738	hsa-miR-4458	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2427740	hsa-miR-4476	CLIP-seq
MIRT903078	hsa-miR-4477b	CLIP-seq
MIRT2427741	hsa-miR-4491	CLIP-seq
MIRT2427742	hsa-miR-4500	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427743	hsa-miR-450b-5p	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT2427744	hsa-miR-4520a-3p	CLIP-seq
MIRT2427745	hsa-miR-4520b-3p	CLIP-seq
MIRT2203613	hsa-miR-4528	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT1547238	hsa-miR-4645-5p	CLIP-seq
MIRT2427746	hsa-miR-4657	CLIP-seq
MIRT2203614	hsa-miR-4659a-3p	CLIP-seq
MIRT2203615	hsa-miR-4659b-3p	CLIP-seq
MIRT1547239	hsa-miR-4666-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547240	hsa-miR-4673	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2427748	hsa-miR-4687-5p	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT1547243	hsa-miR-4695-5p	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT1547244	hsa-miR-4722-5p	CLIP-seq
MIRT1547245	hsa-miR-4728-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT2427752	hsa-miR-4753-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT2427754	hsa-miR-4770	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT2427756	hsa-miR-4778-3p	CLIP-seq
MIRT2427757	hsa-miR-4778-5p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427758	hsa-miR-507	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427765	hsa-miR-520g	CLIP-seq
MIRT2427766	hsa-miR-520h	CLIP-seq
MIRT2427767	hsa-miR-522	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427772	hsa-miR-548l	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT2427774	hsa-miR-557	CLIP-seq
MIRT2427775	hsa-miR-561	CLIP-seq
MIRT2427776	hsa-miR-578	CLIP-seq
MIRT2427777	hsa-miR-581	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2427780	hsa-miR-7	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT2427782	hsa-miR-766	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT2427783	hsa-miR-944	CLIP-seq
MIRT2427784	hsa-miR-98	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427677	hsa-let-7a	CLIP-seq
MIRT2427678	hsa-let-7b	CLIP-seq
MIRT2427679	hsa-let-7c	CLIP-seq
MIRT2427680	hsa-let-7d	CLIP-seq
MIRT2427681	hsa-let-7e	CLIP-seq
MIRT2427682	hsa-let-7f	CLIP-seq
MIRT2427683	hsa-let-7g	CLIP-seq
MIRT2427684	hsa-let-7i	CLIP-seq
MIRT1967776	hsa-miR-1257	CLIP-seq
MIRT1547215	hsa-miR-1266	CLIP-seq
MIRT2427692	hsa-miR-129-3p	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT2427699	hsa-miR-23a	CLIP-seq
MIRT2427700	hsa-miR-23b	CLIP-seq
MIRT2427701	hsa-miR-23c	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT903067	hsa-miR-3147	CLIP-seq
MIRT1547224	hsa-miR-3148	CLIP-seq
MIRT1547225	hsa-miR-3157-5p	CLIP-seq
MIRT2427707	hsa-miR-3173-5p	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT1547227	hsa-miR-335	CLIP-seq
MIRT2427713	hsa-miR-337-3p	CLIP-seq
MIRT1967777	hsa-miR-3611	CLIP-seq
MIRT1547228	hsa-miR-3664-3p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT1547231	hsa-miR-3682-5p	CLIP-seq
MIRT2427722	hsa-miR-3685	CLIP-seq
MIRT2427723	hsa-miR-369-3p	CLIP-seq
MIRT2427725	hsa-miR-384	CLIP-seq
MIRT1967778	hsa-miR-3907	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427727	hsa-miR-3925-3p	CLIP-seq
MIRT2427728	hsa-miR-3926	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427730	hsa-miR-3973	CLIP-seq
MIRT903075	hsa-miR-409-3p	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT903077	hsa-miR-4425	CLIP-seq
MIRT2427738	hsa-miR-4458	CLIP-seq
MIRT2427742	hsa-miR-4500	CLIP-seq
MIRT1547237	hsa-miR-4518	CLIP-seq
MIRT903084	hsa-miR-4639-5p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2427748	hsa-miR-4687-5p	CLIP-seq
MIRT1547242	hsa-miR-4691-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT2427752	hsa-miR-4753-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT903090	hsa-miR-4781-3p	CLIP-seq
MIRT1967780	hsa-miR-4790-3p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427765	hsa-miR-520g	CLIP-seq
MIRT2427766	hsa-miR-520h	CLIP-seq
MIRT2427767	hsa-miR-522	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT2427776	hsa-miR-578	CLIP-seq
MIRT2427777	hsa-miR-581	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2427782	hsa-miR-766	CLIP-seq
MIRT1967782	hsa-miR-876-3p	CLIP-seq
MIRT1547250	hsa-miR-885-5p	CLIP-seq
MIRT2427784	hsa-miR-98	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2506663	hsa-miR-1185	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT2506664	hsa-miR-1224-5p	CLIP-seq
MIRT2506665	hsa-miR-1238	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT2506666	hsa-miR-3144-5p	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT2506667	hsa-miR-3605-5p	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2506668	hsa-miR-3617	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT2506669	hsa-miR-3679-5p	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2506670	hsa-miR-3915	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT2506671	hsa-miR-4252	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2506672	hsa-miR-4279	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT2506673	hsa-miR-4286	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT2506674	hsa-miR-4427	CLIP-seq
MIRT2506675	hsa-miR-4457	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2506676	hsa-miR-4503	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2506677	hsa-miR-4689	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT2506678	hsa-miR-4722-3p	CLIP-seq
MIRT2506679	hsa-miR-4731-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2506680	hsa-miR-4801	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2506681	hsa-miR-548a-3p	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2506682	hsa-miR-548e	CLIP-seq
MIRT2506683	hsa-miR-548f	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2506684	hsa-miR-641	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq
MIRT2427685	hsa-miR-1	CLIP-seq
MIRT2427686	hsa-miR-101	CLIP-seq
MIRT2427687	hsa-miR-105	CLIP-seq
MIRT2427688	hsa-miR-1179	CLIP-seq
MIRT2427689	hsa-miR-1184	CLIP-seq
MIRT2506663	hsa-miR-1185	CLIP-seq
MIRT2427690	hsa-miR-1193	CLIP-seq
MIRT2506664	hsa-miR-1224-5p	CLIP-seq
MIRT2506665	hsa-miR-1238	CLIP-seq
MIRT1547214	hsa-miR-1245	CLIP-seq
MIRT2427694	hsa-miR-1305	CLIP-seq
MIRT1547216	hsa-miR-132	CLIP-seq
MIRT903061	hsa-miR-135a	CLIP-seq
MIRT903062	hsa-miR-135b	CLIP-seq
MIRT2427696	hsa-miR-144	CLIP-seq
MIRT2427698	hsa-miR-206	CLIP-seq
MIRT1547217	hsa-miR-208a	CLIP-seq
MIRT1547218	hsa-miR-208b	CLIP-seq
MIRT1547219	hsa-miR-212	CLIP-seq
MIRT903063	hsa-miR-2276	CLIP-seq
MIRT2427702	hsa-miR-2467-3p	CLIP-seq
MIRT903065	hsa-miR-297	CLIP-seq
MIRT1547220	hsa-miR-29a	CLIP-seq
MIRT1547221	hsa-miR-29b	CLIP-seq
MIRT1547222	hsa-miR-29c	CLIP-seq
MIRT2427703	hsa-miR-3065-5p	CLIP-seq
MIRT2427704	hsa-miR-3121-3p	CLIP-seq
MIRT903066	hsa-miR-3122	CLIP-seq
MIRT2427705	hsa-miR-3125	CLIP-seq
MIRT2506666	hsa-miR-3144-5p	CLIP-seq
MIRT903068	hsa-miR-3149	CLIP-seq
MIRT2427708	hsa-miR-3180-5p	CLIP-seq
MIRT2427709	hsa-miR-3185	CLIP-seq
MIRT903069	hsa-miR-323-5p	CLIP-seq
MIRT2427712	hsa-miR-330-3p	CLIP-seq
MIRT2506667	hsa-miR-3605-5p	CLIP-seq
MIRT2427716	hsa-miR-3613-5p	CLIP-seq
MIRT2506668	hsa-miR-3617	CLIP-seq
MIRT2427717	hsa-miR-3649	CLIP-seq
MIRT2427718	hsa-miR-3653	CLIP-seq
MIRT2427719	hsa-miR-3658	CLIP-seq
MIRT2427720	hsa-miR-3663-5p	CLIP-seq
MIRT1547230	hsa-miR-3673	CLIP-seq
MIRT2427721	hsa-miR-3678-3p	CLIP-seq
MIRT2506669	hsa-miR-3679-5p	CLIP-seq
MIRT2427724	hsa-miR-382	CLIP-seq
MIRT903074	hsa-miR-3913-5p	CLIP-seq
MIRT2506670	hsa-miR-3915	CLIP-seq
MIRT2427726	hsa-miR-3916	CLIP-seq
MIRT2427729	hsa-miR-3928	CLIP-seq
MIRT1556193	hsa-miR-3942-3p	CLIP-seq
MIRT2427731	hsa-miR-425	CLIP-seq
MIRT2506671	hsa-miR-4252	CLIP-seq
MIRT2427732	hsa-miR-4272	CLIP-seq
MIRT2427733	hsa-miR-4275	CLIP-seq
MIRT2506672	hsa-miR-4279	CLIP-seq
MIRT2427734	hsa-miR-4281	CLIP-seq
MIRT2506673	hsa-miR-4286	CLIP-seq
MIRT1967779	hsa-miR-4289	CLIP-seq
MIRT1547234	hsa-miR-4307	CLIP-seq
MIRT1547235	hsa-miR-432	CLIP-seq
MIRT2427735	hsa-miR-4328	CLIP-seq
MIRT2427736	hsa-miR-4418	CLIP-seq
MIRT2427737	hsa-miR-4422	CLIP-seq
MIRT2506674	hsa-miR-4427	CLIP-seq
MIRT2506675	hsa-miR-4457	CLIP-seq
MIRT2427739	hsa-miR-4474-3p	CLIP-seq
MIRT2506676	hsa-miR-4503	CLIP-seq
MIRT903082	hsa-miR-450b-3p	CLIP-seq
MIRT2427747	hsa-miR-4666-5p	CLIP-seq
MIRT903086	hsa-miR-4668-3p	CLIP-seq
MIRT1547241	hsa-miR-4681	CLIP-seq
MIRT2506677	hsa-miR-4689	CLIP-seq
MIRT2427749	hsa-miR-4705	CLIP-seq
MIRT2427750	hsa-miR-4709-3p	CLIP-seq
MIRT903087	hsa-miR-4712-3p	CLIP-seq
MIRT903088	hsa-miR-4719	CLIP-seq
MIRT2506678	hsa-miR-4722-3p	CLIP-seq
MIRT2506679	hsa-miR-4731-3p	CLIP-seq
MIRT2427751	hsa-miR-4735-5p	CLIP-seq
MIRT1547246	hsa-miR-4755-3p	CLIP-seq
MIRT2427753	hsa-miR-4756-3p	CLIP-seq
MIRT903089	hsa-miR-4772-3p	CLIP-seq
MIRT2427755	hsa-miR-4775	CLIP-seq
MIRT2203616	hsa-miR-4777-5p	CLIP-seq
MIRT2506680	hsa-miR-4801	CLIP-seq
MIRT1547247	hsa-miR-499-5p	CLIP-seq
MIRT2427759	hsa-miR-508-3p	CLIP-seq
MIRT2427760	hsa-miR-509-3-5p	CLIP-seq
MIRT2427761	hsa-miR-509-5p	CLIP-seq
MIRT1547248	hsa-miR-5096	CLIP-seq
MIRT903091	hsa-miR-511	CLIP-seq
MIRT1547249	hsa-miR-513b	CLIP-seq
MIRT2427762	hsa-miR-517b	CLIP-seq
MIRT903092	hsa-miR-518a-5p	CLIP-seq
MIRT2203617	hsa-miR-518d-5p	CLIP-seq
MIRT2203618	hsa-miR-519b-5p	CLIP-seq
MIRT2203619	hsa-miR-519c-5p	CLIP-seq
MIRT2427763	hsa-miR-520a-5p	CLIP-seq
MIRT2203620	hsa-miR-520c-5p	CLIP-seq
MIRT2427764	hsa-miR-520d-5p	CLIP-seq
MIRT2427768	hsa-miR-524-5p	CLIP-seq
MIRT2427769	hsa-miR-525-5p	CLIP-seq
MIRT2203621	hsa-miR-526a	CLIP-seq
MIRT903093	hsa-miR-527	CLIP-seq
MIRT2427770	hsa-miR-539	CLIP-seq
MIRT903094	hsa-miR-544	CLIP-seq
MIRT2506681	hsa-miR-548a-3p	CLIP-seq
MIRT2203622	hsa-miR-548c-3p	CLIP-seq
MIRT2506682	hsa-miR-548e	CLIP-seq
MIRT2506683	hsa-miR-548f	CLIP-seq
MIRT2427771	hsa-miR-548g	CLIP-seq
MIRT2427773	hsa-miR-548p	CLIP-seq
MIRT903097	hsa-miR-586	CLIP-seq
MIRT903098	hsa-miR-590-3p	CLIP-seq
MIRT2427778	hsa-miR-601	CLIP-seq
MIRT2427779	hsa-miR-613	CLIP-seq
MIRT1967781	hsa-miR-616	CLIP-seq
MIRT2506684	hsa-miR-641	CLIP-seq
MIRT2427781	hsa-miR-760	CLIP-seq
MIRT903099	hsa-miR-769-3p	CLIP-seq

33 Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005588	Component	Collagen type V trimer	IBA
GO:0005588	Component	Collagen type V trimer	IMP	9425231, 9783710
GO:0005588	Component	Collagen type V trimer	NAS	37158802
GO:0005592	Component	Collagen type XI trimer	NAS	17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
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	RCA	25037231, 27068509, 27559042, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	9425231
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030199	Process	Collagen fibril organization	NAS	37158802
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	17666000
GO:0043588	Process	Skin development	IBA
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	IMP	9425231
GO:0043588	Process	Skin development	ISS
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048592	Process	Eye morphogenesis	IMP	16431952
GO:0048731	Process	System development	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:1903225	Process	Negative regulation of endodermal cell differentiation	IDA	23154389

MIM	HGNC	e!Ensembl
120190	2210	ENSG00000204262

P05997

Protein name

Collagen alpha-2(V) chain

Protein function

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00093	VWC	41 → 96	von Willebrand factor type C domain	Family
PF01391	Collagen	125 → 187	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1170 → 1232	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	209 → 272	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1110 → 1180	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	834 → 904	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1264 → 1498	Fibrillar collagen C-terminal domain	Family

Sequence

MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV

Sequence length

1499

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Cytoskeleton in muscle cells	Collagen degradation
Protein digestion and absorption	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Signaling by PDGF
	Assembly of collagen fibrils and other multimeric structures
	Integrin cell surface interactions
	Non-integrin membrane-ECM interactions
	ECM proteoglycans
	NCAM1 interactions
	MET activates PTK2 signaling
	Collagen chain trimerization

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (11)
COL5A2-related disorder	Likely pathogenic	rs2469306058	RCV003404181	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic	rs2469261124	RCV003327323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, classic type	Pathogenic; Likely pathogenic	rs863223491, rs786205103, rs786205104, rs121912930, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1685782021, rs1686209873	RCV000549387 RCV000018736 RCV000018737 RCV000018738 RCV000609676 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type, 1	Pathogenic; Likely pathogenic	rs2105686869, rs2105632746, rs2105686874, rs2105579086, rs2469307907, rs1686383386, rs2469246822, rs863223491, rs2469314500, rs2469306279, rs2469294833, rs2469279533, rs2469259225, rs754843093, rs121912930 View all (8 more)	RCV001994802 RCV001993203 RCV001962944 RCV002040312 RCV002815538 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type, 2	Likely pathogenic; Pathogenic	rs1685785467, rs2105712615, rs2469263634, rs2469295166, rs2469321920, rs863223491, rs1685923198, rs786205104, rs2469314500, rs2153506167, rs2469239891, rs1553517323, rs1559104199, rs1685586746	RCV001329849 RCV001780832 RCV002306231 RCV002471616 RCV002512476 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperextensible skin	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joint hypermobility	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Likely pathogenic	rs1559070958	RCV003324669	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathic spinal arthropathy	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs863223491	RCV005892429	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telecanthus	Likely pathogenic; Pathogenic	rs1553517323	RCV000626682	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (44)
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL EHLERS-DANLOS SYNDROME	—	Orphanet	15580559, 22696272	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disproportionate tall stature	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 2	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 7A	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, arthrochalasia type	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aortopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	33888516	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	26396155	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	26227905	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (120)
Aneurysm	Aneurysm	Pubtator	26918470, 31538843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28734943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	20648054, 28855619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34766472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35964930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	GENOMICS_ENGLAND_DG	9425231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29517678, 30697528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	9425231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31888563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34541602, 35741056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33035117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29517678, 30697528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384, 33221741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27164935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22718308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23574622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Ehlers-Danlos syndrome	Classical-Like Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	28742206, 31612481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11375892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31500382, 32356618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	35964930	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constipation	Constipation	Pubtator	35964930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20617897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	35964930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	28734943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	15580559, 16431952, 18972565, 20847697, 21611149, 22696272, 23574622, 25987251, 31517854, 8923000, 9425231, 9783710		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome classic type	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	9425231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 1	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	9425231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	9425231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	BEFREE	9783710		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	Ehlers-Danlos Syndrome	ORPHANET_DG	15580559, 22696272		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	23587214		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	28868310, 29543232, 9425231		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	19344236, 22696272, 23587214, 7695699, 8218237		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	25987251		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	UNIPROT_DG	27656288, 9425231, 9783710		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23167388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36238478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	28058586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28453375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis type 4	Hemochromatosis	Pubtator	20648054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33161638, 35964930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	33161638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37731513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29517678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37798725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35964930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32873329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26918470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	28715450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31888563	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37800754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31706267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28078605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29517678, 30697528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11375892, 29517678, 30800594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36901697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	14557872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	GENOMICS_ENGLAND_DG	28868310, 29543232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	23574622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29049183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	23574622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29517678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23167388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22718308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25551281, 31969186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31706267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	26227905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	Pubtator	33828526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37008945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37731513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	33834621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shagreen patch	Shagreen patch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34999279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30972812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28078605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28058586, 28078605, 28560594, 30948703, 32058995, 32908877, 33178362, 33607786, 34281542, 34899080, 35328635, 36447214, 37082997, 37312060, 37800754, 38041130 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33381592, 37723519, 38129820	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28402931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29517678, 33035117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37988196	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertebral Artery Dissection	Vertebral Artery Dissection	LHGDN	11940702		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL5A1	9	["Thrombocytopenia","Ehlers-danlos syndrome","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Keratoconus","Loeys-dietz syndrome","Marfan syndrome","Neuropathic spinal arthropathy","ehlers-danlos syndrome, classic type"]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	15	["GenCC (Ehlers-danlos syndrome)","Orphanet (Ehlers-danlos syndrome)","Disgenet (Ehlers-danlos syndrome)","ClinGen (Ehlers-danlos syndrome)","GWAS catalog (Ehlers-danlos syndrome)","Disgenet (Connective tissue disease)","CTD (Ehlers-danlos syndrome)","ClinVar (Ehlers-danlos syndrome)","HPO (Ehlers-danlos syndrome)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","Disgenet (Loeys-dietz syndrome)","Disgenet (Marfan syndrome)"]
COL3A1	6	["Ehlers-danlos syndrome","Liver cirrhosis","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Loeys-dietz syndrome","Marfan syndrome"]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	13	["GenCC (Ehlers-danlos syndrome)","Disgenet (Ehlers-danlos syndrome)","ClinGen (Ehlers-danlos syndrome)","GWAS catalog (Ehlers-danlos syndrome)","Disgenet (Connective tissue disease)","CTD (Ehlers-danlos syndrome)","ClinVar (Ehlers-danlos syndrome)","HPO (Ehlers-danlos syndrome)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","Disgenet (Loeys-dietz syndrome)"]
COL5A3	1	["Keratoconus"]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	1	["Disgenet (Keratoconus)"]
COL1A1	7	["Ehlers-danlos syndrome","Liver cirrhosis","Osteogenesis imperfecta","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Keratoconus","Marfan syndrome"]	11	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization"]	13	["Orphanet (Ehlers-danlos syndrome)","Disgenet (Ehlers-danlos syndrome)","ClinGen (Ehlers-danlos syndrome)","GWAS catalog (Ehlers-danlos syndrome)","Disgenet (Connective tissue disease)","CTD (Ehlers-danlos syndrome)","ClinVar (Ehlers-danlos syndrome)","HPO (Ehlers-danlos syndrome)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","Disgenet (Keratoconus)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)"]
COL1A2	4	["Ehlers-danlos syndrome","Liver cirrhosis","Osteogenesis imperfecta","Connective tissue disease"]	11	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization"]	11	["Orphanet (Ehlers-danlos syndrome)","Disgenet (Ehlers-danlos syndrome)","ClinGen (Ehlers-danlos syndrome)","GWAS catalog (Ehlers-danlos syndrome)","Disgenet (Connective tissue disease)","CTD (Ehlers-danlos syndrome)","ClinVar (Ehlers-danlos syndrome)","HPO (Ehlers-danlos syndrome)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","Disgenet (Osteogenesis imperfecta)"]

COL5A2 (collagen type V alpha 2 chain)

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