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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1291
Gene name	Collagen type VI alpha 1 chain
Gene symbol	COL6A1
Synonyms (NCBI Gene)	BTHLM1BTHLM1AOPLLUCHMD1UCHMD1A
Chromosome	21
Chromosome location	21q22.3
Summary	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structura

152

Show/Hide all (152)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9637170	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs11702055	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75180385	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs111451684	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs112104768	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs112814811	G>A,C	Likely-pathogenic	Splice acceptor variant
rs117583120	A>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121912934	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912935	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912936	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912937	C>G,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs121912938	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912939	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs137964147	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs138899581	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138976133	G>A,C,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139018148	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139148709	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139243418	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139648899	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140427635	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140478280	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs140534207	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141663473	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142102852	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143438559	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs143502850	C>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143755280	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144282452	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144358858	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144814689	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144887329	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146071423	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148630223	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149338158	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149910296	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150686304	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs182440627	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs184484842	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200023632	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs200124802	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200334019	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267606746	G>A	Pathogenic	Missense variant, coding sequence variant
rs367832752	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369502543	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369590506	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369802454	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370632963	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370780432	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371841573	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs372581026	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372931456	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373948031	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376055208	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376567898	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377213930	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377455608	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123631	G>A	Pathogenic	Splice donor variant
rs398123638	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398123639	A>G	Pathogenic	Splice acceptor variant
rs398123640	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398123643	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs398123644	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs536786554	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs540554122	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs552239546	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs573282005	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs747037863	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs749529856	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753063150	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs756141940	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs759918870	ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs759989949	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs760768642	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs762867111	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs764129993	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs764556767	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs767176038	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs768508076	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs770671793	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205555	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727028	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727060	T>C	Pathogenic	Splice donor variant
rs794727121	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044456	T>C	Pathogenic	Splice donor variant
rs797044457	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044458	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045477	A>C,G	Pathogenic	Splice acceptor variant
rs878854398	A>-	Uncertain-significance, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041383	G>A	Pathogenic	Missense variant, coding sequence variant
rs886042354	G>A,C	Pathogenic	Splice acceptor variant
rs886042391	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886042646	GG>AA	Likely-pathogenic	Missense variant, coding sequence variant
rs886042684	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886042748	G>A	Pathogenic	Splice donor variant
rs886042856	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886042902	G>A	Pathogenic	Splice donor variant
rs886043106	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs886043114	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs886043147	CATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043291	GGCTCGCCCGGGTT>-	Pathogenic	Stop gained, coding sequence variant
rs886043321	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886043330	G>A,T	Pathogenic	Splice acceptor variant
rs886043351	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs886043354	TCCGGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043521	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs886043700	G>A,T	Pathogenic	Splice donor variant
rs886044231	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs886044535	G>A	Pathogenic	Splice donor variant
rs890068806	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs940473416	A>G	Pathogenic	Splice acceptor variant
rs1002726737	G>A	Likely-pathogenic	Splice donor variant
rs1057518005	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519174	A>G	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1057520625	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1057521152	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522053	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064793840	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064797287	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1249738773	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1304888945	C>T	Pathogenic	Coding sequence variant, stop gained
rs1322590833	T>G	Pathogenic	Splice donor variant
rs1391624796	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556423703	AGACTGCC>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1556423728	C>-	Pathogenic	Stop gained, coding sequence variant
rs1556425467	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1556425468	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556425474	AGCCGGAGA>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1556425531	G>C	Pathogenic	Splice acceptor variant
rs1556425566	G>A	Pathogenic	Missense variant, coding sequence variant
rs1556425596	C>T	Pathogenic	Intron variant
rs1556425679	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556425687	GGTGAGCG>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1556425717	A>G	Likely-pathogenic	Splice acceptor variant
rs1556425832	TCCTCTTTCCAGGGGG>GGA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1556425835	A>-	Pathogenic	Splice acceptor variant
rs1556425853	G>-	Pathogenic	Splice donor variant
rs1569517717	G>A	Pathogenic	Splice donor variant
rs1569517943	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569518070	AAC>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1569518119	G>T	Pathogenic	Splice donor variant
rs1569518138	A>G	Likely-pathogenic	Intron variant
rs1569518481	T>G	Likely-pathogenic	Splice donor variant
rs1569518677	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569518725	AG>-	Likely-pathogenic	Splice acceptor variant
rs1569518771	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569519030	G>T	Likely-pathogenic	Splice acceptor variant
rs1569519109	C>T	Pathogenic	Stop gained, coding sequence variant
rs1603590637	G>A	Pathogenic	Missense variant, coding sequence variant
rs1603590641	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1603590649	G>T	Pathogenic	Missense variant, coding sequence variant
rs1603593491	->ACCG	Likely-pathogenic	Frameshift variant, coding sequence variant

473

Show/Hide all (473)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018149	hsa-miR-335-5p	Microarray	18185580
MIRT051548	hsa-let-7e-5p	CLASH	23622248
MIRT043222	hsa-miR-324-5p	CLASH	23622248
MIRT039896	hsa-miR-615-3p	CLASH	23622248
MIRT037192	hsa-miR-877-3p	CLASH	23622248
MIRT035972	hsa-miR-1301-3p	CLASH	23622248
MIRT756087	hsa-miR-202-3p	Western blottingqRT-PCR	37226011
MIRT903122	hsa-miR-23a	CLIP-seq
MIRT903123	hsa-miR-23b	CLIP-seq
MIRT903124	hsa-miR-23c	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT903128	hsa-miR-3664-5p	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT903130	hsa-miR-4714-5p	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT903135	hsa-miR-584	CLIP-seq
MIRT1547252	hsa-miR-103a	CLIP-seq
MIRT1547253	hsa-miR-107	CLIP-seq
MIRT1547254	hsa-miR-1178	CLIP-seq
MIRT1547255	hsa-miR-1226	CLIP-seq
MIRT1547256	hsa-miR-1253	CLIP-seq
MIRT1547257	hsa-miR-1286	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT1547267	hsa-miR-3144-5p	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT1547268	hsa-miR-3150b-3p	CLIP-seq
MIRT1547269	hsa-miR-3155	CLIP-seq
MIRT1547270	hsa-miR-3155b	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547272	hsa-miR-3191	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT1547275	hsa-miR-34c-3p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT1547278	hsa-miR-3664-3p	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT1547281	hsa-miR-3975	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547286	hsa-miR-4433	CLIP-seq
MIRT1547287	hsa-miR-4434	CLIP-seq
MIRT1547288	hsa-miR-4456	CLIP-seq
MIRT1547289	hsa-miR-4459	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT1547294	hsa-miR-4516	CLIP-seq
MIRT1547295	hsa-miR-4530	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547298	hsa-miR-4652-5p	CLIP-seq
MIRT1547299	hsa-miR-4654	CLIP-seq
MIRT1547300	hsa-miR-4668-5p	CLIP-seq
MIRT1547301	hsa-miR-4689	CLIP-seq
MIRT1547302	hsa-miR-4710	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547304	hsa-miR-4733-3p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT1547310	hsa-miR-4768-3p	CLIP-seq
MIRT1547311	hsa-miR-4769-5p	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547313	hsa-miR-4784	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT1547315	hsa-miR-484	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT1547317	hsa-miR-541	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547320	hsa-miR-634	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547323	hsa-miR-654-5p	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2203632	hsa-miR-4651	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT2203633	hsa-miR-491-5p	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT2203634	hsa-miR-608	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2427791	hsa-miR-1185	CLIP-seq
MIRT1547256	hsa-miR-1253	CLIP-seq
MIRT2427792	hsa-miR-1258	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT2427793	hsa-miR-1323	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT2427794	hsa-miR-148a	CLIP-seq
MIRT2427795	hsa-miR-148b	CLIP-seq
MIRT2427796	hsa-miR-152	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT903122	hsa-miR-23a	CLIP-seq
MIRT903123	hsa-miR-23b	CLIP-seq
MIRT903124	hsa-miR-23c	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT1547267	hsa-miR-3144-5p	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT1547268	hsa-miR-3150b-3p	CLIP-seq
MIRT2427799	hsa-miR-3153	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547272	hsa-miR-3191	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT1547275	hsa-miR-34c-3p	CLIP-seq
MIRT2427801	hsa-miR-3605-5p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT2427802	hsa-miR-3647-3p	CLIP-seq
MIRT903128	hsa-miR-3664-5p	CLIP-seq
MIRT2427803	hsa-miR-3675-5p	CLIP-seq
MIRT2427804	hsa-miR-3679-5p	CLIP-seq
MIRT2427805	hsa-miR-3688-5p	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT1547281	hsa-miR-3975	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2427809	hsa-miR-4291	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547287	hsa-miR-4434	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT1547294	hsa-miR-4516	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547298	hsa-miR-4652-5p	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT1547300	hsa-miR-4668-5p	CLIP-seq
MIRT2427812	hsa-miR-4675	CLIP-seq
MIRT2427813	hsa-miR-4685-5p	CLIP-seq
MIRT2427814	hsa-miR-4687-5p	CLIP-seq
MIRT1547301	hsa-miR-4689	CLIP-seq
MIRT2427815	hsa-miR-4697-3p	CLIP-seq
MIRT1547302	hsa-miR-4710	CLIP-seq
MIRT903130	hsa-miR-4714-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2427816	hsa-miR-4740-3p	CLIP-seq
MIRT2427817	hsa-miR-4741	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547313	hsa-miR-4784	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT2427819	hsa-miR-499-3p	CLIP-seq
MIRT2427820	hsa-miR-499a-3p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2427822	hsa-miR-509-3p	CLIP-seq
MIRT2427823	hsa-miR-512-3p	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT1547317	hsa-miR-541	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT2427825	hsa-miR-548a-5p	CLIP-seq
MIRT2427826	hsa-miR-548aa	CLIP-seq
MIRT2427827	hsa-miR-548ab	CLIP-seq
MIRT2427828	hsa-miR-548ac	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2427830	hsa-miR-548ak	CLIP-seq
MIRT2427831	hsa-miR-548b-5p	CLIP-seq
MIRT2427832	hsa-miR-548c-3p	CLIP-seq
MIRT2427833	hsa-miR-548c-5p	CLIP-seq
MIRT2427834	hsa-miR-548d-3p	CLIP-seq
MIRT2427835	hsa-miR-548d-5p	CLIP-seq
MIRT2427836	hsa-miR-548h	CLIP-seq
MIRT2427837	hsa-miR-548i	CLIP-seq
MIRT2427838	hsa-miR-548j	CLIP-seq
MIRT2427839	hsa-miR-548k	CLIP-seq
MIRT2427840	hsa-miR-548l	CLIP-seq
MIRT2427841	hsa-miR-548o	CLIP-seq
MIRT2427842	hsa-miR-548p	CLIP-seq
MIRT2427843	hsa-miR-548w	CLIP-seq
MIRT2427844	hsa-miR-548y	CLIP-seq
MIRT2427845	hsa-miR-548z	CLIP-seq
MIRT2427846	hsa-miR-559	CLIP-seq
MIRT903135	hsa-miR-584	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547323	hsa-miR-654-5p	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427847	hsa-miR-922	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT1547255	hsa-miR-1226	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT1547257	hsa-miR-1286	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT2436362	hsa-miR-1296	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT2427794	hsa-miR-148a	CLIP-seq
MIRT2427795	hsa-miR-148b	CLIP-seq
MIRT2427796	hsa-miR-152	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT1547278	hsa-miR-3664-3p	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427805	hsa-miR-3688-5p	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT2436371	hsa-miR-3921	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2427809	hsa-miR-4291	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547286	hsa-miR-4433	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547289	hsa-miR-4459	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2436373	hsa-miR-4512	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT1547295	hsa-miR-4530	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT2436376	hsa-miR-4653-5p	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT2427812	hsa-miR-4675	CLIP-seq
MIRT2427813	hsa-miR-4685-5p	CLIP-seq
MIRT2427814	hsa-miR-4687-5p	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2427815	hsa-miR-4697-3p	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547304	hsa-miR-4733-3p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT2436385	hsa-miR-4738-5p	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2427817	hsa-miR-4741	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547310	hsa-miR-4768-3p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT2427823	hsa-miR-512-3p	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547320	hsa-miR-634	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427847	hsa-miR-922	CLIP-seq
MIRT1547254	hsa-miR-1178	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT1547269	hsa-miR-3155	CLIP-seq
MIRT1547270	hsa-miR-3155b	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT2447450	hsa-miR-431	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547315	hsa-miR-484	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT2506692	hsa-miR-146b-3p	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT2436371	hsa-miR-3921	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT2506693	hsa-miR-4267	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT2436376	hsa-miR-4653-5p	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT2436385	hsa-miR-4738-5p	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT2506692	hsa-miR-146b-3p	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT2506693	hsa-miR-4267	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq

120

Show/Hide all (120)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001942	Process	Hair follicle development	IEA
GO:0002023	Process	Reduction of food intake in response to dietary excess	IEA
GO:0003012	Process	Muscle system process	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005518	Function	Collagen binding	IEA
GO:0005518	Function	Collagen binding	IPI	18400749
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	18400749
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005589	Component	Collagen type VI trimer	NAS	2551668
GO:0005589	Component	Collagen type VI trimer	TAS	23869615
GO:0005604	Component	Basement membrane	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006096	Process	Glycolytic process	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006103	Process	2-oxoglutarate metabolic process	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010657	Process	Muscle cell apoptotic process	IEA
GO:0014823	Process	Response to activity	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030154	Process	Cell differentiation	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030262	Process	Apoptotic nuclear changes	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030324	Process	Lung development	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032963	Process	Collagen metabolic process	IEA
GO:0032991	Component	Protein-containing complex	IPI	18400749
GO:0033993	Process	Response to lipid	IEA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0036022	Process	Limb joint morphogenesis	IEA
GO:0036293	Process	Response to decreased oxygen levels	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043588	Process	Skin development	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048630	Process	Skeletal muscle tissue growth	IEA
GO:0048741	Process	Skeletal muscle fiber development	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050954	Process	Sensory perception of mechanical stimulus	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051262	Process	Protein tetramerization	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051882	Process	Mitochondrial depolarization	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060065	Process	Uterus development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060348	Process	Bone development	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070341	Process	Fat cell proliferation	IEA
GO:0070836	Process	Caveola assembly	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071965	Process	Multicellular organismal locomotion	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:1901652	Process	Response to peptide	IEA
GO:1904026	Process	Regulation of collagen fibril organization	IEA
GO:1904583	Process	Response to polyamine macromolecule	IEA
GO:1904975	Process	Response to bleomycin	IEA
GO:1990542	Process	Mitochondrial transmembrane transport	IEA

MIM	HGNC	e!Ensembl
120220	2211	ENSG00000142156

P12109

Protein name

Collagen alpha-1(VI) chain

Protein function

Collagen VI acts as a cell-binding protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	37 → 227	von Willebrand factor type A domain	Domain
PF01391	Collagen	253 → 313	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	293 → 368	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	347 → 419	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	449 → 517	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	500 → 564	Collagen triple helix repeat (20 copies)	Repeat
PF00092	VWA	615 → 784	von Willebrand factor type A domain	Domain
PF00092	VWA	829 → 1019	von Willebrand factor type A domain	Domain

Sequence

MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVD
KVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAV
KYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIK
NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGM
KGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
EGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTK
GYPGLKGDEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDII
MKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYA
GVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPS
QGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTAL
ASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQT
VSRKVALG

Sequence length

1028

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Cytoskeleton in muscle cells Protein digestion and absorption Human papillomavirus infection		Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans NCAM1 interactions 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)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs886043330, rs398123631, rs121912939	RCV001814412 RCV001813996 RCV001814048	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy 1A	Likely pathogenic; Pathogenic	rs1603590649, rs1556425467, rs398123643, rs2123475539, rs2123484530, rs398123631, rs1330933906, rs112667801, rs2123490954, rs886042902, rs2123488904, rs2123484131, rs1422385556, rs2123472068, rs2123472064 View all (90 more)	RCV001810023 RCV001384957 RCV001390509 RCV001387069 RCV001386916 View all (117 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bethlem myopathy 1B	Pathogenic	rs886042748	RCV005641573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL6A1-related disorder	Likely pathogenic; Pathogenic	rs1330933906, rs1422385556, rs878854398, rs121912935, rs886042902, rs2526328903, rs1057519174, rs797045477	RCV004536307 RCV004734310 RCV004529013 RCV004535283 RCV004535324 RCV004536717 RCV004529570 RCV004735816 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Collagen 6-related myopathy	Pathogenic; Likely pathogenic	rs1556425468, rs121912938, rs886043351, rs398123643	RCV001795603 RCV003314554 RCV005092007 RCV001813755	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs797045477	RCV000194464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs794727060	RCV005889741 RCV005927079	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal muscle weakness	Likely pathogenic	rs2526323439	RCV002292403	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorimotor neuropathy	Likely pathogenic; Pathogenic	rs398123631	RCV000626814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ullrich congenital muscular dystrophy 1A	Pathogenic; Likely pathogenic	rs2077858751, rs2077836463, rs2077724517, rs886041383, rs886043114, rs886044535, rs1569517717, rs797044457, rs797044458, rs121912937, rs121912938, rs267606746, rs1556425596, rs1569518771, rs1569518677 View all (8 more)	RCV001730024 RCV001808900 RCV003152972 RCV005031843 RCV002250617 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT	Likely pathogenic; Pathogenic	rs121912938, rs121912939	RCV003764606 RCV003764607	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MUSCULAR DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG abnormality	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE COLLAGEN VI-RELATED MUSCULAR DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	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
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULLRICH CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (111)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	31344532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18551403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	18551403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18551403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	23040494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bethlem myopathy	Bethlem myopathy	Pubtator	10419498, 11707460, 12840783, 15689448, 16258657, 19884007, 20882040, 22075033, 22226732, 23738969, 29774307, 30808312, 31273343, 33337382, 39523858 View all (4 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bethlem myopathy	Bethlem Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	10329467, 10419498, 11932968, 15563506, 15955946, 16258657, 16278855, 17537636, 20338942, 20882040, 21496625, 21543891, 24334769, 28831785, 28984114, 30808312, 9580662 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	CLINVAR_DG	10419498, 11865138, 12840783, 15689448, 15955946, 16130093, 17785674, 17886299, 18366090, 18825676, 19344236, 19564581, 19884007, 20976770, 21280092 View all (17 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	UNIPROT_DG	11865138, 15689448, 15955946, 8782832		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	GENOMICS_ENGLAND_DG	16130093, 23738969, 25535305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Atresia	Biliary atresia	Pubtator	38041174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30353998, 34541602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25895032	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39928484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31344532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	7486833, 7909528, 8094066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy, Ullrich type	Congenital muscular dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	31246245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy epithelial basement membrane	Corneal dystrophy	Pubtator	19710953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	7909528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29027377	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	37928522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	15716609	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	17602442, 23452080, 2529205, 26571399, 7486833, 7909528, 8094066, 9491853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17602442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23040494, 23452080, 2529205, 38095646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture of hip	Flexion Contracture Of Hip	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28726551	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37434432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria	Hematuria	Pubtator	30808312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26571399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	31814062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	33261612	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37928522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31246245		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis pilaris	Keratosis pilaris	BEFREE	20882040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	37928522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	23692979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	23692979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31268154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25895032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	20225280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12011280, 12840783, 15563506, 16130093, 18366090		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	BEFREE	16278855, 19519726, 30895940		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	CTD_human_DG	20716577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	12374585, 18378883		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	BEFREE	16278855, 19019314, 20338942, 23437220, 28043812, 28831785, 28984114, 29752552, 30890563		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myosclerosis	Myosclerosis	BEFREE	22226732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25895032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21775118		★★★★★ ★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	31291973, 31831033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32878513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31268154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31268154, 36546396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25895032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25895032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28204927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	33337382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	28182637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	23221806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29027377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	12840783, 15127309, 15563506, 15955946, 16075202, 16130093, 16258657, 16278855, 17537636, 17785674, 18366090, 18378883, 19293339, 19884007, 20338942 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	UNIPROT_DG	15689448, 16130093, 17785674		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	16130093, 23738969, 25535305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	ORPHANET_DG	18366090		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	CLINVAR_DG	24038877		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT	Ullrich Congenital Muscular Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30689556, 36357874, 36474424, 38197756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36768853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COL6A1 (collagen type VI alpha 1 chain)