COL6A2 (collagen type VI alpha 2 chain)

Gene

• Entrez ID: 1292
• Gene name: Collagen type VI alpha 2 chain
• Gene symbol: COL6A2
• Synonyms (NCBI Gene): BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been sh

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35887009	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs61735828	G>A,C	Likely-benign, uncertain-significance, benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs61735832	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs61735833	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs75581470	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs111341650	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs113002150	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs113525292	T>C,G	Pathogenic	Splice donor variant
rs113828929	G>A,C	Pathogenic	Splice donor variant
rs117725825	C>G,T	Pathogenic, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121912940	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121912942	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs138371054	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs138674440	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs138948335	G>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs139552940	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs139571947	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs140404854	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140419176	C>A,G,T	Benign-likely-benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs140790797	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140890046	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140929054	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs141021828	G>A,C,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs141233891	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs141257132	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs142021066	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs142709940	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs143338050	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs143569686	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs143583433	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs143749884	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs144334894	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs144475977	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145352569	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145500808	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs145785230	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs146311719	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146323303	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146420786	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs147199350	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148178994	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148249892	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148423929	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149077114	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149480738	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149845431	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs150098077	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150168522	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs150253422	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs150716220	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs150877061	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs192476178	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs199499499	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs199501232	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs199513044	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199929757	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200585528	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200710788	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200797233	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201426778	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201635208	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs201854898	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs201879417	C>A,G,T	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202094835	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267606747	T>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs267606748	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs267606749	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs267606750	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs367658663	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs368725753	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs369756029	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs370008311	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373072443	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs373369963	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373635709	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs373813975	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs374336669	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs374669775	C>A,T	Pathogenic, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs374673302	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs374795477	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs375288629	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376378709	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376880198	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377195134	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs377476546	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs387906607	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906608	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs387906609	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906610	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs397515333	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398122821	TCATCG>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs398123645	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs398123646	G>A	Pathogenic	Splice acceptor variant
rs531713008	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs531816975	C>G,T	Likely-pathogenic, likely-benign	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs535007570	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs547648292	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs563505047	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs566966690	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs578127995	A>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs727502827	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727502828	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727502832	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727503883	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs746012569	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs747734639	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs747900252	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Intron variant
rs748035948	G>A,T	Pathogenic	Intron variant, splice acceptor variant
rs748047522	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs748215430	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs749593004	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs749974929	A>G	Pathogenic	Splice acceptor variant
rs750444649	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs750842859	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs751192681	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751409618	G>A,C	Pathogenic	Splice acceptor variant
rs751987553	C>A,T	Likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs752730608	A>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs755147431	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs759388890	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs762583937	CAGTGC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs764014106	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs765430501	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs766157503	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs766840536	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs768836349	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs770842374	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs773143298	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs773686174	C>G,T	Pathogenic-likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs774521989	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs774805224	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs778129335	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786205642	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727061	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727419	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727715	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794727788	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727855	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045478	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863224861	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854362	G>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs886039905	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041439	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041447	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042332	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886042541	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042705	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042745	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886042943	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043164	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043187	G>A,C	Pathogenic	Splice donor variant
rs886043270	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043323	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043554	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886044023	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886044088	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886044140	T>-	Pathogenic	Splice donor variant
rs886044215	G>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs886044261	G>A,C	Pathogenic	Splice donor variant
rs886044265	G>A	Likely-pathogenic	Splice acceptor variant
rs886044398	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886044399	A>G	Pathogenic	Splice acceptor variant
rs886044466	A>C	Pathogenic	Splice acceptor variant
rs886044484	CTTTCTTCCA>-	Pathogenic	Intron variant, splice acceptor variant
rs886044526	G>A	Pathogenic	Splice donor variant
rs1012567148	G>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057517988	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs1057518925	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1057520717	G>A	Pathogenic	Splice donor variant
rs1064793394	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1064795685	CG>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1331260332	G>A	Pathogenic	Splice acceptor variant
rs1375040481	ACGAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1413628703	->CA	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1427750922	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1487638242	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555871390	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555872143	GTTTCAGTGCT>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555872200	CAGAAGGTAAGA>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1555872819	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555872873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555872965	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs1555873084	A>G	Pathogenic	Splice acceptor variant
rs1555873353	CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT>-	Likely-pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555873356	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555873358	G>T	Pathogenic	Splice acceptor variant
rs1555873507	G>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555873508	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555873698	->AAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGG	Likely-pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555877252	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555877258	->CTGGCCCGGAGGGACG	Conflicting-interpretations-of-pathogenicity	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555877282	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1568928804	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1568929639	CAG>AA	Likely-pathogenic	Intron variant, splice acceptor variant
rs1568930426	GA>TT	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1568931397	A>G	Pathogenic	Intron variant
rs1601221868	G>C	Pathogenic	Splice acceptor variant
rs1601231322	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1601232289	A>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022605	hsa-miR-124-3p	Microarray	18668037
MIRT047536	hsa-miR-10a-5p	CLASH	23622248
MIRT047410	hsa-miR-10b-5p	CLASH	23622248
MIRT052889	hsa-miR-3928-3p	CLASH	23622248
MIRT054732	hsa-miR-29c-3p	Microarray, qRT-PCR	24590289
MIRT733135	hsa-miR-184	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32581558
MIRT756088	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT903136	hsa-miR-185	CLIP-seq
MIRT903137	hsa-miR-28-5p	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT903139	hsa-miR-3139	CLIP-seq
MIRT903140	hsa-miR-3689a-3p	CLIP-seq
MIRT903141	hsa-miR-3689c	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT903146	hsa-miR-708	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT903148	hsa-miR-3150b-3p	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT903149	hsa-miR-4784	CLIP-seq
MIRT903150	hsa-miR-7	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT1547326	hsa-miR-1915	CLIP-seq
MIRT903137	hsa-miR-28-5p	CLIP-seq
MIRT1547327	hsa-miR-3127-5p	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT903139	hsa-miR-3139	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT903140	hsa-miR-3689a-3p	CLIP-seq
MIRT903141	hsa-miR-3689c	CLIP-seq
MIRT1547329	hsa-miR-3918	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT1547330	hsa-miR-4685-5p	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT903146	hsa-miR-708	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT1967787	hsa-miR-3663-3p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2203635	hsa-miR-1183	CLIP-seq
MIRT2203636	hsa-miR-1225-3p	CLIP-seq
MIRT2203637	hsa-miR-3137	CLIP-seq
MIRT2203638	hsa-miR-3169	CLIP-seq
MIRT2203639	hsa-miR-3202	CLIP-seq
MIRT2203640	hsa-miR-331-3p	CLIP-seq
MIRT2203641	hsa-miR-4308	CLIP-seq
MIRT2203642	hsa-miR-4533	CLIP-seq
MIRT2386348	hsa-miR-4747-5p	CLIP-seq
MIRT2427848	hsa-miR-1205	CLIP-seq
MIRT2427849	hsa-miR-1266	CLIP-seq
MIRT2427850	hsa-miR-1909	CLIP-seq
MIRT2427851	hsa-miR-29a	CLIP-seq
MIRT2427852	hsa-miR-29b	CLIP-seq
MIRT2427853	hsa-miR-29c	CLIP-seq
MIRT1547327	hsa-miR-3127-5p	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT2427854	hsa-miR-3189-3p	CLIP-seq
MIRT2427855	hsa-miR-3649	CLIP-seq
MIRT2427856	hsa-miR-3670	CLIP-seq
MIRT1547329	hsa-miR-3918	CLIP-seq
MIRT2427857	hsa-miR-4284	CLIP-seq
MIRT2427858	hsa-miR-4417	CLIP-seq
MIRT2427859	hsa-miR-4433	CLIP-seq
MIRT2427860	hsa-miR-4437	CLIP-seq
MIRT2427861	hsa-miR-4459	CLIP-seq
MIRT2427862	hsa-miR-450b-3p	CLIP-seq
MIRT2427863	hsa-miR-4518	CLIP-seq
MIRT2427864	hsa-miR-4640-5p	CLIP-seq
MIRT2427865	hsa-miR-4648	CLIP-seq
MIRT2427866	hsa-miR-4651	CLIP-seq
MIRT2427867	hsa-miR-4654	CLIP-seq
MIRT2427868	hsa-miR-4674	CLIP-seq
MIRT2427869	hsa-miR-4716-3p	CLIP-seq
MIRT2427870	hsa-miR-4723-5p	CLIP-seq
MIRT2427871	hsa-miR-4726-5p	CLIP-seq
MIRT2427872	hsa-miR-4768-3p	CLIP-seq
MIRT2427873	hsa-miR-4769-5p	CLIP-seq
MIRT2427874	hsa-miR-4804-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2427875	hsa-miR-541	CLIP-seq
MIRT2427876	hsa-miR-604	CLIP-seq
MIRT2427877	hsa-miR-608	CLIP-seq
MIRT2427878	hsa-miR-647	CLIP-seq
MIRT2427879	hsa-miR-654-5p	CLIP-seq
MIRT2427880	hsa-miR-767-5p	CLIP-seq
MIRT2427881	hsa-miR-769-3p	CLIP-seq
MIRT2427848	hsa-miR-1205	CLIP-seq
MIRT2436391	hsa-miR-1250	CLIP-seq
MIRT2427849	hsa-miR-1266	CLIP-seq
MIRT2436392	hsa-miR-1321	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT2427850	hsa-miR-1909	CLIP-seq
MIRT1547326	hsa-miR-1915	CLIP-seq
MIRT2436393	hsa-miR-2861	CLIP-seq
MIRT2427851	hsa-miR-29a	CLIP-seq
MIRT2427852	hsa-miR-29b	CLIP-seq
MIRT2427853	hsa-miR-29c	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT2436394	hsa-miR-3150a-3p	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT2436395	hsa-miR-3175	CLIP-seq
MIRT2427854	hsa-miR-3189-3p	CLIP-seq
MIRT2427855	hsa-miR-3649	CLIP-seq
MIRT2436396	hsa-miR-3661	CLIP-seq
MIRT2427856	hsa-miR-3670	CLIP-seq
MIRT2436397	hsa-miR-4283	CLIP-seq
MIRT2427857	hsa-miR-4284	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT2427858	hsa-miR-4417	CLIP-seq
MIRT2436398	hsa-miR-4419a	CLIP-seq
MIRT2427859	hsa-miR-4433	CLIP-seq
MIRT2427860	hsa-miR-4437	CLIP-seq
MIRT2427861	hsa-miR-4459	CLIP-seq
MIRT2436399	hsa-miR-4468	CLIP-seq
MIRT2436400	hsa-miR-4486	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT2436401	hsa-miR-4489	CLIP-seq
MIRT2436402	hsa-miR-4492	CLIP-seq
MIRT2436403	hsa-miR-4498	CLIP-seq
MIRT2436404	hsa-miR-4505	CLIP-seq
MIRT2427862	hsa-miR-450b-3p	CLIP-seq
MIRT2436405	hsa-miR-4510	CLIP-seq
MIRT2436406	hsa-miR-4512	CLIP-seq
MIRT2427863	hsa-miR-4518	CLIP-seq
MIRT2427864	hsa-miR-4640-5p	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT2427865	hsa-miR-4648	CLIP-seq
MIRT2427866	hsa-miR-4651	CLIP-seq
MIRT2427867	hsa-miR-4654	CLIP-seq
MIRT2436407	hsa-miR-4667-5p	CLIP-seq
MIRT2427868	hsa-miR-4674	CLIP-seq
MIRT1547330	hsa-miR-4685-5p	CLIP-seq
MIRT2436408	hsa-miR-4700-5p	CLIP-seq
MIRT2436409	hsa-miR-4706	CLIP-seq
MIRT2427869	hsa-miR-4716-3p	CLIP-seq
MIRT2427870	hsa-miR-4723-5p	CLIP-seq
MIRT2427871	hsa-miR-4726-5p	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT2436410	hsa-miR-4734	CLIP-seq
MIRT2436411	hsa-miR-4739	CLIP-seq
MIRT2436412	hsa-miR-4746-3p	CLIP-seq
MIRT2436413	hsa-miR-4749-5p	CLIP-seq
MIRT2436414	hsa-miR-4756-5p	CLIP-seq
MIRT2427872	hsa-miR-4768-3p	CLIP-seq
MIRT2427873	hsa-miR-4769-5p	CLIP-seq
MIRT2427874	hsa-miR-4804-5p	CLIP-seq
MIRT2436415	hsa-miR-503	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2427875	hsa-miR-541	CLIP-seq
MIRT2436416	hsa-miR-596	CLIP-seq
MIRT2427876	hsa-miR-604	CLIP-seq
MIRT2427877	hsa-miR-608	CLIP-seq
MIRT2436417	hsa-miR-631	CLIP-seq
MIRT2427878	hsa-miR-647	CLIP-seq
MIRT2427879	hsa-miR-654-5p	CLIP-seq
MIRT2436418	hsa-miR-658	CLIP-seq
MIRT2436419	hsa-miR-661	CLIP-seq
MIRT2436420	hsa-miR-744	CLIP-seq
MIRT2436421	hsa-miR-762	CLIP-seq
MIRT2427880	hsa-miR-767-5p	CLIP-seq
MIRT2427881	hsa-miR-769-3p	CLIP-seq
MIRT2436422	hsa-miR-769-5p	CLIP-seq
MIRT2436423	hsa-miR-939	CLIP-seq
MIRT2506694	hsa-miR-3176	CLIP-seq
MIRT2506695	hsa-miR-3180-5p	CLIP-seq
MIRT2506696	hsa-miR-3194-5p	CLIP-seq
MIRT2506697	hsa-miR-326	CLIP-seq
MIRT2506698	hsa-miR-330-5p	CLIP-seq
MIRT2506699	hsa-miR-3922-3p	CLIP-seq
MIRT2506700	hsa-miR-3943	CLIP-seq
MIRT2506701	hsa-miR-4292	CLIP-seq
MIRT2506702	hsa-miR-4323	CLIP-seq
MIRT2506703	hsa-miR-4646-5p	CLIP-seq
MIRT2386348	hsa-miR-4747-5p	CLIP-seq
MIRT2506704	hsa-miR-4757-5p	CLIP-seq
MIRT2506705	hsa-miR-4787-5p	CLIP-seq
MIRT2506706	hsa-miR-486-3p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2506694	hsa-miR-3176	CLIP-seq
MIRT2506695	hsa-miR-3180-5p	CLIP-seq
MIRT2506697	hsa-miR-326	CLIP-seq
MIRT2506698	hsa-miR-330-5p	CLIP-seq
MIRT2506699	hsa-miR-3922-3p	CLIP-seq
MIRT2506704	hsa-miR-4757-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12812986
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	TAS	23869615
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0016020	Component	Membrane	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
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:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0032991	Component	Protein-containing complex	IPI	18400749
GO:0042383	Component	Sarcolemma	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120240
• HGNC: 2212
• e!Ensembl: ENSG00000142173

Protein

• UniProt ID: P12110
• Protein name: Collagen alpha-2(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	46 → 232	von Willebrand factor type A domain	Domain
  PF01391	Collagen	254 → 317	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	301 → 369	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	409 → 468	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	531 → 590	Collagen triple helix repeat (20 copies)	Repeat
  PF00092	VWA	615 → 798	von Willebrand factor type A domain	Domain
  PF00092	VWA	833 → 1011	von Willebrand factor type A domain	Domain

• Sequence:

  MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQ
  SPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIK
  NLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA
  REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
  EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
  GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA
  GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK
  GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
  GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRG
  DFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
  TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRV
  GVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
  QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKP
  QQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG
  SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
  IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
  AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC

• Sequence length: 1019

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2123660828, rs794727715, rs747900252, rs1555873507	RCV001814394 RCV001814091 RCV001814135 RCV001814210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy	Likely pathogenic; Pathogenic	rs747900252, rs1555873507	RCV001261891 RCV001261890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy 1A	Pathogenic; Likely pathogenic	rs2123663616, rs2123455541, rs886042943, rs2123631474, rs111697581, rs267606750, rs878854362, rs886044265, rs2123628814, rs2123628848, rs2078499771, rs1293736497, rs2123454477, rs2123454645, rs2123615453, rs2123661865, rs61735833, rs2123625485, rs762385362, rs2123626138, rs2123626018, rs2123625569, rs2123455043, rs1601221868, rs2078657536, rs1491048605, rs2123454751, rs531816975, rs2123664803, rs2123620765, rs2123627113, rs142296092, rs2123628251, rs2123454401, rs2078532687, rs2123625716, rs1057517988, rs1555873084, rs2123612919, rs2517018355, rs727502827, rs727502828, rs727502832, rs794727855, rs2516996260, rs2517030056, rs794727715, rs1167687731, rs2517030401, rs1442330797, rs2516997223, rs2517018842, rs398123646, rs2516992989, rs751409618, rs886044261, rs148208114, rs2516995291, rs2517029574, rs747900252, rs113828929, rs886042705, rs886043164, rs886043187, rs886043323, rs886044023, rs886044088, rs886044215, rs886044398, rs886044399, rs2517003272, rs2517002190, rs2517014824, rs2516989781, rs2517009429, rs1382122104, rs2517005999, rs2078651031, rs1004649901, rs2516997121, rs1437640012, rs2517006827, rs2517018537, rs121912940, rs1555873356, rs121912942, rs267606747, rs267606748, rs2517029289, rs2517030078, rs1057518925, rs1057520717, rs387906609, rs387906610, rs794727788, rs1555877252, rs770842374, rs138948335, rs1555873353, rs749974929, rs1555877364, rs1012567148, rs749593004, rs1555872873, rs1555873358, rs1555872819, rs1555872965, rs1555873508, rs1375040481, rs1555873507, rs1568928804, rs1568929639, rs752730608, rs886043554, rs751987553, rs1601232289, rs2078438903, rs2078439012, rs797045478, rs2078576503, rs745716104, rs886044466, rs2078514224, rs2078415602, rs2078419667, rs2078478648, rs397515333, rs2078521344, rs2078662535, rs2078477419, rs398123645	RCV001370221 RCV001370698 RCV001378897 RCV001379805 RCV001379668 RCV001378718 RCV001386985 RCV001384346 RCV001386217 RCV001382723 RCV001385805 RCV001387646 RCV001382153 RCV001389529 RCV001387049 RCV002464464 RCV001730011 RCV001994541 RCV001985802 RCV001949820 RCV001950810 RCV001966825 RCV002033244 RCV001992543 RCV001958844 RCV001958972 RCV001988635 RCV002025687 RCV002007371 RCV001939501 RCV001894141 RCV001991396 RCV001949436 RCV001949448 RCV002031960 RCV001951458 RCV001963118 RCV001918252 RCV001956621 RCV002227873 RCV002249827 RCV002254414 RCV002262189 RCV002290123 RCV000810925 RCV002047237 RCV000559107 RCV003064640 RCV003050571 RCV003063456 RCV000178851 RCV000179832 RCV002801408 RCV002824226 RCV002815495 RCV002816214 RCV002806534 RCV002843219 RCV002846897 RCV002871020 RCV002867776 RCV002967921 RCV003025561 RCV000230758 RCV003153080 RCV003153182 RCV000556474 RCV003326395 RCV002518892 RCV001216066 RCV001859624 RCV001855158 RCV000389013 RCV001855169 RCV000393868 RCV000591727 RCV002519323 RCV002519326 RCV000530880 RCV002518124 RCV003329219 RCV003494430 RCV003516747 RCV003516843 RCV003516966 RCV003517697 RCV003631921 RCV003631988 RCV003632054 RCV003632160 RCV003632346 RCV003820900 RCV003865062 RCV003881150 RCV000018695 RCV000018699 RCV000018703 RCV001327989 RCV000529271 RCV000816890 RCV004555827 RCV004555828 RCV001861417 RCV003517189 RCV001851051 RCV000796659 RCV001054018 RCV001857321 RCV000533493 RCV000540933 RCV000525868 RCV000554332 RCV000535368 RCV000537082 RCV000528468 RCV000550156 RCV000527657 RCV000653580 RCV001382429 RCV005091556 RCV001379563 RCV001378598 RCV001054019 RCV001046089 RCV002532835 RCV000653505 RCV000653504 RCV000664226 RCV000691353 RCV000693369 RCV000692014 RCV001045162 RCV000754719 RCV000801168 RCV000797340 RCV000990366 RCV001038343 RCV001065847 RCV001060930 RCV001039836 RCV001039996 RCV001054906 RCV001056424 RCV001045002 RCV001053984 RCV001058088 RCV001215835 RCV001218302 RCV001207655 RCV001213493 RCV001236254 RCV001231224	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bethlem myopathy 1B	Likely pathogenic; Pathogenic	rs2078657536, rs2517005048, rs1382122104, rs121912940, rs267606750, rs1555873356, rs1057520717, rs886044261, rs1555873507, rs398123645	RCV005409860 RCV005870103 RCV004771544 RCV003764593 RCV004574029 RCV003764599 RCV005409653 RCV005641713 RCV005409711 RCV005415404	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	Pathogenic; Likely pathogenic	rs121912942, rs1241180076, rs2516992917, rs387906609, rs387906610	RCV003764601 RCV004588596 RCV004588597 RCV003764621 RCV003764622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL6A2-related core myopathy	Likely pathogenic; Pathogenic	rs2123625485	RCV004587275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL6A2-related disorder	Pathogenic; Likely pathogenic	rs794727788, rs886044215, rs1331260332, rs2078477419	RCV005250029 RCV004535433 RCV004535822 RCV003313998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Collagen 6-related myopathy	Likely pathogenic; Pathogenic	rs747900252, rs387906610, rs1555877252, rs770842374, rs1012567148, rs886043187, rs2078499825	RCV000354105 RCV000778644 RCV005357616 RCV000779359 RCV005091525 RCV002265813 RCV001249754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital hip dislocation	Likely pathogenic; Pathogenic	rs747900252	RCV000626815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Difficulty walking	Likely pathogenic; Pathogenic	rs747900252	RCV000626815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Falls	Likely pathogenic; Pathogenic	rs747900252	RCV000626815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatigue	Likely pathogenic; Pathogenic	rs1057518925	RCV000415423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hip flexor weakness	Likely pathogenic; Pathogenic	rs747900252	RCV000626815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperextensible hand joints	Likely pathogenic; Pathogenic	rs1057518925	RCV000415423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscle weakness	Likely pathogenic; Pathogenic	rs1057518925	RCV000415423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle weakness	Likely pathogenic; Pathogenic	rs747900252	RCV000626815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs1057518925	RCV000415423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic	rs797045478	RCV000193638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myosclerosis	Pathogenic; Likely pathogenic	rs2123612919, rs121912942, rs1057520717, rs1555873507, rs751987553	RCV002262189 RCV000018705 RCV005409653 RCV005409711 RCV000754726	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs2123631474	RCV005912622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal muscle weakness	Likely pathogenic	rs2078477786	RCV003150851	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Qualitative or quantitative defects of collagen 6	Likely pathogenic; Pathogenic	rs747900252	RCV000844694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs753220080	RCV003319277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ullrich congenital muscular dystrophy 1A	Pathogenic; Likely pathogenic	rs777172978, rs986393872, rs1288520983, rs779867653, rs1555873084, rs2123612919, rs747900252, rs886039905, rs113828929, rs2078489585, rs2078514224, rs267606748, rs1057518925, rs387906610, rs1012567148, rs749593004, rs2078662535, rs1440070681, rs398123645	RCV001331589 RCV001375966 RCV001542700 RCV001706917 RCV002254414 RCV002262189 RCV002227463 RCV000256480 RCV000985002 RCV003314086 RCV003389377 RCV004799747 RCV001775116 RCV005644490 RCV004771479 RCV001251126 RCV003330097 RCV001253655 RCV002515767	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ullrich congenital muscular dystrophy 1B	Likely pathogenic; Pathogenic	rs2123646873, rs2078657536, rs747900252, rs886043554, rs1601231322, rs748035948, rs2517006899, rs1568931397, rs267606747, rs267606748, rs1057520717, rs387906608, rs398122821, rs749974929, rs1555873507	RCV003989709 RCV005409860 RCV003989514 RCV005869217 RCV003764594 RCV003764595 RCV003764596 RCV003764597 RCV003764602 RCV003764603 RCV005409653 RCV003764619 RCV003764644 RCV003764645 RCV003767089 RCV005409711	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs387906609	RCV005888644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MUSCULAR DYSTROPHY	—	Orphanet	★★☆☆☆ 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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	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; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely 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
Limb-girdle muscular dystrophy	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; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	31344532		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	23040494	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29860944		★☆☆☆☆ Found in Text Mining only
Bethlem myopathy	Bethlem myopathy	Pubtator	10419498, 11707460, 15689448, 19884007, 20302629, 22075033, 22226732, 25533456, 29774307, 33537799, 35026081, 38065855, 39523858, 39596604, 40225172, 40626679	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy	Bethlem Myopathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BETHLEM MYOPATHY 1	Bethlem Myopathy	CLINVAR_DG	11865138, 15689448, 17785673, 17886299, 18366090, 19309692, 19344236, 19884007, 19949035, 20576434, 20976770, 21280092, 21520333, 23326386, 24038877, 24801232, 25380242, 25533456, 25535305, 27854218, 7695699, 8218237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	UNIPROT_DG	11865138, 15689448, 17886299, 8782832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	15563506, 15689448, 15955946, 16141002, 18366090, 18378883, 20882040, 21496625, 24334769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	GENOMICS_ENGLAND_DG	15689448, 19564581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE	Bethlem Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	38041174	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20063114	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26474971, 34541602	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35036081	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	29860944, 35778717	Associate	★☆☆☆☆ 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	22072978, 8094066		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	14755496		★☆☆☆☆ 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 torticollis	Congenital Torticollis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17602442		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23040494, 38095646	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23452080, 26571399, 7486833, 8094066, 9491853		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23452080	Stimulate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11865138, 15689448, 18852439, 19949035, 20976770, 22426012, 23564457, 24038877, 25204870, 25533456		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36232817	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
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35456975	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type III	Glycogen Storage Disease	BEFREE	21035572		★☆☆☆☆ Found in Text Mining only
Hip Dislocation, Congenital	Congenital Hip dislocation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26571399		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33536009	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	32867823	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	38041174	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	16418593	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27197284		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	20225280, 30963254		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12011280, 12218063, 15563506, 18366090		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	23138527		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	12374585, 18852439		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	BEFREE	18852439, 20302629, 22992134, 24134684, 30397276		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myosclerosis	Myosclerosis	BEFREE	18852439		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myosclerosis	Myosclerosis	ORPHANET_DG	18852439		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myosclerosis	Myosclerosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myosclerosis, Autosomal Recessive	Myosclerosis	GENOMICS_ENGLAND_DG	11381124		★☆☆☆☆ Found in Text Mining only
Myosclerosis, Autosomal Recessive	Myosclerosis	BEFREE	24443028		★☆☆☆☆ Found in Text Mining only
Myosclerosis, Autosomal Recessive	Myosclerosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myosclerosis, Autosomal Recessive	Myosclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 6	Osteogenesis imperfecta	Pubtator	12218063	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27197284		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27197284	Associate	★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37705744	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32048780	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
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	28182637	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30772522	Associate	★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23983263	Associate	★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	11381124, 15689448, 19564581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	11506412, 11992252, 12218063, 12840783, 15127309, 15563506, 15689448, 15955946, 16075202, 16141002, 17588753, 18366090, 18378883, 19884007, 20106987, 20882040, 28831785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	UNIPROT_DG	15563506, 15689448		★★☆☆☆ 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			★★☆☆☆ 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
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	23138527		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29854840, 34112144	Associate	★☆☆☆☆ Found in Text Mining only