COL6A3 (collagen type VI alpha 3 chain)

Gene

• Entrez ID: 1293
• Gene name: Collagen type VI alpha 3 chain
• Gene symbol: COL6A3
• Synonyms (NCBI Gene): BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in si

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34390834	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs34741387	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs78365682	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs111481402	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs112181324	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs112913396	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs113066678	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, coding sequence variant
rs113153193	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs113332380	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs113605136	C>A,G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs113721676	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs113781746	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs114144694	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs114248590	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114338020	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114498197	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs114549120	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs114684687	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114791158	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs115130936	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115155458	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs115401779	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115551245	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant
rs115591088	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115881121	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs115893145	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs115973206	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs116066149	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant, missense variant
rs116239777	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs116541926	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs117345850	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs121434553	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121434554	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs121434555	A>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs138285547	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs138466455	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs139260335	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs140441798	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141280228	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs141560881	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs143237699	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs144051775	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144291325	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs144746928	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs145581705	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs145586177	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs145884404	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs146092501	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146355600	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs147215386	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant
rs147537071	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs148183839	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs148488423	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs148561729	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs148821986	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs148970984	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs150165484	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs151079701	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs151289203	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs182976977	G>A,C	Benign, pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs183247300	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs184617787	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs189411873	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs189772397	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, synonymous variant
rs199632952	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs199646208	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199723531	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs200111289	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200285455	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200621867	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200722892	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs200860322	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201131900	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201479636	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs201532239	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201888442	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202086524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs367991818	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs369537287	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs370146203	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373563217	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374952003	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375442243	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375729592	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375909800	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs375924639	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs376087730	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, intron variant, coding sequence variant
rs376123972	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376201065	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs376525317	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs377572272	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs377629176	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs397515332	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398124119	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained
rs398124126	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398124128	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs528204718	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs535498742	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs535661345	C>T	Uncertain-significance, likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs541928674	C>T	Likely-benign, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs542204130	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs542411896	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs552651651	C>T	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs556079869	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs558665283	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, intron variant, coding sequence variant
rs563813743	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs570963533	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs571287679	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs727503885	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs748814297	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs749037028	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs749855513	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs752530417	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs755902927	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant
rs758124326	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs758582935	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs760446904	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs761796175	G>A	Pathogenic	Coding sequence variant, stop gained
rs762950440	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs763187844	G>A	Pathogenic	Coding sequence variant, stop gained
rs763348222	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs764193290	T>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs765101399	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs765837100	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs766488017	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs766589204	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs767517186	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs768233315	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs771941724	G>A,T	Likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs774115247	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs774198344	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs775821966	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs776493521	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs777242754	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs777304794	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs777752945	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs780921503	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs781043870	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs786205870	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs794727188	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs794727206	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs794729205	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs797044988	T>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs797045479	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs878854379	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs886041329	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041434	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042402	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886042447	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042623	AA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042883	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs886042997	G>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886043113	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886043519	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886043576	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886043737	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886043919	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs886043992	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044252	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs894679602	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs898779231	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant, synonymous variant
rs912671116	G>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic downstream transcript variant
rs995147980	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1064795558	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1085307697	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1085307777	G>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1230578718	C>A	Likely-pathogenic	Splice donor variant, intron variant
rs1268762655	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1306053610	A>C,G	Likely-pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs1553544667	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553553248	ACCATCCAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1553553267	TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1553553313	TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATG	Pathogenic	Genic downstream transcript variant, splice acceptor variant, splice donor variant, intron variant, coding sequence variant
rs1553553327	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1553553625	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553553646	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553554298	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553554384	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553557696	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs1553561409	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559225974	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1559225993	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1559228507	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1559234260	C>A	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1559253935	TGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559257971	A>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1559261557	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1574701592	C>A	Likely-pathogenic	Splice donor variant, coding sequence variant, missense variant
rs1574719512	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1574724863	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1574942920	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1574975196	C>G,T	Pathogenic, likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1574976615	GGACCACGCTC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT756089	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT903151	hsa-miR-1207-5p	CLIP-seq
MIRT903152	hsa-miR-1275	CLIP-seq
MIRT903153	hsa-miR-4488	CLIP-seq
MIRT903154	hsa-miR-4665-5p	CLIP-seq
MIRT903155	hsa-miR-4697-5p	CLIP-seq
MIRT903156	hsa-miR-4763-3p	CLIP-seq
MIRT903157	hsa-miR-486-3p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547338	hsa-miR-1254	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT1547341	hsa-miR-1290	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547344	hsa-miR-146a	CLIP-seq
MIRT1547345	hsa-miR-146b-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT1547348	hsa-miR-2115	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT1547353	hsa-miR-3116	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547356	hsa-miR-345	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT1547358	hsa-miR-376c	CLIP-seq
MIRT1547359	hsa-miR-3925-5p	CLIP-seq
MIRT1547360	hsa-miR-3977	CLIP-seq
MIRT1547361	hsa-miR-4254	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT1547365	hsa-miR-4475	CLIP-seq
MIRT1547366	hsa-miR-4539	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547370	hsa-miR-4672	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547380	hsa-miR-516a-3p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547388	hsa-miR-548l	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT1547392	hsa-miR-661	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1967788	hsa-miR-877	CLIP-seq
MIRT2203643	hsa-miR-3188	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT903151	hsa-miR-1207-5p	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT2427882	hsa-miR-124	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT2427883	hsa-miR-1256	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT903152	hsa-miR-1275	CLIP-seq
MIRT1547341	hsa-miR-1290	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT2427886	hsa-miR-133a	CLIP-seq
MIRT2427887	hsa-miR-133b	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT2427891	hsa-miR-181a	CLIP-seq
MIRT2427892	hsa-miR-181b	CLIP-seq
MIRT2427893	hsa-miR-181c	CLIP-seq
MIRT2427894	hsa-miR-181d	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT1547348	hsa-miR-2115	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427898	hsa-miR-3129-3p	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT2427900	hsa-miR-3153	CLIP-seq
MIRT2427901	hsa-miR-3192	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT1547356	hsa-miR-345	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427906	hsa-miR-3714	CLIP-seq
MIRT1547358	hsa-miR-376c	CLIP-seq
MIRT2427907	hsa-miR-3910	CLIP-seq
MIRT2427908	hsa-miR-3941	CLIP-seq
MIRT2427909	hsa-miR-3973	CLIP-seq
MIRT1547360	hsa-miR-3977	CLIP-seq
MIRT2427910	hsa-miR-4262	CLIP-seq
MIRT2427911	hsa-miR-4281	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427913	hsa-miR-4314	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT2427915	hsa-miR-4438	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427916	hsa-miR-4453	CLIP-seq
MIRT1547365	hsa-miR-4475	CLIP-seq
MIRT903153	hsa-miR-4488	CLIP-seq
MIRT2427917	hsa-miR-4509	CLIP-seq
MIRT2427918	hsa-miR-4538	CLIP-seq
MIRT1547366	hsa-miR-4539	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT2427920	hsa-miR-4646-5p	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT2427921	hsa-miR-466	CLIP-seq
MIRT903154	hsa-miR-4665-5p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT2427922	hsa-miR-4668-5p	CLIP-seq
MIRT1547370	hsa-miR-4672	CLIP-seq
MIRT903155	hsa-miR-4697-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT2427924	hsa-miR-4720-3p	CLIP-seq
MIRT2427925	hsa-miR-4731-3p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427926	hsa-miR-4744	CLIP-seq
MIRT903156	hsa-miR-4763-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT2427930	hsa-miR-4801	CLIP-seq
MIRT2427931	hsa-miR-4804-3p	CLIP-seq
MIRT903157	hsa-miR-486-3p	CLIP-seq
MIRT2427932	hsa-miR-506	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT2427933	hsa-miR-515-5p	CLIP-seq
MIRT1547380	hsa-miR-516a-3p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT2427934	hsa-miR-520g	CLIP-seq
MIRT2427935	hsa-miR-520h	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT2427936	hsa-miR-543	CLIP-seq
MIRT1547388	hsa-miR-548l	CLIP-seq
MIRT2427937	hsa-miR-554	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT2506707	hsa-miR-1	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT2506708	hsa-miR-206	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT2506709	hsa-miR-23a	CLIP-seq
MIRT2506710	hsa-miR-23b	CLIP-seq
MIRT2506711	hsa-miR-23c	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT2506712	hsa-miR-3591-3p	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT2506713	hsa-miR-613	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT2506707	hsa-miR-1	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT2678426	hsa-miR-1226	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT2506708	hsa-miR-206	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT2506709	hsa-miR-23a	CLIP-seq
MIRT2506710	hsa-miR-23b	CLIP-seq
MIRT2506711	hsa-miR-23c	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT2506712	hsa-miR-3591-3p	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT2506713	hsa-miR-613	CLIP-seq
MIRT2678427	hsa-miR-634	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
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	8782832, 23869615
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007517	Process	Muscle organ development	TAS	8782832
GO:0009411	Process	Response to UV	IEA
GO:0009749	Process	Response to glucose	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:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IDA	18400749
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
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	19056867, 23533145
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120250
• HGNC: 2213
• e!Ensembl: ENSG00000163359

Protein

• UniProt ID: P12111
• Protein name: Collagen alpha-3(VI) chain
• Protein function: Collagen VI acts as a cell-binding protein.
• PDB: 1KNT, 1KTH, 1KUN, 2KNT, 6SNK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	39 → 212	von Willebrand factor type A domain	Domain
  PF00092	VWA	242 → 414	von Willebrand factor type A domain	Domain
  PF00092	VWA	445 → 616	von Willebrand factor type A domain	Domain
  PF00092	VWA	639 → 811	von Willebrand factor type A domain	Domain
  PF00092	VWA	837 → 1008	von Willebrand factor type A domain	Domain
  PF00092	VWA	1029 → 1200	von Willebrand factor type A domain	Domain
  PF00092	VWA	1233 → 1403	von Willebrand factor type A domain	Domain
  PF00092	VWA	1436 → 1608	von Willebrand factor type A domain	Domain
  PF00092	VWA	1639 → 1811	von Willebrand factor type A domain	Domain
  PF01391	Collagen	2036 → 2096	Collagen triple helix repeat (20 copies)	Repeat
  PF00092	VWA	2402 → 2579	von Willebrand factor type A domain	Domain
  PF00092	VWA	2619 → 2808	von Willebrand factor type A domain	Domain
  PF00014	Kunitz_BPTI	3111 → 3163	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

• Sequence:

  MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVRE
  FLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGK
  GLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDA
  DEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDS
  ADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
  TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSD
  EIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV
  GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQD
  LIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSS
  AGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
  LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRD
  FVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTG
  SALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQ
  ANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF
  LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
  NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPA
  SNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGA
  PAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEF
  YLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLT
  ADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
  ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD
  YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
  RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVK
  ISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFL
  IDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
  DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFA
  QVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATP
  APPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL
  VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLD
  QRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
  NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFES
  KVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQ
  HPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILV
  GLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQR
  GDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
  GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNP
  GQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGF
  EGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGP
  KGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIR
  GRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
  TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRF
  ADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT
  RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLEN
  VLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKK
  YIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
  FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVIL
  QAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFV
  SSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTT
  KPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT
  AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
  TENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC
  YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGT
  CRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT

• Sequence length: 3177

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	rs2106314700, rs1395597644	RCV001814343 RCV001814348	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bethlem myopathy 1A	Pathogenic; Likely pathogenic	rs398124126, rs398124128, rs886044593, rs2076974450, rs1323862623, rs2106341460, rs2106344225, rs948586287, rs2106324972, rs761453030, rs886043919, rs2106312317, rs2106324666, rs767654047, rs2106367443, rs2106341434, rs2106366689, rs1405374416, rs2106325341, rs2106388332, rs2106343479, rs764524653, rs2106361236, rs2106350905, rs797044988, rs1315877654, rs2469884673, rs757187481, rs767517186, rs750471097, rs794727188, rs755754433, rs2469862075, rs139260335, rs1417019207, rs794729205, rs1325798552, rs2469889068, rs2469888379, rs2469928713, rs2469905125, rs2469872324, rs971398848, rs2469975035, rs1559280064, rs2469889428, rs2469929211, rs910170157, rs878854379, rs886041329, rs886042447, rs886042623, rs886042883, rs397515332, rs886043113, rs780921503, rs886043737, rs886044252, rs778487068, rs2469845990, rs1395597644, rs2469804002, rs2469856775, rs2469819229, rs2469883327, rs2469949831, rs775433277, rs1301584371, rs2469880434, rs121434553, rs749037028, rs121434554, rs764193290, rs777304794, rs761796175, rs774115247, rs1553544667, rs1553561409, rs895701604, rs1553553646, rs763187844, rs1268762655, rs1553554298, rs912671116, rs1553553267, rs781043870, rs1553553625, rs1553553313, rs1559225993, rs1230578718, rs1559261557, rs1559234260, rs1559225974, rs771941724, rs1574975196, rs1574975203, rs1574719512, rs1574976615, rs1574942920, rs1574724863, rs2077054122, rs2077607833, rs755382829, rs2077385886, rs748966916, rs2076967147, rs398124125, rs2077379376	RCV000817699 RCV001854427 RCV001327990 RCV001331208 RCV001384667 RCV001389458 RCV001381577 RCV001390985 RCV001806416 RCV002028012 RCV002039049 RCV001912583 RCV001930126 RCV001972120 RCV002007195 RCV002019069 RCV001994698 RCV001994492 RCV001936515 RCV001951116 RCV002014210 RCV001887109 RCV001951341 RCV002027068 RCV002254381 RCV002289292 RCV002290057 RCV003071183 RCV000688238 RCV002615961 RCV000175185 RCV002664288 RCV002651627 RCV000352490 RCV002576577 RCV000987062 RCV002643422 RCV000190463 RCV002810900 RCV002834194 RCV002834195 RCV002866666 RCV002847127 RCV002852083 RCV002862606 RCV002948521 RCV003020180 RCV003054362 RCV003046909 RCV000232617 RCV001059032 RCV001211664 RCV001048166 RCV001859603 RCV000653528 RCV005090362 RCV000319175 RCV002519256 RCV000396169 RCV002518040 RCV000546975 RCV003631310 RCV003631325 RCV003518094 RCV003518744 RCV003516699 RCV003518828 RCV003516804 RCV003631771 RCV003631786 RCV003632012 RCV003632206 RCV003858585 RCV003870410 RCV000018689 RCV003517127 RCV002247356 RCV000477801 RCV000802661 RCV000704208 RCV001389456 RCV001386731 RCV000558187 RCV000559787 RCV000529470 RCV000543703 RCV000549430 RCV000557822 RCV002529043 RCV003631131 RCV000810824 RCV001854073 RCV001860425 RCV000653585 RCV000692116 RCV000685452 RCV000705191 RCV000689961 RCV000794660 RCV000754721 RCV002290033 RCV000816361 RCV000806159 RCV000811569 RCV001853072 RCV000987064 RCV001007862 RCV001007787 RCV001047280 RCV001049713 RCV001063703 RCV001067095 RCV002290634 RCV001208029 RCV001206994 RCV001202087 RCV001245856	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bethlem myopathy 1C	Pathogenic; Likely pathogenic	rs398124126, rs139260335, rs2469819229, rs758626447, rs121434553, rs2469867055, rs121434555, rs2469799960, rs761796175	RCV005859498 RCV004589832 RCV004813234 RCV004595715 RCV003764588 RCV003764591 RCV003764592 RCV004588598 RCV004797817	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL6A3-related disorder	Likely pathogenic; Pathogenic	rs139260335, rs780921503, rs2469883432, rs758626447, rs764193290, rs755382829	RCV003387788 RCV005230228 RCV004550569 RCV004554350 RCV004551575 RCV004547970	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Collagen 6-related myopathy	Likely pathogenic; Pathogenic	rs398124128, rs780921503, rs398124125	RCV003225991 RCV004786653 RCV003985176	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 27	Pathogenic; Likely pathogenic	rs767517186, rs750471097, rs139260335, rs764193290, rs761796175	RCV000172851 RCV004784103 RCV004783757 RCV000477801 RCV003224805	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs797045479	RCV005625425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs797045479	RCV000192833	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1574701592	RCV005912256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs797044988	RCV005930088 RCV005892211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs2469784497	RCV003319285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ullrich congenital muscular dystrophy 1A	Pathogenic; Likely pathogenic	rs398124126, rs398124128, rs2106317762, rs2106319784, rs797044988, rs530866854, rs139260335, rs2469905125, rs2469787511, rs762768377, rs886042883, rs886043919, rs886041329, rs2469865292, rs2469787965, rs1553553625, rs749037028, rs764193290, rs761796175, rs774115247, rs1553553327, rs1559225993, rs771941724	RCV000175056 RCV001775079 RCV002226905 RCV002227842 RCV002254381 RCV002282871 RCV005237658 RCV000190463 RCV005239519 RCV003147874 RCV003147953 RCV001249572 RCV000760148 RCV003326232 RCV003404953 RCV003448761 RCV003454380 RCV000018690 RCV000477801 RCV003224805 RCV005252925 RCV001809468 RCV003338733 RCV000785956	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ullrich congenital muscular dystrophy 1C	Pathogenic; Likely pathogenic	rs398124126, rs749037028, rs121434554, rs761796175, rs755382829	RCV003764764 RCV003764589 RCV003764590 RCV004797817 RCV005367704	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MUSCULAR DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL6A3-related phenotype	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contracture	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL JOINT CONTRACTURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE OF MULTIPLE JOINTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA MUSCULORUM DEFORMANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC FAMILIAL DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	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
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple joint contractures	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DYSTONIA, DYT27 TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY OPEN ANGLE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	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
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	29681617		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28781950		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	34968759	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	39895541	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	BEFREE	20576434		★☆☆☆☆ Found in Text Mining only
Bethlem myopathy	Bethlem myopathy	Pubtator	10419498, 11707460, 15689448, 19884007, 20882040, 22075033, 22226732, 29774307, 33596003, 39523858, 40225172, 40626679	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	10399756, 15563506, 15689448, 15955946, 16141002, 18366090, 18378883, 19884007, 20882040, 21496625, 24334769, 28831785, 29894794, 8817344, 9536084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	UNIPROT_DG	10399756, 15689448, 17886299, 9536084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETHLEM MYOPATHY 1	Bethlem Myopathy	CLINVAR_DG	15563506, 15689448, 17886299, 18366090, 18825676, 19344236, 20976770, 21280092, 24038877, 26004199, 26247046, 27447704, 27854218, 28688748, 7695699, 8218237		★★☆☆☆ 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
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	38041174	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30066698		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28105922, 34541602, 35296631	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
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	19884007		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30066698		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31286980		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32934754, 33221741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35036081	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31286980	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37079385	Stimulate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26338966, 29620224		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17192196, 24951259, 28105922, 29620224, 32356618, 32503434, 37189003	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26338966	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30876691		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG	27854218		★☆☆☆☆ 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
Contracture	Contracture	Pubtator	33749658	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31814889		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	40026415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	19884007		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	30014607		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	30014607		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25337653		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25337653		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35592524	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19837927		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35923621	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30485525		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	36980840	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	9491853		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30365130	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33964895	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 27	Dystonia	GENOMICS_ENGLAND_DG	11992252		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 27	Dystonia	ORPHANET_DG	26004199		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 27	Dystonia	UNIPROT_DG	26004199		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 27	Dystonia	BEFREE	26687111, 29066004		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 27	Dystonia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia Disorders	Dystonia	BEFREE	26687111, 26872670, 26991507, 29066004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectrodactyly	Ectrodactyly	Pubtator	32269565	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	36243603	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	19723343	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37612452	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31425922		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31425922		★☆☆☆☆ 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
Gastroschisis	Gastroschisis	Pubtator	32163230	Associate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	30014607		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	16407111, 36320082	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34143713	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30497369	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30014607	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30226566	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37731513	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36647141	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23780376	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24719315	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	33596003	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	20882040		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	28105922		★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29760565, 30246318		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	38041174	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	39560968	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31286980	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31425922		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31286980		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21719059		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17601708, 31122696, 31249732		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30066698		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23818951, 24002763, 30066698		★☆☆☆☆ 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
Movement Disorders	Movement Disorders	BEFREE	26687111, 26872670		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	20225280, 29970176		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	11992252, 12011280, 15563506, 18366090		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy	Muscular dystrophy	BEFREE	28918041		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	38057384	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30226566	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	21496625, 24038877, 24443028, 29894794		★★★★☆ 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)
Myosclerosis	Myosclerosis	BEFREE	22226732		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21719059, 25455875, 30246318		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	22526018, 33567613, 36980840	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19837927, 24719315	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24719315, 25337653		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35093162, 39213112	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	37024074	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32999266, 39213112	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32696868	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21719059		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24002763		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34854950	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33964895	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	21719059, 24002763		★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary dystonia, DYT27 type	Dystonia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18353764	Associate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37731513	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31814889		★☆☆☆☆ 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
Skin Abnormalities	Skin abnormalities	Pubtator	33749658	Associate	★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	28182637	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17601708, 31122696, 31249732		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17601708, 29921304, 37800754	Associate	★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	11992252, 12840783, 15127309, 15229843, 15563506, 15689448, 15955946, 16141002, 18366090, 18378883, 19884007, 20882040, 22226732, 28831785, 29894794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	11992252, 15689448, 19564581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	CLINVAR_DG	15563506, 18366090, 19564581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	UNIPROT_DG	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	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	30066698, 30723390, 36595851	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36768853	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33829064	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28825729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only