COL1A2 (collagen type I alpha 2 chain)

Gene

• Entrez ID: 1278
• Gene name: Collagen type I alpha 2 chain
• Gene symbol: COL1A2
• Synonyms (NCBI Gene): EDSARTH2, EDSCV, OI4
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutatio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs66612022	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs66619856	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs66773001	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs66820119	G>A,C,T	Pathogenic	Splice acceptor variant
rs66883877	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs67162110	G>A,C	Pathogenic	Splice donor variant
rs67398234	G>A,T	Pathogenic	Splice donor variant
rs67525025	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67543427	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67609234	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67707918	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67729041	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67768540	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs67865220	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs68132885	G>A,C	Pathogenic	Intron variant
rs72656354	A>G	Pathogenic	Intron variant
rs72656355	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs72656356	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656357	T>C	Pathogenic	Splice donor variant
rs72656359	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656360	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656363	AGTA>-	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs72656367	G>A	Pathogenic	Intron variant
rs72656369	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72656370	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656375	A>G	Likely-pathogenic	Splice acceptor variant
rs72656386	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656387	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656389	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs72656390	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656392	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs72656394	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72656396	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656402	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658103	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72658104	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs72658108	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658117	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658118	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658119	G>C	Pathogenic	Missense variant, coding sequence variant
rs72658121	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658127	A>G	Pathogenic	Intron variant
rs72658129	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72658137	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658143	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658150	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658151	G>A	Pathogenic	Splice donor variant
rs72658152	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658154	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72658157	G>A	Pathogenic	Intron variant
rs72658160	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs72658161	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658164	T>A	Likely-pathogenic	Intron variant
rs72658176	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658177	G>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72658182	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658185	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658186	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658189	G>C	Pathogenic	Missense variant, coding sequence variant
rs72658193	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658194	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658198	G>A	Pathogenic	Splice donor variant
rs72658200	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659305	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659310	G>A	Pathogenic	Splice donor variant
rs72659312	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659319	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72659322	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659323	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659324	T>C	Pathogenic	Splice donor variant
rs72659325	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72659335	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72659338	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659340	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs72659343	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs72659345	ATAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs74315103	TCCCCCTGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs121912900	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912901	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912902	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912903	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912904	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912905	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912906	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912907	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912908	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912909	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912910	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912911	G>C	Pathogenic	Missense variant, coding sequence variant
rs121912912	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs139851311	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142352627	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs144797861	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145355907	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150124840	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs189557655	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs193922159	C>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922162	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922165	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922166	A>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs193922167	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922168	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922173	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922175	GTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs200744314	A>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs267606741	G>A	Pathogenic	Missense variant, coding sequence variant
rs267606742	G>A	Pathogenic	Missense variant, coding sequence variant
rs370234887	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765470622	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs768171831	C>T	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs769600024	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205587	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794727470	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs794727669	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044459	->C	Pathogenic	Coding sequence variant, frameshift variant
rs797044949	G>T	Pathogenic	Coding sequence variant, missense variant
rs886039689	G>A	Pathogenic	Missense variant, coding sequence variant
rs886041426	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041749	G>A	Pathogenic	Missense variant, coding sequence variant
rs886042129	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886043796	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886044109	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs906553840	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs928361235	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516036	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057516053	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517953	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1057518136	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518967	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524847	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524873	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1064793527	T>-	Not-provided, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794058	G>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs1064796419	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064796593	G>A	Pathogenic	Missense variant, coding sequence variant
rs1085307477	G>A	Pathogenic	Splice donor variant
rs1085307707	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167364	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1114167412	G>C	Pathogenic	Missense variant, coding sequence variant
rs1114167414	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167415	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1114167416	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167417	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1114167418	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131691888	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131692167	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1200377228	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1410254723	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1554395411	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554395431	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1554395470	T>G	Likely-pathogenic	Intron variant
rs1554395471	A>C,G	Likely-pathogenic	Splice acceptor variant
rs1554395833	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554395903	A>C	Pathogenic	Splice acceptor variant
rs1554395970	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396083	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396162	GGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554396271	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1554396283	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396355	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396361	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396612	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396615	G>C	Likely-pathogenic	Splice donor variant
rs1554396679	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396680	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396832	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1554396983	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397133	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554397369	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397621	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397975	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398126	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398251	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398261	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554398361	GT>-	Pathogenic	Coding sequence variant, splice donor variant
rs1554398396	->CCTGCTGGT	Pathogenic	Coding sequence variant, inframe insertion
rs1562899031	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562900123	CAGTAAGT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1562900513	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562905224	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562905246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562906013	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1562906570	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907190	G>C	Likely-pathogenic	Splice donor variant
rs1562907287	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1584315950	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584316181	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318303	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318648	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318953	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318956	TTGGTAACGCTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1584319045	GTCTTCCAGGCCTCTCCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584319418	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584319922	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584320553	G>T	Pathogenic	Missense variant, coding sequence variant
rs1584320605	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1584321194	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584322737	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584324507	G>T	Pathogenic	Missense variant, coding sequence variant
rs1584325552	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584326393	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584328014	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584328061	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs1584329740	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584330396	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584330959	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584332692	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000472	hsa-let-7g-5p	qRT-PCR, Luciferase reporter assay, Western blot	20338660
MIRT001928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT001928	hsa-miR-29c-3p	Microarray, qRT-PCR	24590289
MIRT570021	hsa-miR-4781-5p	PAR-CLIP	20371350
MIRT570020	hsa-miR-4424	PAR-CLIP	20371350
MIRT570019	hsa-miR-4533	PAR-CLIP	20371350
MIRT570018	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT570016	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT570017	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT570015	hsa-miR-6090	PAR-CLIP	20371350
MIRT570014	hsa-miR-4271	PAR-CLIP	20371350
MIRT570013	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT570012	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT570011	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT570010	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT570009	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT570008	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570007	hsa-miR-5698	PAR-CLIP	20371350
MIRT570006	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570004	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT570005	hsa-miR-4525	PAR-CLIP	20371350
MIRT570003	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT570002	hsa-miR-569	PAR-CLIP	20371350
MIRT570001	hsa-miR-1275	PAR-CLIP	20371350
MIRT570000	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT569999	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT569998	hsa-miR-6751-5p	PAR-CLIP	20371350
MIRT569997	hsa-miR-6803-5p	PAR-CLIP	20371350
MIRT731943	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28079129
MIRT731943	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28079129
MIRT570021	hsa-miR-4781-5p	PAR-CLIP	20371350
MIRT570020	hsa-miR-4424	PAR-CLIP	20371350
MIRT570019	hsa-miR-4533	PAR-CLIP	20371350
MIRT570018	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT570016	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT570017	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT570015	hsa-miR-6090	PAR-CLIP	20371350
MIRT570014	hsa-miR-4271	PAR-CLIP	20371350
MIRT570013	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT570012	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT570011	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT570010	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT570009	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT570008	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570007	hsa-miR-5698	PAR-CLIP	20371350
MIRT570006	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570004	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT570005	hsa-miR-4525	PAR-CLIP	20371350
MIRT570003	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT570002	hsa-miR-569	PAR-CLIP	20371350
MIRT570001	hsa-miR-1275	PAR-CLIP	20371350
MIRT570000	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT569999	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT569998	hsa-miR-6751-5p	PAR-CLIP	20371350
MIRT569997	hsa-miR-6803-5p	PAR-CLIP	20371350
MIRT902715	hsa-miR-1305	CLIP-seq
MIRT902716	hsa-miR-3200-5p	CLIP-seq
MIRT902717	hsa-miR-3671	CLIP-seq
MIRT902718	hsa-miR-4260	CLIP-seq
MIRT902719	hsa-miR-4311	CLIP-seq
MIRT902720	hsa-miR-4517	CLIP-seq
MIRT902721	hsa-miR-4766-5p	CLIP-seq
MIRT902722	hsa-miR-5096	CLIP-seq
MIRT902723	hsa-miR-513a-3p	CLIP-seq
MIRT902724	hsa-miR-513b	CLIP-seq
MIRT902725	hsa-miR-561	CLIP-seq
MIRT902726	hsa-miR-579	CLIP-seq
MIRT902727	hsa-miR-607	CLIP-seq
MIRT902728	hsa-miR-625	CLIP-seq
MIRT902729	hsa-miR-939	CLIP-seq
MIRT1546809	hsa-let-7a	CLIP-seq
MIRT1546810	hsa-let-7b	CLIP-seq
MIRT1546811	hsa-let-7c	CLIP-seq
MIRT1546812	hsa-let-7d	CLIP-seq
MIRT1546813	hsa-let-7e	CLIP-seq
MIRT1546814	hsa-let-7f	CLIP-seq
MIRT1546815	hsa-let-7g	CLIP-seq
MIRT1546816	hsa-let-7i	CLIP-seq
MIRT1546817	hsa-miR-1237	CLIP-seq
MIRT1546818	hsa-miR-1248	CLIP-seq
MIRT1546819	hsa-miR-1297	CLIP-seq
MIRT1546820	hsa-miR-1304	CLIP-seq
MIRT902715	hsa-miR-1305	CLIP-seq
MIRT1546821	hsa-miR-196a	CLIP-seq
MIRT1546822	hsa-miR-196b	CLIP-seq
MIRT1546823	hsa-miR-19a	CLIP-seq
MIRT1546824	hsa-miR-19b	CLIP-seq
MIRT1546825	hsa-miR-202	CLIP-seq
MIRT1546826	hsa-miR-2052	CLIP-seq
MIRT1546827	hsa-miR-25	CLIP-seq
MIRT1546828	hsa-miR-26a	CLIP-seq
MIRT1546829	hsa-miR-26b	CLIP-seq
MIRT1546830	hsa-miR-29a	CLIP-seq
MIRT1546831	hsa-miR-29b	CLIP-seq
MIRT1546832	hsa-miR-29c	CLIP-seq
MIRT1546833	hsa-miR-300	CLIP-seq
MIRT1546834	hsa-miR-3065-3p	CLIP-seq
MIRT1546835	hsa-miR-3120-5p	CLIP-seq
MIRT1546836	hsa-miR-3128	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546838	hsa-miR-3148	CLIP-seq
MIRT1546839	hsa-miR-3149	CLIP-seq
MIRT1546840	hsa-miR-3153	CLIP-seq
MIRT1546841	hsa-miR-3182	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546844	hsa-miR-3194-3p	CLIP-seq
MIRT1546845	hsa-miR-32	CLIP-seq
MIRT902716	hsa-miR-3200-5p	CLIP-seq
MIRT1546846	hsa-miR-3202	CLIP-seq
MIRT1546847	hsa-miR-342-3p	CLIP-seq
MIRT1546848	hsa-miR-363	CLIP-seq
MIRT1546849	hsa-miR-3647-3p	CLIP-seq
MIRT1546850	hsa-miR-3659	CLIP-seq
MIRT1546851	hsa-miR-3662	CLIP-seq
MIRT1546852	hsa-miR-367	CLIP-seq
MIRT902717	hsa-miR-3671	CLIP-seq
MIRT1546853	hsa-miR-3672	CLIP-seq
MIRT1546854	hsa-miR-3688-3p	CLIP-seq
MIRT1546855	hsa-miR-3691-5p	CLIP-seq
MIRT1546856	hsa-miR-371-5p	CLIP-seq
MIRT1546857	hsa-miR-371b-5p	CLIP-seq
MIRT1546858	hsa-miR-381	CLIP-seq
MIRT1546859	hsa-miR-3934	CLIP-seq
MIRT1546860	hsa-miR-3940-5p	CLIP-seq
MIRT902718	hsa-miR-4260	CLIP-seq
MIRT1546861	hsa-miR-4272	CLIP-seq
MIRT1546862	hsa-miR-4277	CLIP-seq
MIRT902719	hsa-miR-4311	CLIP-seq
MIRT1546863	hsa-miR-4327	CLIP-seq
MIRT1546864	hsa-miR-4426	CLIP-seq
MIRT1546865	hsa-miR-4458	CLIP-seq
MIRT1546866	hsa-miR-4463	CLIP-seq
MIRT1546867	hsa-miR-4465	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT1546869	hsa-miR-4491	CLIP-seq
MIRT1546870	hsa-miR-4500	CLIP-seq
MIRT1546871	hsa-miR-4503	CLIP-seq
MIRT1546872	hsa-miR-4507	CLIP-seq
MIRT1546873	hsa-miR-4647	CLIP-seq
MIRT1546874	hsa-miR-4657	CLIP-seq
MIRT1546875	hsa-miR-4659a-3p	CLIP-seq
MIRT1546876	hsa-miR-4659b-3p	CLIP-seq
MIRT1546877	hsa-miR-4662b	CLIP-seq
MIRT1546878	hsa-miR-4666-3p	CLIP-seq
MIRT1546879	hsa-miR-4668-5p	CLIP-seq
MIRT1546880	hsa-miR-4694-3p	CLIP-seq
MIRT1546881	hsa-miR-4700-3p	CLIP-seq
MIRT1546882	hsa-miR-4738-3p	CLIP-seq
MIRT1546883	hsa-miR-4742-3p	CLIP-seq
MIRT1546884	hsa-miR-4752	CLIP-seq
MIRT1546885	hsa-miR-4753-3p	CLIP-seq
MIRT1546886	hsa-miR-4760-5p	CLIP-seq
MIRT902721	hsa-miR-4766-5p	CLIP-seq
MIRT1546887	hsa-miR-4768-5p	CLIP-seq
MIRT1546888	hsa-miR-4775	CLIP-seq
MIRT1546889	hsa-miR-489	CLIP-seq
MIRT1546890	hsa-miR-500a	CLIP-seq
MIRT902722	hsa-miR-5096	CLIP-seq
MIRT902724	hsa-miR-513b	CLIP-seq
MIRT1546891	hsa-miR-513c	CLIP-seq
MIRT1546892	hsa-miR-514b-5p	CLIP-seq
MIRT1546893	hsa-miR-543	CLIP-seq
MIRT1546894	hsa-miR-544	CLIP-seq
MIRT1546895	hsa-miR-548g	CLIP-seq
MIRT1546896	hsa-miR-552	CLIP-seq
MIRT902725	hsa-miR-561	CLIP-seq
MIRT1546897	hsa-miR-563	CLIP-seq
MIRT1546898	hsa-miR-576-3p	CLIP-seq
MIRT902726	hsa-miR-579	CLIP-seq
MIRT1546899	hsa-miR-584	CLIP-seq
MIRT1546900	hsa-miR-587	CLIP-seq
MIRT1546901	hsa-miR-590-3p	CLIP-seq
MIRT902727	hsa-miR-607	CLIP-seq
MIRT902728	hsa-miR-625	CLIP-seq
MIRT1546902	hsa-miR-629	CLIP-seq
MIRT1546903	hsa-miR-642a	CLIP-seq
MIRT1546904	hsa-miR-653	CLIP-seq
MIRT1546905	hsa-miR-7	CLIP-seq
MIRT1546906	hsa-miR-767-5p	CLIP-seq
MIRT1546907	hsa-miR-92a	CLIP-seq
MIRT1546908	hsa-miR-92b	CLIP-seq
MIRT1546909	hsa-miR-935	CLIP-seq
MIRT902729	hsa-miR-939	CLIP-seq
MIRT1546910	hsa-miR-942	CLIP-seq
MIRT1546911	hsa-miR-98	CLIP-seq
MIRT1546841	hsa-miR-3182	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546841	hsa-miR-3182	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546809	hsa-let-7a	CLIP-seq
MIRT1546810	hsa-let-7b	CLIP-seq
MIRT1546811	hsa-let-7c	CLIP-seq
MIRT1546812	hsa-let-7d	CLIP-seq
MIRT1546813	hsa-let-7e	CLIP-seq
MIRT1546814	hsa-let-7f	CLIP-seq
MIRT1546815	hsa-let-7g	CLIP-seq
MIRT1546816	hsa-let-7i	CLIP-seq
MIRT2427487	hsa-miR-105	CLIP-seq
MIRT1546817	hsa-miR-1237	CLIP-seq
MIRT1546818	hsa-miR-1248	CLIP-seq
MIRT1546819	hsa-miR-1297	CLIP-seq
MIRT1546820	hsa-miR-1304	CLIP-seq
MIRT902715	hsa-miR-1305	CLIP-seq
MIRT1546821	hsa-miR-196a	CLIP-seq
MIRT1546822	hsa-miR-196b	CLIP-seq
MIRT1546823	hsa-miR-19a	CLIP-seq
MIRT1546824	hsa-miR-19b	CLIP-seq
MIRT1546825	hsa-miR-202	CLIP-seq
MIRT1546826	hsa-miR-2052	CLIP-seq
MIRT2427488	hsa-miR-2116	CLIP-seq
MIRT1546827	hsa-miR-25	CLIP-seq
MIRT1546828	hsa-miR-26a	CLIP-seq
MIRT1546829	hsa-miR-26b	CLIP-seq
MIRT2427489	hsa-miR-298	CLIP-seq
MIRT1546830	hsa-miR-29a	CLIP-seq
MIRT1546831	hsa-miR-29b	CLIP-seq
MIRT1546832	hsa-miR-29c	CLIP-seq
MIRT1546833	hsa-miR-300	CLIP-seq
MIRT1546834	hsa-miR-3065-3p	CLIP-seq
MIRT1546835	hsa-miR-3120-5p	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546838	hsa-miR-3148	CLIP-seq
MIRT1546840	hsa-miR-3153	CLIP-seq
MIRT1546841	hsa-miR-3182	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546844	hsa-miR-3194-3p	CLIP-seq
MIRT1546845	hsa-miR-32	CLIP-seq
MIRT902716	hsa-miR-3200-5p	CLIP-seq
MIRT1546846	hsa-miR-3202	CLIP-seq
MIRT1546847	hsa-miR-342-3p	CLIP-seq
MIRT1546848	hsa-miR-363	CLIP-seq
MIRT1546849	hsa-miR-3647-3p	CLIP-seq
MIRT1546850	hsa-miR-3659	CLIP-seq
MIRT1546851	hsa-miR-3662	CLIP-seq
MIRT1546852	hsa-miR-367	CLIP-seq
MIRT902717	hsa-miR-3671	CLIP-seq
MIRT1546854	hsa-miR-3688-3p	CLIP-seq
MIRT1546855	hsa-miR-3691-5p	CLIP-seq
MIRT1546856	hsa-miR-371-5p	CLIP-seq
MIRT1546857	hsa-miR-371b-5p	CLIP-seq
MIRT1546858	hsa-miR-381	CLIP-seq
MIRT1546859	hsa-miR-3934	CLIP-seq
MIRT1546860	hsa-miR-3940-5p	CLIP-seq
MIRT2427490	hsa-miR-3944-5p	CLIP-seq
MIRT2427491	hsa-miR-3978	CLIP-seq
MIRT902718	hsa-miR-4260	CLIP-seq
MIRT1546861	hsa-miR-4272	CLIP-seq
MIRT1546862	hsa-miR-4277	CLIP-seq
MIRT902719	hsa-miR-4311	CLIP-seq
MIRT1546863	hsa-miR-4327	CLIP-seq
MIRT1546864	hsa-miR-4426	CLIP-seq
MIRT2427492	hsa-miR-4433	CLIP-seq
MIRT1546865	hsa-miR-4458	CLIP-seq
MIRT1546867	hsa-miR-4465	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT1546869	hsa-miR-4491	CLIP-seq
MIRT1546870	hsa-miR-4500	CLIP-seq
MIRT1546871	hsa-miR-4503	CLIP-seq
MIRT1546872	hsa-miR-4507	CLIP-seq
MIRT902720	hsa-miR-4517	CLIP-seq
MIRT1546873	hsa-miR-4647	CLIP-seq
MIRT1546874	hsa-miR-4657	CLIP-seq
MIRT1546875	hsa-miR-4659a-3p	CLIP-seq
MIRT1546876	hsa-miR-4659b-3p	CLIP-seq
MIRT1546877	hsa-miR-4662b	CLIP-seq
MIRT1546878	hsa-miR-4666-3p	CLIP-seq
MIRT1546879	hsa-miR-4668-5p	CLIP-seq
MIRT2427493	hsa-miR-4677-5p	CLIP-seq
MIRT1546880	hsa-miR-4694-3p	CLIP-seq
MIRT2427494	hsa-miR-4699-5p	CLIP-seq
MIRT1546881	hsa-miR-4700-3p	CLIP-seq
MIRT2427495	hsa-miR-4728-3p	CLIP-seq
MIRT1546882	hsa-miR-4738-3p	CLIP-seq
MIRT1546883	hsa-miR-4742-3p	CLIP-seq
MIRT1546884	hsa-miR-4752	CLIP-seq
MIRT1546885	hsa-miR-4753-3p	CLIP-seq
MIRT1546886	hsa-miR-4760-5p	CLIP-seq
MIRT902721	hsa-miR-4766-5p	CLIP-seq
MIRT1546887	hsa-miR-4768-5p	CLIP-seq
MIRT1546888	hsa-miR-4775	CLIP-seq
MIRT2427496	hsa-miR-496	CLIP-seq
MIRT1546890	hsa-miR-500a	CLIP-seq
MIRT902722	hsa-miR-5096	CLIP-seq
MIRT902723	hsa-miR-513a-3p	CLIP-seq
MIRT902724	hsa-miR-513b	CLIP-seq
MIRT1546891	hsa-miR-513c	CLIP-seq
MIRT1546892	hsa-miR-514b-5p	CLIP-seq
MIRT1546893	hsa-miR-543	CLIP-seq
MIRT1546894	hsa-miR-544	CLIP-seq
MIRT2427497	hsa-miR-548aa	CLIP-seq
MIRT1546895	hsa-miR-548g	CLIP-seq
MIRT1546896	hsa-miR-552	CLIP-seq
MIRT902725	hsa-miR-561	CLIP-seq
MIRT1546898	hsa-miR-576-3p	CLIP-seq
MIRT902726	hsa-miR-579	CLIP-seq
MIRT1546899	hsa-miR-584	CLIP-seq
MIRT1546900	hsa-miR-587	CLIP-seq
MIRT1546901	hsa-miR-590-3p	CLIP-seq
MIRT902727	hsa-miR-607	CLIP-seq
MIRT902728	hsa-miR-625	CLIP-seq
MIRT1546902	hsa-miR-629	CLIP-seq
MIRT1546903	hsa-miR-642a	CLIP-seq
MIRT1546904	hsa-miR-653	CLIP-seq
MIRT2427498	hsa-miR-659	CLIP-seq
MIRT1546905	hsa-miR-7	CLIP-seq
MIRT1546906	hsa-miR-767-5p	CLIP-seq
MIRT1546907	hsa-miR-92a	CLIP-seq
MIRT1546908	hsa-miR-92b	CLIP-seq
MIRT1546909	hsa-miR-935	CLIP-seq
MIRT902729	hsa-miR-939	CLIP-seq
MIRT1546910	hsa-miR-942	CLIP-seq
MIRT1546911	hsa-miR-98	CLIP-seq
MIRT1546809	hsa-let-7a	CLIP-seq
MIRT1546810	hsa-let-7b	CLIP-seq
MIRT1546811	hsa-let-7c	CLIP-seq
MIRT1546812	hsa-let-7d	CLIP-seq
MIRT1546813	hsa-let-7e	CLIP-seq
MIRT1546814	hsa-let-7f	CLIP-seq
MIRT1546815	hsa-let-7g	CLIP-seq
MIRT1546816	hsa-let-7i	CLIP-seq
MIRT2427487	hsa-miR-105	CLIP-seq
MIRT1546817	hsa-miR-1237	CLIP-seq
MIRT1546818	hsa-miR-1248	CLIP-seq
MIRT1546819	hsa-miR-1297	CLIP-seq
MIRT1546820	hsa-miR-1304	CLIP-seq
MIRT1546821	hsa-miR-196a	CLIP-seq
MIRT1546822	hsa-miR-196b	CLIP-seq
MIRT1546823	hsa-miR-19a	CLIP-seq
MIRT1546824	hsa-miR-19b	CLIP-seq
MIRT1546825	hsa-miR-202	CLIP-seq
MIRT1546826	hsa-miR-2052	CLIP-seq
MIRT1546827	hsa-miR-25	CLIP-seq
MIRT1546828	hsa-miR-26a	CLIP-seq
MIRT1546829	hsa-miR-26b	CLIP-seq
MIRT1546830	hsa-miR-29a	CLIP-seq
MIRT1546831	hsa-miR-29b	CLIP-seq
MIRT1546832	hsa-miR-29c	CLIP-seq
MIRT1546834	hsa-miR-3065-3p	CLIP-seq
MIRT1546835	hsa-miR-3120-5p	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546839	hsa-miR-3149	CLIP-seq
MIRT1546840	hsa-miR-3153	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546844	hsa-miR-3194-3p	CLIP-seq
MIRT1546845	hsa-miR-32	CLIP-seq
MIRT902716	hsa-miR-3200-5p	CLIP-seq
MIRT1546848	hsa-miR-363	CLIP-seq
MIRT1546852	hsa-miR-367	CLIP-seq
MIRT1546855	hsa-miR-3691-5p	CLIP-seq
MIRT1546856	hsa-miR-371-5p	CLIP-seq
MIRT1546857	hsa-miR-371b-5p	CLIP-seq
MIRT1546860	hsa-miR-3940-5p	CLIP-seq
MIRT1546861	hsa-miR-4272	CLIP-seq
MIRT1546862	hsa-miR-4277	CLIP-seq
MIRT2427492	hsa-miR-4433	CLIP-seq
MIRT1546865	hsa-miR-4458	CLIP-seq
MIRT1546867	hsa-miR-4465	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT1546869	hsa-miR-4491	CLIP-seq
MIRT1546870	hsa-miR-4500	CLIP-seq
MIRT1546871	hsa-miR-4503	CLIP-seq
MIRT1546872	hsa-miR-4507	CLIP-seq
MIRT1546874	hsa-miR-4657	CLIP-seq
MIRT1546875	hsa-miR-4659a-3p	CLIP-seq
MIRT1546876	hsa-miR-4659b-3p	CLIP-seq
MIRT1546879	hsa-miR-4668-5p	CLIP-seq
MIRT2427494	hsa-miR-4699-5p	CLIP-seq
MIRT1546881	hsa-miR-4700-3p	CLIP-seq
MIRT2427495	hsa-miR-4728-3p	CLIP-seq
MIRT1546882	hsa-miR-4738-3p	CLIP-seq
MIRT1546883	hsa-miR-4742-3p	CLIP-seq
MIRT1546884	hsa-miR-4752	CLIP-seq
MIRT1546885	hsa-miR-4753-3p	CLIP-seq
MIRT902721	hsa-miR-4766-5p	CLIP-seq
MIRT1546887	hsa-miR-4768-5p	CLIP-seq
MIRT2427496	hsa-miR-496	CLIP-seq
MIRT1546890	hsa-miR-500a	CLIP-seq
MIRT1546891	hsa-miR-513c	CLIP-seq
MIRT1546892	hsa-miR-514b-5p	CLIP-seq
MIRT1546893	hsa-miR-543	CLIP-seq
MIRT1546895	hsa-miR-548g	CLIP-seq
MIRT1546902	hsa-miR-629	CLIP-seq
MIRT1546903	hsa-miR-642a	CLIP-seq
MIRT1546905	hsa-miR-7	CLIP-seq
MIRT1546906	hsa-miR-767-5p	CLIP-seq
MIRT1546907	hsa-miR-92a	CLIP-seq
MIRT1546908	hsa-miR-92b	CLIP-seq
MIRT1546910	hsa-miR-942	CLIP-seq
MIRT1546911	hsa-miR-98	CLIP-seq
MIRT2427487	hsa-miR-105	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT2427495	hsa-miR-4728-3p	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546849	hsa-miR-3647-3p	CLIP-seq
MIRT1546851	hsa-miR-3662	CLIP-seq
MIRT1546853	hsa-miR-3672	CLIP-seq
MIRT1546866	hsa-miR-4463	CLIP-seq
MIRT1546905	hsa-miR-7	CLIP-seq
MIRT1546809	hsa-let-7a	CLIP-seq
MIRT1546810	hsa-let-7b	CLIP-seq
MIRT1546811	hsa-let-7c	CLIP-seq
MIRT1546812	hsa-let-7d	CLIP-seq
MIRT1546813	hsa-let-7e	CLIP-seq
MIRT1546814	hsa-let-7f	CLIP-seq
MIRT1546815	hsa-let-7g	CLIP-seq
MIRT1546816	hsa-let-7i	CLIP-seq
MIRT2427487	hsa-miR-105	CLIP-seq
MIRT1546817	hsa-miR-1237	CLIP-seq
MIRT1546818	hsa-miR-1248	CLIP-seq
MIRT1546820	hsa-miR-1304	CLIP-seq
MIRT902715	hsa-miR-1305	CLIP-seq
MIRT1546821	hsa-miR-196a	CLIP-seq
MIRT1546822	hsa-miR-196b	CLIP-seq
MIRT1546823	hsa-miR-19a	CLIP-seq
MIRT1546824	hsa-miR-19b	CLIP-seq
MIRT1546825	hsa-miR-202	CLIP-seq
MIRT1546826	hsa-miR-2052	CLIP-seq
MIRT1546827	hsa-miR-25	CLIP-seq
MIRT2427489	hsa-miR-298	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546840	hsa-miR-3153	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546843	hsa-miR-3190	CLIP-seq
MIRT1546844	hsa-miR-3194-3p	CLIP-seq
MIRT1546845	hsa-miR-32	CLIP-seq
MIRT1546846	hsa-miR-3202	CLIP-seq
MIRT1546848	hsa-miR-363	CLIP-seq
MIRT1546850	hsa-miR-3659	CLIP-seq
MIRT1546852	hsa-miR-367	CLIP-seq
MIRT902717	hsa-miR-3671	CLIP-seq
MIRT1546859	hsa-miR-3934	CLIP-seq
MIRT1546860	hsa-miR-3940-5p	CLIP-seq
MIRT2427490	hsa-miR-3944-5p	CLIP-seq
MIRT902718	hsa-miR-4260	CLIP-seq
MIRT1546861	hsa-miR-4272	CLIP-seq
MIRT902719	hsa-miR-4311	CLIP-seq
MIRT1546865	hsa-miR-4458	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT1546870	hsa-miR-4500	CLIP-seq
MIRT1546871	hsa-miR-4503	CLIP-seq
MIRT1546872	hsa-miR-4507	CLIP-seq
MIRT1546879	hsa-miR-4668-5p	CLIP-seq
MIRT1546880	hsa-miR-4694-3p	CLIP-seq
MIRT2427494	hsa-miR-4699-5p	CLIP-seq
MIRT2427495	hsa-miR-4728-3p	CLIP-seq
MIRT1546882	hsa-miR-4738-3p	CLIP-seq
MIRT1546883	hsa-miR-4742-3p	CLIP-seq
MIRT1546885	hsa-miR-4753-3p	CLIP-seq
MIRT1546887	hsa-miR-4768-5p	CLIP-seq
MIRT1546890	hsa-miR-500a	CLIP-seq
MIRT902723	hsa-miR-513a-3p	CLIP-seq
MIRT1546895	hsa-miR-548g	CLIP-seq
MIRT1546896	hsa-miR-552	CLIP-seq
MIRT902725	hsa-miR-561	CLIP-seq
MIRT1546898	hsa-miR-576-3p	CLIP-seq
MIRT1546900	hsa-miR-587	CLIP-seq
MIRT902727	hsa-miR-607	CLIP-seq
MIRT902728	hsa-miR-625	CLIP-seq
MIRT1546902	hsa-miR-629	CLIP-seq
MIRT1546903	hsa-miR-642a	CLIP-seq
MIRT1546904	hsa-miR-653	CLIP-seq
MIRT1546905	hsa-miR-7	CLIP-seq
MIRT1546907	hsa-miR-92a	CLIP-seq
MIRT1546908	hsa-miR-92b	CLIP-seq
MIRT1546909	hsa-miR-935	CLIP-seq
MIRT902729	hsa-miR-939	CLIP-seq
MIRT1546911	hsa-miR-98	CLIP-seq
MIRT2427487	hsa-miR-105	CLIP-seq
MIRT1546817	hsa-miR-1237	CLIP-seq
MIRT1546818	hsa-miR-1248	CLIP-seq
MIRT902715	hsa-miR-1305	CLIP-seq
MIRT1546827	hsa-miR-25	CLIP-seq
MIRT2427489	hsa-miR-298	CLIP-seq
MIRT1546837	hsa-miR-3133	CLIP-seq
MIRT1546842	hsa-miR-3185	CLIP-seq
MIRT1546844	hsa-miR-3194-3p	CLIP-seq
MIRT1546845	hsa-miR-32	CLIP-seq
MIRT1546846	hsa-miR-3202	CLIP-seq
MIRT1546848	hsa-miR-363	CLIP-seq
MIRT1546850	hsa-miR-3659	CLIP-seq
MIRT1546852	hsa-miR-367	CLIP-seq
MIRT902717	hsa-miR-3671	CLIP-seq
MIRT1546859	hsa-miR-3934	CLIP-seq
MIRT2427490	hsa-miR-3944-5p	CLIP-seq
MIRT902718	hsa-miR-4260	CLIP-seq
MIRT902719	hsa-miR-4311	CLIP-seq
MIRT1546868	hsa-miR-4470	CLIP-seq
MIRT1546871	hsa-miR-4503	CLIP-seq
MIRT1546880	hsa-miR-4694-3p	CLIP-seq
MIRT2427494	hsa-miR-4699-5p	CLIP-seq
MIRT2427495	hsa-miR-4728-3p	CLIP-seq
MIRT1546882	hsa-miR-4738-3p	CLIP-seq
MIRT1546883	hsa-miR-4742-3p	CLIP-seq
MIRT1546885	hsa-miR-4753-3p	CLIP-seq
MIRT1546887	hsa-miR-4768-5p	CLIP-seq
MIRT1546890	hsa-miR-500a	CLIP-seq
MIRT902723	hsa-miR-513a-3p	CLIP-seq
MIRT1546895	hsa-miR-548g	CLIP-seq
MIRT1546896	hsa-miR-552	CLIP-seq
MIRT902725	hsa-miR-561	CLIP-seq
MIRT1546898	hsa-miR-576-3p	CLIP-seq
MIRT1546900	hsa-miR-587	CLIP-seq
MIRT902727	hsa-miR-607	CLIP-seq
MIRT902728	hsa-miR-625	CLIP-seq
MIRT1546904	hsa-miR-653	CLIP-seq
MIRT1546907	hsa-miR-92a	CLIP-seq
MIRT1546908	hsa-miR-92b	CLIP-seq
MIRT1546909	hsa-miR-935	CLIP-seq
MIRT902729	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPZ	Unknown	8910550
CIITA	Repression	16439692
CIITA	Unknown	15247294
EP300	Unknown	24058639
FLI1	Repression	24058639
HDAC1	Activation	16464847
HDAC1	Unknown	24058639
HDAC2	Repression	16464847
KLF11	Unknown	24069400
MYB	Activation	9989795
NFKB1	Repression	10201951
RELA	Repression	10201951
RFX1	Activation	16464847
RFX5	Repression	16464847;23079621
SIRT1	Repression	23079621
STAT6	Activation	14603527
YY1	Unknown	8910550

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	8841196, 17955022, 18375391
GO:0001568	Process	Blood vessel development	IMP	17211858
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	8982144
GO:0005515	Function	Protein binding	IPI	18375391, 25416956, 26848503, 26871637, 32095531, 32296183
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:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005584	Component	Collagen type I trimer	IBA
GO:0005584	Component	Collagen type I trimer	IDA	18375391, 19932771
GO:0005584	Component	Collagen type I trimer	IEA
GO:0005584	Component	Collagen type I trimer	IMP	17955022
GO:0005584	Component	Collagen type I trimer	IPI	26848503
GO:0005584	Component	Collagen type I trimer	TAS	6267597
GO:0005615	Component	Extracellular space	IDA	18375391
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	17217948
GO:0007266	Process	Rho protein signal transduction	IDA	17217948
GO:0008217	Process	Regulation of blood pressure	IMP	17334644
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	17211858, 18375391
GO:0030199	Process	Collagen fibril organization	NAS	1916105
GO:0030282	Process	Bone mineralization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	18375391
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:0032963	Process	Collagen metabolic process	IEA
GO:0042476	Process	Odontogenesis	NAS	1740554
GO:0042802	Function	Identical protein binding	IDA	17211858
GO:0043589	Process	Skin morphogenesis	IMP	17211858
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048513	Process	Animal organ development	IEA
GO:0070062	Component	Extracellular exosome	HDA	21362503
GO:0070208	Process	Protein heterotrimerization	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA

Other IDs

• MIM: 120160
• HGNC: 2198
• e!Ensembl: ENSG00000164692

Protein

• UniProt ID: P08123
• Protein name: Collagen alpha-2(I) chain (Alpha-2 type I collagen)
• Protein function: Type I collagen is a member of group I collagen (fibrillar forming collagen).
• PDB: 5CTD, 5CTI, 5CVA, 6JEC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	29 → 82	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	88 → 150	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	130 → 207	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	460 → 529	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	601 → 665	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1045 → 1114	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1131 → 1365	Fibrillar collagen C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
• Sequence:

  MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG
  PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP
  GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR
  GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
  GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
  GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK
  GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
  GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
  GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ
  GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
  GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP
  GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
  GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG
  GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
  GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
  GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
  GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP
  GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR
  GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK
  SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
  ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
  ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
  TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK

• Sequence length: 1366

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Platelet activation
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Proteoglycans in cancer
Diabetic cardiomyopathy

Reactome:

GPVI-mediated activation cascade
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Cell surface interactions at the vascular wall
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Non-integrin membrane-ECM interactions
ECM proteoglycans
GP1b-IX-V activation signalling
Interleukin-4 and Interleukin-13 signaling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
MET activates PTK2 signaling
Collagen chain trimerization

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	Pathogenic	rs72656362	RCV000018796
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs1554395833, rs1054264002	RCV001836846 RCV001814270
Bruck syndrome 1	Likely pathogenic	rs794727669	RCV002469046
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs749621872, rs193922168, rs2484702812, rs1114167416, rs72656387, rs72658129, rs1410254723, rs1054264002, rs68063264	RCV002438886 RCV002325721 RCV005323577 RCV002446951 RCV005540011 RCV006276142 RCV004992415 RCV002375009 RCV002451621
COL1A2-related disorder	Likely pathogenic; Pathogenic	rs749621872, rs72659304, rs2115954840, rs72656386, rs72656378, rs2115921279, rs1381927942, rs2115959456, rs2484725715, rs2115941300, rs2484729533, rs2484737562, rs2484724068, rs72658158, rs2484708250, rs2484737558, rs2484710174, rs2484734879, rs72656355, rs1064794058, rs67865220, rs67707918, rs1057524873, rs72656387, rs66612022, rs72656363, rs1410254723, rs1791962073	RCV004743444 RCV005867215 RCV003416459 RCV003401970 RCV003418259 RCV003408186 RCV004725509 RCV003410347 RCV003901014 RCV003402874 RCV003412445 RCV003402326 RCV003410895 RCV003420903 RCV003429092 RCV003393135 RCV003896962 RCV003894500 RCV004742229 RCV004545772 RCV004535542 RCV004742449 RCV004742483 RCV004742233 RCV005869592 RCV004545791 RCV004527693 RCV004727077
Collagen type 1 disorder	Likely pathogenic; Pathogenic	rs72658147	RCV003405207
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	Likely pathogenic; Pathogenic	rs2115969692, rs2115962248, rs67180473, rs72656370, rs1554395431, rs1584315950, rs72656364, rs72659324, rs1114167416, rs72656387, rs72656363, rs72658129, rs72656389, rs1791756559	RCV002291005 RCV002290832 RCV002244114 RCV004596152 RCV005871305 RCV003988694 RCV000018810 RCV000018818 RCV001270303 RCV002288521 RCV004546528 RCV002289909 RCV006270442 RCV001270302
Dentinogenesis imperfecta	Pathogenic; Likely pathogenic	rs72659332, rs67707918, rs66883877	RCV001779169 RCV001778978 RCV000662309
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs72659306, rs2115877489, rs1305819869, rs1064794058, rs67398234, rs72656355, rs67162110, rs67865220, rs1410254723, rs1792298693, rs1792044352	RCV002276905 RCV002277783 RCV002277978 RCV003479810 RCV002276560 RCV002276561 RCV002276562 RCV003987562 RCV003323646 RCV002298860 RCV003399010
Ehlers-Danlos syndrome, arthrochalasia type	Likely pathogenic; Pathogenic	rs749621872	RCV002508960
Ehlers-Danlos syndrome, arthrochalasia type, 2	Likely pathogenic; Pathogenic	rs1792148801, rs749621872, rs2115917238, rs2115931844, rs72659306, rs2115962248, rs2115924490, rs72656402, rs72659319, rs72656357, rs67398234, rs66820119, rs72656355, rs72658185, rs67865220, rs67525025, rs72656387, rs72656356, rs72656363, rs1562906013, rs1584320605	RCV001333194 RCV005408883 RCV001775432 RCV001808961 RCV005860264 RCV005254010 RCV002244130 RCV003989790 RCV004813077 RCV000018773 RCV000018791 RCV000018797 RCV000018811 RCV003988847 RCV003989538 RCV005860093 RCV003989302 RCV000018774 RCV005055366 RCV000791088 RCV000850502
Ehlers-Danlos syndrome, cardiac valvular type	Likely pathogenic; Pathogenic	rs749621872, rs775246283, rs2484727900, rs72656367, rs67162110, rs72656354, rs72659343, rs797044459, rs66612022, rs1584320605	RCV002508960 RCV005238003 RCV003330256 RCV000018814 RCV000018815 RCV000018816 RCV000018817 RCV000018820 RCV000018821 RCV001836645 RCV000850502
Ehlers-Danlos syndrome, classic type	Pathogenic; Likely pathogenic	rs67865220, rs1554395471, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1791913210, rs72658140, rs72659303, rs72658174, rs1792308325, rs1792043985	RCV000987924 RCV000548758 RCV000987921 RCV000987922 RCV000987923 RCV000987926 RCV000987927 RCV001066906 RCV001065085 RCV001036610 RCV001203350 RCV001202983 RCV001240952
Ehlers-Danlos syndrome, classic type, 1	Likely pathogenic; Pathogenic	rs1792148801, rs2115875189, rs1584318303, rs2115902837, rs2115946426, rs2115957747, rs67675951, rs67210352, rs66773001, rs72658152, rs72658174, rs72658190, rs749621872, rs780395429, rs72659332, rs2115890442, rs72658173, rs72658141, rs72658168, rs72659306, rs2115927860, rs72658145, rs2115917306, rs72658185, rs2115879081, rs2115894285, rs2115917059, rs2115933783, rs2115962258, rs2115896730, rs72656377, rs1584324507, rs2115933691, rs764355552, rs2115959866, rs1173518955, rs768263997, rs2115959926, rs2115940948, rs2115953343, rs2115874899, rs2115936945, rs1791771616, rs2115969692, rs1321582299, rs2115959456, rs2115941022, rs72658179, rs72656381, rs2115893133, rs72658142, rs2115881240, rs2115875700, rs66516450, rs72656386, rs752431578, rs2115921786, rs72656378, rs66999265, rs2115924495, rs2115962248, rs2115941689, rs72659304, rs121912907, rs72658120, rs2115957255, rs193922162, rs2115959912, rs906553840, rs2484737405, rs2115917195, rs2115921275, rs1305819869, rs72656387, rs2484743799, rs886042129, rs72656358, rs72656365, rs72656370, rs2484702812, rs67865220, rs68132885, rs72658121, rs72658126, rs2484716774, rs2484725181, rs2484729358, rs72659310, rs67609234, rs2484731890, rs1381927942, rs72658196, rs794727470, rs1443518475, rs2484707689, rs140194114, rs1792149902, rs1057517953, rs72656395, rs2484719924, rs1584319922, rs2484699591, rs72656402, rs2484705943, rs2484713607, rs2484708037, rs1562905085, rs2484726571, rs2484722826, rs72659337, rs1114167418, rs2484700598, rs2484700140, rs72659319, rs2484709149, rs2484734370, rs2484716719, rs2484699587, rs2484737368, rs2484736269, rs2484722803, rs2484708287, rs2484707621, rs72659342, rs1791759246, rs1064794058, rs2484713609, rs2484701546, rs2484701452, rs2484702701, rs72658180, rs2484700675, rs72656369, rs2484708228, rs72658105, rs72658113, rs72658134, rs2115917320, rs72658187, rs68063264, rs1554395431, rs775246283, rs1791847482, rs2484713570, rs72658197, rs1791755938, rs2484708328, rs2484714527, rs1792259695, rs2484725490, rs2484733399, rs779887555, rs2484735314, rs2484700107, rs2484721766, rs111662392, rs2484705722, rs72656400, rs2484719766, rs72659336, rs747369521, rs2484723993, rs2484699831, rs2484714503, rs2484700681, rs2484705896, rs2484707979, rs2484719729, rs1792147522, rs2484724027, rs2484734879, rs72656357, rs74315146, rs121912905, rs72658200, rs121912910, rs72658176, rs72656364, rs72656355, rs121912912, rs928361235, rs1057524847, rs1064796419, rs1114167417, rs67707918, rs72658119, rs72658143, rs1131692167, rs67525025, rs1554396083, rs72658182, rs72658104, rs72658189, rs72658154, rs193922173, rs1554396680, rs1554396983, rs1554398261, rs72656360, rs1554396612, rs1554396679, rs72658198, rs1554398251, rs72659335, rs72656356, rs1554395411, rs72656392, rs66612022, rs66619856, rs72658164, rs1554395970, rs72656390, rs1554396615, rs1554397275, rs1554395833, rs72658177, rs72656363, rs72658129, rs1554398396, rs1410254723, rs1554396361, rs1554396832, rs1554397975, rs72658118, rs66883877, rs72656375, rs1554396271, rs1562905246, rs1562899031, rs1562900513, rs67543427, rs72658194, rs760626067, rs1554395471, rs1562907190, rs72659325, rs67768540, rs72658108, rs72656394, rs72659312, rs1562907287, rs1584315950, rs1584320605, rs72658160, rs1584326393, rs72659340, rs1584328061, rs72656389, rs1584319045, rs1791793058, rs72658112, rs1791941199, rs72658171, rs1792149726, rs763053421, rs1792256171, rs1792298693, rs1792353123, rs1054264002, rs1791894410, rs72656385, rs1791858238, rs1791793398, rs1791952936, rs72659327, rs1554398835, rs1791759301, rs1792108068, rs72659308, rs1792140624, rs1792269292, rs1792044352, rs1792139807, rs1792257312, rs1791962073	RCV002546615 RCV002242784 RCV002242774 RCV002242770 RCV002242879 RCV002242779 RCV002242820 RCV002242821 RCV002242822 RCV002242823 RCV002242992 RCV002242851 RCV002242882 RCV002242803 RCV001882531 RCV003771724 RCV001882741 RCV001866248 RCV003772048 RCV002543291 RCV002024171 RCV001990385 RCV001969058 RCV001993591 RCV001961344 RCV002019618 RCV001933055 RCV001898068 RCV002028595 RCV002031537 RCV001969229 RCV001958562 RCV001970920 RCV001953739 RCV001891127 RCV001982827 RCV001977185 RCV001942831 RCV001973919 RCV001932458 RCV001901796 RCV001969697 RCV001998278 RCV002047662 RCV001993149 RCV001922511 RCV002007427 RCV001993390 RCV002016120 RCV001941895 RCV001895736 RCV001951134 RCV001972387 RCV002003093 RCV001920858 RCV001953547 RCV001972528 RCV001953550 RCV001953647 RCV002046789 RCV002046893 RCV001941280 RCV001959021 RCV001975235 RCV001959025 RCV002010354 RCV001956522 RCV001958727 RCV001915570 RCV001914173 RCV001973639 RCV002033708 RCV001886325 RCV003774692 RCV003101515 RCV003096230 RCV003774894 RCV003774904 RCV003097730 RCV005227575 RCV002571441 RCV003037237 RCV003060124 RCV003037238 RCV003060125 RCV003037240 RCV003060126 RCV003060127 RCV003037241 RCV003060129 RCV003060131 RCV003037242 RCV003037243 RCV003037244 RCV003079083 RCV003074955 RCV003084870 RCV002516717 RCV002574771 RCV002570268 RCV002617099 RCV002785490 RCV002801427 RCV002819082 RCV002816113 RCV002842191 RCV002842322 RCV002852812 RCV002889570 RCV002880620 RCV002852220 RCV002857971 RCV002853015 RCV002862767 RCV002894768 RCV002867714 RCV002885938 RCV002889970 RCV002872403 RCV002918351 RCV002949060 RCV002229497 RCV003004959 RCV003018511 RCV003010411 RCV003034515 RCV003027432 RCV003052286 RCV003778689 RCV003778824 RCV002229832 RCV003779835 RCV003777283 RCV005227988 RCV005220714 RCV005216124 RCV003785493 RCV003783831 RCV003782167 RCV003782828 RCV003783314 RCV003781055 RCV003781056 RCV003781057 RCV003781058 RCV003781059 RCV003781060 RCV003781061 RCV003781063 RCV003781064 RCV003781065 RCV003781066 RCV003781067 RCV003781069 RCV003779487 RCV003782595 RCV003787806 RCV003787875 RCV003788021 RCV003793988 RCV003806104 RCV003806162 RCV003806684 RCV003799542 RCV003805621 RCV003805746 RCV003805924 RCV003806003 RCV003790711 RCV003801048 RCV003801059 RCV003803655 RCV003795040 RCV003802706 RCV003800404 RCV003800789 RCV003808735 RCV003808737 RCV003808883 RCV003810104 RCV003802347 RCV003809736 RCV003807504 RCV003807585 RCV003805049 RCV003812311 RCV003810387 RCV005220791 RCV002228037 RCV003764608 RCV005222692 RCV005222693 RCV002513109 RCV002228039 RCV003764609 RCV002228040 RCV002228041 RCV001861415 RCV002230748 RCV002230081 RCV005222957 RCV003766718 RCV002230922 RCV002527011 RCV001851298 RCV003766738 RCV002230967 RCV002230964 RCV002230965 RCV003766737 RCV005222965 RCV002230966 RCV002231121 RCV003766785 RCV002231188 RCV002231000 RCV003766918 RCV002231211 RCV001858003 RCV002525213 RCV002231208 RCV002513242 RCV003764639 RCV002228065 RCV002231229 RCV002231231 RCV002231239 RCV002231244 RCV002231009 RCV002231010 RCV002231014 RCV002231237 RCV002231241 RCV002231016 RCV002231242 RCV002231026 RCV002231248 RCV002231005 RCV002231011 RCV002231024 RCV002231025 RCV002231228 RCV002231232 RCV005223022 RCV002232561 RCV002232565 RCV002232602 RCV001868144 RCV002233933 RCV002234404 RCV002233928 RCV002234409 RCV002233931 RCV002234412 RCV002234410 RCV001861725 RCV002233686 RCV002233226 RCV002233545 RCV002233541 RCV002232840 RCV002233375 RCV002232871 RCV002232963 RCV002233416 RCV002232982 RCV002233636 RCV001861953 RCV005223133 RCV002535437 RCV002233745 RCV002233746 RCV005225113 RCV002533908 RCV002235124 RCV002235296 RCV002234750 RCV002234320 RCV002235563 RCV002235432 RCV002234258 RCV002233867 RCV002235573 RCV002233827 RCV002536188 RCV005213417 RCV002239315 RCV002239314 RCV002240331 RCV002240378 RCV002240166 RCV002240267 RCV002239310 RCV002239349 RCV002239383 RCV002240622 RCV002240229 RCV002240207 RCV002240406 RCV002240729 RCV003769010 RCV005213454 RCV001873587 RCV005213505 RCV002241151 RCV002241147 RCV002241275 RCV002241231 RCV002241257 RCV002241395 RCV002240935 RCV002240948 RCV002241076 RCV002241409 RCV002241155 RCV002241451 RCV002241594 RCV002241536 RCV002241549 RCV002241786 RCV002542860 RCV003770450
Familial cancer of breast	Likely pathogenic; Pathogenic	rs67162110	RCV005887562
Increased susceptibility to fractures	Pathogenic	rs72656387	RCV002255121
Multiple prenatal fractures	Pathogenic	rs1057518967	RCV000415158
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs67210352, rs749621872, rs72658173, rs2115931969, rs2115954840, rs2115898280, rs67707918, rs121912906, rs72658122, rs2115917195, rs2115921275, rs72658178, rs72658185, rs2115937116, rs2115877489, rs1188265845, rs2484716722, rs72659319, rs2115932392, rs2484734805, rs72658183, rs2484702812, rs72658200, rs1064794058, rs67865220, rs72658143, rs72658150, rs67609234, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs72656392, rs66612022, rs1554395471, rs1554397369, rs72656375, rs72658193, rs1562906570, rs72659305, rs72656394, rs1562906013, rs1584316181, rs1584318953, rs1131692167, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs1791793398, rs1554396615	RCV002225133 RCV002508960 RCV002222719 RCV001794519 RCV001795872 RCV002277099 RCV005626617 RCV002277774 RCV002277775 RCV002277776 RCV002277777 RCV002277779 RCV002277780 RCV002277781 RCV002277782 RCV002277784 RCV002512499 RCV000722167 RCV003128181 RCV003128182 RCV003327332 RCV004787014 RCV003226163 RCV001260277 RCV002279242 RCV002279258 RCV002279259 RCV001849383 RCV002279260 RCV005235355 RCV000029594 RCV000029595 RCV000029602 RCV000029603 RCV000029611 RCV000029613 RCV000029614 RCV001813787 RCV003448980 RCV005625671 RCV000587868 RCV001526530 RCV000722165 RCV000722168 RCV000722166 RCV001374625 RCV000791086 RCV000991267 RCV000991266 RCV000991263 RCV000991262 RCV000991264 RCV000991265 RCV000991261 RCV001260280 RCV001260279 RCV001260281 RCV001260278 RCV005626348 RCV002276665
Osteogenesis imperfecta type I	Likely pathogenic; Pathogenic	rs72656376, rs1584318648, rs1792148801, rs2115875189, rs1584318303, rs2115902837, rs2115946426, rs2115957747, rs67675951, rs67210352, rs66773001, rs72658152, rs72658174, rs72658190, rs749621872, rs780395429, rs72659332, rs2115890442, rs72658173, rs72658141, rs72658168, rs72659306, rs2115927860, rs72658145, rs2115917306, rs72658185, rs2115879081, rs2115894285, rs2115917059, rs2115933783, rs2115962258, rs2115896730, rs72656377, rs1584324507, rs2115933691, rs764355552, rs2115959866, rs1173518955, rs768263997, rs2115959926, rs2115940948, rs2115953343, rs2115874899, rs2115936945, rs1791771616, rs2115969692, rs1321582299, rs2115959456, rs2115941022, rs72658179, rs72656381, rs2115893133, rs72658142, rs2115881240, rs2115875700, rs66516450, rs72656386, rs752431578, rs2115921786, rs72656378, rs66999265, rs2115924495, rs2115962248, rs2115941689, rs72659304, rs121912907, rs72658120, rs2115957255, rs193922162, rs2115959912, rs906553840, rs2484737405, rs2115917195, rs2115921275, rs1305819869, rs72656387, rs2484743799, rs1085307477, rs886042129, rs2484707686, rs866589638, rs1329724571, rs72656358, rs72656365, rs72656370, rs2484702812, rs67865220, rs68132885, rs72658121, rs72658126, rs2484716774, rs2484725181, rs2484729358, rs72659310, rs67609234, rs2484731890, rs1381927942, rs72658196, rs794727470, rs1443518475, rs2484707689, rs140194114, rs1792149902, rs1057517953, rs72656395, rs2484719924, rs1584319922, rs2484699591, rs72656402, rs2484705943, rs2484713607, rs2484708037, rs1562905085, rs2484726571, rs2484722826, rs72659337, rs1114167418, rs2484700598, rs2484700140, rs72659319, rs2484709149, rs2484734370, rs2484716719, rs2484699587, rs2484737368, rs2484736269, rs2484722803, rs2484708287, rs2484707621, rs72659342, rs2484725715, rs1791759246, rs1064794058, rs2484713609, rs2484701546, rs2484701452, rs2484702701, rs72658180, rs2484700675, rs72656369, rs2484708228, rs72658105, rs72658113, rs72658134, rs2115917320, rs72658187, rs68063264, rs1554395431, rs775246283, rs1791847482, rs2484713570, rs72658197, rs1791755938, rs2484708328, rs2484714527, rs1792259695, rs2484725490, rs2484733399, rs779887555, rs2484735314, rs2484700107, rs2484721766, rs111662392, rs2484705722, rs72656400, rs2484719766, rs72659336, rs747369521, rs2484723993, rs2484699831, rs2484714503, rs2484700681, rs2484705896, rs2484707979, rs2484719729, rs1792147522, rs2484724027, rs2484734879, rs72656357, rs74315146, rs121912905, rs72658200, rs121912910, rs72658176, rs72656364, rs72656355, rs121912912, rs72656391, rs928361235, rs1057524847, rs1064796419, rs1114167416, rs1114167417, rs67707918, rs72658119, rs72658143, rs67768540, rs1131692167, rs67525025, rs1554396083, rs72658182, rs72658104, rs72658189, rs72658154, rs193922173, rs1554396680, rs1554396983, rs1554398261, rs72656360, rs1554396612, rs1554396679, rs72658198, rs1554398251, rs72659335, rs72656356, rs1554395411, rs72656392, rs66612022, rs66619856, rs72658164, rs1554395471, rs1554395970, rs72656390, rs1554396615, rs1554397275, rs1554395833, rs72658177, rs72656363, rs72658129, rs1554398396, rs1410254723, rs1554396361, rs1554396832, rs1554397975, rs72658118, rs1554395470, rs66883877, rs72656375, rs1554396271, rs1562905246, rs1562899031, rs1562900513, rs67543427, rs72658194, rs760626067, rs1562907190, rs72659325, rs72658108, rs72656394, rs72659312, rs1562907287, rs1584315950, rs1584320605, rs72658160, rs1584326393, rs72659340, rs1584328061, rs72656389, rs1584320553, rs1584319045, rs1791793058, rs72658112, rs1791913210, rs1791941199, rs72658171, rs1792149726, rs763053421, rs1792256171, rs1792298693, rs1792353123, rs72658140, rs72659303, rs1054264002, rs1791894410, rs1791951769, rs1792108270, rs72656385, rs1791858238, rs1791793398, rs1791952936, rs72659327, rs1554398835, rs1791759301, rs1792108068, rs72659308, rs1792308325, rs1792140624, rs1792269292, rs1792043985, rs1792044352, rs1792139807, rs1792257312, rs1791962073	RCV001330973 RCV001330974 RCV002546615 RCV002242784 RCV002242774 RCV002242770 RCV002242879 RCV002242779 RCV002242820 RCV002242821 RCV002242822 RCV002242823 RCV002242992 RCV002242851 RCV002242882 RCV002242803 RCV001882531 RCV003771724 RCV001882741 RCV001866248 RCV003772048 RCV002543291 RCV002024171 RCV001990385 RCV001969058 RCV001993591 RCV001961344 RCV002019618 RCV001933055 RCV001898068 RCV002028595 RCV002031537 RCV001969229 RCV001958562 RCV001970920 RCV001953739 RCV001891127 RCV001982827 RCV001977185 RCV001942831 RCV001973919 RCV001932458 RCV001901796 RCV001969697 RCV001998278 RCV002047662 RCV001993149 RCV001922511 RCV002007427 RCV001993390 RCV002016120 RCV001941895 RCV001895736 RCV001951134 RCV001972387 RCV002003093 RCV001920858 RCV001953547 RCV001972528 RCV001953550 RCV001953647 RCV002046789 RCV002046893 RCV001941280 RCV001959021 RCV001975235 RCV001959025 RCV002010354 RCV001956522 RCV001958727 RCV001915570 RCV001914173 RCV001973639 RCV002033708 RCV001886325 RCV003774692 RCV003101515 RCV003096230 RCV003774894 RCV003774904 RCV003097730 RCV005227575 RCV002289306 RCV002571441 RCV002472338 RCV002472343 RCV002472346 RCV003037237 RCV003060124 RCV003037238 RCV003060125 RCV003037240 RCV003060126 RCV003060127 RCV003037241 RCV003060129 RCV003060131 RCV003037242 RCV003037243 RCV003037244 RCV003079083 RCV003074955 RCV003084870 RCV002516717 RCV002574771 RCV002570268 RCV002617099 RCV002785490 RCV002801427 RCV002819082 RCV002816113 RCV002842191 RCV002842322 RCV002852812 RCV002889570 RCV002880620 RCV002852220 RCV002857971 RCV002853015 RCV002862767 RCV002894768 RCV002867714 RCV002885938 RCV002889970 RCV002872403 RCV002918351 RCV002949060 RCV002229497 RCV003004959 RCV003018511 RCV003010411 RCV003034515 RCV003027432 RCV003052286 RCV003778689 RCV003778824 RCV000490744 RCV003779835 RCV003777283 RCV005227988 RCV005363096 RCV005220714 RCV005216124 RCV003785493 RCV003783831 RCV003782167 RCV003782828 RCV003783314 RCV003781055 RCV003781056 RCV003781057 RCV003781058 RCV003781059 RCV003781060 RCV003781061 RCV003781063 RCV003781064 RCV003781065 RCV003781066 RCV003781067 RCV003781069 RCV003779487 RCV003782595 RCV003787806 RCV003787875 RCV003788021 RCV003793988 RCV003806104 RCV003806162 RCV003806684 RCV003799542 RCV003805621 RCV003805746 RCV003805924 RCV003806003 RCV003790711 RCV003801048 RCV003801059 RCV003803655 RCV003795040 RCV003802706 RCV003800404 RCV003800789 RCV003808735 RCV003808737 RCV003808883 RCV003810104 RCV003802347 RCV003809736 RCV003807504 RCV003807585 RCV003805049 RCV003812311 RCV003810387 RCV005220791 RCV002228037 RCV003764608 RCV005222692 RCV005222693 RCV002513109 RCV002228039 RCV003764609 RCV002228040 RCV002228041 RCV005627137 RCV001861415 RCV002230748 RCV002230081 RCV005222957 RCV003766718 RCV002230922 RCV000490674 RCV000490663 RCV001851298 RCV000490758 RCV002230967 RCV000490720 RCV002230965 RCV000490711 RCV005222965 RCV000490730 RCV000490726 RCV000490701 RCV000495171 RCV002231188 RCV002231000 RCV003766918 RCV002231211 RCV001858003 RCV002525213 RCV002231208 RCV002513242 RCV003764639 RCV002228065 RCV002231229 RCV002231231 RCV002231239 RCV002231244 RCV002231009 RCV002231010 RCV002231014 RCV002231237 RCV002231241 RCV002231016 RCV002231242 RCV002231026 RCV002231248 RCV002231005 RCV002231011 RCV000548758 RCV002231024 RCV002231025 RCV002231228 RCV002231232 RCV005223022 RCV002232561 RCV002232565 RCV002232602 RCV001868144 RCV000845036 RCV002234404 RCV002233928 RCV002234409 RCV002233931 RCV002234412 RCV002234410 RCV000659370 RCV001861725 RCV002233686 RCV002233226 RCV002233545 RCV002233541 RCV002232840 RCV002233375 RCV002232871 RCV002232963 RCV002233416 RCV002232982 RCV002233636 RCV001861953 RCV005223133 RCV002535437 RCV002233745 RCV002233746 RCV005225113 RCV002533908 RCV002235124 RCV002235296 RCV002234750 RCV002234320 RCV002235563 RCV002235432 RCV002234258 RCV002233867 RCV002235573 RCV002233827 RCV002536188 RCV000984473 RCV005213417 RCV002239315 RCV002239314 RCV002240331 RCV002240378 RCV001066906 RCV002240166 RCV002240267 RCV002239310 RCV002239349 RCV002239383 RCV002240622 RCV002240229 RCV002240207 RCV001065085 RCV001036610 RCV002240406 RCV002240729 RCV003769010 RCV001089658 RCV001089660 RCV005213454 RCV001873587 RCV005213505 RCV002241151 RCV002241147 RCV002241275 RCV002241231 RCV002241257 RCV002241395 RCV002240935 RCV002240948 RCV001203350 RCV002241076 RCV001202983 RCV002241409 RCV002241155 RCV002241451 RCV002241594 RCV002241536 RCV001240952 RCV002241549 RCV002241786 RCV002542860 RCV003770450
Osteogenesis imperfecta type III	Likely pathogenic; Pathogenic	rs749621872, rs1554397133, rs72658169, rs72658185, rs72658179, rs193922162, rs72658135, rs72656387, rs67180473, rs1215651130, rs2484722838, rs2484734751, rs2484725181, rs72659319, rs72659342, rs2115959456, rs72658183, rs2484721857, rs72658187, rs72659345, rs121912905, rs121912907, rs869254878, rs72658200, rs121912911, rs72658176, rs72656402, rs267606742, rs72659338, rs2484729335, rs67729041, rs67865220, rs1114167412, rs72658150, rs67609234, rs1114167414, rs1114167415, rs66612022, rs66619856, rs1554396283, rs72658118, rs1562906013, rs1584320605, rs1584324507, rs1584319418, rs1791858238, rs1792257312	RCV004796620 RCV003883697 RCV001808871 RCV002469444 RCV002243493 RCV004770347 RCV002273900 RCV005627121 RCV002290284 RCV005627122 RCV002469934 RCV002472345 RCV005627126 RCV000197038 RCV003314445 RCV003324616 RCV005627129 RCV004548625 RCV005627131 RCV000018776 RCV000018787 RCV000018794 RCV000018800 RCV000018802 RCV000018806 RCV000018808 RCV000018813 RCV000018823 RCV000018824 RCV004577286 RCV000490716 RCV000993573 RCV000490763 RCV000490755 RCV000490699 RCV000490732 RCV000490704 RCV006257301 RCV001809476 RCV000622537 RCV005627107 RCV000791087 RCV000850502 RCV004596359 RCV005627110 RCV005627111 RCV005627113
Osteogenesis imperfecta with normal sclerae, dominant form	Pathogenic; Likely pathogenic	rs66773001, rs749621872, rs72658173, rs72659306, rs2115941300, rs2115946490, rs2115959468, rs72658185, rs72658179, rs2115962248, rs906553840, rs67707918, rs72659309, rs2484712486, rs193922168, rs2484716097, rs2484737404, rs72658152, rs72659319, rs2484714499, rs2484708420, rs72658113, rs2484708328, rs121912903, rs121912907, rs869254878, rs74315103, rs121912912, rs2484734377, rs2484737810, rs72656386, rs67865220, rs68132885, rs72658119, rs72658143, rs72659310, rs72659325, rs67525025, rs72656392, rs66612022, rs72658164, rs1554395970, rs72658127, rs72658154, rs72656394, rs1562907287, rs1562906013, rs1584320605, rs1584324507, rs1131692167, rs1584330396, rs1387151592, rs72656385, rs1791793398, rs72658184, rs72658201, rs1792269292, rs68063264	RCV005627114 RCV004796620 RCV005627115 RCV002243318 RCV004595622 RCV001733874 RCV005627181 RCV005627118 RCV002243493 RCV002259408 RCV002244160 RCV002251215 RCV005627120 RCV002287637 RCV002289163 RCV002472344 RCV002472347 RCV005627124 RCV000197038 RCV003333563 RCV004548627 RCV005627130 RCV005627134 RCV000018775 RCV000018783 RCV000018793 RCV005627097 RCV000018804 RCV000018819 RCV004555522 RCV004556171 RCV002244949 RCV000490709 RCV000490666 RCV001250519 RCV000490690 RCV002227169 RCV000490679 RCV003152709 RCV000490660 RCV000490746 RCV005627102 RCV005627105 RCV001196500 RCV005863193 RCV002244998 RCV001807644 RCV005627109 RCV001543665 RCV004586915 RCV000790932 RCV000850502 RCV001809838 RCV003315360 RCV000995714 RCV001261877 RCV001261878 RCV001198993 RCV001198919 RCV001195841 RCV005627112 RCV001253080
Osteogenesis imperfecta, mild	Pathogenic	rs74315146	RCV000018777
Osteogenesis imperfecta, perinatal lethal	Pathogenic; Likely pathogenic	rs2115902583, rs749621872, rs1114167416, rs72658141, rs72658106, rs2115954840, rs2115957148, rs72658134, rs2115865220, rs762201938, rs775246283, rs72658179, rs193922162, rs2115952631, rs72658116, rs2115924241, rs2115898280, rs2115921523, rs2115921279, rs2484737405, rs72659319, rs72658125, rs72659307, rs72658117, rs1443518475, rs121912900, rs121912901, rs121912902, rs121912904, rs1799871, rs121912906, rs72658157, rs121912908, rs121912909, rs121912910, rs267606741, rs72656391, rs1057516036, rs906553840, rs68132885, rs72658143, rs67525025, rs72656387, rs72656392, rs66612022, rs66619856, rs72658164, rs1554395833, rs72658129, rs72658118, rs1554398361, rs67768540, rs72658108, rs1584320605, rs1584325552, rs1792147522	RCV001644993 RCV004796620 RCV001542467 RCV005861247 RCV001775390 RCV006249772 RCV002264830 RCV001808941 RCV001836669 RCV001836672 RCV001836673 RCV002243493 RCV004785437 RCV002071024 RCV002244124 RCV002248999 RCV002249375 RCV002249376 RCV002254141 RCV002510599 RCV000197038 RCV003140431 RCV003140449 RCV004786641 RCV003482490 RCV000018779 RCV000018781 RCV000018782 RCV000018786 RCV000018788 RCV000018789 RCV000018792 RCV000018795 RCV000018798 RCV000018803 RCV000018822 RCV004586479 RCV000408630 RCV002289658 RCV004777683 RCV003139688 RCV001542469 RCV003992162 RCV001375860 RCV006257301 RCV001542470 RCV001255997 RCV001542468 RCV001823152 RCV003313968 RCV002249384 RCV003388595 RCV000735746 RCV000850502 RCV001823173 RCV002249643
Postmenopausal osteoporosis	Pathogenic	rs72656370, rs72658152	RCV001526511 RCV000018799
See cases	Likely pathogenic; Pathogenic	rs193922162, rs72656387, rs2484743799, rs72659310, rs72659325, rs72656394	RCV004584457 RCV004584526 RCV002287765 RCV003155210 RCV003155211 RCV002252228
Short fetal femur length	Pathogenic	rs72659325	RCV002264701
Skeletal dysplasia	Pathogenic	rs1057518967	RCV000415158
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1562906013	RCV005901943

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Uncertain significance	rs772672797	RCV005909123
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs7804898, rs72658163	RCV005915152 RCV005887560
Cholangiocarcinoma	Benign	rs7804898, rs62464629, rs7805430	RCV005915154 RCV005921507 RCV005904143
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs368468, rs189374343, rs765118884, rs886062514, rs141088934, rs139851311, rs72658163, rs189557655, rs763509640, rs145355907, rs754825427, rs780687409, rs150670521, rs1554394649, rs372678526, rs1554395967, rs370275593, rs1292046736, rs762359173, rs960325497, rs370073620, rs1554398544, rs1554398713, rs374878685	RCV000659372 RCV000659378 RCV000659365 RCV000680484 RCV000680489 RCV000659381 RCV000680486 RCV000659368 RCV000659367 RCV000680488 RCV000659376 RCV000680483 RCV000680487 RCV000659366 RCV000659369 RCV000659371 RCV000659373 RCV000659374 RCV000659375 RCV000659377 RCV000659379 RCV000659380 RCV000659382 RCV000680485
Gastric cancer	Uncertain significance	rs541013702	RCV005930588
Hepatocellular carcinoma	Benign; Likely benign	rs42519, rs144540908	RCV005891124 RCV005902233
Intellectual disability	Conflicting classifications of pathogenicity	rs755610740, rs141088934	RCV005625567 RCV005625568
Lung cancer	Benign; Likely benign	rs7804898, rs373578055	RCV005915155 RCV005934932
Malignant lymphoma, large B-cell, diffuse	Benign	rs7804898, rs7805430	RCV005915153 RCV005904142
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	rs541013702, rs200532328	RCV005930587 RCV005899272
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs72658163	RCV005887559
Marfan syndrome, atypical	Conflicting classifications of pathogenicity	rs72658163	RCV000018790
Osteogenesis Imperfecta, Dominant	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs763546006, rs3917, rs886062516	RCV000307709 RCV000324325 RCV000313168
Osteogenesis Imperfecta, Recessive	Uncertain significance	rs747495679	RCV005863768
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73428218, rs144540908	RCV005917146 RCV005902235
Predisposition to dissection	Conflicting classifications of pathogenicity	rs145355907	RCV000791269
Rare disease with thoracic aortic aneurysm and aortic dissection	Uncertain significance	rs374282276	RCV003448916
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs73428218, rs6955879, rs72658163, rs144540908	RCV005917145 RCV005899273 RCV005887561 RCV005902234
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs41316908, rs6955879, rs144540908	RCV005917575 RCV005899274 RCV005902236

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	26482433, 36171259
Adenocarcinoma of Lung	Associate	31074380, 37795779
Adenoma	Associate	30175151
Alopecia	Associate	16755026
Alzheimer Disease	Associate	26482433
Amelogenesis Imperfecta Type IB	Associate	8702873
Aneurysm	Associate	27381111
Aneurysm Ruptured	Associate	34290266
Anodontia	Associate	23227268, 32234057
Aortic Valve Disease	Associate	32089075
Arnold Chiari Malformation	Associate	33974636
Arthritis Rheumatoid	Associate	36398072
Atherosclerosis	Associate	35534923
Atrial Fibrillation	Associate	34100729, 36398072
Bagatelle Cassidy syndrome	Associate	22795107
Biliary Atresia	Associate	36930067
Bone Diseases	Stimulate	20362080
Bone Diseases	Associate	2339695, 32730936, 37270749
Bone Diseases Metabolic	Associate	2052622, 23692737, 26235824
Breast Neoplasms	Associate	20525369, 35045088, 35650297, 35741056, 36800575
Calcinosis	Associate	18798308
Carcinogenesis	Associate	22674299, 33035117, 36057263, 37805556
Carcinoma Basal Cell	Associate	3361139
Carcinoma Hepatocellular	Associate	27831650, 28796071, 35650297, 38287800
Carcinoma Non Small Cell Lung	Associate	26439031
Carcinoma Pancreatic Ductal	Associate	33221741
Cardiac Valvular Defect Developmental	Associate	15077201
Cardiac valvular dysplasia X linked	Associate	15077201
Cardiomyopathy Dilated	Associate	36725968
Carotid Stenosis	Associate	32037372
Cerebral Infarction	Associate	37794518
Cervical Vertebrae Agenesis Of	Associate	2052622
Chorea Gravidarum	Associate	28815554
Chromosome 7 monosomy	Associate	1463018
Chromosome Aberrations	Associate	28498836
Chronic Disease	Associate	32006713
Collagen Diseases	Associate	16816023, 26863094
Colonic Neoplasms	Associate	31612481, 36057263
Colonic Neoplasms	Stimulate	37805556
Colorectal Neoplasms	Associate	26482433, 26993598, 30881993, 32356618, 32945508, 34814249, 34907282, 38287800
Congenital contractural arachnodactyly	Associate	35804365
Contusions	Associate	8071956
Cystic Fibrosis	Associate	3467586, 3467587
Deafness oligodontia syndrome	Associate	32234057
Dentin Dysplasia	Associate	23227268
Dentinogenesis Imperfecta	Associate	23227268, 2339695, 2567784, 26627451, 28498836
Diabetes Mellitus	Associate	35592524
Diabetic Nephropathies	Associate	28990106, 35923621, 37079269
Diabetic Retinopathy	Associate	37681455
Dupuytren Contracture	Associate	29983350
Dwarfism Pituitary	Associate	36714562
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	8071956
EDS VIIB	Associate	1556139
Ehlers Danlos Syndrome	Associate	15077201, 16816023, 23692737, 35822426, 40598578
Ehlers Danlos syndrome type 3	Associate	1577745, 8071956
Ehlers Danlos Syndrome Type IV	Associate	8950675
Ehlers Danlos Syndrome Type VII Autosomal Dominant	Associate	16816023, 9016532
Ehlers Danlos Syndrome Type VII Autosomal Recessive	Associate	1556139, 1577745, 1990839, 21801164, 23158907, 3019133
Esophageal Neoplasms	Stimulate	33543230
Esophageal Squamous Cell Carcinoma	Associate	31950035, 35067492, 38401086
Exfoliation Syndrome	Associate	37108678
Fetal Diseases	Associate	37875969
Fibroma Desmoplastic	Associate	18664619
Fibrosis	Associate	16755026, 34508113, 38297310
Fractures Bone	Associate	23692737, 26235824, 32730936, 8071956
Fractures Compression	Associate	2052622
Fragile X Syndrome	Associate	23692737
Gastritis Atrophic	Associate	37868053
Gastroesophageal Reflux	Associate	37907428
Gastrointestinal Neoplasms	Associate	7591960
Genetic Diseases Inborn	Associate	6313757
Glioblastoma	Stimulate	37354488
Glioma	Associate	31104065, 34815785, 37354488
Glomerulonephritis	Associate	11114293
Growth Disorders	Associate	1463018, 23692737, 32730936
Hearing Loss	Associate	22206639, 37678008
HEM dysplasia	Associate	34789231
Hemorrhage	Associate	40598578
Hernia Inguinal	Associate	8071956
Hernia Umbilical	Associate	8071956
Hip Dislocation	Associate	8071956
Hyperostosis Cortical Congenital	Associate	34272483
Hypophosphatasia	Associate	26432670, 37758163
Idiopathic Pulmonary Fibrosis	Associate	15955241, 32899090, 37907428
Inflammation	Associate	35093162, 38059912
Intellectual Disability	Associate	1463018
Intervertebral Disc Degeneration	Associate	32873329
Intestinal Diseases	Associate	23635716
Intracranial Aneurysm	Associate	22815632, 27381111, 34290266
Intracranial Hemorrhage Hypertensive	Associate	26910001
Joint Diseases	Associate	23692737
Joint Instability	Associate	15077201, 8071956
Juvenile osteoporosis	Associate	10027910, 32722848
Liver Cirrhosis	Associate	35650297
Lung Neoplasms	Associate	35650297
Lupus Nephritis	Stimulate	35967373
Lymphedema Congenital Recessive	Associate	18566967
Lymphoma	Inhibit	12716467
Lymphoma Large B Cell Diffuse	Associate	12716467
Macular Degeneration	Associate	22815632
Marfan Syndrome	Associate	2883320, 9016532
Marfan Syndrome	Stimulate	35052435
MASS syndrome	Associate	35822426
Medulloblastoma	Associate	18664619
Mouth Diseases	Associate	36853784
Mouth Neoplasms	Associate	36849997
Musculoskeletal Abnormalities	Associate	35804365
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	36853784
Myopia	Associate	2567784
Neoplasm Metastasis	Associate	20338660, 26260940, 36057263, 36415513
Neoplasms	Associate	12716467, 17601708, 18664619, 19401702, 21325292, 22674299, 27027429, 27894325, 27997896, 30175151, 30723390, 31074380, 34004031, 34326374, 34815785, 35956764, 36057263, 37108678, 37325617, 37626157, 37805556, 38254917, 38401086, 39273514
Neoplasms	Stimulate	31409759
Neuroblastoma	Associate	21314941
Non alcoholic Fatty Liver Disease	Associate	34419146
Non Muscle Invasive Bladder Neoplasms	Associate	27655672, 32391563, 33035117
Obesity	Associate	34419146
Osteoarthritis	Associate	17187661, 19404930, 35093162, 38059912
Osteogenesis Imperfecta	Associate	10027910, 10807697, 11208313, 11826020, 1376965, 15077201, 15824851, 16816023, 1711048, 18272325, 18375391, 18566967, 1874719, 18996919, 19015742, 1905723, 19331686, 1953667, 1967900, 1990009, 19929435, 2035536, 2052622, 20839288, 2116413, 21829228, 21884818, 2211725, 22206639, 2220807, 23227268, 2339700, 23499310, 23692737, 23853499, 23983594, 24079343, 24767406, 2511192, 25257953, 25510505, 2567784, 25742658, 26235824, 26432670, 26863094, 27146342, 27335225, 27519266, 27677223, 28498836, 28810924, 2886666, 28904723, 28953610, 2897363, 2913053, 2914942, 29225276, 29329516, 29344653, 29543922, 29669177, 29801479, 2981871, 30829463, 30886339, 31363794, 31876392, 32166892, 32234057, 32730936, 33406681, 33524049, 3372533, 33920808, 33939306, 34098919, 34519823, 35044492, 35052464, 35276006, 35550181, 35647203, 35657380, 35804365, 35822426, 35909573, 36140746, 36225201, 36339400, 3667599, 36734182, 3722186, 37229455, 37293821, 37643181, 37678008, 37730650, 37758163, 37829592, 37929041, 38148598, 4031065, 40444480, 40649786, 6418743, 6689020, 6934545, 6946461, 7693712, 7891382, 7961597, 8182080, 8349698, 8950675, 9016532, 9443882
Osteogenesis imperfecta type 1A	Associate	23227268
Osteogenesis imperfecta type 2A	Associate	11277941, 1460046, 2339700, 2981871, 8182080
Osteogenesis imperfecta type 2B	Associate	2777764
Osteogenesis imperfecta type 3	Associate	10807697, 29543922, 36225201, 7891382
Osteogenesis Imperfecta Type IV	Associate	11208313, 18375391, 1967900, 1972760, 22795107, 25835785, 2886666, 28904723, 2897363, 3001313, 31159867, 35550181, 36225201, 7982948, 8567966
Osteogenesis Imperfecta Type IX	Associate	19781681
Osteoporosis	Associate	2052622, 26235824, 3001313, 36105394, 40563416, 9016532
Osteoporosis pseudoglioma syndrome	Associate	15824851
Osteoporotic Fractures	Associate	26235824, 28858097, 28930368
Osteosarcoma	Associate	35578666
Ovarian Neoplasms	Associate	30142790, 35650297, 38527595
Pain	Associate	27832094
Pancreatic Neoplasms	Associate	30734598, 31706267, 36415513
Personality Disorders	Associate	34004031
Plaque Atherosclerotic	Associate	7504887
Preterm Premature Rupture of the Membranes	Associate	20673868
Prostatic Neoplasms	Associate	35650297, 37108678
Proteinuria	Associate	35967373
red meat allergy	Associate	25656619
Rupture	Associate	23692737, 30643084, 34290266
Salter Harris Fractures	Associate	36714562
Sarcoma Ewing	Associate	29328472, 35047627
Sarcoma Ewing	Inhibit	35578666
Scheuermann Disease	Associate	34098919
Scoliosis	Associate	26627451, 29669177, 37730650
Sillence syndrome	Associate	3001313
Skin Diseases	Associate	15077201
Skull Base Neoplasms	Associate	20721936
Squamous Cell Carcinoma of Head and Neck	Associate	18254958, 22674299, 27027429, 31304688, 37626157
Stomach Neoplasms	Associate	17601708, 27894325, 29921304, 30948703, 31127138, 32058995, 32908877, 33582701, 35242497, 35650297, 35739492, 35756405, 37800754, 37868053, 38041130
Stomach Neoplasms	Stimulate	34326374
Thoracic Diseases	Associate	33029260
Triple Negative Breast Neoplasms	Associate	8567966
Urinary Bladder Neoplasms	Associate	30723390, 32390597, 33035117
Virus Diseases	Associate	36398072