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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1278
Gene name	Collagen type I alpha 2 chain
Gene symbol	COL1A2
Synonyms (NCBI Gene)	EDSARTH2EDSCVOI4
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

207

Show/Hide all (207)

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

519

Show/Hide all (519)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT000472	hsa-let-7g-5p	qRT-PCRLuciferase reporter assayWestern blot	20338660
MIRT001928	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001928	hsa-miR-29c-3p	ImmunohistochemistryqRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	ImmunohistochemistryqRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	ImmunohistochemistryqRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT001928	hsa-miR-29c-3p	MicroarrayqRT-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 assayqRT-PCRWestern blot	28079129
MIRT731943	hsa-miR-26b-5p	Luciferase reporter assayqRT-PCRWestern 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

Show/Hide all (17)

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

Show/Hide all (47)

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

MIM	HGNC	e!Ensembl
120160	2198	ENSG00000164692

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

Interactions

View interactions

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

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs1554395833, rs1054264002	RCV001836846 RCV001814270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bruck syndrome 1	Likely pathogenic	rs794727669	RCV002469046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs749621872, rs193922168, rs2484702812, rs1114167416, rs72656387, rs72658129, rs1410254723, rs1054264002, rs68063264	RCV002438886 RCV002325721 RCV005323577 RCV002446951 RCV005540011 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL1A2-related disorder	Likely pathogenic; Pathogenic	rs749621872, rs72659304, rs2115954840, rs72656386, rs72656378, rs2115921279, rs1381927942, rs2115959456, rs2484725715, rs2115941300, rs2484729533, rs2484737562, rs2484724068, rs72658158, rs2484708250 View all (13 more)	RCV004743444 RCV005867215 RCV003416459 RCV003401970 RCV003418259 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Collagen type 1 disorder	Likely pathogenic; Pathogenic	rs72658147	RCV003405207	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dentinogenesis imperfecta	Pathogenic; Likely pathogenic	rs72659332, rs67707918, rs66883877	RCV001779169 RCV001778978 RCV000662309	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs72659306, rs2115877489, rs1305819869, rs1064794058, rs67398234, rs72656355, rs67162110, rs67865220, rs1410254723, rs1792298693, rs1792044352	RCV002276905 RCV002277783 RCV002277978 RCV003479810 RCV002276560 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, arthrochalasia type	Likely pathogenic; Pathogenic	rs749621872	RCV002508960	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, arthrochalasia type, 2	Likely pathogenic; Pathogenic	rs1792148801, rs749621872, rs2115917238, rs2115931844, rs72659306, rs2115962248, rs2115924490, rs72656402, rs72659319, rs72656357, rs67398234, rs66820119, rs72656355, rs72658185, rs67865220 View all (6 more)	RCV001333194 RCV005408883 RCV001775432 RCV001808961 RCV005860264 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, cardiac valvular type	Likely pathogenic; Pathogenic	rs749621872, rs775246283, rs2484727900, rs72656367, rs67162110, rs72656354, rs72659343, rs797044459, rs66612022, rs1584320605	RCV002508960 RCV005238003 RCV003330256 RCV000018814 RCV000018815 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type, 1	Likely pathogenic; Pathogenic	rs1792148801, rs2115875189, rs1584318303, rs2115902837, rs2115946426, rs2115957747, rs67675951, rs67210352, rs66773001, rs72658152, rs72658174, rs72658190, rs749621872, rs780395429, rs72659332 View all (260 more)	RCV002546615 RCV002242784 RCV002242774 RCV002242770 RCV002242879 View all (317 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs67162110	RCV005887562	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Increased susceptibility to fractures	Pathogenic	rs72656387	RCV002255121	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple prenatal fractures	Pathogenic	rs1057518967	RCV000415158	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs67210352, rs749621872, rs72658173, rs2115931969, rs2115954840, rs2115898280, rs67707918, rs121912906, rs72658122, rs2115917195, rs2115921275, rs72658178, rs72658185, rs2115937116, rs2115877489 View all (43 more)	RCV002225133 RCV002508960 RCV002222719 RCV001794519 RCV001795872 View all (55 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type I	Likely pathogenic; Pathogenic	rs72656376, rs1584318648, rs1792148801, rs2115875189, rs1584318303, rs2115902837, rs2115946426, rs2115957747, rs67675951, rs67210352, rs66773001, rs72658152, rs72658174, rs72658190, rs749621872 View all (278 more)	RCV001330973 RCV001330974 RCV002546615 RCV002242784 RCV002242774 View all (338 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type III	Likely pathogenic; Pathogenic	rs749621872, rs1554397133, rs72658169, rs72658185, rs72658179, rs193922162, rs72658135, rs72656387, rs67180473, rs1215651130, rs2484722838, rs2484734751, rs2484725181, rs72659319, rs72659342 View all (32 more)	RCV004796620 RCV003883697 RCV001808871 RCV002469444 RCV002243493 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (43 more)	RCV005627114 RCV004796620 RCV005627115 RCV002243318 RCV004595622 View all (57 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta, mild	Pathogenic	rs74315146	RCV000018777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta, perinatal lethal	Pathogenic; Likely pathogenic	rs2115902583, rs749621872, rs1114167416, rs72658141, rs72658106, rs2115954840, rs2115957148, rs72658134, rs2115865220, rs762201938, rs775246283, rs72658179, rs193922162, rs2115952631, rs72658116 View all (41 more)	RCV001644993 RCV004796620 RCV001542467 RCV005861247 RCV001775390 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Postmenopausal osteoporosis	Pathogenic	rs72656370, rs72658152	RCV001526511 RCV000018799	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short fetal femur length	Pathogenic	rs72659325	RCV002264701	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Pathogenic	rs1057518967	RCV000415158	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1562906013	RCV005901943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (69)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC-VALVULAR EHLERS-DANLOS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL1A2-RELATED EHLERS-DANLOS SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL1A2-RELATED OSTEOGENESIS IMPERFECTA	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CARDIAC VALVULAR TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; 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	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome, atypical	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOSAL FIBROSIS, INCLUDING OF TONGUE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOUS FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Dominant	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, DOMINANT PERINATAL LETHAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE 2A	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE II	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE III	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE IV	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Predisposition to dissection	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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
Rare disease with thoracic aortic aneurysm and aortic dissection	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA, SYSTEMIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (285)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achondrogenesis type 2	Achondrogenesis	BEFREE	8175802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28814946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890, 30892233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23045325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18664619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26482433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	17552940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta Type IB	Amelogenesis imperfecta	Pubtator	8702873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	27381111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	23227268, 32234057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28818856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	32089075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	26711547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	8728690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28738217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23232804, 31214191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36398072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrochalasia Ehlers-Danlos syndrome	Arthrochalasia Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28738217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35534923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29245016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34100729, 36398072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	36930067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19424577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	20362080	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	2339695, 32730936, 37270749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	2052622, 23692737, 26235824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	19208385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20525369, 35045088, 35650297, 35741056, 36800575	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	18798308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	9192513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22674299, 33035117, 36057263, 37805556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	3361139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27831650, 28796071, 35650297, 38287800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19424577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33221741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Valvular Defect Developmental	Cardiac valvular dysplasia	Pubtator	15077201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac-valvular Ehlers-Danlos syndrome	Cardiacvalvular Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36725968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32037372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	23849651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	19559927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37794518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19426706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18664619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31202624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	32006713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31612481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	23849651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	20388698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30881993, 31492296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31612481, 36057263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37805556	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29352642, 30123364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12702564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26482433, 26993598, 30881993, 32356618, 32945508, 34814249, 34907282, 38287800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	6881137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	26679756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	35804365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	31472299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	16705691, 24140640, 2683782, 3019133		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	28642975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Congenital Hyperostosis	Cortical Congenital Hyperostosis	BEFREE	24390061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	3011363, 3467586, 3467587, 7633407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	3467586, 3467587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17187661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentin Dysplasia	Dentin dysplasia	Pubtator	23227268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	17552940, 28498836, 29575674		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	23227268, 2339695, 2567784, 26627451, 28498836	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	CLINVAR_DG	26788535		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	35592524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	28990106, 35923621, 37079269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25354942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37681455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	29983350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	1463018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15077201, 17078022, 2010058, 21344539, 21801164, 21912751, 24140640, 24668929, 25944380, 2824475, 28625337, 28916840, 458828, 8071956, 9295084, 9557891 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EDS VIIB	Ehlers-Danlos syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	10694924, 15077201, 1577745, 1642226, 16816023, 17211858, 1990839, 2049575, 21801164, 23158907, 24440294, 30821104, 31794058, 3430546, 3800425, 9295084 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	15077201, 16816023		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome cardiac valvular type	Cardiacvalvular Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	16816023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome cardiac valvular type	Cardiacvalvular Ehlers-Danlos Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	Arthrochalasia Ehlers-Danlos syndrome	BEFREE	10982177, 1556139, 1712342, 1990839, 2318855, 2394758, 2777808, 3430546, 8081389		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	Arthrochalasia Ehlers-Danlos syndrome	ORPHANET_DG	8071956, 9295084		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	Arthrochalasia Ehlers-Danlos syndrome	GENOMICS_ENGLAND_DG	16816023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	Arthrochalasia Ehlers-Danlos syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, cardiac valvular form	Cardiacvalvular Ehlers-Danlos Syndrome	ORPHANET_DG	15077201, 16816023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, cardiac valvular form	Cardiacvalvular Ehlers-Danlos Syndrome	CTD_human_DG	15077201		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, cardiac valvular form	Cardiacvalvular Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	21593863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	11288717, 15077201, 15241796, 16705691, 16816023, 16879195, 17078022, 19344236, 21520333, 21667357, 22206639, 22589248, 22753364, 23692737, 23934635 View all (27 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	11359465, 16786509, 16816023, 16879195, 17078022, 18996919, 19344236, 1990009, 24668929, 27509835, 27510842, 2993307, 3372533, 6092353, 7695699, 8218237, 9016532, 9099837 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	BEFREE	3019133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome	BEFREE	1905723		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME	EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33543230	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31950035, 35067492, 38401086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	22815632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	31202624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18771671, 29253500, 30887659, 3804213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	37907428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal carcinoma	Gastrointestinal carcinoma	BEFREE	7591960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	26993598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	7591960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37354488	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31104065, 34815785, 37354488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11114293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	27503806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen Storage Disease	BEFREE	26147564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	1463018, 23692737, 32730936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22674299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22206639, 37678008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28738217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	15077201		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	40598578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	26432670, 29236161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
High bone mass osteogenesis imperfecta	High Bone Mass Osteogenesis Imperfecta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	22911485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis Cortical Congenital	Cortical congenital hyperostosis	Pubtator	34272483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23897791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20818890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20818890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypochondrogenesis	Hypochondrogenesis	BEFREE	8175802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	17898012, 23227268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	26432670, 37758163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	15955241, 32899090, 37907428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26884454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	1463018	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32873329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	23635716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	14739420, 19035720, 19426706, 22815632, 23036172, 23800505, 28671939, 29086084		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	LHGDN	14739420, 19035720		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	22815632, 27381111, 34290266	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20818890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoblastoma	Lipoblastoma	BEFREE	10987300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20338660, 21665180, 28796071, 31181620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	15983038		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	35650297	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobstein Disease	Lobstein Disease	CLINVAR_DG	11288717, 11359465, 15077201, 15241796, 16705691, 16786509, 16816023, 16879195, 17078022, 18996919, 19344236, 1990009, 21520333, 21667357, 22206639 View all (34 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	UNIPROT_DG	16705691, 16786509, 1990009, 8456807, 8829649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	BEFREE	1967900, 1972760, 24140640, 26957348, 3023615, 30829463, 6954526, 7916744, 8456805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	ORPHANET_DG	21438135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	BEFREE	22591006, 22965811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35650297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	35967373	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12716467	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22815632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22674299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30734598, 31706267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27805295, 27997896, 28401451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19424577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15132764, 25576648, 28059478, 30123364, 30800594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30881993, 31492296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18570923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	1969488, 1978725, 2879657, 2883320, 2985635, 3011649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	2883320, 9016532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	35052435	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	17653508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18664619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18664619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29885461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	27475668		★★★★★ ★☆☆☆☆ 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
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36853784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15077201, 17078022, 2010058, 21344539, 21801164, 21912751, 24140640, 24668929, 25944380, 2824475, 28625337, 28916840, 458828, 8071956, 9295084, 9557891 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	36853784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28738217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	2567784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18664619, 22674299, 30123364, 30604926, 31202624, 8579116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21314941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	LHGDN	17653508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30604926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34419146	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	12101112, 8530741		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	CTD_human_DG	16311067		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	17187661, 19404930, 35093162, 38059912	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	10027910, 10807697, 11208313, 11826020, 1376965, 15077201, 15824851, 16816023, 1711048, 18272325, 18375391, 18566967, 1874719, 18996919, 19015742 View all (103 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	10982177, 11208313, 11317364, 11359465, 11432962, 11668615, 11826020, 1301191, 1376965, 1460046, 1460047, 15077201, 15241796, 15339338, 15741671 View all (149 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	LHGDN	11668615, 11836364, 16705691, 16816023, 17875077, 18996919		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 1	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	11277941, 1460046, 2339700, 2981871, 8182080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	10807697, 29543922, 36225201, 7891382	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	UNIPROT_DG	10408781, 16786509, 16879195, 1990009, 7520724, 7720740, 7749416, 7860070, 7881420, 8081394, 8444468, 8456807, 8723681, 8800927, 8829649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	11359465, 19208385, 29543922, 8100856, 8728690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	CLINVAR_DG	25944380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	11208313, 18375391, 1967900, 1972760, 22795107, 25835785, 2886666, 28904723, 2897363, 3001313, 31159867, 35550181, 36225201, 7982948, 8567966	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	BEFREE	11208313, 18375391, 1967900, 1972760, 24677211, 2897363, 3001313, 3759085, 7945197, 7982948, 8096115, 8456805, 8567966, 9268111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	UNIPROT_DG	1642148, 16786509, 16879195, 2052622, 2064612, 2897363, 7693712, 8094076, 8401517, 8800927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	CLINVAR_DG	25944380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IX	Osteogenesis imperfecta	Pubtator	19781681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	UNIPROT_DG	10627137, 1284475, 1339453, 1385413, 16786509, 16879195, 1874719, 18996919, 2777764, 2914942, 7693712, 7891382, 7906591, 7959683, 8182080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	BEFREE	1460046, 18996919, 2981871, 3372533, 4022126, 8349697		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, recessive perinatal lethal	Osteogenesis Imperfecta	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	2052622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19426706, 2605936, 26235824, 2683782, 27665867, 3001313, 30449551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	2052622, 26235824, 3001313, 36105394, 40563416, 9016532	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	2052622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35578666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	9443071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	15211650, 22130917, 31192899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30142790, 35650297, 38527595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30734598, 31706267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30734598, 31706267, 36415513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	26147564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35650297, 37108678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	35967373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	31472299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19565505, 9214423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27775453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16521042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	29328472, 35047627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35578666	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	11861221, 15153536, 1520334, 15675950, 17698844, 18298657, 24630239, 3582658, 9214423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	26627451, 29669177, 37730650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	26927310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	19468049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Diseases	Skin disease	Pubtator	15077201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30604926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958, 22674299, 27027429, 31304688, 37626157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22674299, 27027429, 31304688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27805295, 27997896, 28401451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17601708, 27894325, 29921304, 30948703, 31127138, 32058995, 32908877, 33582701, 35242497, 35650297, 35739492, 35756405, 37800754, 37868053, 38041130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	27805295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34326374	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	10872800, 11861221, 15153536, 1520334, 15675950, 16200604, 16319104, 17698844, 18298657, 22796227, 2307855, 23159281, 24630239, 24706986, 3582658, 9214423, 9856811 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	LHGDN	18323784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	CTD_human_DG	24706986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic Diseases	Thoracic disease	Pubtator	33029260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1684560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	8567966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30723390, 32390597, 33035117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COL1A2 (collagen type I alpha 2 chain)