COL5A1 (collagen type V alpha 1 chain)

Gene

• Entrez ID: 1289
• Gene name: Collagen type V alpha 1 chain
• Gene symbol: COL5A1
• Synonyms (NCBI Gene): EDSC, EDSCL1, FMDMF
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appea

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35002351	G>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs61736827	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs121912933	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs139070070	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs140797509	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs142313124	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs142890619	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147729713	C>T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs150147262	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs150539264	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs183881247	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs368595229	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369126350	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs376478864	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906606	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs545973022	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs559882772	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs758190171	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs764693725	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs765079080	T>G	Pathogenic	Intron variant
rs769752636	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs772445337	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs777625241	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs786200922	G>T	Pathogenic	Intron variant
rs786205100	C>-,CC	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786205101	A>G	Pathogenic	Splice acceptor variant
rs786205102	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs794727114	G>C	Pathogenic	Splice acceptor variant
rs794727760	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223444	T>A	Likely-pathogenic	Intron variant
rs863223445	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863223448	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863223452	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs863223453	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs863223454	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863223469	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223470	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223471	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223472	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223473	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223474	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863223478	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886042045	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886042173	G>A	Pathogenic	Splice donor variant
rs886043641	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs926426117	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1032017865	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1057518653	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057518871	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057519596	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060502242	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060502248	G>A	Pathogenic	Splice donor variant
rs1060502255	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060502258	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060502259	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs1064796684	G>T	Pathogenic	Splice donor variant
rs1085307855	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131691820	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131691874	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1179967153	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1341789008	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1554781700	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554787526	G>C	Likely-pathogenic	Splice acceptor variant
rs1554787557	TG>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained
rs1554787779	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554787811	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554788339	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554792005	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554792011	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554792869	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554796176	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554799402	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554803622	->G	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1554805076	AGGAGAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554805142	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554805638	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564418237	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564446117	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1564453831	C>G	Likely-pathogenic	Intron variant
rs1564453833	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant
rs1564455577	G>T	Likely-pathogenic	Splice donor variant
rs1564457102	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564463870	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1564471440	->TCCAGGGAGACCTGGGC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564475090	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564478485	G>T	Likely-pathogenic	Splice acceptor variant
rs1564481053	G>A	Pathogenic	Splice donor variant
rs1588448655	->CTTCTCCA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1588449879	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1588477255	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1588551159	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1588551226	T>C,G	Likely-pathogenic	Splice donor variant
rs1588562135	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs1588577214	G>T	Likely-pathogenic	Splice acceptor variant
rs1588578971	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029467	hsa-miR-26b-5p	Microarray	19088304
MIRT037642	hsa-miR-744-5p	CLASH	23622248
MIRT053211	hsa-miR-145-5p	Immunohistochemistry, Microarray, qRT-PCR, Western blot	23108408
MIRT053642	hsa-miR-143-3p	Microarray	22942087
MIRT479025	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT479023	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT479022	hsa-miR-764	PAR-CLIP	23592263
MIRT479021	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT479020	hsa-miR-4434	PAR-CLIP	23592263
MIRT479019	hsa-miR-4516	PAR-CLIP	23592263
MIRT479018	hsa-miR-5703	PAR-CLIP	23592263
MIRT479016	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT479017	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT479015	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT479014	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT479013	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT479012	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT479011	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT479009	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT479010	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT479008	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT479007	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT479006	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT479005	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT479004	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT479003	hsa-miR-3689c	PAR-CLIP	23592263
MIRT479002	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT479001	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT440916	hsa-miR-543	HITS-CLIP	24374217
MIRT440916	hsa-miR-543	HITS-CLIP	24374217
MIRT756474	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT756474	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT756474	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT479025	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT479023	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT479022	hsa-miR-764	PAR-CLIP	23592263
MIRT479021	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT479020	hsa-miR-4434	PAR-CLIP	23592263
MIRT479019	hsa-miR-4516	PAR-CLIP	23592263
MIRT479018	hsa-miR-5703	PAR-CLIP	23592263
MIRT479016	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT479017	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT479015	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT479014	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT479013	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT479012	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT479011	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT479009	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT479010	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT479008	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT479007	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT479006	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT479005	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT479004	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT479003	hsa-miR-3689c	PAR-CLIP	23592263
MIRT479002	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT479001	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT756170	hsa-miR-137	Luciferase reporter assay, Western blotting, qRT-PCR	35805015
MIRT756170	hsa-miR-137	Luciferase reporter assay, Western blotting, qRT-PCR	35805015
MIRT756170	hsa-miR-137	Luciferase reporter assay, Western blotting, qRT-PCR	35805015
MIRT756474	hsa-miR-29b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35530352
MIRT903016	hsa-miR-1283	CLIP-seq
MIRT903017	hsa-miR-140-3p	CLIP-seq
MIRT903018	hsa-miR-1827	CLIP-seq
MIRT903019	hsa-miR-1910	CLIP-seq
MIRT903020	hsa-miR-192	CLIP-seq
MIRT903021	hsa-miR-215	CLIP-seq
MIRT903022	hsa-miR-3124-5p	CLIP-seq
MIRT903023	hsa-miR-3125	CLIP-seq
MIRT903024	hsa-miR-3136-5p	CLIP-seq
MIRT903025	hsa-miR-3178	CLIP-seq
MIRT903026	hsa-miR-3179	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT903028	hsa-miR-3613-3p	CLIP-seq
MIRT903029	hsa-miR-3615	CLIP-seq
MIRT903030	hsa-miR-3622b-5p	CLIP-seq
MIRT903031	hsa-miR-3646	CLIP-seq
MIRT903032	hsa-miR-3662	CLIP-seq
MIRT903033	hsa-miR-3667-3p	CLIP-seq
MIRT903034	hsa-miR-3916	CLIP-seq
MIRT903035	hsa-miR-4424	CLIP-seq
MIRT903036	hsa-miR-4439	CLIP-seq
MIRT903037	hsa-miR-4447	CLIP-seq
MIRT903038	hsa-miR-4448	CLIP-seq
MIRT903039	hsa-miR-4472	CLIP-seq
MIRT903040	hsa-miR-4475	CLIP-seq
MIRT903041	hsa-miR-4479	CLIP-seq
MIRT903042	hsa-miR-4488	CLIP-seq
MIRT903043	hsa-miR-4513	CLIP-seq
MIRT903044	hsa-miR-4523	CLIP-seq
MIRT903045	hsa-miR-4638-5p	CLIP-seq
MIRT903046	hsa-miR-4654	CLIP-seq
MIRT903047	hsa-miR-4663	CLIP-seq
MIRT903048	hsa-miR-4697-5p	CLIP-seq
MIRT903049	hsa-miR-4717-3p	CLIP-seq
MIRT903050	hsa-miR-4728-3p	CLIP-seq
MIRT903051	hsa-miR-4769-5p	CLIP-seq
MIRT903052	hsa-miR-4787-5p	CLIP-seq
MIRT903053	hsa-miR-539	CLIP-seq
MIRT903054	hsa-miR-541	CLIP-seq
MIRT903055	hsa-miR-570	CLIP-seq
MIRT903056	hsa-miR-642a	CLIP-seq
MIRT903057	hsa-miR-654-5p	CLIP-seq
MIRT903058	hsa-miR-885-3p	CLIP-seq
MIRT903059	hsa-miR-9	CLIP-seq
MIRT1547114	hsa-miR-1205	CLIP-seq
MIRT1547115	hsa-miR-1208	CLIP-seq
MIRT1547116	hsa-miR-1228	CLIP-seq
MIRT1547117	hsa-miR-124	CLIP-seq
MIRT1547118	hsa-miR-1273g	CLIP-seq
MIRT903016	hsa-miR-1283	CLIP-seq
MIRT1547119	hsa-miR-1286	CLIP-seq
MIRT1547120	hsa-miR-129-5p	CLIP-seq
MIRT1547121	hsa-miR-1297	CLIP-seq
MIRT1547122	hsa-miR-1305	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT903017	hsa-miR-140-3p	CLIP-seq
MIRT1547123	hsa-miR-146b-3p	CLIP-seq
MIRT1547124	hsa-miR-147	CLIP-seq
MIRT1547125	hsa-miR-150	CLIP-seq
MIRT1547126	hsa-miR-186	CLIP-seq
MIRT1547127	hsa-miR-1908	CLIP-seq
MIRT903019	hsa-miR-1910	CLIP-seq
MIRT1547128	hsa-miR-198	CLIP-seq
MIRT1547129	hsa-miR-217	CLIP-seq
MIRT1547130	hsa-miR-26a	CLIP-seq
MIRT1547131	hsa-miR-26b	CLIP-seq
MIRT1547132	hsa-miR-298	CLIP-seq
MIRT1547133	hsa-miR-29a	CLIP-seq
MIRT1547134	hsa-miR-29b	CLIP-seq
MIRT1547135	hsa-miR-29c	CLIP-seq
MIRT1547136	hsa-miR-3065-3p	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT1547138	hsa-miR-3130-5p	CLIP-seq
MIRT1547139	hsa-miR-3133	CLIP-seq
MIRT1547140	hsa-miR-3141	CLIP-seq
MIRT1547141	hsa-miR-3148	CLIP-seq
MIRT1547142	hsa-miR-3150a-3p	CLIP-seq
MIRT1547143	hsa-miR-3158-5p	CLIP-seq
MIRT1547144	hsa-miR-3173-5p	CLIP-seq
MIRT1547145	hsa-miR-3175	CLIP-seq
MIRT903026	hsa-miR-3179	CLIP-seq
MIRT1547146	hsa-miR-3187-3p	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT1547147	hsa-miR-323-5p	CLIP-seq
MIRT1547148	hsa-miR-337-3p	CLIP-seq
MIRT1547149	hsa-miR-337-5p	CLIP-seq
MIRT1547150	hsa-miR-3545-5p	CLIP-seq
MIRT903028	hsa-miR-3613-3p	CLIP-seq
MIRT1547151	hsa-miR-3614-3p	CLIP-seq
MIRT903030	hsa-miR-3622b-5p	CLIP-seq
MIRT1547152	hsa-miR-3671	CLIP-seq
MIRT1547153	hsa-miR-3690	CLIP-seq
MIRT1547154	hsa-miR-3974	CLIP-seq
MIRT1547155	hsa-miR-3978	CLIP-seq
MIRT1547156	hsa-miR-4263	CLIP-seq
MIRT1547157	hsa-miR-4270	CLIP-seq
MIRT1547158	hsa-miR-4299	CLIP-seq
MIRT1547159	hsa-miR-4308	CLIP-seq
MIRT1547160	hsa-miR-4318	CLIP-seq
MIRT1547161	hsa-miR-4419a	CLIP-seq
MIRT1547162	hsa-miR-4420	CLIP-seq
MIRT903035	hsa-miR-4424	CLIP-seq
MIRT1547163	hsa-miR-4435	CLIP-seq
MIRT1547164	hsa-miR-4441	CLIP-seq
MIRT1547165	hsa-miR-4446-5p	CLIP-seq
MIRT903037	hsa-miR-4447	CLIP-seq
MIRT1547166	hsa-miR-4456	CLIP-seq
MIRT1547167	hsa-miR-4465	CLIP-seq
MIRT903039	hsa-miR-4472	CLIP-seq
MIRT1547168	hsa-miR-4474-3p	CLIP-seq
MIRT1547169	hsa-miR-4482	CLIP-seq
MIRT1547170	hsa-miR-4510	CLIP-seq
MIRT1547171	hsa-miR-4514	CLIP-seq
MIRT1547172	hsa-miR-4527	CLIP-seq
MIRT1547173	hsa-miR-4638-3p	CLIP-seq
MIRT1547174	hsa-miR-4643	CLIP-seq
MIRT1547175	hsa-miR-4651	CLIP-seq
MIRT1547176	hsa-miR-466	CLIP-seq
MIRT903047	hsa-miR-4663	CLIP-seq
MIRT1547177	hsa-miR-4667-5p	CLIP-seq
MIRT1547178	hsa-miR-4685-5p	CLIP-seq
MIRT1547179	hsa-miR-4692	CLIP-seq
MIRT1547180	hsa-miR-4693-5p	CLIP-seq
MIRT1547181	hsa-miR-4700-5p	CLIP-seq
MIRT1547182	hsa-miR-4701-5p	CLIP-seq
MIRT1547183	hsa-miR-4713-5p	CLIP-seq
MIRT1547184	hsa-miR-4722-5p	CLIP-seq
MIRT903050	hsa-miR-4728-3p	CLIP-seq
MIRT1547185	hsa-miR-4747-5p	CLIP-seq
MIRT1547186	hsa-miR-4755-5p	CLIP-seq
MIRT1547187	hsa-miR-4762-5p	CLIP-seq
MIRT903052	hsa-miR-4787-5p	CLIP-seq
MIRT1547188	hsa-miR-4789-3p	CLIP-seq
MIRT1547189	hsa-miR-4798-3p	CLIP-seq
MIRT1547190	hsa-miR-491-5p	CLIP-seq
MIRT1547191	hsa-miR-493	CLIP-seq
MIRT1547192	hsa-miR-495	CLIP-seq
MIRT1547193	hsa-miR-506	CLIP-seq
MIRT1547194	hsa-miR-532-3p	CLIP-seq
MIRT903054	hsa-miR-541	CLIP-seq
MIRT1547195	hsa-miR-542-5p	CLIP-seq
MIRT1547196	hsa-miR-548q	CLIP-seq
MIRT1547197	hsa-miR-548s	CLIP-seq
MIRT1547198	hsa-miR-576-5p	CLIP-seq
MIRT1547199	hsa-miR-581	CLIP-seq
MIRT1547200	hsa-miR-588	CLIP-seq
MIRT1547201	hsa-miR-607	CLIP-seq
MIRT1547202	hsa-miR-608	CLIP-seq
MIRT1547203	hsa-miR-617	CLIP-seq
MIRT1547204	hsa-miR-637	CLIP-seq
MIRT1547205	hsa-miR-642b	CLIP-seq
MIRT903057	hsa-miR-654-5p	CLIP-seq
MIRT1547206	hsa-miR-663	CLIP-seq
MIRT1547207	hsa-miR-670	CLIP-seq
MIRT1547208	hsa-miR-874	CLIP-seq
MIRT1547209	hsa-miR-876-3p	CLIP-seq
MIRT1547210	hsa-miR-887	CLIP-seq
MIRT1547211	hsa-miR-890	CLIP-seq
MIRT1547212	hsa-miR-892a	CLIP-seq
MIRT1547213	hsa-miR-939	CLIP-seq
MIRT1556190	hsa-miR-3180	CLIP-seq
MIRT1556191	hsa-miR-3180-3p	CLIP-seq
MIRT1556192	hsa-miR-3196	CLIP-seq
MIRT1547159	hsa-miR-4308	CLIP-seq
MIRT1547115	hsa-miR-1208	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT1967773	hsa-miR-143	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT1547162	hsa-miR-4420	CLIP-seq
MIRT1967774	hsa-miR-4436a	CLIP-seq
MIRT1547165	hsa-miR-4446-5p	CLIP-seq
MIRT1547186	hsa-miR-4755-5p	CLIP-seq
MIRT1967775	hsa-miR-4770	CLIP-seq
MIRT2203606	hsa-miR-1825	CLIP-seq
MIRT1547129	hsa-miR-217	CLIP-seq
MIRT2203607	hsa-miR-2355-5p	CLIP-seq
MIRT903030	hsa-miR-3622b-5p	CLIP-seq
MIRT2203608	hsa-miR-4418	CLIP-seq
MIRT1547163	hsa-miR-4435	CLIP-seq
MIRT1547176	hsa-miR-466	CLIP-seq
MIRT2203609	hsa-miR-4772-3p	CLIP-seq
MIRT2203610	hsa-miR-509-3-5p	CLIP-seq
MIRT2203611	hsa-miR-509-5p	CLIP-seq
MIRT1547198	hsa-miR-576-5p	CLIP-seq
MIRT1547142	hsa-miR-3150a-3p	CLIP-seq
MIRT1547145	hsa-miR-3175	CLIP-seq
MIRT903030	hsa-miR-3622b-5p	CLIP-seq
MIRT2386346	hsa-miR-4443	CLIP-seq
MIRT1547204	hsa-miR-637	CLIP-seq
MIRT1547213	hsa-miR-939	CLIP-seq
MIRT1547117	hsa-miR-124	CLIP-seq
MIRT2427632	hsa-miR-1273e	CLIP-seq
MIRT1547118	hsa-miR-1273g	CLIP-seq
MIRT903016	hsa-miR-1283	CLIP-seq
MIRT1547119	hsa-miR-1286	CLIP-seq
MIRT1547121	hsa-miR-1297	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT903017	hsa-miR-140-3p	CLIP-seq
MIRT1547123	hsa-miR-146b-3p	CLIP-seq
MIRT1547124	hsa-miR-147	CLIP-seq
MIRT1547125	hsa-miR-150	CLIP-seq
MIRT2427633	hsa-miR-182	CLIP-seq
MIRT2427634	hsa-miR-1912	CLIP-seq
MIRT2427635	hsa-miR-1973	CLIP-seq
MIRT1547129	hsa-miR-217	CLIP-seq
MIRT2427636	hsa-miR-25	CLIP-seq
MIRT1547130	hsa-miR-26a	CLIP-seq
MIRT1547131	hsa-miR-26b	CLIP-seq
MIRT1547132	hsa-miR-298	CLIP-seq
MIRT1547133	hsa-miR-29a	CLIP-seq
MIRT1547134	hsa-miR-29b	CLIP-seq
MIRT1547135	hsa-miR-29c	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT903023	hsa-miR-3125	CLIP-seq
MIRT1547142	hsa-miR-3150a-3p	CLIP-seq
MIRT2427637	hsa-miR-3155	CLIP-seq
MIRT2427638	hsa-miR-3155b	CLIP-seq
MIRT1547143	hsa-miR-3158-5p	CLIP-seq
MIRT1547144	hsa-miR-3173-5p	CLIP-seq
MIRT1547145	hsa-miR-3175	CLIP-seq
MIRT903026	hsa-miR-3179	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT2427639	hsa-miR-3194-3p	CLIP-seq
MIRT2427640	hsa-miR-32	CLIP-seq
MIRT2427641	hsa-miR-33a	CLIP-seq
MIRT2427642	hsa-miR-33b	CLIP-seq
MIRT1547150	hsa-miR-3545-5p	CLIP-seq
MIRT2427643	hsa-miR-3609	CLIP-seq
MIRT2427644	hsa-miR-3612	CLIP-seq
MIRT903028	hsa-miR-3613-3p	CLIP-seq
MIRT2427645	hsa-miR-3616-5p	CLIP-seq
MIRT2427646	hsa-miR-363	CLIP-seq
MIRT2427647	hsa-miR-3647-5p	CLIP-seq
MIRT903032	hsa-miR-3662	CLIP-seq
MIRT2427648	hsa-miR-367	CLIP-seq
MIRT1547153	hsa-miR-3690	CLIP-seq
MIRT903034	hsa-miR-3916	CLIP-seq
MIRT2427649	hsa-miR-4269	CLIP-seq
MIRT1547159	hsa-miR-4308	CLIP-seq
MIRT1547160	hsa-miR-4318	CLIP-seq
MIRT2427650	hsa-miR-4437	CLIP-seq
MIRT2386346	hsa-miR-4443	CLIP-seq
MIRT1547165	hsa-miR-4446-5p	CLIP-seq
MIRT1547167	hsa-miR-4465	CLIP-seq
MIRT1547168	hsa-miR-4474-3p	CLIP-seq
MIRT2427651	hsa-miR-4494	CLIP-seq
MIRT1547172	hsa-miR-4527	CLIP-seq
MIRT1547173	hsa-miR-4638-3p	CLIP-seq
MIRT2427652	hsa-miR-4645-5p	CLIP-seq
MIRT1547177	hsa-miR-4667-5p	CLIP-seq
MIRT2427653	hsa-miR-4670-3p	CLIP-seq
MIRT2427654	hsa-miR-4673	CLIP-seq
MIRT2427655	hsa-miR-4674	CLIP-seq
MIRT1547180	hsa-miR-4693-5p	CLIP-seq
MIRT1547181	hsa-miR-4700-5p	CLIP-seq
MIRT1547183	hsa-miR-4713-5p	CLIP-seq
MIRT2427656	hsa-miR-4719	CLIP-seq
MIRT1547184	hsa-miR-4722-5p	CLIP-seq
MIRT2427657	hsa-miR-4734	CLIP-seq
MIRT1547185	hsa-miR-4747-5p	CLIP-seq
MIRT2427658	hsa-miR-4755-3p	CLIP-seq
MIRT1547186	hsa-miR-4755-5p	CLIP-seq
MIRT2427659	hsa-miR-4768-3p	CLIP-seq
MIRT2427660	hsa-miR-4775	CLIP-seq
MIRT2427661	hsa-miR-4778-5p	CLIP-seq
MIRT2427662	hsa-miR-4803	CLIP-seq
MIRT2427663	hsa-miR-484	CLIP-seq
MIRT2427664	hsa-miR-488	CLIP-seq
MIRT2427665	hsa-miR-499a-5p	CLIP-seq
MIRT1547193	hsa-miR-506	CLIP-seq
MIRT2427666	hsa-miR-515-5p	CLIP-seq
MIRT2427667	hsa-miR-517b	CLIP-seq
MIRT2427668	hsa-miR-520a-5p	CLIP-seq
MIRT2427669	hsa-miR-525-5p	CLIP-seq
MIRT1547194	hsa-miR-532-3p	CLIP-seq
MIRT2427670	hsa-miR-548ah	CLIP-seq
MIRT2427671	hsa-miR-573	CLIP-seq
MIRT1547199	hsa-miR-581	CLIP-seq
MIRT2427672	hsa-miR-590-3p	CLIP-seq
MIRT1547204	hsa-miR-637	CLIP-seq
MIRT1547205	hsa-miR-642b	CLIP-seq
MIRT2427673	hsa-miR-650	CLIP-seq
MIRT1547207	hsa-miR-670	CLIP-seq
MIRT2427674	hsa-miR-760	CLIP-seq
MIRT1547208	hsa-miR-874	CLIP-seq
MIRT1547212	hsa-miR-892a	CLIP-seq
MIRT2427675	hsa-miR-92a	CLIP-seq
MIRT2427676	hsa-miR-92b	CLIP-seq
MIRT1547213	hsa-miR-939	CLIP-seq
MIRT2436314	hsa-miR-1271	CLIP-seq
MIRT2427632	hsa-miR-1273e	CLIP-seq
MIRT2436315	hsa-miR-1273f	CLIP-seq
MIRT1547119	hsa-miR-1286	CLIP-seq
MIRT2436316	hsa-miR-1301	CLIP-seq
MIRT2436317	hsa-miR-1343	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT1967773	hsa-miR-143	CLIP-seq
MIRT2427633	hsa-miR-182	CLIP-seq
MIRT903019	hsa-miR-1910	CLIP-seq
MIRT2427634	hsa-miR-1912	CLIP-seq
MIRT2427635	hsa-miR-1973	CLIP-seq
MIRT2436318	hsa-miR-2117	CLIP-seq
MIRT2436319	hsa-miR-2392	CLIP-seq
MIRT2436320	hsa-miR-31	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT1547138	hsa-miR-3130-5p	CLIP-seq
MIRT2436321	hsa-miR-3138	CLIP-seq
MIRT2436322	hsa-miR-3143	CLIP-seq
MIRT903025	hsa-miR-3178	CLIP-seq
MIRT1556190	hsa-miR-3180	CLIP-seq
MIRT1556191	hsa-miR-3180-3p	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT1556192	hsa-miR-3196	CLIP-seq
MIRT2436323	hsa-miR-335	CLIP-seq
MIRT2436324	hsa-miR-342-5p	CLIP-seq
MIRT2436325	hsa-miR-3607-5p	CLIP-seq
MIRT2436326	hsa-miR-3622a-5p	CLIP-seq
MIRT903033	hsa-miR-3667-3p	CLIP-seq
MIRT2436327	hsa-miR-3672	CLIP-seq
MIRT2436328	hsa-miR-378g	CLIP-seq
MIRT2436329	hsa-miR-3911	CLIP-seq
MIRT2436330	hsa-miR-3944-5p	CLIP-seq
MIRT2427649	hsa-miR-4269	CLIP-seq
MIRT2436331	hsa-miR-4273	CLIP-seq
MIRT2436332	hsa-miR-4423-3p	CLIP-seq
MIRT1967774	hsa-miR-4436a	CLIP-seq
MIRT2427650	hsa-miR-4437	CLIP-seq
MIRT903037	hsa-miR-4447	CLIP-seq
MIRT903038	hsa-miR-4448	CLIP-seq
MIRT2436333	hsa-miR-4455	CLIP-seq
MIRT2436334	hsa-miR-4463	CLIP-seq
MIRT903039	hsa-miR-4472	CLIP-seq
MIRT903041	hsa-miR-4479	CLIP-seq
MIRT1547169	hsa-miR-4482	CLIP-seq
MIRT2436335	hsa-miR-4487	CLIP-seq
MIRT903042	hsa-miR-4488	CLIP-seq
MIRT2436336	hsa-miR-4642	CLIP-seq
MIRT2427652	hsa-miR-4645-5p	CLIP-seq
MIRT2436337	hsa-miR-4649-5p	CLIP-seq
MIRT1547175	hsa-miR-4651	CLIP-seq
MIRT2436338	hsa-miR-4655-5p	CLIP-seq
MIRT2436339	hsa-miR-4660	CLIP-seq
MIRT2436340	hsa-miR-4664-5p	CLIP-seq
MIRT2427654	hsa-miR-4673	CLIP-seq
MIRT2427655	hsa-miR-4674	CLIP-seq
MIRT2436341	hsa-miR-4687-5p	CLIP-seq
MIRT903048	hsa-miR-4697-5p	CLIP-seq
MIRT2436342	hsa-miR-4708-5p	CLIP-seq
MIRT2436343	hsa-miR-4720-5p	CLIP-seq
MIRT1547184	hsa-miR-4722-5p	CLIP-seq
MIRT2436344	hsa-miR-4729	CLIP-seq
MIRT2436345	hsa-miR-4731-5p	CLIP-seq
MIRT2436346	hsa-miR-4750	CLIP-seq
MIRT2427658	hsa-miR-4755-3p	CLIP-seq
MIRT1967775	hsa-miR-4770	CLIP-seq
MIRT2427661	hsa-miR-4778-5p	CLIP-seq
MIRT2436347	hsa-miR-4786-5p	CLIP-seq
MIRT2436348	hsa-miR-4793-5p	CLIP-seq
MIRT2436349	hsa-miR-4799-3p	CLIP-seq
MIRT2436350	hsa-miR-4800-5p	CLIP-seq
MIRT2427664	hsa-miR-488	CLIP-seq
MIRT2427665	hsa-miR-499a-5p	CLIP-seq
MIRT2436351	hsa-miR-5047	CLIP-seq
MIRT2427666	hsa-miR-515-5p	CLIP-seq
MIRT2427667	hsa-miR-517b	CLIP-seq
MIRT2427668	hsa-miR-520a-5p	CLIP-seq
MIRT2427669	hsa-miR-525-5p	CLIP-seq
MIRT1547202	hsa-miR-608	CLIP-seq
MIRT2436352	hsa-miR-609	CLIP-seq
MIRT2436353	hsa-miR-629	CLIP-seq
MIRT1547204	hsa-miR-637	CLIP-seq
MIRT903056	hsa-miR-642a	CLIP-seq
MIRT2436354	hsa-miR-665	CLIP-seq
MIRT2436355	hsa-miR-769-5p	CLIP-seq
MIRT1547211	hsa-miR-890	CLIP-seq
MIRT903059	hsa-miR-9	CLIP-seq
MIRT2436356	hsa-miR-96	CLIP-seq
MIRT2436314	hsa-miR-1271	CLIP-seq
MIRT2436317	hsa-miR-1343	CLIP-seq
MIRT2427633	hsa-miR-182	CLIP-seq
MIRT2427635	hsa-miR-1973	CLIP-seq
MIRT2436320	hsa-miR-31	CLIP-seq
MIRT2436323	hsa-miR-335	CLIP-seq
MIRT2436327	hsa-miR-3672	CLIP-seq
MIRT2436328	hsa-miR-378g	CLIP-seq
MIRT2427650	hsa-miR-4437	CLIP-seq
MIRT2436334	hsa-miR-4463	CLIP-seq
MIRT2436336	hsa-miR-4642	CLIP-seq
MIRT2427655	hsa-miR-4674	CLIP-seq
MIRT2436343	hsa-miR-4720-5p	CLIP-seq
MIRT2436348	hsa-miR-4793-5p	CLIP-seq
MIRT2436349	hsa-miR-4799-3p	CLIP-seq
MIRT2427665	hsa-miR-499a-5p	CLIP-seq
MIRT2427666	hsa-miR-515-5p	CLIP-seq
MIRT2427667	hsa-miR-517b	CLIP-seq
MIRT2427668	hsa-miR-520a-5p	CLIP-seq
MIRT2427669	hsa-miR-525-5p	CLIP-seq
MIRT2436353	hsa-miR-629	CLIP-seq
MIRT903059	hsa-miR-9	CLIP-seq
MIRT2436356	hsa-miR-96	CLIP-seq
MIRT1547120	hsa-miR-129-5p	CLIP-seq
MIRT1547154	hsa-miR-3974	CLIP-seq
MIRT1547191	hsa-miR-493	CLIP-seq
MIRT1547120	hsa-miR-129-5p	CLIP-seq
MIRT1547154	hsa-miR-3974	CLIP-seq
MIRT1547191	hsa-miR-493	CLIP-seq
MIRT1547114	hsa-miR-1205	CLIP-seq
MIRT2506631	hsa-miR-122	CLIP-seq
MIRT2436314	hsa-miR-1271	CLIP-seq
MIRT2427632	hsa-miR-1273e	CLIP-seq
MIRT2436315	hsa-miR-1273f	CLIP-seq
MIRT1547119	hsa-miR-1286	CLIP-seq
MIRT1547120	hsa-miR-129-5p	CLIP-seq
MIRT1547121	hsa-miR-1297	CLIP-seq
MIRT1547122	hsa-miR-1305	CLIP-seq
MIRT2436317	hsa-miR-1343	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT1967773	hsa-miR-143	CLIP-seq
MIRT1547124	hsa-miR-147	CLIP-seq
MIRT2427633	hsa-miR-182	CLIP-seq
MIRT903018	hsa-miR-1827	CLIP-seq
MIRT2506632	hsa-miR-185	CLIP-seq
MIRT903019	hsa-miR-1910	CLIP-seq
MIRT2506633	hsa-miR-2053	CLIP-seq
MIRT2506634	hsa-miR-218	CLIP-seq
MIRT1547130	hsa-miR-26a	CLIP-seq
MIRT1547131	hsa-miR-26b	CLIP-seq
MIRT2436320	hsa-miR-31	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT1547138	hsa-miR-3130-5p	CLIP-seq
MIRT2506635	hsa-miR-3145-5p	CLIP-seq
MIRT1547141	hsa-miR-3148	CLIP-seq
MIRT1556190	hsa-miR-3180	CLIP-seq
MIRT1556191	hsa-miR-3180-3p	CLIP-seq
MIRT2506636	hsa-miR-3180-5p	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT1556192	hsa-miR-3196	CLIP-seq
MIRT2506637	hsa-miR-323-3p	CLIP-seq
MIRT2436323	hsa-miR-335	CLIP-seq
MIRT2436326	hsa-miR-3622a-5p	CLIP-seq
MIRT903030	hsa-miR-3622b-5p	CLIP-seq
MIRT1547152	hsa-miR-3671	CLIP-seq
MIRT2506638	hsa-miR-3676	CLIP-seq
MIRT2506639	hsa-miR-3689d	CLIP-seq
MIRT2436328	hsa-miR-378g	CLIP-seq
MIRT1547154	hsa-miR-3974	CLIP-seq
MIRT1547155	hsa-miR-3978	CLIP-seq
MIRT2506640	hsa-miR-4254	CLIP-seq
MIRT2506641	hsa-miR-4289	CLIP-seq
MIRT2506642	hsa-miR-4306	CLIP-seq
MIRT1547159	hsa-miR-4308	CLIP-seq
MIRT1547161	hsa-miR-4419a	CLIP-seq
MIRT2436332	hsa-miR-4423-3p	CLIP-seq
MIRT1967774	hsa-miR-4436a	CLIP-seq
MIRT2427650	hsa-miR-4437	CLIP-seq
MIRT2386346	hsa-miR-4443	CLIP-seq
MIRT2506643	hsa-miR-4459	CLIP-seq
MIRT1547167	hsa-miR-4465	CLIP-seq
MIRT1547169	hsa-miR-4482	CLIP-seq
MIRT1547170	hsa-miR-4510	CLIP-seq
MIRT1547171	hsa-miR-4514	CLIP-seq
MIRT903044	hsa-miR-4523	CLIP-seq
MIRT2436336	hsa-miR-4642	CLIP-seq
MIRT2506644	hsa-miR-4644	CLIP-seq
MIRT2506645	hsa-miR-4653-3p	CLIP-seq
MIRT903046	hsa-miR-4654	CLIP-seq
MIRT2436338	hsa-miR-4655-5p	CLIP-seq
MIRT2427655	hsa-miR-4674	CLIP-seq
MIRT2436341	hsa-miR-4687-5p	CLIP-seq
MIRT1547179	hsa-miR-4692	CLIP-seq
MIRT2506646	hsa-miR-4694-3p	CLIP-seq
MIRT2436342	hsa-miR-4708-5p	CLIP-seq
MIRT2436343	hsa-miR-4720-5p	CLIP-seq
MIRT1547184	hsa-miR-4722-5p	CLIP-seq
MIRT2506647	hsa-miR-4757-5p	CLIP-seq
MIRT1547187	hsa-miR-4762-5p	CLIP-seq
MIRT903051	hsa-miR-4769-5p	CLIP-seq
MIRT1967775	hsa-miR-4770	CLIP-seq
MIRT2506648	hsa-miR-4779	CLIP-seq
MIRT2436348	hsa-miR-4793-5p	CLIP-seq
MIRT2436349	hsa-miR-4799-3p	CLIP-seq
MIRT2506649	hsa-miR-4799-5p	CLIP-seq
MIRT2506650	hsa-miR-490-5p	CLIP-seq
MIRT1547191	hsa-miR-493	CLIP-seq
MIRT2427665	hsa-miR-499a-5p	CLIP-seq
MIRT2506651	hsa-miR-508-5p	CLIP-seq
MIRT2427666	hsa-miR-515-5p	CLIP-seq
MIRT2427668	hsa-miR-520a-5p	CLIP-seq
MIRT2506652	hsa-miR-522	CLIP-seq
MIRT2427669	hsa-miR-525-5p	CLIP-seq
MIRT903054	hsa-miR-541	CLIP-seq
MIRT2506653	hsa-miR-548ac	CLIP-seq
MIRT2506654	hsa-miR-548ae	CLIP-seq
MIRT2506655	hsa-miR-548aj	CLIP-seq
MIRT2506656	hsa-miR-548am	CLIP-seq
MIRT2506657	hsa-miR-548d-3p	CLIP-seq
MIRT2506658	hsa-miR-548x	CLIP-seq
MIRT2506659	hsa-miR-548z	CLIP-seq
MIRT2506660	hsa-miR-574-5p	CLIP-seq
MIRT1547199	hsa-miR-581	CLIP-seq
MIRT1547201	hsa-miR-607	CLIP-seq
MIRT2506661	hsa-miR-636	CLIP-seq
MIRT2506662	hsa-miR-648	CLIP-seq
MIRT903057	hsa-miR-654-5p	CLIP-seq
MIRT2436354	hsa-miR-665	CLIP-seq
MIRT903058	hsa-miR-885-3p	CLIP-seq
MIRT1547211	hsa-miR-890	CLIP-seq
MIRT903059	hsa-miR-9	CLIP-seq
MIRT2436356	hsa-miR-96	CLIP-seq
MIRT1547114	hsa-miR-1205	CLIP-seq
MIRT2506631	hsa-miR-122	CLIP-seq
MIRT2427632	hsa-miR-1273e	CLIP-seq
MIRT2436315	hsa-miR-1273f	CLIP-seq
MIRT1547119	hsa-miR-1286	CLIP-seq
MIRT1547121	hsa-miR-1297	CLIP-seq
MIRT1547122	hsa-miR-1305	CLIP-seq
MIRT756170	hsa-miR-137	CLIP-seq
MIRT1967773	hsa-miR-143	CLIP-seq
MIRT1547124	hsa-miR-147	CLIP-seq
MIRT903018	hsa-miR-1827	CLIP-seq
MIRT2506632	hsa-miR-185	CLIP-seq
MIRT903019	hsa-miR-1910	CLIP-seq
MIRT2427635	hsa-miR-1973	CLIP-seq
MIRT2506633	hsa-miR-2053	CLIP-seq
MIRT2506634	hsa-miR-218	CLIP-seq
MIRT1547130	hsa-miR-26a	CLIP-seq
MIRT1547131	hsa-miR-26b	CLIP-seq
MIRT1547137	hsa-miR-3119	CLIP-seq
MIRT1547138	hsa-miR-3130-5p	CLIP-seq
MIRT2436322	hsa-miR-3143	CLIP-seq
MIRT2506635	hsa-miR-3145-5p	CLIP-seq
MIRT1547141	hsa-miR-3148	CLIP-seq
MIRT1556190	hsa-miR-3180	CLIP-seq
MIRT1556191	hsa-miR-3180-3p	CLIP-seq
MIRT903027	hsa-miR-3188	CLIP-seq
MIRT1556192	hsa-miR-3196	CLIP-seq
MIRT2678424	hsa-miR-3200-3p	CLIP-seq
MIRT2506637	hsa-miR-323-3p	CLIP-seq
MIRT2436326	hsa-miR-3622a-5p	CLIP-seq
MIRT1547152	hsa-miR-3671	CLIP-seq
MIRT2436327	hsa-miR-3672	CLIP-seq
MIRT2506638	hsa-miR-3676	CLIP-seq
MIRT2506639	hsa-miR-3689d	CLIP-seq
MIRT1547155	hsa-miR-3978	CLIP-seq
MIRT2506640	hsa-miR-4254	CLIP-seq
MIRT2427649	hsa-miR-4269	CLIP-seq
MIRT2506641	hsa-miR-4289	CLIP-seq
MIRT2506642	hsa-miR-4306	CLIP-seq
MIRT1547159	hsa-miR-4308	CLIP-seq
MIRT1547161	hsa-miR-4419a	CLIP-seq
MIRT2436332	hsa-miR-4423-3p	CLIP-seq
MIRT1967774	hsa-miR-4436a	CLIP-seq
MIRT2386346	hsa-miR-4443	CLIP-seq
MIRT2506643	hsa-miR-4459	CLIP-seq
MIRT2436334	hsa-miR-4463	CLIP-seq
MIRT1547167	hsa-miR-4465	CLIP-seq
MIRT1547169	hsa-miR-4482	CLIP-seq
MIRT1547170	hsa-miR-4510	CLIP-seq
MIRT1547171	hsa-miR-4514	CLIP-seq
MIRT903044	hsa-miR-4523	CLIP-seq
MIRT2506644	hsa-miR-4644	CLIP-seq
MIRT2427652	hsa-miR-4645-5p	CLIP-seq
MIRT2506645	hsa-miR-4653-3p	CLIP-seq
MIRT903046	hsa-miR-4654	CLIP-seq
MIRT2436338	hsa-miR-4655-5p	CLIP-seq
MIRT2427654	hsa-miR-4673	CLIP-seq
MIRT2436341	hsa-miR-4687-5p	CLIP-seq
MIRT1547179	hsa-miR-4692	CLIP-seq
MIRT2506646	hsa-miR-4694-3p	CLIP-seq
MIRT2436342	hsa-miR-4708-5p	CLIP-seq
MIRT1547184	hsa-miR-4722-5p	CLIP-seq
MIRT2678425	hsa-miR-4724-3p	CLIP-seq
MIRT2436344	hsa-miR-4729	CLIP-seq
MIRT2427658	hsa-miR-4755-3p	CLIP-seq
MIRT2506647	hsa-miR-4757-5p	CLIP-seq
MIRT1547187	hsa-miR-4762-5p	CLIP-seq
MIRT903051	hsa-miR-4769-5p	CLIP-seq
MIRT1967775	hsa-miR-4770	CLIP-seq
MIRT2506648	hsa-miR-4779	CLIP-seq
MIRT2506649	hsa-miR-4799-5p	CLIP-seq
MIRT2427664	hsa-miR-488	CLIP-seq
MIRT2506650	hsa-miR-490-5p	CLIP-seq
MIRT2506651	hsa-miR-508-5p	CLIP-seq
MIRT2427667	hsa-miR-517b	CLIP-seq
MIRT2506652	hsa-miR-522	CLIP-seq
MIRT903054	hsa-miR-541	CLIP-seq
MIRT2506653	hsa-miR-548ac	CLIP-seq
MIRT2506654	hsa-miR-548ae	CLIP-seq
MIRT2506655	hsa-miR-548aj	CLIP-seq
MIRT2506656	hsa-miR-548am	CLIP-seq
MIRT2506657	hsa-miR-548d-3p	CLIP-seq
MIRT2506658	hsa-miR-548x	CLIP-seq
MIRT2506659	hsa-miR-548z	CLIP-seq
MIRT2506660	hsa-miR-574-5p	CLIP-seq
MIRT1547199	hsa-miR-581	CLIP-seq
MIRT1547201	hsa-miR-607	CLIP-seq
MIRT2436353	hsa-miR-629	CLIP-seq
MIRT2506661	hsa-miR-636	CLIP-seq
MIRT2506662	hsa-miR-648	CLIP-seq
MIRT903057	hsa-miR-654-5p	CLIP-seq
MIRT2436354	hsa-miR-665	CLIP-seq
MIRT903058	hsa-miR-885-3p	CLIP-seq
MIRT1547211	hsa-miR-890	CLIP-seq
MIRT903059	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005178	Function	Integrin binding	NAS	14970208
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	20979576, 28514442, 33961781
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:0005588	Component	Collagen type V trimer	IBA
GO:0005588	Component	Collagen type V trimer	IMP	9683580
GO:0005588	Component	Collagen type V trimer	NAS	37158802
GO:0005588	Component	Collagen type V trimer	TAS	9042913
GO:0005592	Component	Collagen type XI trimer	TAS	20705069
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IMP	18305566
GO:0008201	Function	Heparin binding	IDA	2203476
GO:0008201	Function	Heparin binding	IEA
GO:0016477	Process	Cell migration	IMP	18305566
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	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	9683580, 11278977, 15095409
GO:0030199	Process	Collagen fibril organization	NAS	16430677, 37158802
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	IMP	14970208
GO:0032964	Process	Collagen biosynthetic process	IMP	11278977, 15095409
GO:0035313	Process	Wound healing, spreading of epidermal cells	IMP	18305566
GO:0035989	Process	Tendon development	IEA
GO:0043394	Function	Proteoglycan binding	IPI	9099729
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	IMP	9683580
GO:0045112	Process	Integrin biosynthetic process	IMP	18305566
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048592	Process	Eye morphogenesis	IMP	16431952
GO:0051128	Process	Regulation of cellular component organization	IEA
GO:0097435	Process	Supramolecular fiber organization	IMP	14970208
GO:1903225	Process	Negative regulation of endodermal cell differentiation	IDA	23154389

Other IDs

• MIM: 120215
• HGNC: 2209
• e!Ensembl: ENSG00000130635

Protein

• UniProt ID: P20908
• Protein name: Collagen alpha-1(V) chain
• Protein function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
• PDB: 7Y37
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	467 → 519	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	557 → 618	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	742 → 810	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1465 → 1531	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1513 → 1575	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1607 → 1836	Fibrillar collagen C-terminal domain	Family

• Sequence:

  MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
  FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
  NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
  LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
  SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
  KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
  EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
  YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
  GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
  AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
  GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
  GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
  GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
  GPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED
  GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
  GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
  GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
  GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
  GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
  GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
  GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
  GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
  GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
  GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
  GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
  GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
  GPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
  EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
  VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
  NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
  EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG

• Sequence length: 1838

Pathways

KEGG:

Cytoskeleton in muscle cells
Protein digestion and absorption

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atrophic scars	Likely pathogenic	rs1554726245	RCV000626598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cigarette-paper scars	Likely pathogenic	rs1554726245	RCV000626598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL5A1-related disorder	Pathogenic; Likely pathogenic	rs794727760, rs2490690864, rs2490665880, rs2490501351	RCV003398899 RCV003397469 RCV003982738 RCV003982557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic	rs1554787779	RCV000659441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic; Pathogenic	rs2132830435, rs2132848217, rs2132854041, rs2132879262, rs2132887747, rs786205101, rs886042045, rs886042173, rs2490851696, rs121912933, rs2490819831, rs2490880778, rs1131691996, rs1179967153, rs1588562135, rs758337699	RCV002277996 RCV002277999 RCV002278000 RCV002278005 RCV002278006 RCV002278009 RCV003987487 RCV002278263 RCV003317695 RCV002276558 RCV004018134 RCV004587693 RCV002279271 RCV003330852 RCV002279550 RCV003398984	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type	Likely pathogenic; Pathogenic	rs2490886728, rs80338764, rs2490762730, rs1057518653, rs1057519596, rs1554796176, rs786205100, rs1554781678, rs1564481053, rs776640704, rs1588597744, rs1588477255, rs1588621711, rs1838169083, rs1319735007, rs1838416489	RCV003123354 RCV000032107 RCV003994712 RCV000415258 RCV000417109 RCV001218966 RCV000531960 RCV000582677 RCV000760147 RCV000795511 RCV000988286 RCV001003518 RCV001027819 RCV001221478 RCV003328478 RCV001257136	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type, 1	Likely pathogenic; Pathogenic	rs1839542247, rs1831316527, rs2132682690, rs2132690733, rs2132569651, rs2132569692, rs2132802457, rs2132838808, rs1307084213, rs2132845192, rs748870349, rs2132856138, rs2132864123, rs2132864295, rs2132884146, rs2132887783, rs2132925550, rs2132925640, rs2132926166, rs1837403402, rs2132717812, rs2132943056, rs2132943031, rs1488498065, rs2132925682, rs2132639011, rs2132874649, rs2132632978, rs2132690786, rs2132848313, rs2132455136, rs2132683277, rs2132844990, rs2132455125, rs2132689832, rs2132841152, rs2132573338, rs2132864849, rs2132683271, rs777506210, rs2132864836, rs2132883536, rs2132864817, rs2132454722, rs2132728639, rs866122374, rs2132822152, rs895691193, rs786205101, rs1554787526, rs2490930223, rs2490487778, rs2490536330, rs1313151909, rs2490501961, rs2490492592, rs2490761744, rs2490801072, rs2490880088, rs2490856978, rs2491093547, rs1060502248, rs2490774017, rs2490774154, rs2490873601, rs2490660155, rs863223444, rs863223469, rs863223478, rs863223473, rs2490851746, rs863223458, rs863223475, rs2491264758, rs2490683549, rs2490823809, rs2490785356, rs112682210, rs2490865523, rs2490588050, rs1833616245, rs866225395, rs2490715052, rs2490886728, rs2490653678, rs2490724038, rs886042045, rs886042173, rs2490810383, rs2490728660, rs2490664456, rs2490841432, rs2490683572, rs2490850927, rs2490535036, rs2490487316, rs2490818488, rs2490818556, rs2490653790, rs998985081, rs2490908359, rs2490588301, rs2490796747, rs80338764, rs2490706084, rs2490810702, rs2491093552, rs2490851840, rs2490773984, rs2490930881, rs2490953083, rs2490865574, rs2490800891, rs2490659920, rs2490849576, rs2490664696, rs2491240183, rs2490886144, rs2490845453, rs2490849827, rs2490873793, rs2491263327, rs786200922, rs786200923, rs183495554, rs765079080, rs786205100, rs121912933, rs786205102, rs1202896735, rs2490851912, rs387906606, rs1060502255, rs1060502259, rs1060502242, rs769752636, rs1060502258, rs764693725, rs1060502250, rs1064796684, rs1085307855, rs1131691820, rs1131691996, rs1554792011, rs1554805142, rs1554808357, rs1554726279, rs1554803622, rs1554807812, rs1554788339, rs1554781678, rs1554787557, rs1554792869, rs1554787811, rs1179967153, rs1554726283, rs1564471440, rs1564475090, rs1564478485, rs1564455577, rs35002351, rs1564191704, rs1564457102, rs1564482508, rs1564487306, rs1564418237, rs1564446117, rs1564453831, rs1564453833, rs1564481053, rs1588448655, rs1588449879, rs1032017865, rs1588551159, rs1588589663, rs1219304070, rs1588615658, rs1588551226, rs1588562135, rs1588577214, rs1588477255, rs1588621711, rs1833261804, rs1834751333, rs1834837756, rs201625736, rs1837406273, rs1838291478, rs1838729952, rs1838935159, rs1838936100, rs1839084095, rs1839803841, rs1835753446, rs1833255504, rs1835194865, rs1835880166, rs1837444858, rs1839245948, rs1319735007, rs758337699, rs1833258579, rs144844792, rs1834879370, rs1830124408, rs1836462685, rs1839537297	RCV001328773 RCV002242632 RCV002242787 RCV002242874 RCV002242902 RCV002242997 RCV002242850 RCV002242844 RCV002242814 RCV002242837 RCV002242824 RCV002242811 RCV002242825 RCV002242915 RCV002242994 RCV002242886 RCV002242800 RCV002242836 RCV002242885 RCV001839467 RCV001867281 RCV001965192 RCV001905823 RCV001874259 RCV001992364 RCV002013293 RCV001906883 RCV001893383 RCV001990175 RCV001960710 RCV001942041 RCV001906353 RCV001951003 RCV001951090 RCV001945031 RCV001925457 RCV001972838 RCV001956071 RCV001904682 RCV001992226 RCV001947051 RCV001956546 RCV001958697 RCV001895245 RCV002053875 RCV002249825 RCV002249826 RCV002274284 RCV003594181 RCV002288426 RCV002289122 RCV002290382 RCV002470662 RCV003058241 RCV002825354 RCV002811132 RCV002838085 RCV002846966 RCV002837965 RCV002833966 RCV002829454 RCV002880251 RCV002867205 RCV002881336 RCV002847219 RCV002867489 RCV002054291 RCV001857716 RCV002229465 RCV002229462 RCV002877297 RCV002229055 RCV002492887 RCV002938029 RCV002994852 RCV003010201 RCV003003310 RCV003020694 RCV003045192 RCV003052536 RCV003064040 RCV003063932 RCV003104184 RCV003123354 RCV005099368 RCV003228770 RCV002229736 RCV002229740 RCV003234846 RCV003314256 RCV003322718 RCV003388241 RCV003448523 RCV003594724 RCV003594796 RCV003594876 RCV003594877 RCV003594782 RCV003594715 RCV003595294 RCV003593550 RCV003593380 RCV003593381 RCV003593382 RCV003593748 RCV003593772 RCV003593689 RCV003593787 RCV003594374 RCV003594504 RCV003594583 RCV003594391 RCV003594474 RCV003760863 RCV003760896 RCV003760847 RCV003761084 RCV003760998 RCV003761056 RCV003758309 RCV003758572 RCV003759170 RCV003759287 RCV003761195 RCV000018723 RCV000018724 RCV001290029 RCV000018727 RCV001290028 RCV000018730 RCV000018731 RCV000018732 RCV000018733 RCV003994784 RCV004555727 RCV004586457 RCV001290027 RCV002230383 RCV002230834 RCV002230820 RCV002230373 RCV002230833 RCV002230384 RCV002230825 RCV002230378 RCV005056059 RCV002250640 RCV002231629 RCV002527112 RCV002231640 RCV002231046 RCV002231296 RCV002231290 RCV002231307 RCV002231308 RCV002231292 RCV002231304 RCV005864518 RCV002530825 RCV005091585 RCV002233019 RCV002533159 RCV002233961 RCV002234432 RCV002232885 RCV002232877 RCV002233603 RCV002233121 RCV002233285 RCV002233174 RCV002233370 RCV002233612 RCV002234099 RCV002232972 RCV002233408 RCV002232824 RCV002232889 RCV004555594 RCV002235355 RCV002234711 RCV002235371 RCV002235096 RCV002235423 RCV002235068 RCV002536929 RCV002235400 RCV002235394 RCV002235396 RCV002549215 RCV001873429 RCV002240232 RCV002240620 RCV002240355 RCV002239336 RCV002240491 RCV002240508 RCV002240365 RCV002240569 RCV002240316 RCV002240161 RCV002240218 RCV002239299 RCV002239384 RCV002240572 RCV005094088 RCV002241071 RCV002240844 RCV002241243 RCV002241582 RCV002241442 RCV002499430 RCV002241626 RCV002564002 RCV002241796 RCV002241802 RCV002564114	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, classic type, 2	Pathogenic; Likely pathogenic	rs1837850102, rs1839191116	RCV001196398 RCV001195885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs2132887747, rs786205101, rs2491093863, rs764693725, rs863223444, rs863223478, rs863223473, rs2132865321, rs786200923, rs1057518653, rs387906606, rs1131691996, rs1554799402, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1588477255, rs758337699	RCV005321146 RCV002363741 RCV002351639 RCV002442263 RCV004020352 RCV004609326 RCV002444788 RCV003301401 RCV005318311 RCV002348135 RCV005318313 RCV004822077 RCV000600683 RCV002314230 RCV002314228 RCV002314242 RCV002314260 RCV004030273 RCV002322109	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibromuscular dysplasia, multifocal	Pathogenic; Likely pathogenic	rs2132728639, rs863223475, rs1588621711, rs1833258579	RCV003228050 RCV002492887 RCV003224809 RCV002499430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperextensible skin	Likely pathogenic	rs1554726245	RCV000626598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joint hypermobility	Likely pathogenic	rs1554726245	RCV000626598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Large joint dislocations	Likely pathogenic	rs1554726245	RCV000626598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thoracic aortic aneurysm or dissection	Pathogenic	rs863223478	RCV004786521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal digit morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic dilatation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic valve disease 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL EHLERS-DANLOS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Confusion	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ABNORMALITY OF VEIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dural ectasia	Uncertain significance	ClinVar	★★☆☆☆ 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	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 7A	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertelorism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoparathyroidism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder with or without autism or seizures	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHIC SPINAL ARTHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURE, SPONTANEOUS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shoulder subluxation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	21611149		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29702185		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	26918470	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	34572072	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	33414558	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32778054	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Type 2B	Autoimmune Lymphoproliferative Disorder	GENOMICS_ENGLAND_DG	9042913		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	33124559	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	25845371		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	37427422	Associate	★☆☆☆☆ Found in Text Mining only
Bowel diverticulosis	Bowel diverticulosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	37427422	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31888563	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26403314, 29568948, 31059074		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31059074, 34541602, 35741056	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	LHGDN	17965778		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31059074		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29568948		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31551469		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	24966028, 25173489		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical Ehlers-Danlos syndrome	Classical-Like Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collagenopathy type 2 alpha 1	Collagenopathy	Pubtator	37427422	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32356618	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	BEFREE	24702222		★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	21611149		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	8462976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30799953, 31814889		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	23665963	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36527108	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	32756921	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	10602121, 10777716, 10796876, 11278977, 11992482, 12145749, 14970208, 15095409, 16431952, 18305566, 18972565, 19370768, 19422640, 20635400, 21611149, 23491141, 25987251, 28387435, 29520887, 30246406, 31239369, 8541855, 8673139, 8752669, 8923000, 8950675, 9042913, 9499606		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	12145749, 14970208, 18305566		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome classic type	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	25845371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 1	Ehlers-Danlos Syndrome	BEFREE	12145749, 8752669, 8923000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 1	Ehlers-Danlos Syndrome	CTD_human_DG	20635400, 8752669, 9042913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 1	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	9042913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	BEFREE	7759113, 8541855, 9683580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	CTD_human_DG	8752669, 9042913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	9042913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	Ehlers-Danlos Syndrome	ORPHANET_DG	15580559, 22696272		★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	UNIPROT_DG	10602121, 11992482, 15580559, 18972565, 9042913		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	19344236, 22696272, 23587214, 7695699, 8218237		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	Classical-Like Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	23587214, 29543232, 9042913		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	23587214, 26633545		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32641130	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31485619	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	37884635	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibroadenoma	Fibroadenoma	BEFREE	29568948		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28453375, 28894971		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30497369	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31104065, 35082969	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	36656851	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38485322	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33161638	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	33161638	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	7759113		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hip Dislocation, Congenital	Congenital Hip dislocation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36869404	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39913285	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	8673139		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	26403314		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27535281	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	34572072	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26918470, 32938213	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	29568948		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	23513063, 24265017, 25675348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	Pubtator	23513063, 26040312, 28207827, 32246022, 34625056	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kleefstra Syndrome	Kleefstra syndrome	Pubtator	38485322	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22132895	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31888563	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26403314, 29568948, 31059074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31059074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26774142		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31059074		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23108408		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32720739	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36523602	Associate	★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia Schmid type	Metaphyseal chondrodysplasia	Pubtator	28440393	Associate	★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	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	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	21549012, 22297602	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37884635	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	1572660, 7759113, 8154501, 8462976		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29568948, 30799953		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32832544	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	31239369		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	31239369	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31059074		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30448260, 31059074	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33791366	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31663982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	31663982	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	24476546		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38497425	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38221616	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31814889		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30572822, 31444797		★☆☆☆☆ Found in Text Mining only
Rupture of artery	Rupture Of Artery	BEFREE	20635400		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	21611149	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	21611149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shagreen patch	Shagreen patch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28176846	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26239836		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30972812		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26774142		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30948703, 32293980, 35328635, 35739492	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	17261551, 17870670, 18353721, 19042922		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30572540	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35152572	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36609218	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36609218	Associate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	32303186	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	7759113		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29854840, 30689556, 30723390, 32390597, 33035117	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36683048	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only