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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7045
Gene name	Transforming growth factor beta induced
Gene symbol	TGFBI
Synonyms (NCBI Gene)	BIGH3CDB1CDG2CDGG1CSDCSD1CSD2CSD3EBMDLCD1
Chromosome	5
Chromosome location	5q31.1
Summary	This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein pl

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121909208	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909209	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909210	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909211	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909212	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909214	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909215	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909216	T>G	Pathogenic	Coding sequence variant, missense variant
rs121909217	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs267607109	C>A	Pathogenic	Missense variant, coding sequence variant
rs267607110	C>A	Pathogenic	Missense variant, coding sequence variant

561

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001208	hsa-miR-21-5p	Luciferase reporter assayWestern blot	19136465
MIRT006894	hsa-miR-9-5p	In situ hybridizationLuciferase reporter assay	21720722
MIRT028431	hsa-miR-30a-5p	Proteomics	18668040
MIRT028995	hsa-miR-26b-5p	Microarray	19088304
MIRT001208	hsa-miR-21-5p	Microarray	18591254
MIRT031494	hsa-miR-16-5p	Proteomics	18668040
MIRT437499	hsa-miR-675-5p	Luciferase reporter assayQRTPCRWestern blot	24988946
MIRT721075	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT721074	hsa-miR-1322	HITS-CLIP	19536157
MIRT715374	hsa-miR-4267	HITS-CLIP	19536157
MIRT721073	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT721072	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT721071	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721070	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT721069	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT715377	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT715376	hsa-miR-5588-3p	HITS-CLIP	19536157
MIRT715375	hsa-miR-5690	HITS-CLIP	19536157
MIRT715374	hsa-miR-4267	HITS-CLIP	19536157
MIRT715373	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715372	hsa-miR-145-5p	HITS-CLIP	19536157
MIRT715371	hsa-miR-5195-3p	HITS-CLIP	19536157
MIRT715370	hsa-miR-7977	HITS-CLIP	19536157
MIRT715369	hsa-miR-6070	HITS-CLIP	19536157
MIRT733615	hsa-miR-210-3p	qRT-PCRWestern blotting	34197482
MIRT721075	hsa-miR-580-5p	HITS-CLIP	19536157
MIRT721074	hsa-miR-1322	HITS-CLIP	19536157
MIRT715374	hsa-miR-4267	HITS-CLIP	19536157
MIRT721073	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT721072	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT721071	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721070	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT721069	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT715377	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT715376	hsa-miR-5588-3p	HITS-CLIP	19536157
MIRT715375	hsa-miR-5690	HITS-CLIP	19536157
MIRT715374	hsa-miR-4267	HITS-CLIP	19536157
MIRT715373	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715372	hsa-miR-145-5p	HITS-CLIP	19536157
MIRT715371	hsa-miR-5195-3p	HITS-CLIP	19536157
MIRT715370	hsa-miR-7977	HITS-CLIP	19536157
MIRT715369	hsa-miR-6070	HITS-CLIP	19536157
MIRT1421168	hsa-miR-1225-3p	CLIP-seq
MIRT1421169	hsa-miR-1233	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421171	hsa-miR-1273e	CLIP-seq
MIRT1421172	hsa-miR-1287	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1421174	hsa-miR-132	CLIP-seq
MIRT1421175	hsa-miR-19a	CLIP-seq
MIRT1421176	hsa-miR-19b	CLIP-seq
MIRT1421177	hsa-miR-212	CLIP-seq
MIRT1421178	hsa-miR-2467-5p	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421180	hsa-miR-3158-3p	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421182	hsa-miR-3188	CLIP-seq
MIRT1421183	hsa-miR-3190	CLIP-seq
MIRT1421184	hsa-miR-3200-5p	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT1421187	hsa-miR-34a	CLIP-seq
MIRT1421188	hsa-miR-34c-5p	CLIP-seq
MIRT1421189	hsa-miR-3652	CLIP-seq
MIRT1421190	hsa-miR-3909	CLIP-seq
MIRT1421191	hsa-miR-3975	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1421193	hsa-miR-4307	CLIP-seq
MIRT1421194	hsa-miR-4323	CLIP-seq
MIRT1421195	hsa-miR-4430	CLIP-seq
MIRT1421196	hsa-miR-449a	CLIP-seq
MIRT1421197	hsa-miR-449b	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421201	hsa-miR-4708-3p	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT1421204	hsa-miR-4758-3p	CLIP-seq
MIRT1421205	hsa-miR-485-5p	CLIP-seq
MIRT1421206	hsa-miR-520d-5p	CLIP-seq
MIRT1421207	hsa-miR-524-5p	CLIP-seq
MIRT1421208	hsa-miR-548a-3p	CLIP-seq
MIRT1421209	hsa-miR-548ae	CLIP-seq
MIRT1421210	hsa-miR-548aj	CLIP-seq
MIRT1421211	hsa-miR-548am	CLIP-seq
MIRT1421212	hsa-miR-548e	CLIP-seq
MIRT1421213	hsa-miR-548f	CLIP-seq
MIRT1421214	hsa-miR-548g	CLIP-seq
MIRT1421215	hsa-miR-548x	CLIP-seq
MIRT1421216	hsa-miR-556-5p	CLIP-seq
MIRT1421217	hsa-miR-593	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT1554562	hsa-miR-103b	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1554563	hsa-miR-1305	CLIP-seq
MIRT1421174	hsa-miR-132	CLIP-seq
MIRT1554564	hsa-miR-142-3p	CLIP-seq
MIRT1554565	hsa-miR-181a	CLIP-seq
MIRT1554566	hsa-miR-181b	CLIP-seq
MIRT1554567	hsa-miR-181c	CLIP-seq
MIRT1554568	hsa-miR-181d	CLIP-seq
MIRT1554569	hsa-miR-21	CLIP-seq
MIRT1421177	hsa-miR-212	CLIP-seq
MIRT1554570	hsa-miR-22	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421183	hsa-miR-3190	CLIP-seq
MIRT1421184	hsa-miR-3200-5p	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT1554571	hsa-miR-374a	CLIP-seq
MIRT1554572	hsa-miR-374b	CLIP-seq
MIRT1554573	hsa-miR-4251	CLIP-seq
MIRT1554574	hsa-miR-4262	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1554575	hsa-miR-4329	CLIP-seq
MIRT1554576	hsa-miR-4473	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1554577	hsa-miR-4691-5p	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1554578	hsa-miR-4730	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT1554579	hsa-miR-486-5p	CLIP-seq
MIRT1554580	hsa-miR-512-3p	CLIP-seq
MIRT1554581	hsa-miR-514	CLIP-seq
MIRT1554582	hsa-miR-514b-3p	CLIP-seq
MIRT1554583	hsa-miR-520f	CLIP-seq
MIRT1554584	hsa-miR-539	CLIP-seq
MIRT1554585	hsa-miR-543	CLIP-seq
MIRT1554586	hsa-miR-558	CLIP-seq
MIRT1554587	hsa-miR-570	CLIP-seq
MIRT1554588	hsa-miR-590-5p	CLIP-seq
MIRT1421217	hsa-miR-593	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1421175	hsa-miR-19a	CLIP-seq
MIRT1421176	hsa-miR-19b	CLIP-seq
MIRT2126379	hsa-miR-2909	CLIP-seq
MIRT1421180	hsa-miR-3158-3p	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT1421190	hsa-miR-3909	CLIP-seq
MIRT2126380	hsa-miR-4278	CLIP-seq
MIRT1421201	hsa-miR-4708-3p	CLIP-seq
MIRT2126381	hsa-miR-4716-3p	CLIP-seq
MIRT2126382	hsa-miR-4716-5p	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1421206	hsa-miR-520d-5p	CLIP-seq
MIRT1421207	hsa-miR-524-5p	CLIP-seq
MIRT2126383	hsa-miR-625	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT2348392	hsa-miR-3691-3p	CLIP-seq
MIRT1421190	hsa-miR-3909	CLIP-seq
MIRT2348393	hsa-miR-3913-3p	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1421193	hsa-miR-4307	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT2348394	hsa-miR-489	CLIP-seq
MIRT2348395	hsa-miR-544	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT1421170	hsa-miR-1257	CLIP-seq
MIRT1421173	hsa-miR-1299	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421181	hsa-miR-3183	CLIP-seq
MIRT1421185	hsa-miR-326	CLIP-seq
MIRT1421186	hsa-miR-330-5p	CLIP-seq
MIRT1421190	hsa-miR-3909	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421202	hsa-miR-4723-3p	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT1421218	hsa-miR-875-3p	CLIP-seq
MIRT2433821	hsa-miR-127-5p	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT2433822	hsa-miR-3180-5p	CLIP-seq
MIRT2433823	hsa-miR-4448	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT2433824	hsa-miR-4642	CLIP-seq
MIRT2433825	hsa-miR-4685-5p	CLIP-seq
MIRT2433826	hsa-miR-940	CLIP-seq
MIRT1554562	hsa-miR-103b	CLIP-seq
MIRT2440958	hsa-miR-1227	CLIP-seq
MIRT1421171	hsa-miR-1273e	CLIP-seq
MIRT1421172	hsa-miR-1287	CLIP-seq
MIRT1554563	hsa-miR-1305	CLIP-seq
MIRT1421174	hsa-miR-132	CLIP-seq
MIRT2440959	hsa-miR-1470	CLIP-seq
MIRT1554565	hsa-miR-181a	CLIP-seq
MIRT1554566	hsa-miR-181b	CLIP-seq
MIRT1554567	hsa-miR-181c	CLIP-seq
MIRT1554568	hsa-miR-181d	CLIP-seq
MIRT1421175	hsa-miR-19a	CLIP-seq
MIRT1421176	hsa-miR-19b	CLIP-seq
MIRT2440960	hsa-miR-2052	CLIP-seq
MIRT1554569	hsa-miR-21	CLIP-seq
MIRT1421177	hsa-miR-212	CLIP-seq
MIRT1554570	hsa-miR-22	CLIP-seq
MIRT1421178	hsa-miR-2467-5p	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT2126379	hsa-miR-2909	CLIP-seq
MIRT2440961	hsa-miR-296-5p	CLIP-seq
MIRT1421180	hsa-miR-3158-3p	CLIP-seq
MIRT1421182	hsa-miR-3188	CLIP-seq
MIRT2440962	hsa-miR-3189-5p	CLIP-seq
MIRT1421183	hsa-miR-3190	CLIP-seq
MIRT1421184	hsa-miR-3200-5p	CLIP-seq
MIRT1421187	hsa-miR-34a	CLIP-seq
MIRT1421188	hsa-miR-34c-5p	CLIP-seq
MIRT2440963	hsa-miR-361-3p	CLIP-seq
MIRT1421189	hsa-miR-3652	CLIP-seq
MIRT2440964	hsa-miR-3690	CLIP-seq
MIRT2348392	hsa-miR-3691-3p	CLIP-seq
MIRT1554571	hsa-miR-374a	CLIP-seq
MIRT1554572	hsa-miR-374b	CLIP-seq
MIRT2348393	hsa-miR-3913-3p	CLIP-seq
MIRT2440965	hsa-miR-3918	CLIP-seq
MIRT2440966	hsa-miR-3935	CLIP-seq
MIRT1421191	hsa-miR-3975	CLIP-seq
MIRT1554573	hsa-miR-4251	CLIP-seq
MIRT1554574	hsa-miR-4262	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT2126380	hsa-miR-4278	CLIP-seq
MIRT2440967	hsa-miR-4284	CLIP-seq
MIRT2440968	hsa-miR-4287	CLIP-seq
MIRT1421193	hsa-miR-4307	CLIP-seq
MIRT1554575	hsa-miR-4329	CLIP-seq
MIRT1421195	hsa-miR-4430	CLIP-seq
MIRT2440969	hsa-miR-4457	CLIP-seq
MIRT2440970	hsa-miR-4469	CLIP-seq
MIRT1421196	hsa-miR-449a	CLIP-seq
MIRT1421197	hsa-miR-449b	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT2440971	hsa-miR-4520a-3p	CLIP-seq
MIRT2440972	hsa-miR-4528	CLIP-seq
MIRT2440973	hsa-miR-4638-3p	CLIP-seq
MIRT2440974	hsa-miR-4667-3p	CLIP-seq
MIRT2440975	hsa-miR-4685-3p	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421201	hsa-miR-4708-3p	CLIP-seq
MIRT2126381	hsa-miR-4716-3p	CLIP-seq
MIRT2126382	hsa-miR-4716-5p	CLIP-seq
MIRT1554578	hsa-miR-4730	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT2440976	hsa-miR-4755-3p	CLIP-seq
MIRT1421205	hsa-miR-485-5p	CLIP-seq
MIRT2348394	hsa-miR-489	CLIP-seq
MIRT1554581	hsa-miR-514	CLIP-seq
MIRT1554582	hsa-miR-514b-3p	CLIP-seq
MIRT1421206	hsa-miR-520d-5p	CLIP-seq
MIRT1421207	hsa-miR-524-5p	CLIP-seq
MIRT1554584	hsa-miR-539	CLIP-seq
MIRT1554585	hsa-miR-543	CLIP-seq
MIRT2348395	hsa-miR-544	CLIP-seq
MIRT1421208	hsa-miR-548a-3p	CLIP-seq
MIRT1421209	hsa-miR-548ae	CLIP-seq
MIRT1421210	hsa-miR-548aj	CLIP-seq
MIRT1421211	hsa-miR-548am	CLIP-seq
MIRT1421212	hsa-miR-548e	CLIP-seq
MIRT1421213	hsa-miR-548f	CLIP-seq
MIRT1421214	hsa-miR-548g	CLIP-seq
MIRT2440977	hsa-miR-548k	CLIP-seq
MIRT2440978	hsa-miR-548n	CLIP-seq
MIRT1421215	hsa-miR-548x	CLIP-seq
MIRT1554586	hsa-miR-558	CLIP-seq
MIRT1554587	hsa-miR-570	CLIP-seq
MIRT2440979	hsa-miR-576-3p	CLIP-seq
MIRT2440980	hsa-miR-584	CLIP-seq
MIRT1554588	hsa-miR-590-5p	CLIP-seq
MIRT1421217	hsa-miR-593	CLIP-seq
MIRT2440981	hsa-miR-617	CLIP-seq
MIRT2440982	hsa-miR-619	CLIP-seq
MIRT2126383	hsa-miR-625	CLIP-seq
MIRT2440983	hsa-miR-642b	CLIP-seq
MIRT2440984	hsa-miR-766	CLIP-seq
MIRT2440985	hsa-miR-890	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT1421187	hsa-miR-34a	CLIP-seq
MIRT1421188	hsa-miR-34c-5p	CLIP-seq
MIRT2348392	hsa-miR-3691-3p	CLIP-seq
MIRT2348393	hsa-miR-3913-3p	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT1421196	hsa-miR-449a	CLIP-seq
MIRT1421197	hsa-miR-449b	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT2348394	hsa-miR-489	CLIP-seq
MIRT2348395	hsa-miR-544	CLIP-seq
MIRT1554562	hsa-miR-103b	CLIP-seq
MIRT2641134	hsa-miR-106a	CLIP-seq
MIRT2641135	hsa-miR-106b	CLIP-seq
MIRT1421168	hsa-miR-1225-3p	CLIP-seq
MIRT2440958	hsa-miR-1227	CLIP-seq
MIRT1421169	hsa-miR-1233	CLIP-seq
MIRT1421171	hsa-miR-1273e	CLIP-seq
MIRT2433821	hsa-miR-127-5p	CLIP-seq
MIRT1421172	hsa-miR-1287	CLIP-seq
MIRT1554563	hsa-miR-1305	CLIP-seq
MIRT1421174	hsa-miR-132	CLIP-seq
MIRT1554564	hsa-miR-142-3p	CLIP-seq
MIRT2440959	hsa-miR-1470	CLIP-seq
MIRT2641136	hsa-miR-17	CLIP-seq
MIRT1554565	hsa-miR-181a	CLIP-seq
MIRT1554566	hsa-miR-181b	CLIP-seq
MIRT1554567	hsa-miR-181c	CLIP-seq
MIRT1554568	hsa-miR-181d	CLIP-seq
MIRT1421175	hsa-miR-19a	CLIP-seq
MIRT1421176	hsa-miR-19b	CLIP-seq
MIRT2641137	hsa-miR-200b	CLIP-seq
MIRT2641138	hsa-miR-200c	CLIP-seq
MIRT2440960	hsa-miR-2052	CLIP-seq
MIRT2641139	hsa-miR-20a	CLIP-seq
MIRT2641140	hsa-miR-20b	CLIP-seq
MIRT1554569	hsa-miR-21	CLIP-seq
MIRT1421177	hsa-miR-212	CLIP-seq
MIRT1554570	hsa-miR-22	CLIP-seq
MIRT1421178	hsa-miR-2467-5p	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT2126379	hsa-miR-2909	CLIP-seq
MIRT2440961	hsa-miR-296-5p	CLIP-seq
MIRT1421180	hsa-miR-3158-3p	CLIP-seq
MIRT2433822	hsa-miR-3180-5p	CLIP-seq
MIRT1421182	hsa-miR-3188	CLIP-seq
MIRT2440962	hsa-miR-3189-5p	CLIP-seq
MIRT1421183	hsa-miR-3190	CLIP-seq
MIRT1421184	hsa-miR-3200-5p	CLIP-seq
MIRT2641141	hsa-miR-323-3p	CLIP-seq
MIRT1421187	hsa-miR-34a	CLIP-seq
MIRT1421188	hsa-miR-34c-5p	CLIP-seq
MIRT2641142	hsa-miR-3609	CLIP-seq
MIRT2440963	hsa-miR-361-3p	CLIP-seq
MIRT1421189	hsa-miR-3652	CLIP-seq
MIRT2641143	hsa-miR-3689a-5p	CLIP-seq
MIRT2641144	hsa-miR-3689b	CLIP-seq
MIRT2641145	hsa-miR-3689e	CLIP-seq
MIRT2641146	hsa-miR-3689f	CLIP-seq
MIRT2440964	hsa-miR-3690	CLIP-seq
MIRT2348392	hsa-miR-3691-3p	CLIP-seq
MIRT1554571	hsa-miR-374a	CLIP-seq
MIRT1554572	hsa-miR-374b	CLIP-seq
MIRT2348393	hsa-miR-3913-3p	CLIP-seq
MIRT2440965	hsa-miR-3918	CLIP-seq
MIRT2440966	hsa-miR-3935	CLIP-seq
MIRT1421191	hsa-miR-3975	CLIP-seq
MIRT2641147	hsa-miR-3977	CLIP-seq
MIRT1554573	hsa-miR-4251	CLIP-seq
MIRT1554574	hsa-miR-4262	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT2126380	hsa-miR-4278	CLIP-seq
MIRT2440967	hsa-miR-4284	CLIP-seq
MIRT2440968	hsa-miR-4287	CLIP-seq
MIRT2641148	hsa-miR-429	CLIP-seq
MIRT1421193	hsa-miR-4307	CLIP-seq
MIRT1421194	hsa-miR-4323	CLIP-seq
MIRT1554575	hsa-miR-4329	CLIP-seq
MIRT1421195	hsa-miR-4430	CLIP-seq
MIRT2433823	hsa-miR-4448	CLIP-seq
MIRT2440969	hsa-miR-4457	CLIP-seq
MIRT2641149	hsa-miR-4466	CLIP-seq
MIRT2440970	hsa-miR-4469	CLIP-seq
MIRT1554576	hsa-miR-4473	CLIP-seq
MIRT1421196	hsa-miR-449a	CLIP-seq
MIRT1421197	hsa-miR-449b	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT2440971	hsa-miR-4520a-3p	CLIP-seq
MIRT2440972	hsa-miR-4528	CLIP-seq
MIRT2440973	hsa-miR-4638-3p	CLIP-seq
MIRT2641150	hsa-miR-4641	CLIP-seq
MIRT2433824	hsa-miR-4642	CLIP-seq
MIRT2440974	hsa-miR-4667-3p	CLIP-seq
MIRT2440975	hsa-miR-4685-3p	CLIP-seq
MIRT2433825	hsa-miR-4685-5p	CLIP-seq
MIRT1554577	hsa-miR-4691-5p	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421201	hsa-miR-4708-3p	CLIP-seq
MIRT2126381	hsa-miR-4716-3p	CLIP-seq
MIRT2126382	hsa-miR-4716-5p	CLIP-seq
MIRT2641151	hsa-miR-4724-5p	CLIP-seq
MIRT1554578	hsa-miR-4730	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT2440976	hsa-miR-4755-3p	CLIP-seq
MIRT1421204	hsa-miR-4758-3p	CLIP-seq
MIRT2641152	hsa-miR-4796-3p	CLIP-seq
MIRT1421205	hsa-miR-485-5p	CLIP-seq
MIRT1554579	hsa-miR-486-5p	CLIP-seq
MIRT2348394	hsa-miR-489	CLIP-seq
MIRT1554580	hsa-miR-512-3p	CLIP-seq
MIRT1554581	hsa-miR-514	CLIP-seq
MIRT1554582	hsa-miR-514b-3p	CLIP-seq
MIRT2641153	hsa-miR-519d	CLIP-seq
MIRT1421206	hsa-miR-520d-5p	CLIP-seq
MIRT1554583	hsa-miR-520f	CLIP-seq
MIRT1421207	hsa-miR-524-5p	CLIP-seq
MIRT1554584	hsa-miR-539	CLIP-seq
MIRT1554585	hsa-miR-543	CLIP-seq
MIRT2348395	hsa-miR-544	CLIP-seq
MIRT1421208	hsa-miR-548a-3p	CLIP-seq
MIRT1421209	hsa-miR-548ae	CLIP-seq
MIRT2641154	hsa-miR-548ah	CLIP-seq
MIRT1421210	hsa-miR-548aj	CLIP-seq
MIRT1421211	hsa-miR-548am	CLIP-seq
MIRT1421212	hsa-miR-548e	CLIP-seq
MIRT1421213	hsa-miR-548f	CLIP-seq
MIRT1421214	hsa-miR-548g	CLIP-seq
MIRT2440977	hsa-miR-548k	CLIP-seq
MIRT2440978	hsa-miR-548n	CLIP-seq
MIRT1421215	hsa-miR-548x	CLIP-seq
MIRT1421216	hsa-miR-556-5p	CLIP-seq
MIRT1554586	hsa-miR-558	CLIP-seq
MIRT1554587	hsa-miR-570	CLIP-seq
MIRT2440979	hsa-miR-576-3p	CLIP-seq
MIRT2440980	hsa-miR-584	CLIP-seq
MIRT1554588	hsa-miR-590-5p	CLIP-seq
MIRT1421217	hsa-miR-593	CLIP-seq
MIRT2641155	hsa-miR-595	CLIP-seq
MIRT2440981	hsa-miR-617	CLIP-seq
MIRT2440982	hsa-miR-619	CLIP-seq
MIRT2126383	hsa-miR-625	CLIP-seq
MIRT2440983	hsa-miR-642b	CLIP-seq
MIRT2641156	hsa-miR-675	CLIP-seq
MIRT2440984	hsa-miR-766	CLIP-seq
MIRT2440985	hsa-miR-890	CLIP-seq
MIRT2641157	hsa-miR-93	CLIP-seq
MIRT1554562	hsa-miR-103b	CLIP-seq
MIRT2641134	hsa-miR-106a	CLIP-seq
MIRT2641135	hsa-miR-106b	CLIP-seq
MIRT2433821	hsa-miR-127-5p	CLIP-seq
MIRT1554563	hsa-miR-1305	CLIP-seq
MIRT1421174	hsa-miR-132	CLIP-seq
MIRT1554564	hsa-miR-142-3p	CLIP-seq
MIRT2440959	hsa-miR-1470	CLIP-seq
MIRT2641136	hsa-miR-17	CLIP-seq
MIRT1554565	hsa-miR-181a	CLIP-seq
MIRT1554566	hsa-miR-181b	CLIP-seq
MIRT1554567	hsa-miR-181c	CLIP-seq
MIRT1554568	hsa-miR-181d	CLIP-seq
MIRT1421175	hsa-miR-19a	CLIP-seq
MIRT1421176	hsa-miR-19b	CLIP-seq
MIRT2440960	hsa-miR-2052	CLIP-seq
MIRT2641139	hsa-miR-20a	CLIP-seq
MIRT2641140	hsa-miR-20b	CLIP-seq
MIRT1554569	hsa-miR-21	CLIP-seq
MIRT1421177	hsa-miR-212	CLIP-seq
MIRT1554570	hsa-miR-22	CLIP-seq
MIRT1421179	hsa-miR-2682	CLIP-seq
MIRT2126379	hsa-miR-2909	CLIP-seq
MIRT2440961	hsa-miR-296-5p	CLIP-seq
MIRT1421180	hsa-miR-3158-3p	CLIP-seq
MIRT2433822	hsa-miR-3180-5p	CLIP-seq
MIRT2440962	hsa-miR-3189-5p	CLIP-seq
MIRT1421183	hsa-miR-3190	CLIP-seq
MIRT1421184	hsa-miR-3200-5p	CLIP-seq
MIRT2641141	hsa-miR-323-3p	CLIP-seq
MIRT1421187	hsa-miR-34a	CLIP-seq
MIRT1421188	hsa-miR-34c-5p	CLIP-seq
MIRT2641142	hsa-miR-3609	CLIP-seq
MIRT2440963	hsa-miR-361-3p	CLIP-seq
MIRT2641143	hsa-miR-3689a-5p	CLIP-seq
MIRT2641144	hsa-miR-3689b	CLIP-seq
MIRT2641145	hsa-miR-3689e	CLIP-seq
MIRT2641146	hsa-miR-3689f	CLIP-seq
MIRT2440964	hsa-miR-3690	CLIP-seq
MIRT2348392	hsa-miR-3691-3p	CLIP-seq
MIRT1554571	hsa-miR-374a	CLIP-seq
MIRT1554572	hsa-miR-374b	CLIP-seq
MIRT2348393	hsa-miR-3913-3p	CLIP-seq
MIRT2440965	hsa-miR-3918	CLIP-seq
MIRT2440966	hsa-miR-3935	CLIP-seq
MIRT2641147	hsa-miR-3977	CLIP-seq
MIRT1554573	hsa-miR-4251	CLIP-seq
MIRT1554574	hsa-miR-4262	CLIP-seq
MIRT1421192	hsa-miR-4269	CLIP-seq
MIRT2126380	hsa-miR-4278	CLIP-seq
MIRT2440967	hsa-miR-4284	CLIP-seq
MIRT2440968	hsa-miR-4287	CLIP-seq
MIRT1554575	hsa-miR-4329	CLIP-seq
MIRT2433823	hsa-miR-4448	CLIP-seq
MIRT2440969	hsa-miR-4457	CLIP-seq
MIRT2641149	hsa-miR-4466	CLIP-seq
MIRT2440970	hsa-miR-4469	CLIP-seq
MIRT1554576	hsa-miR-4473	CLIP-seq
MIRT1421196	hsa-miR-449a	CLIP-seq
MIRT1421197	hsa-miR-449b	CLIP-seq
MIRT1421198	hsa-miR-449c	CLIP-seq
MIRT1421199	hsa-miR-4514	CLIP-seq
MIRT2440971	hsa-miR-4520a-3p	CLIP-seq
MIRT2440972	hsa-miR-4528	CLIP-seq
MIRT2440973	hsa-miR-4638-3p	CLIP-seq
MIRT2641150	hsa-miR-4641	CLIP-seq
MIRT2433824	hsa-miR-4642	CLIP-seq
MIRT2440974	hsa-miR-4667-3p	CLIP-seq
MIRT2440975	hsa-miR-4685-3p	CLIP-seq
MIRT2433825	hsa-miR-4685-5p	CLIP-seq
MIRT1554577	hsa-miR-4691-5p	CLIP-seq
MIRT1421200	hsa-miR-4692	CLIP-seq
MIRT1421201	hsa-miR-4708-3p	CLIP-seq
MIRT2126381	hsa-miR-4716-3p	CLIP-seq
MIRT2126382	hsa-miR-4716-5p	CLIP-seq
MIRT1554578	hsa-miR-4730	CLIP-seq
MIRT1421203	hsa-miR-4742-5p	CLIP-seq
MIRT2641152	hsa-miR-4796-3p	CLIP-seq
MIRT1554579	hsa-miR-486-5p	CLIP-seq
MIRT2348394	hsa-miR-489	CLIP-seq
MIRT1554580	hsa-miR-512-3p	CLIP-seq
MIRT2641153	hsa-miR-519d	CLIP-seq
MIRT1554583	hsa-miR-520f	CLIP-seq
MIRT1554584	hsa-miR-539	CLIP-seq
MIRT1554585	hsa-miR-543	CLIP-seq
MIRT2348395	hsa-miR-544	CLIP-seq
MIRT2641154	hsa-miR-548ah	CLIP-seq
MIRT2440977	hsa-miR-548k	CLIP-seq
MIRT2440978	hsa-miR-548n	CLIP-seq
MIRT1554586	hsa-miR-558	CLIP-seq
MIRT1554587	hsa-miR-570	CLIP-seq
MIRT2440979	hsa-miR-576-3p	CLIP-seq
MIRT2440980	hsa-miR-584	CLIP-seq
MIRT1554588	hsa-miR-590-5p	CLIP-seq
MIRT1421217	hsa-miR-593	CLIP-seq
MIRT2641155	hsa-miR-595	CLIP-seq
MIRT2440982	hsa-miR-619	CLIP-seq
MIRT2126383	hsa-miR-625	CLIP-seq
MIRT2440983	hsa-miR-642b	CLIP-seq
MIRT2641156	hsa-miR-675	CLIP-seq
MIRT2440984	hsa-miR-766	CLIP-seq
MIRT2440985	hsa-miR-890	CLIP-seq
MIRT2641157	hsa-miR-93	CLIP-seq
MIRT2433826	hsa-miR-940	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
RB1	Unknown	7680889

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEP	11866539
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005178	Function	Integrin binding	TAS	1388724
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	18083624, 19478074, 25416956, 25853243, 32296183
GO:0005518	Function	Collagen binding	IPI	19478074
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19478074
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	1388724
GO:0005802	Component	Trans-Golgi network	IDA	19478074
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	TAS	8024701
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9463327
GO:0008283	Process	Cell population proliferation	TAS	1388724
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23979707, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0042802	Function	Identical protein binding	IPI	31197037
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 21362503
GO:0071944	Component	Cell periphery	IEA

MIM	HGNC	e!Ensembl
601692	11771	ENSG00000120708

Q15582

Protein name

Transforming growth factor-beta-induced protein ig-h3 (Beta ig-h3) (Kerato-epithelin) (RGD-containing collagen-associated protein) (RGD-CAP)

Protein function

Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).

PDB

1X3B , 2LTB , 2LTC , 2VXP , 5NV6 , 7AS7 , 7ASC , 7ASG , 8HGA , 8HIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02469	Fasciclin	114 → 238	Fasciclin domain	Domain
PF02469	Fasciclin	251 → 373	Fasciclin domain	Domain
PF02469	Fasciclin	386 → 500	Fasciclin domain	Domain
PF02469	Fasciclin	513 → 634	Fasciclin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289). {ECO:0000269|PubMed:27609313, ECO:0000269|PubMed:8077289}.

Sequence

MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK
YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL
YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV
LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT
NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT
NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF
KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA
AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF
APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF
SRASQRSVRLAPVYQKLLERMKH

Sequence length

683

Interactions

View interactions

	Reactome
			Amyloid fiber formation

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Avellino corneal dystrophy	Pathogenic	rs121909211	RCV000008318 RCV000995667	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy	Pathogenic; Likely pathogenic	rs121909208, rs121909212	RCV006276050 RCV000779458	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy, lattice type 3A	Likely pathogenic; Pathogenic	rs121909212, rs121909214	RCV000008320 RCV000008324	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial basement membrane dystrophy	Pathogenic	rs121909216	RCV000008326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial-stromal TGFBI dystrophy	Likely pathogenic; Pathogenic	rs2126915354, rs2126917690, rs121909210	RCV002466692 RCV002466693 RCV002466395 RCV002466396	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Granular corneal dystrophy	Likely pathogenic	rs376761086	RCV001530524	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Groenouw corneal dystrophy type I	Likely pathogenic; Pathogenic	rs2126917684, rs121909208, rs121909210	RCV001807998 RCV000008315 RCV000008322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Pathogenic	rs121909208, rs121909210	RCV002288474 RCV000008317	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reis-Bucklers' corneal dystrophy	Pathogenic; Likely pathogenic	rs2126915359, rs121909211, rs121909215, rs2479615961	RCV000008319 RCV000008321 RCV000008325 RCV003314513	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Pathogenic; Likely pathogenic	rs121909209, rs1751703312	RCV000008316 RCV001267812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AVELLINO TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, AVELLINO TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Dominant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, GROENOUW TYPE I	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, LATTICE TYPE I	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, LATTICE TYPE IIIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROENOUW TYPE I CORNEAL DYSTROPHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY CORNEAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TGFBI-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1895755, 2338340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	1388724, 17659994, 24481402, 31109257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	12680208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12379307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	18359287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	15111592, 15177960, 17893671, 17982422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	19019446, 21743312, 26207300, 31197037, 9860011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	23592924, 31197037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30834519, 31626700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	31400610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16947382	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36398072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12499048, 12510773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16672769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30757948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36398072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15743491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	10832717, 11095060, 12812879, 14767644, 15059726, 17096061, 17317389, 17846354, 18290950, 18332318, 18465714, 18615204, 19145249, 19478074, 19497990 View all (23 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avellino corneal dystrophy	Avellino Corneal Dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avellino corneal dystrophy	Avellino Corneal Dystrophy	ORPHANET_DG	22815629		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avellino corneal dystrophy	Avellino Corneal Dystrophy	UNIPROT_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avellino corneal dystrophy	Avellino Corneal Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avellino corneal dystrophy	Avellino Corneal Dystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar disorder	Pubtator	37894929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31440088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	32132634, 34097874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18359287	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18425347, 21561707, 22695319, 28683467, 29467493, 29599830, 30823890, 31277676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31277676, 33087801, 38245723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	22355247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	28231844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21701776	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22159598, 23559853, 28261610, 28940965, 30726660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16329146, 28940965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18068629	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16627984	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18997105, 29515105, 35265561, 37889536, 39276983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31440088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16329146, 18834524, 25864756, 26503734, 31571056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18359287	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28534376, 28952225, 32406866, 36035369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24481402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20421128, 22248469, 22640878, 24368280, 27712592, 28081744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	22710407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	25918253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10845607, 11955914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	14551530, 32180680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	26089329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34548635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	19092416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24599568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	18357369, 18682315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25542019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23832580, 30672027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23203071, 25755764, 35083181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	30615219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18357369, 18359287, 22341602, 25035170, 28534376, 28952225, 29190493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	12917404, 18385782, 20697279, 22155582, 28060069, 28988748, 39618086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	17653042, 28120575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	LHGDN	17653042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	10611102, 12379307, 12812879, 14502125, 15017378, 16636649, 16710170, 17215264, 18332318, 18427622, 18615206, 19145249, 19421032, 19461933, 20680100 View all (42 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	10422854, 10611102, 10753964, 10798644, 10832717, 10889112, 11024425, 11095060, 11189007, 11262611, 11297504, 11685063, 11857735, 11867580, 11923233 View all (102 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy	Corneal Dystrophy	CLINVAR_DG	11004271, 12400061, 16809844, 21462384, 23884333, 26748743, 9497262		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	12812879, 17215264, 18332318, 19145249, 19461933, 19497990, 20697279, 21310903, 21311742, 21462384, 21628991, 21887843, 22155582, 22194646, 22355247 View all (15 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy Congenital Stromal	Corneal dystrophy	Pubtator	16636649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy epithelial basement membrane	Corneal dystrophy	Pubtator	19710953, 20680100, 21617751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Lattice Type IIIA	Corneal dystrophy	Pubtator	21462384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy of Bowman layer type 1	Corneal dystrophy	Pubtator	12942051, 17215264, 18636123, 18728790, 20360992, 22906289, 27590038, 9463327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	ORPHANET_DG	16652336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	UNIPROT_DG	16652336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	BEFREE	27737463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy, epithelial basement membrane	Corneal Dystrophy, Epithelial Basement Membrane	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Lattice type 3	Corneal Dystrophy	BEFREE	11004271, 15111592, 15177960, 17893671, 17982422, 9747041, 9860011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Lattice Type IIIA	Corneal Dystrophy	BEFREE	10218700, 10682981, 21462384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Lattice Type IIIA	Corneal Dystrophy	UNIPROT_DG	15790870, 9497262		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Lattice Type IIIA	Corneal Dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Lattice Type IIIA	Corneal Dystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Lattice Type IIIA	Corneal Dystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal erosion	Corneal erosion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal guttata	Corneal guttata	BEFREE	10611102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	18385782, 22355247, 33407479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	12940514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17215264, 25932442, 39618086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16947382, 31648137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	30552074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24728038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24728038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24728038, 26470788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15712349, 24728038, 29258994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	12577311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22266139, 32778679, 37960829, 38211557	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12911551, 15223229		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	18682491		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22266139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	27564721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24796928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26675296, 34686725, 37187159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial basement membrane dystrophy	Epithelial Basement Membrane Dystrophy	BEFREE	15183802, 27737463		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial basement membrane dystrophy	Epithelial Basement Membrane Dystrophy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial basement membrane dystrophy	Epithelial Basement Membrane Dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20421128, 24368280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial Recurrent Erosion Dystrophy	Epithelial Erosion Dystrophy	BEFREE	25564336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15930298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15930298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20686364	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	BEFREE	10328397, 10425035, 10798644, 10832717, 10844062, 11004271, 11095060, 11413411, 12770961, 14597039, 15013897, 15111592, 15183802, 15531312, 15604878 View all (28 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	15003166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18558083, 30250825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	22234156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24833739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	19011008, 22234156, 31045881, 8921218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	19011008, 22234156, 29294389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	18427622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20419098, 28957313, 29294230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20419098, 28365151, 30196284, 33553434, 36397358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20419098, 28957313, 29294230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12510773, 29294230, 31440088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30196284, 39468708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33462083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	11371495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granular corneal dystrophy type I	Granular corneal dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Granular corneal dystrophy type II	Granular corneal dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Granular Dystrophy, Corneal	Corneal Granular Dystrophy	BEFREE	10425035, 10660331, 10832717, 10865320, 11095060, 11189007, 12709742, 12782158, 14576527, 15377440, 15623763, 17096061, 18465714, 19933198, 21311742 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granular Dystrophy, Corneal	Corneal Granular Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	BEFREE	26425083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	BEFREE	10660331, 18752451, 21264234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	UNIPROT_DG	15623763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	ORPHANET_DG	21264234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw corneal dystrophy type I (disorder)	Groenouw Corneal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Groenouw type I corneal dystrophy	Groenouw corneal dystrophy	Pubtator	20680100, 21264234, 21311742, 21462384, 22355247, 24129074, 27829782, 28060069, 32366062, 33513810, 9463327	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	26961680, 30387319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28750100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	38596938	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	17395138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	35265561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	16627984	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary corneal dystrophy	Hereditary Corneal Dystrophy	BEFREE	15564760, 9930162		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	37326594	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	10723084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	21462384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	30778722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35634956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37960829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	17038484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	17006947, 25805932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	10487436, 12411122, 14701952, 22575726, 24940934, 26818911, 28567551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	19421032, 26818911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11740395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	30088155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29272308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	BEFREE	10328397, 10425035, 10482106, 10660331, 10798644, 10832717, 10837380, 10844062, 11095060, 11413411, 12586172, 12770961, 14597039, 15111592, 15623763 View all (30 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	UNIPROT_DG	10837380, 11413411, 14597039, 15531312, 15623763, 15838722, 16541014, 17013691, 9799082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	ORPHANET_DG	12770961		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy type I	Lattice corneal dystrophy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	24791868, 8024701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33128580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11906173, 17327467, 21395558, 24662304, 28161507, 28718370, 29958417, 31465839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24599568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17327467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16329146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16651406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18834524, 22159598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20509890, 24481402	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37841281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	35967373	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	38130724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25755764	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular corneal dystrophy	Macular Corneal Dystrophy	BEFREE	27829782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	21887843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29294230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18425347, 21561707, 22695319, 28683467, 29467493, 29599830, 30823890, 31277676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15930298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16329146, 18834524, 25864756, 26503734, 31571056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20421128, 22248469, 22640878, 27712592, 28081744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12379307, 17114344, 22458379, 30156359, 30415234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18834524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22710407, 25864756, 30260476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31440088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16329146, 16651406, 18359287, 18834524, 22626996, 22695319, 24988946, 25035170, 27622658, 28099942, 28261610, 28315334, 30260476, 31626700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25542019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30704353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18425347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	30004239		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16809487, 18368129, 21788131, 22326753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melorheostosis	Melorheostosis	BEFREE	10723084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21701776, 22695319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	21701776	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	17395138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	17395138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	19092416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	18425347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23699600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	23559853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	8024701		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8024701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	19092416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	36398072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19387070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22068284, 29795279, 31440088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11740395, 12085188, 12971413, 16489022, 16651406, 18357369, 18359287, 18834524, 19136465, 20421128, 21701776, 21901626, 22326753, 22341602, 22629380 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18097563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21314941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	29984162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	18682491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24481402, 25175415, 28231844, 30542417, 30783512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	18425347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	39959167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36799242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	14633705, 19505574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24595049, 35008910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18068629		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20421128, 22248469, 22640878, 27712592, 28081744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18068629, 22248469, 22640878, 28611294, 31865146, 32312959, 34609082, 35741755, 37806183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12379307, 17114344, 22458379, 30156359, 30415234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31626700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	12379307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12379307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12379307, 21071578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23679566	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	16636649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18834524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18834524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18834524, 24988946, 29858602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	35967373, 38130724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18203815, 29351444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	BEFREE	9930165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Reis-Bucklers` corneal dystrophy	Reis-Bucklers Corneal Dystrophy	UNIPROT_DG	10660331, 15623763, 9780098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reis-Bucklers` corneal dystrophy	Reis-Bucklers Corneal Dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reis-Bucklers` corneal dystrophy	Reis-Bucklers Corneal Dystrophy	ORPHANET_DG	20360992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reis-Bucklers` corneal dystrophy	Reis-Bucklers Corneal Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Reis-Bucklers` corneal dystrophy	Reis-Bucklers Corneal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
	Reis-Bucklers Corneal Dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18357369, 22341602, 28534376, 28952225, 29190493, 29294230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31127625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	33946315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28099942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16947382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16947382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35047627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	18298822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schnyder crystalline corneal dystrophy	Schnyder crystalline corneal dystrophy	BEFREE	26961680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	18203815, 9002017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27887929, 29042256, 31760555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	CTD_human_DG	27887929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34349764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24481402, 31598162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11705871, 25448803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31562292, 32871844, 36157879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24481402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22710407, 25864756, 30260476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12353499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stromal Dystrophies, Corneal	Stromal corneal dystrophy	BEFREE	11024425, 11262611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	16947382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	18203815, 21515915, 28433542, 30175895, 9002017		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	22626996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	BEFREE	10612512, 17198850, 17980739, 19433713, 26464103		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	GENOMICS_ENGLAND_DG	17668063, 9727509		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	ORPHANET_DG	26464103		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thiel-Behnke corneal dystrophy	Thiel-Behnke Corneal Dystrophy	UNIPROT_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34326372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	22626996, 28940965, 31514337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28261610, 30884187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	23861389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21135107, 9463327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual auras	Visual auras	BEFREE	30291554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	22341602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35731049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TGFBI (transforming growth factor beta induced)