ITGA3 (integrin subunit alpha 3)

Gene

• Entrez ID: 3675
• Gene name: Integrin subunit alpha 3
• Gene symbol: ITGA3
• Synonyms (NCBI Gene): CD49C, FRP-2, GAP-B3, GAPB3, ILNEB, JEB7, MSK18, VCA-2, VL3A, VLA3a
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140781106	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200810866	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs540704248	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs797044989	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045048	G>A	Pathogenic	Splice donor variant
rs1567701091	G>A	Pathogenic	Splice acceptor variant
rs1598186840	AGGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022979	hsa-miR-124-3p	Microarray	18668037
MIRT023953	hsa-miR-1-3p	Proteomics	18668040
MIRT029991	hsa-miR-26b-5p	Microarray	19088304
MIRT022979	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT702665	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT702664	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT702663	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT702662	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT702661	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT702660	hsa-miR-300	HITS-CLIP	23313552
MIRT702659	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT702658	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT702656	hsa-miR-4457	HITS-CLIP	23313552
MIRT702657	hsa-miR-605-3p	HITS-CLIP	23313552
MIRT702655	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT702654	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT702653	hsa-miR-6825-5p	HITS-CLIP	23313552
MIRT702651	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT702652	hsa-miR-5698	HITS-CLIP	23313552
MIRT702650	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT702649	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT702648	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT702647	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT702646	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT702645	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT702644	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT702643	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT552303	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT552302	hsa-miR-4779	HITS-CLIP	23313552
MIRT682112	hsa-miR-3929	HITS-CLIP	23313552
MIRT682111	hsa-miR-4419b	HITS-CLIP	23313552
MIRT682110	hsa-miR-4478	HITS-CLIP	23313552
MIRT682109	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT682108	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT682107	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT682106	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT682105	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT682104	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT682103	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT682102	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT682101	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT682100	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT682099	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT682098	hsa-miR-4458	HITS-CLIP	23313552
MIRT682097	hsa-miR-4500	HITS-CLIP	23313552
MIRT682096	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT682095	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT682094	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT552296	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT682093	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT682092	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT682091	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT682090	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT682089	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT682088	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT552294	hsa-miR-4266	HITS-CLIP	23313552
MIRT552295	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT552293	hsa-miR-1273e	HITS-CLIP	23313552
MIRT682087	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT682086	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT682085	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT682084	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT682083	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT682082	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT682081	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT682080	hsa-miR-3689c	HITS-CLIP	23313552
MIRT682079	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT682078	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT682077	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT682076	hsa-miR-3122	HITS-CLIP	23313552
MIRT682075	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT682074	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT682073	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT552300	hsa-miR-665	HITS-CLIP	23313552
MIRT552303	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT552302	hsa-miR-4779	HITS-CLIP	23706177
MIRT682112	hsa-miR-3929	HITS-CLIP	23706177
MIRT682111	hsa-miR-4419b	HITS-CLIP	23706177
MIRT682110	hsa-miR-4478	HITS-CLIP	23706177
MIRT682109	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT552298	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT552297	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT682108	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682107	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682106	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT682105	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT682104	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT682103	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT682102	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT682101	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT682100	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT682099	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT682098	hsa-miR-4458	HITS-CLIP	23706177
MIRT682097	hsa-miR-4500	HITS-CLIP	23706177
MIRT682096	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT682095	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT682094	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT552296	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT682093	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT682092	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT682091	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT682090	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT682089	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT682088	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT552294	hsa-miR-4266	HITS-CLIP	23706177
MIRT552295	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT552293	hsa-miR-1273e	HITS-CLIP	23706177
MIRT682087	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT682086	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT682085	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT682084	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT682083	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT682082	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT682081	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT682080	hsa-miR-3689c	HITS-CLIP	23706177
MIRT682079	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT682078	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT682077	hsa-miR-450a-1-3p	HITS-CLIP	23706177
MIRT682076	hsa-miR-3122	HITS-CLIP	23706177
MIRT682075	hsa-miR-3913-5p	HITS-CLIP	23706177
MIRT682074	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT682073	hsa-miR-6513-5p	HITS-CLIP	23706177
MIRT552300	hsa-miR-665	HITS-CLIP	23706177
MIRT621503	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT621502	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT552303	hsa-miR-4695-5p	PAR-CLIP	21572407
MIRT552302	hsa-miR-4779	PAR-CLIP	21572407
MIRT552301	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT552300	hsa-miR-665	PAR-CLIP	21572407
MIRT552299	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT552298	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT552297	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT552296	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT552294	hsa-miR-4266	PAR-CLIP	21572407
MIRT552295	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT552293	hsa-miR-1273e	PAR-CLIP	21572407
MIRT755726	hsa-miR-144-5p	PAR-CLIP	27292025
MIRT755726	hsa-miR-144-5p	PAR-CLIP	27292025
MIRT755726	hsa-miR-144-5p	PAR-CLIP	27292025
MIRT755726	hsa-miR-144-5p	PAR-CLIP	27292025
MIRT022979	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT702665	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT702664	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT702663	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT702662	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT702661	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT702660	hsa-miR-300	HITS-CLIP	23313552
MIRT702659	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT702658	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT702656	hsa-miR-4457	HITS-CLIP	23313552
MIRT702657	hsa-miR-605-3p	HITS-CLIP	23313552
MIRT702655	hsa-miR-1249-5p	HITS-CLIP	23313552
MIRT702654	hsa-miR-6797-5p	HITS-CLIP	23313552
MIRT702653	hsa-miR-6825-5p	HITS-CLIP	23313552
MIRT702651	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT702652	hsa-miR-5698	HITS-CLIP	23313552
MIRT702650	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT702649	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT702648	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT702647	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT702646	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT702645	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT702644	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT702643	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT552303	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT552302	hsa-miR-4779	HITS-CLIP	23313552
MIRT682112	hsa-miR-3929	HITS-CLIP	23313552
MIRT682111	hsa-miR-4419b	HITS-CLIP	23313552
MIRT682110	hsa-miR-4478	HITS-CLIP	23313552
MIRT682109	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT682108	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT682107	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT682106	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT682105	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT682104	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT682103	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT682102	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT682101	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT682100	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT682099	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT682098	hsa-miR-4458	HITS-CLIP	23313552
MIRT682097	hsa-miR-4500	HITS-CLIP	23313552
MIRT682096	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT682095	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT682094	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT552296	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT682093	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT682092	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT682091	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT682090	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT682089	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT682088	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT552294	hsa-miR-4266	HITS-CLIP	23313552
MIRT552295	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT552293	hsa-miR-1273e	HITS-CLIP	23313552
MIRT682087	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT682086	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT682085	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT682084	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT682083	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT682082	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT682081	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT682080	hsa-miR-3689c	HITS-CLIP	23313552
MIRT682079	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT682078	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT682077	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT682076	hsa-miR-3122	HITS-CLIP	23313552
MIRT682075	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT682074	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT682073	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT552300	hsa-miR-665	HITS-CLIP	23313552
MIRT552303	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT552302	hsa-miR-4779	HITS-CLIP	23706177
MIRT682112	hsa-miR-3929	HITS-CLIP	23706177
MIRT682111	hsa-miR-4419b	HITS-CLIP	23706177
MIRT682110	hsa-miR-4478	HITS-CLIP	23706177
MIRT682109	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT552298	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT552297	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT682108	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682107	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682106	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT682105	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT682104	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT682103	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT682102	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT682101	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT682100	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT682099	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT682098	hsa-miR-4458	HITS-CLIP	23706177
MIRT682097	hsa-miR-4500	HITS-CLIP	23706177
MIRT682096	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT682095	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT682094	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT552296	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT682093	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT682092	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT682091	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT682090	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT682089	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT682088	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT552294	hsa-miR-4266	HITS-CLIP	23706177
MIRT552295	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT552293	hsa-miR-1273e	HITS-CLIP	23706177
MIRT682087	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT682086	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT682085	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT682084	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT682083	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT682082	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT682081	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT682080	hsa-miR-3689c	HITS-CLIP	23706177
MIRT682079	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT682078	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT682077	hsa-miR-450a-1-3p	HITS-CLIP	23706177
MIRT682076	hsa-miR-3122	HITS-CLIP	23706177
MIRT682075	hsa-miR-3913-5p	HITS-CLIP	23706177
MIRT682074	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT682073	hsa-miR-6513-5p	HITS-CLIP	23706177
MIRT552300	hsa-miR-665	HITS-CLIP	23706177
MIRT621503	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT621502	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT552303	hsa-miR-4695-5p	PAR-CLIP	21572407
MIRT552302	hsa-miR-4779	PAR-CLIP	21572407
MIRT552301	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT552300	hsa-miR-665	PAR-CLIP	21572407
MIRT552299	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT552298	hsa-miR-1225-3p	PAR-CLIP	21572407
MIRT552297	hsa-miR-1233-3p	PAR-CLIP	21572407
MIRT552296	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT552294	hsa-miR-4266	PAR-CLIP	21572407
MIRT552295	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT552293	hsa-miR-1273e	PAR-CLIP	21572407
MIRT755726	hsa-miR-144-5p	Luciferase reporter assay	34938358
MIRT756451	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36995683
MIRT1073514	hsa-miR-1909	CLIP-seq
MIRT1073515	hsa-miR-193a-5p	CLIP-seq
MIRT1073516	hsa-miR-197	CLIP-seq
MIRT1073517	hsa-miR-3121-3p	CLIP-seq
MIRT1073518	hsa-miR-3147	CLIP-seq
MIRT1073519	hsa-miR-3663-3p	CLIP-seq
MIRT1073520	hsa-miR-3689d	CLIP-seq
MIRT1073521	hsa-miR-4303	CLIP-seq
MIRT1073522	hsa-miR-4425	CLIP-seq
MIRT1073523	hsa-miR-4476	CLIP-seq
MIRT1073524	hsa-miR-597	CLIP-seq
MIRT1073525	hsa-miR-1193	CLIP-seq
MIRT1073526	hsa-miR-1207-5p	CLIP-seq
MIRT1073527	hsa-miR-1253	CLIP-seq
MIRT1073528	hsa-miR-1286	CLIP-seq
MIRT1073529	hsa-miR-1297	CLIP-seq
MIRT1073530	hsa-miR-181a	CLIP-seq
MIRT1073531	hsa-miR-181b	CLIP-seq
MIRT1073532	hsa-miR-181c	CLIP-seq
MIRT1073533	hsa-miR-181d	CLIP-seq
MIRT1073534	hsa-miR-185	CLIP-seq
MIRT1073515	hsa-miR-193a-5p	CLIP-seq
MIRT1073535	hsa-miR-26a	CLIP-seq
MIRT1073536	hsa-miR-26b	CLIP-seq
MIRT1073537	hsa-miR-27a	CLIP-seq
MIRT1073538	hsa-miR-27b	CLIP-seq
MIRT1073539	hsa-miR-296-5p	CLIP-seq
MIRT1073518	hsa-miR-3147	CLIP-seq
MIRT1073540	hsa-miR-3150a-3p	CLIP-seq
MIRT1073541	hsa-miR-3151	CLIP-seq
MIRT1073542	hsa-miR-3175	CLIP-seq
MIRT1073543	hsa-miR-3179	CLIP-seq
MIRT1073544	hsa-miR-3188	CLIP-seq
MIRT1073545	hsa-miR-3202	CLIP-seq
MIRT1073546	hsa-miR-342-5p	CLIP-seq
MIRT1073519	hsa-miR-3663-3p	CLIP-seq
MIRT1073547	hsa-miR-3691-3p	CLIP-seq
MIRT1073548	hsa-miR-3713	CLIP-seq
MIRT1073549	hsa-miR-371b-3p	CLIP-seq
MIRT1073550	hsa-miR-3918	CLIP-seq
MIRT1073551	hsa-miR-3926	CLIP-seq
MIRT1073552	hsa-miR-4262	CLIP-seq
MIRT1073553	hsa-miR-4279	CLIP-seq
MIRT1073554	hsa-miR-4283	CLIP-seq
MIRT1073521	hsa-miR-4303	CLIP-seq
MIRT1073555	hsa-miR-4306	CLIP-seq
MIRT1073556	hsa-miR-4313	CLIP-seq
MIRT1073557	hsa-miR-4314	CLIP-seq
MIRT1073522	hsa-miR-4425	CLIP-seq
MIRT1073558	hsa-miR-4428	CLIP-seq
MIRT1073559	hsa-miR-4465	CLIP-seq
MIRT1073560	hsa-miR-4489	CLIP-seq
MIRT1073561	hsa-miR-4492	CLIP-seq
MIRT1073562	hsa-miR-4498	CLIP-seq
MIRT1073563	hsa-miR-4533	CLIP-seq
MIRT1073564	hsa-miR-4642	CLIP-seq
MIRT1073565	hsa-miR-4644	CLIP-seq
MIRT1073566	hsa-miR-4651	CLIP-seq
MIRT1073567	hsa-miR-4664-5p	CLIP-seq
MIRT1073568	hsa-miR-4667-5p	CLIP-seq
MIRT1073569	hsa-miR-4691-5p	CLIP-seq
MIRT1073570	hsa-miR-4700-5p	CLIP-seq
MIRT1073571	hsa-miR-4708-5p	CLIP-seq
MIRT1073572	hsa-miR-4722-5p	CLIP-seq
MIRT1073573	hsa-miR-4731-5p	CLIP-seq
MIRT1073574	hsa-miR-4742-3p	CLIP-seq
MIRT1073575	hsa-miR-4756-3p	CLIP-seq
MIRT1073576	hsa-miR-4763-3p	CLIP-seq
MIRT1073577	hsa-miR-4795-5p	CLIP-seq
MIRT1073578	hsa-miR-486-3p	CLIP-seq
MIRT1073579	hsa-miR-513a-5p	CLIP-seq
MIRT1073580	hsa-miR-548s	CLIP-seq
MIRT1073581	hsa-miR-608	CLIP-seq
MIRT1073582	hsa-miR-663b	CLIP-seq
MIRT1073583	hsa-miR-762	CLIP-seq
MIRT1073584	hsa-miR-939	CLIP-seq
MIRT2018158	hsa-miR-1238	CLIP-seq
MIRT2018159	hsa-miR-128	CLIP-seq
MIRT2018160	hsa-miR-134	CLIP-seq
MIRT2018161	hsa-miR-1825	CLIP-seq
MIRT1073514	hsa-miR-1909	CLIP-seq
MIRT2018162	hsa-miR-24	CLIP-seq
MIRT2018163	hsa-miR-3118	CLIP-seq
MIRT1073517	hsa-miR-3121-3p	CLIP-seq
MIRT2018164	hsa-miR-3134	CLIP-seq
MIRT2018165	hsa-miR-3183	CLIP-seq
MIRT2018166	hsa-miR-326	CLIP-seq
MIRT2018167	hsa-miR-330-5p	CLIP-seq
MIRT2018168	hsa-miR-4257	CLIP-seq
MIRT2018169	hsa-miR-4284	CLIP-seq
MIRT2018170	hsa-miR-4302	CLIP-seq
MIRT2018171	hsa-miR-4318	CLIP-seq
MIRT2018172	hsa-miR-4426	CLIP-seq
MIRT2018173	hsa-miR-4474-3p	CLIP-seq
MIRT1073523	hsa-miR-4476	CLIP-seq
MIRT2018174	hsa-miR-4647	CLIP-seq
MIRT2018175	hsa-miR-4661-3p	CLIP-seq
MIRT2018176	hsa-miR-4662b	CLIP-seq
MIRT1073569	hsa-miR-4691-5p	CLIP-seq
MIRT2018177	hsa-miR-4723-3p	CLIP-seq
MIRT1073578	hsa-miR-486-3p	CLIP-seq
MIRT2018178	hsa-miR-545	CLIP-seq
MIRT2018179	hsa-miR-943	CLIP-seq
MIRT2250020	hsa-miR-101	CLIP-seq
MIRT2250021	hsa-miR-105	CLIP-seq
MIRT1073525	hsa-miR-1193	CLIP-seq
MIRT1073526	hsa-miR-1207-5p	CLIP-seq
MIRT2250022	hsa-miR-1287	CLIP-seq
MIRT2250023	hsa-miR-1299	CLIP-seq
MIRT2250024	hsa-miR-1324	CLIP-seq
MIRT2018160	hsa-miR-134	CLIP-seq
MIRT2250025	hsa-miR-139-5p	CLIP-seq
MIRT2250026	hsa-miR-144	CLIP-seq
MIRT2250027	hsa-miR-149	CLIP-seq
MIRT2018161	hsa-miR-1825	CLIP-seq
MIRT1073514	hsa-miR-1909	CLIP-seq
MIRT2250028	hsa-miR-1915	CLIP-seq
MIRT2250029	hsa-miR-221	CLIP-seq
MIRT2250030	hsa-miR-222	CLIP-seq
MIRT2250031	hsa-miR-2355-5p	CLIP-seq
MIRT2018162	hsa-miR-24	CLIP-seq
MIRT1073537	hsa-miR-27a	CLIP-seq
MIRT1073538	hsa-miR-27b	CLIP-seq
MIRT2250032	hsa-miR-297	CLIP-seq
MIRT2250033	hsa-miR-3064-5p	CLIP-seq
MIRT2018163	hsa-miR-3118	CLIP-seq
MIRT2018164	hsa-miR-3134	CLIP-seq
MIRT1073543	hsa-miR-3179	CLIP-seq
MIRT1073545	hsa-miR-3202	CLIP-seq
MIRT2250034	hsa-miR-371-5p	CLIP-seq
MIRT2250035	hsa-miR-371b-5p	CLIP-seq
MIRT1073550	hsa-miR-3918	CLIP-seq
MIRT1073551	hsa-miR-3926	CLIP-seq
MIRT2018169	hsa-miR-4284	CLIP-seq
MIRT2018170	hsa-miR-4302	CLIP-seq
MIRT2018171	hsa-miR-4318	CLIP-seq
MIRT2018172	hsa-miR-4426	CLIP-seq
MIRT1073558	hsa-miR-4428	CLIP-seq
MIRT2250036	hsa-miR-4433	CLIP-seq
MIRT2250037	hsa-miR-4459	CLIP-seq
MIRT2018173	hsa-miR-4474-3p	CLIP-seq
MIRT1073561	hsa-miR-4492	CLIP-seq
MIRT1073562	hsa-miR-4498	CLIP-seq
MIRT1073563	hsa-miR-4533	CLIP-seq
MIRT2250038	hsa-miR-455-5p	CLIP-seq
MIRT2250039	hsa-miR-4640-5p	CLIP-seq
MIRT2018174	hsa-miR-4647	CLIP-seq
MIRT2018176	hsa-miR-4662b	CLIP-seq
MIRT2250040	hsa-miR-4685-5p	CLIP-seq
MIRT2250041	hsa-miR-4726-5p	CLIP-seq
MIRT2250042	hsa-miR-4755-3p	CLIP-seq
MIRT1073576	hsa-miR-4763-3p	CLIP-seq
MIRT2250043	hsa-miR-4766-5p	CLIP-seq
MIRT2250044	hsa-miR-4768-3p	CLIP-seq
MIRT2250045	hsa-miR-4782-5p	CLIP-seq
MIRT2250046	hsa-miR-4794	CLIP-seq
MIRT1073579	hsa-miR-513a-5p	CLIP-seq
MIRT2250047	hsa-miR-513c	CLIP-seq
MIRT2250048	hsa-miR-514b-5p	CLIP-seq
MIRT2250049	hsa-miR-516b	CLIP-seq
MIRT1073580	hsa-miR-548s	CLIP-seq
MIRT2250050	hsa-miR-548v	CLIP-seq
MIRT2250051	hsa-miR-567	CLIP-seq
MIRT2250052	hsa-miR-622	CLIP-seq
MIRT1073582	hsa-miR-663b	CLIP-seq
MIRT2250053	hsa-miR-760	CLIP-seq
MIRT1073583	hsa-miR-762	CLIP-seq
MIRT2250054	hsa-miR-875-3p	CLIP-seq
MIRT2250055	hsa-miR-940	CLIP-seq
MIRT2018179	hsa-miR-943	CLIP-seq
MIRT2018161	hsa-miR-1825	CLIP-seq
MIRT2018161	hsa-miR-1825	CLIP-seq
MIRT2018162	hsa-miR-24	CLIP-seq
MIRT2018164	hsa-miR-3134	CLIP-seq
MIRT2018169	hsa-miR-4284	CLIP-seq
MIRT2018170	hsa-miR-4302	CLIP-seq
MIRT2018172	hsa-miR-4426	CLIP-seq
MIRT2018173	hsa-miR-4474-3p	CLIP-seq
MIRT2018174	hsa-miR-4647	CLIP-seq
MIRT2018176	hsa-miR-4662b	CLIP-seq
MIRT1073528	hsa-miR-1286	CLIP-seq
MIRT1073537	hsa-miR-27a	CLIP-seq
MIRT1073538	hsa-miR-27b	CLIP-seq
MIRT1073544	hsa-miR-3188	CLIP-seq
MIRT1073571	hsa-miR-4708-5p	CLIP-seq
MIRT1073572	hsa-miR-4722-5p	CLIP-seq
MIRT1073575	hsa-miR-4756-3p	CLIP-seq
MIRT1073579	hsa-miR-513a-5p	CLIP-seq
MIRT1073525	hsa-miR-1193	CLIP-seq
MIRT1073526	hsa-miR-1207-5p	CLIP-seq
MIRT2553548	hsa-miR-1226	CLIP-seq
MIRT2250022	hsa-miR-1287	CLIP-seq
MIRT2250023	hsa-miR-1299	CLIP-seq
MIRT2018160	hsa-miR-134	CLIP-seq
MIRT2250027	hsa-miR-149	CLIP-seq
MIRT2018161	hsa-miR-1825	CLIP-seq
MIRT2018162	hsa-miR-24	CLIP-seq
MIRT1073539	hsa-miR-296-5p	CLIP-seq
MIRT2250033	hsa-miR-3064-5p	CLIP-seq
MIRT2018163	hsa-miR-3118	CLIP-seq
MIRT1073541	hsa-miR-3151	CLIP-seq
MIRT1073546	hsa-miR-342-5p	CLIP-seq
MIRT1073550	hsa-miR-3918	CLIP-seq
MIRT2018169	hsa-miR-4284	CLIP-seq
MIRT2553549	hsa-miR-4285	CLIP-seq
MIRT1073556	hsa-miR-4313	CLIP-seq
MIRT2018171	hsa-miR-4318	CLIP-seq
MIRT2553550	hsa-miR-4462	CLIP-seq
MIRT2018173	hsa-miR-4474-3p	CLIP-seq
MIRT2553551	hsa-miR-4641	CLIP-seq
MIRT1073566	hsa-miR-4651	CLIP-seq
MIRT1073567	hsa-miR-4664-5p	CLIP-seq
MIRT1073576	hsa-miR-4763-3p	CLIP-seq
MIRT2250045	hsa-miR-4782-5p	CLIP-seq
MIRT2250046	hsa-miR-4794	CLIP-seq
MIRT1073578	hsa-miR-486-3p	CLIP-seq
MIRT2553552	hsa-miR-501-3p	CLIP-seq
MIRT2553553	hsa-miR-502-3p	CLIP-seq
MIRT2250049	hsa-miR-516b	CLIP-seq
MIRT1073581	hsa-miR-608	CLIP-seq
MIRT2553554	hsa-miR-615-5p	CLIP-seq
MIRT2553555	hsa-miR-634	CLIP-seq
MIRT2553556	hsa-miR-767-5p	CLIP-seq
MIRT2250054	hsa-miR-875-3p	CLIP-seq
MIRT2018179	hsa-miR-943	CLIP-seq
MIRT2250022	hsa-miR-1287	CLIP-seq
MIRT2250023	hsa-miR-1299	CLIP-seq
MIRT2250027	hsa-miR-149	CLIP-seq
MIRT2250033	hsa-miR-3064-5p	CLIP-seq
MIRT2250045	hsa-miR-4782-5p	CLIP-seq
MIRT2250046	hsa-miR-4794	CLIP-seq
MIRT2250049	hsa-miR-516b	CLIP-seq
MIRT2553554	hsa-miR-615-5p	CLIP-seq
MIRT2250054	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0001968	Function	Fibronectin binding	IEA
GO:0002020	Function	Protease binding	IPI	10455171
GO:0003008	Process	System process	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005515	Function	Protein binding	IPI	1911778, 9360996, 10811835, 14557253, 14676841, 24220332, 30021884, 33961781
GO:0005518	Function	Collagen binding	IEA
GO:0005886	Component	Plasma membrane	IDA	21310825
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	TAS	1655803
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0007507	Process	Heart development	IEA
GO:0007613	Process	Memory	IEA
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008305	Component	Integrin complex	TAS	1655803
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19933311, 20563599, 21310825, 24220332, 25063885
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IMP	24621570
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IMP	24621570
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IMP	24621570
GO:0030426	Component	Growth cone	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	IMP	24621570
GO:0031345	Process	Negative regulation of cell projection organization	IEA
GO:0031527	Component	Filopodium membrane	IDA	10455171
GO:0031527	Component	Filopodium membrane	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0034667	Component	Integrin alpha3-beta1 complex	IDA	25063885
GO:0034667	Component	Integrin alpha3-beta1 complex	IEA
GO:0034667	Component	Integrin alpha3-beta1 complex	IMP	24220332
GO:0034698	Process	Response to gonadotropin	IEA
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IEA
GO:0035024	Process	Negative regulation of Rho protein signal transduction	ISS
GO:0035640	Process	Exploration behavior	IEA
GO:0035640	Process	Exploration behavior	ISS
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043236	Function	Laminin binding	IEA
GO:0043588	Process	Skin development	IMP	24621570
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	10455171
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048731	Process	System development	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050900	Process	Leukocyte migration	IBA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA
GO:0071944	Component	Cell periphery	IDA	24220332
GO:0072006	Process	Nephron development	IMP	24621570
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097062	Process	Dendritic spine maintenance	IEA
GO:0097062	Process	Dendritic spine maintenance	ISS
GO:0097205	Process	Renal filtration	IMP	24621570
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099173	Process	Postsynapse organization	IEA
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IDA	10455171
GO:1990812	Component	Growth cone filopodium	IEA

Other IDs

• MIM: 605025
• HGNC: 6139
• e!Ensembl: ENSG00000005884

Protein

• UniProt ID: P26006
• Protein name: Integrin alpha-3 (CD49 antigen-like family member C) (FRP-2) (Galactoprotein B3) (GAPB3) (VLA-3 subunit alpha) (CD antigen CD49c) [Cleaved into: Integrin alpha-3 heavy chain; Integrin alpha-3 light chain]
• Protein function: Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and h
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01839	FG-GAP	307 → 345	FG-GAP repeat	Repeat
  PF01839	FG-GAP	370 → 402	FG-GAP repeat	Repeat
  PF08441	Integrin_alpha2	462 → 916	Integrin alpha	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cel
• Sequence:

  MGPGPSRAPRAPRLMLCALALMVAAGGCVVSAFNLDTRFLVVKEAGNPGSLFGYSVALHR
  QTERQQRYLLLAGAPRELAVPDGYTNRTGAVYLCPLTAHKDDCERMNITVKNDPGHHIIE
  DMWLGVTVASQGPAGRVLVCAHRYTQVLWSGSEDQRRMVGKCYVRGNDLELDSSDDWQTY
  HNEMCNSNTDYLETGMCQLGTSGGFTQNTVYFGAPGAYNWKGNSYMIQRKEWDLSEYSYK
  DPEDQGNLYIGYTMQVGSFILHPKNITIVTGAPRHRHMGAVFLLSQEAGGDLRRRQVLEG
  SQVGAYFGSAIALADLNNDGWQDLLVGAPYYFERKEEVGGAIYVFMNQAGTSFPAHPSLL
  LHGPSGSAFGLSVASIGDINQDGFQDIAVGAPFEGLGKVYIYHSSSKGLLRQPQQVIHGE
  KLGLPGLATFGYSLSGQMDVDENFYPDLLVGSLSDHIVLLRARPVINIVHKTLVPRPAVL
  DPALCTATSCVQVELCFAYNQSAGNPNYRRNITLAYTLEADRDRRPPRLRFAGSESAVFH
  GFFSMPEMRCQKLELLLMDNLRDKLRPIIISMNYSLPLRMPDRPRLGLRSLDAYPILNQA
  QALENHTEVQFQKECGPDNKCESNLQMRAAFVSEQQQKLSRLQYSRDVRKLLLSINVTNT
  RTSERSGEDAHEALLTLVVPPALLLSSVRPPGACQANETIFCELGNPFKRNQRMELLIAF
  EVIGVTLHTRDLQVQLQLSTSSHQDNLWPMILTLLVDYTLQTSLSMVNHRLQSFFGGTVM
  GESGMKTVEDVGSPLKYEFQVGPMGEGLVGLGTLVLGLEWPYEVSNGKWLLYPTEITVHG
  NGSWPCRPPGDLINPLNLTLSDPGDRPSSPQRRRRQLDPGGGQGPPPVTLAAAKKAKSET
  VLTCATGRAHCVWLECPIPDAPVVTNVTVKARVWNSTFIEDYRDFDRVRVNGWATLFLRT
  SIPTINMENKTTWFSVDIDSELVEELPAEIELWLVLVAVGAGLLLLGLIILLLWKCGFFK
  RARTRALYEAKRQKAEMKSQPSETERLTDDY

• Sequence length: 1051

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Basigin interactions
Integrin cell surface interactions
Laminin interactions
MET activates PTK2 signaling

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
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Likely pathogenic; Pathogenic	rs797044989, rs797045048, rs1416855722, rs774274614, rs2508935534, rs1567701091, rs140781106, rs200810866, rs775389411	RCV000190470 RCV000191096 RCV005010888 RCV003993552 RCV000029226 RCV000029227 RCV000029228 RCV002481814 RCV001289541	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ITGA3-related disorder	Likely pathogenic	rs776593477, rs777480064, rs200623247	RCV003400245 RCV003397427 RCV004755004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs200810866	RCV005912377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs2144304926, rs140781106	RCV001849696 RCV001849284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA ORIGINATING IN THE PERINATAL PERIOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEPHROTIC SYNDROME, INTERSTITIAL LUNG DISEASE, EPIDERMOLYSIS BULLOSA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PHIMOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECZEMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE-NEPHROTIC SYNDROME-EPIDERMOLYSIS BULLOSA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	16489176, 19674850		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16732726		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	12680208		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	17498594		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31311829, 31669204		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	32851057	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	9691097	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	16103120		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28324890, 29438376, 30614803, 31190871		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31758065	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29462126	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30659093, 33500458	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	19674850		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	24621570		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24950714	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26464707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	1714443, 28324890, 29438376, 30614803, 31190871		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31311829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16489176	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29511671, 32116234	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	11115543, 25096929		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18839319		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26674523, 29758195		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24737953, 25096929, 26674523, 32705201, 7493912	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	28701000		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30235265		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	22512483		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	31190871		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37737665	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	22512483, 27717396, 34492382	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	24621570, 27717396, 30466509		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	32198874	Associate	★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG	23114595, 26719633		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	40234833	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	16459165		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23652300		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23652300, 26992919, 30497369, 31844032	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23652300		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17888902, 18464290		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23652300, 25761241		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23652300, 25761241	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	30067725	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28612520		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28612520	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25078904	Inhibit	★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	ORPHANET_DG	22512183		★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	UNIPROT_DG	22512483, 27717396		★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	GENOMICS_ENGLAND_DG	22512483		★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	CLINVAR_DG	26633545		★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	BEFREE	27717396, 30466509		★☆☆☆☆ Found in Text Mining only
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa,	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29511671		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	23114595, 26719633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	25810266, 30761300, 7967512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	22512483	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17997226		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23114595, 24621570		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23114595	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	22512483, 23114595, 27717396, 32198874, 34492382	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	24621570, 25810266, 27717396, 30466509		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22266541, 8080732	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24006899	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25472585	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25761241		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28612520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30569514, 30808960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26509963, 27509031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23533596		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30941771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28324890, 29438376, 30614803, 31190871		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26509963, 28612520, 29511671, 30810437, 31117386		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11115543, 25096929		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	12452046		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24084442	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	32157826	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28102841		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11115543, 20926544, 23533596, 24726747, 29511671, 30449496, 30808960, 9473735		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	22512483, 23114595, 27717396	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	24621570, 27717396		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	23114595, 24621570, 25810266, 27717396		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	23114595, 27717396, 32198874, 34492382	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural Tube Defects	Neural Tube Defect	BEFREE	23376398		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31432180		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31432180	Associate	★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	31190871		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24381140		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34335109	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30569514, 30808960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29764514, 37270717	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30449496, 30941771		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	20926544, 22808003	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39253602	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26509963, 27509031		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26509963, 27509031	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	27717396	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25278585		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27717396	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16489176, 24006899, 25078904		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18224668		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18224668, 20497865, 24006899, 24769516, 28415821, 28612520, 33227411, 33456497	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33099569	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28612520		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	18224668		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23533596		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	7493912	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20926544, 22808003, 23533596, 25472585	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30941771	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30941771		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30941771		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26985959, 30941771, 34791326, 34938358	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24726747		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28324890, 30614803	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39511266	Stimulate	★☆☆☆☆ Found in Text Mining only