ITGB3 (integrin subunit beta 3)

Gene

• Entrez ID: 3690
• Gene name: Integrin subunit beta 3
• Gene symbol: ITGB3
• Synonyms (NCBI Gene): BDPLT16, BDPLT2, BDPLT24, CD61, FMAIT1, GP3A, GPIIIa, GT, GT2
• Chromosome: 17
• Chromosome location: 17q21.32
• Summary: The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5918	T>C	Risk-factor, benign, likely-benign	Coding sequence variant, missense variant
rs79560904	G>A	Pathogenic	Missense variant, coding sequence variant
rs79775494	A>T	Pathogenic	Missense variant, coding sequence variant
rs121918444	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918445	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918446	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918449	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918451	G>T	Pathogenic	Coding sequence variant, stop gained
rs121918452	T>G	Pathogenic	Coding sequence variant, missense variant
rs398122373	G>C	Pathogenic	Splice donor variant
rs749261962	A>G	Likely-pathogenic	Splice acceptor variant
rs781062792	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs958609406	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518837	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057518838	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1199275720	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1302506624	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1386425657	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567764064	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598690937	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598690979	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1598694640	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598700249	TTTTATTCCTCCATTTTCCCTACTCCCAGAGGACACTGGCAAGGATGCAGTGAATTGTACCTATAAGAATGAGGATGACTGTGTCGTCAGATTCCAGTACTATGAAGATTCTAGTGGAAAGTCCATCCTGTATGTGGTAGAAGAGCCAGGTGAGTGAACCCTGACGGCTCCCG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000708	hsa-let-7a-5p	qRT-PCR, Luciferase reporter assay, Western blot	18679415
MIRT000708	hsa-let-7a-5p	Luciferase reporter assay	18679415
MIRT005833	hsa-miR-204-5p	Microarray	21282569
MIRT007133	hsa-miR-30c-5p	qRT-PCR	23418453
MIRT022107	hsa-miR-125b-5p	Other	20194440
MIRT048710	hsa-miR-98-5p	CLASH	23622248
MIRT054066	hsa-let-7c-5p	H157	23981581
MIRT054066	hsa-let-7c-5p	H157	23981581
MIRT054066	hsa-let-7c-5p	H157	23981581
MIRT054476	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	24443232
MIRT438114	hsa-miR-124-3p	Luciferase reporter assay	23451109
MIRT438114	hsa-miR-124-3p	Luciferase reporter assay	23451109
MIRT677985	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677984	hsa-miR-5693	HITS-CLIP	23824327
MIRT677983	hsa-miR-6089	HITS-CLIP	23824327
MIRT677982	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT677981	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT677980	hsa-miR-449a	HITS-CLIP	23824327
MIRT677979	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT677978	hsa-miR-4284	HITS-CLIP	23824327
MIRT677977	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT677976	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT677975	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT677974	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT677973	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT677972	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT677971	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT677970	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT677969	hsa-miR-7977	HITS-CLIP	23824327
MIRT677968	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT677967	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT677966	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT677965	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT677964	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT677963	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT677962	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT677961	hsa-miR-3689c	HITS-CLIP	23824327
MIRT677960	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT677959	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT677958	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT677957	hsa-miR-3122	HITS-CLIP	23824327
MIRT677956	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT677955	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT677954	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT731716	hsa-miR-17-3p	Luciferase reporter assay, qRT-PCR, Western blot	27499367
MIRT731716	hsa-miR-17-3p	Luciferase reporter assay, qRT-PCR, Western blot	27499367
MIRT732305	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	27576787
MIRT732305	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	27576787
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT054476	hsa-miR-320a	Immunofluorescence, Luciferase reporter assay, Western blot	25924850
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	26445551
MIRT048710	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	26445551
MIRT677985	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT677984	hsa-miR-5693	HITS-CLIP	23824327
MIRT677983	hsa-miR-6089	HITS-CLIP	23824327
MIRT677982	hsa-miR-34a-5p	HITS-CLIP	23824327
MIRT677981	hsa-miR-34c-5p	HITS-CLIP	23824327
MIRT677980	hsa-miR-449a	HITS-CLIP	23824327
MIRT677979	hsa-miR-449b-5p	HITS-CLIP	23824327
MIRT677978	hsa-miR-4284	HITS-CLIP	23824327
MIRT677977	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT677976	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT677975	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT677974	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT677973	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT677972	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT677971	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT677970	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT677969	hsa-miR-7977	HITS-CLIP	23824327
MIRT677968	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT677967	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT677966	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT677965	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT677964	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT677963	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT677962	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT677961	hsa-miR-3689c	HITS-CLIP	23824327
MIRT677960	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT677959	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT677958	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT677957	hsa-miR-3122	HITS-CLIP	23824327
MIRT677956	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT677955	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT677954	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT1074106	hsa-miR-1185	CLIP-seq
MIRT1074107	hsa-miR-1225-3p	CLIP-seq
MIRT1074108	hsa-miR-1228	CLIP-seq
MIRT1074109	hsa-miR-124	CLIP-seq
MIRT1074110	hsa-miR-139-5p	CLIP-seq
MIRT1074111	hsa-miR-145	CLIP-seq
MIRT1074112	hsa-miR-22	CLIP-seq
MIRT1074113	hsa-miR-25	CLIP-seq
MIRT1074114	hsa-miR-2681	CLIP-seq
MIRT1074115	hsa-miR-3120-3p	CLIP-seq
MIRT1074116	hsa-miR-3161	CLIP-seq
MIRT1074117	hsa-miR-3163	CLIP-seq
MIRT1074118	hsa-miR-3184	CLIP-seq
MIRT1074119	hsa-miR-3190	CLIP-seq
MIRT1074120	hsa-miR-32	CLIP-seq
MIRT1074121	hsa-miR-3200-5p	CLIP-seq
MIRT1074122	hsa-miR-3605-5p	CLIP-seq
MIRT1074123	hsa-miR-3614-3p	CLIP-seq
MIRT1074124	hsa-miR-363	CLIP-seq
MIRT1074125	hsa-miR-3653	CLIP-seq
MIRT1074126	hsa-miR-3658	CLIP-seq
MIRT1074127	hsa-miR-367	CLIP-seq
MIRT1074128	hsa-miR-3679-5p	CLIP-seq
MIRT1074129	hsa-miR-3911	CLIP-seq
MIRT1074130	hsa-miR-409-3p	CLIP-seq
MIRT1074131	hsa-miR-423-5p	CLIP-seq
MIRT1074132	hsa-miR-4282	CLIP-seq
MIRT1074133	hsa-miR-4318	CLIP-seq
MIRT1074134	hsa-miR-4325	CLIP-seq
MIRT1074135	hsa-miR-4328	CLIP-seq
MIRT1074136	hsa-miR-4421	CLIP-seq
MIRT1074137	hsa-miR-4455	CLIP-seq
MIRT1074138	hsa-miR-4470	CLIP-seq
MIRT1074139	hsa-miR-4519	CLIP-seq
MIRT1074140	hsa-miR-4649-3p	CLIP-seq
MIRT1074141	hsa-miR-4712-3p	CLIP-seq
MIRT1074142	hsa-miR-4732-5p	CLIP-seq
MIRT1074143	hsa-miR-4749-3p	CLIP-seq
MIRT1074144	hsa-miR-490-5p	CLIP-seq
MIRT1074145	hsa-miR-506	CLIP-seq
MIRT1074146	hsa-miR-520a-5p	CLIP-seq
MIRT1074147	hsa-miR-525-5p	CLIP-seq
MIRT1074148	hsa-miR-544	CLIP-seq
MIRT1074149	hsa-miR-548an	CLIP-seq
MIRT1074150	hsa-miR-558	CLIP-seq
MIRT1074151	hsa-miR-663b	CLIP-seq
MIRT1074152	hsa-miR-767-3p	CLIP-seq
MIRT1074153	hsa-miR-92a	CLIP-seq
MIRT1074154	hsa-miR-92b	CLIP-seq
MIRT1074111	hsa-miR-145	CLIP-seq
MIRT2018314	hsa-miR-204	CLIP-seq
MIRT2018315	hsa-miR-211	CLIP-seq
MIRT2018316	hsa-miR-3164	CLIP-seq
MIRT2018317	hsa-miR-3609	CLIP-seq
MIRT2018318	hsa-miR-4327	CLIP-seq
MIRT1074135	hsa-miR-4328	CLIP-seq
MIRT2018319	hsa-miR-4453	CLIP-seq
MIRT2018320	hsa-miR-4538	CLIP-seq
MIRT2018321	hsa-miR-4708-3p	CLIP-seq
MIRT2018322	hsa-miR-4755-5p	CLIP-seq
MIRT2018323	hsa-miR-4780	CLIP-seq
MIRT1074144	hsa-miR-490-5p	CLIP-seq
MIRT1074148	hsa-miR-544	CLIP-seq
MIRT2018324	hsa-miR-548ah	CLIP-seq
MIRT2018325	hsa-miR-617	CLIP-seq
MIRT2018326	hsa-miR-623	CLIP-seq
MIRT1074152	hsa-miR-767-3p	CLIP-seq
MIRT1074108	hsa-miR-1228	CLIP-seq
MIRT2250183	hsa-miR-1236	CLIP-seq
MIRT2250184	hsa-miR-1246	CLIP-seq
MIRT2250185	hsa-miR-3127-5p	CLIP-seq
MIRT2250186	hsa-miR-3173-5p	CLIP-seq
MIRT2250187	hsa-miR-329	CLIP-seq
MIRT2250188	hsa-miR-362-3p	CLIP-seq
MIRT2250189	hsa-miR-3941	CLIP-seq
MIRT2250190	hsa-miR-4320	CLIP-seq
MIRT2250191	hsa-miR-4438	CLIP-seq
MIRT2250192	hsa-miR-4659a-3p	CLIP-seq
MIRT2250193	hsa-miR-4659b-3p	CLIP-seq
MIRT2250194	hsa-miR-4690-3p	CLIP-seq
MIRT2250195	hsa-miR-4753-3p	CLIP-seq
MIRT2250196	hsa-miR-5095	CLIP-seq
MIRT2250197	hsa-miR-603	CLIP-seq
MIRT1074151	hsa-miR-663b	CLIP-seq
MIRT2250198	hsa-miR-938	CLIP-seq
MIRT2250199	hsa-miR-942	CLIP-seq
MIRT1074111	hsa-miR-145	CLIP-seq
MIRT1074135	hsa-miR-4328	CLIP-seq
MIRT1074144	hsa-miR-490-5p	CLIP-seq
MIRT1074148	hsa-miR-544	CLIP-seq
MIRT1074152	hsa-miR-767-3p	CLIP-seq
MIRT2437978	hsa-let-7a	CLIP-seq
MIRT2437979	hsa-let-7b	CLIP-seq
MIRT2437980	hsa-let-7c	CLIP-seq
MIRT2437981	hsa-let-7d	CLIP-seq
MIRT2437982	hsa-let-7e	CLIP-seq
MIRT2437983	hsa-let-7f	CLIP-seq
MIRT2437984	hsa-let-7g	CLIP-seq
MIRT2437985	hsa-let-7i	CLIP-seq
MIRT2437986	hsa-miR-1205	CLIP-seq
MIRT2437987	hsa-miR-1229	CLIP-seq
MIRT2437988	hsa-miR-1286	CLIP-seq
MIRT2437989	hsa-miR-1302	CLIP-seq
MIRT2437990	hsa-miR-202	CLIP-seq
MIRT2437991	hsa-miR-205	CLIP-seq
MIRT2437992	hsa-miR-3173-3p	CLIP-seq
MIRT2437993	hsa-miR-3192	CLIP-seq
MIRT2437994	hsa-miR-320b	CLIP-seq
MIRT2437995	hsa-miR-320c	CLIP-seq
MIRT2437996	hsa-miR-320d	CLIP-seq
MIRT2437997	hsa-miR-320e	CLIP-seq
MIRT2437998	hsa-miR-3612	CLIP-seq
MIRT2437999	hsa-miR-3620	CLIP-seq
MIRT2438000	hsa-miR-3938	CLIP-seq
MIRT2438001	hsa-miR-4298	CLIP-seq
MIRT2438002	hsa-miR-4314	CLIP-seq
MIRT2438003	hsa-miR-4420	CLIP-seq
MIRT2438004	hsa-miR-4428	CLIP-seq
MIRT2438005	hsa-miR-4429	CLIP-seq
MIRT2438006	hsa-miR-4457	CLIP-seq
MIRT2438007	hsa-miR-4458	CLIP-seq
MIRT2438008	hsa-miR-4459	CLIP-seq
MIRT2438009	hsa-miR-4500	CLIP-seq
MIRT2438010	hsa-miR-4521	CLIP-seq
MIRT2438011	hsa-miR-4646-5p	CLIP-seq
MIRT2438012	hsa-miR-4695-5p	CLIP-seq
MIRT2438013	hsa-miR-4722-5p	CLIP-seq
MIRT2438014	hsa-miR-513b	CLIP-seq
MIRT2438015	hsa-miR-650	CLIP-seq
MIRT1074152	hsa-miR-767-3p	CLIP-seq
MIRT2438016	hsa-miR-98	CLIP-seq
MIRT2452003	hsa-miR-4424	CLIP-seq
MIRT2452004	hsa-miR-4499	CLIP-seq
MIRT2452005	hsa-miR-4682	CLIP-seq
MIRT2452006	hsa-miR-548u	CLIP-seq
MIRT2553702	hsa-miR-1234	CLIP-seq
MIRT2250183	hsa-miR-1236	CLIP-seq
MIRT2553703	hsa-miR-1245b-3p	CLIP-seq
MIRT2553704	hsa-miR-125a-5p	CLIP-seq
MIRT2553705	hsa-miR-125b	CLIP-seq
MIRT2553706	hsa-miR-1321	CLIP-seq
MIRT2553707	hsa-miR-150	CLIP-seq
MIRT2553708	hsa-miR-1827	CLIP-seq
MIRT2553709	hsa-miR-186	CLIP-seq
MIRT2437991	hsa-miR-205	CLIP-seq
MIRT2553710	hsa-miR-2467-3p	CLIP-seq
MIRT2553711	hsa-miR-3126-5p	CLIP-seq
MIRT2250185	hsa-miR-3127-5p	CLIP-seq
MIRT2553712	hsa-miR-3136-3p	CLIP-seq
MIRT2553713	hsa-miR-3153	CLIP-seq
MIRT2437992	hsa-miR-3173-3p	CLIP-seq
MIRT2250186	hsa-miR-3173-5p	CLIP-seq
MIRT2437998	hsa-miR-3612	CLIP-seq
MIRT2553714	hsa-miR-3677-5p	CLIP-seq
MIRT2438000	hsa-miR-3938	CLIP-seq
MIRT2553715	hsa-miR-4257	CLIP-seq
MIRT2553716	hsa-miR-4270	CLIP-seq
MIRT2553717	hsa-miR-4319	CLIP-seq
MIRT2553718	hsa-miR-4419a	CLIP-seq
MIRT2553719	hsa-miR-4441	CLIP-seq
MIRT2553720	hsa-miR-4480	CLIP-seq
MIRT2553721	hsa-miR-4481	CLIP-seq
MIRT2553722	hsa-miR-4510	CLIP-seq
MIRT2553723	hsa-miR-4665-3p	CLIP-seq
MIRT2438012	hsa-miR-4695-5p	CLIP-seq
MIRT2553724	hsa-miR-4739	CLIP-seq
MIRT2553725	hsa-miR-4745-5p	CLIP-seq
MIRT2250195	hsa-miR-4753-3p	CLIP-seq
MIRT2553726	hsa-miR-4756-5p	CLIP-seq
MIRT2553727	hsa-miR-4758-5p	CLIP-seq
MIRT2553728	hsa-miR-4793-5p	CLIP-seq
MIRT2553729	hsa-miR-483-3p	CLIP-seq
MIRT2438014	hsa-miR-513b	CLIP-seq
MIRT2553730	hsa-miR-544b	CLIP-seq
MIRT2438015	hsa-miR-650	CLIP-seq
MIRT1074151	hsa-miR-663b	CLIP-seq
MIRT2250198	hsa-miR-938	CLIP-seq
MIRT2250199	hsa-miR-942	CLIP-seq
MIRT2250183	hsa-miR-1236	CLIP-seq
MIRT2250185	hsa-miR-3127-5p	CLIP-seq
MIRT2250186	hsa-miR-3173-5p	CLIP-seq
MIRT2553716	hsa-miR-4270	CLIP-seq
MIRT2553719	hsa-miR-4441	CLIP-seq
MIRT2250195	hsa-miR-4753-3p	CLIP-seq
MIRT2250198	hsa-miR-938	CLIP-seq
MIRT2250199	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	11556732
FOSL1	Repression	23319049
HOXA10	Unknown	11875117
HOXD3	Unknown	14610084
JUND	Repression	23319049
SP1	Repression	23319049

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001618	Function	Virus receptor activity	IEA
GO:0001726	Component	Ruffle	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IMP	10022831
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IEA
GO:0001968	Function	Fibronectin binding	IBA
GO:0001968	Function	Fibronectin binding	IEA
GO:0001968	Function	Fibronectin binding	IMP	24658351
GO:0002020	Function	Protease binding	IDA	22505472
GO:0002020	Function	Protease binding	IEA
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0003756	Function	Protein disulfide isomerase activity	IDA	12204115, 15466936
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005161	Function	Platelet-derived growth factor receptor binding	TAS	19267251
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	IPI	20826760
GO:0005515	Function	Protein binding	IPI	1694173, 2116421, 2478219, 10822899, 11470407, 11546839, 11884718, 11940607, 12535520, 12682293, 12695522, 12807887, 14593208, 14681217, 15062093, 15299032, 15344881, 15378069, 15466936, 16051604, 16099422, 16115959, 16275649, 16546176, 17218263, 17485491, 18045938, 18317590, 191415
GO:0005634	Component	Nucleus	IDA	22027834
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA	15466936, 19141530
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2452834
GO:0005911	Component	Cell-cell junction	IDA	19461049
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA	23023225, 25063885
GO:0005925	Component	Focal adhesion	IEA
GO:0007044	Process	Cell-substrate junction assembly	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2452834, 10429193
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	7525578, 24658351
GO:0007160	Process	Cell-matrix adhesion	NAS	19693543
GO:0007229	Process	Integrin-mediated signaling pathway	HDA	23382103
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	8837777, 10022831
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	19693543
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	21488147
GO:0007566	Process	Embryo implantation	IEA
GO:0007596	Process	Blood coagulation	TAS	1438206
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IDA	15215180
GO:0008305	Component	Integrin complex	IEA
GO:0008305	Component	Integrin complex	TAS	1438206
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23382103, 23658023
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	7525578, 19234460, 19933311, 20563599, 22505472, 23023225, 25063885
GO:0009986	Component	Cell surface	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	10022831
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IMP	15215180
GO:0010763	Process	Positive regulation of fibroblast migration	IEA
GO:0010763	Process	Positive regulation of fibroblast migration	IEA
GO:0010888	Process	Negative regulation of lipid storage	IMP	15215180
GO:0010989	Process	Negative regulation of low-density lipoprotein particle clearance	IMP	15215180
GO:0014823	Process	Response to activity	IEA
GO:0014909	Process	Smooth muscle cell migration	IMP	8837777
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IEA
GO:0015026	Function	Coreceptor activity	IEA
GO:0015026	Function	Coreceptor activity	TAS	23125415
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0017134	Function	Fibroblast growth factor binding	IDA	18441324
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	21670307
GO:0019960	Function	C-X3-C chemokine binding	IDA	23125415
GO:0030168	Process	Platelet activation	IMP	15466936
GO:0030175	Component	Filopodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030949	Process	Positive regulation of vascular endothelial growth factor receptor signaling pathway	TAS	19267251
GO:0031092	Component	Platelet alpha granule membrane	TAS
GO:0031258	Component	Lamellipodium membrane	IDA	25063885
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0031527	Component	Filopodium membrane	IDA	25063885
GO:0031528	Component	Microvillus membrane	IDA	25063885
GO:0031589	Process	Cell-substrate adhesion	IMP	19933311
GO:0031994	Function	Insulin-like growth factor I binding	IDA	19578119
GO:0032369	Process	Negative regulation of lipid transport	IMP	15215180
GO:0032587	Component	Ruffle membrane	IDA	25063885
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0032991	Component	Protein-containing complex	IDA	15344881
GO:0033627	Process	Cell adhesion mediated by integrin	IBA
GO:0033627	Process	Cell adhesion mediated by integrin	IDA	12807887
GO:0033627	Process	Cell adhesion mediated by integrin	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IMP	8837777
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	20563599
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IDA	24658351
GO:0034683	Component	Integrin alphav-beta3 complex	IDA	20826760, 22505472, 23726972, 24658351, 25063885, 31331973
GO:0034683	Component	Integrin alphav-beta3 complex	IPI	11546839
GO:0035295	Process	Tube development	TAS	19267251
GO:0035313	Process	Wound healing, spreading of epidermal cells	NAS	19693543
GO:0035866	Component	Alphav-beta3 integrin-PKCalpha complex	IDA	16014375
GO:0035866	Component	Alphav-beta3 integrin-PKCalpha complex	IEA
GO:0035867	Component	Alphav-beta3 integrin-IGF-1-IGF1R complex	IDA	19578119
GO:0035868	Component	Alphav-beta3 integrin-HMGB1 complex	IDA	20826760
GO:0036119	Process	Response to platelet-derived growth factor	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IEA
GO:0038027	Process	Apolipoprotein A-I-mediated signaling pathway	IMP	23726972
GO:0038132	Function	Neuregulin binding	IDA	20682778
GO:0042060	Process	Wound healing	IC	8837777
GO:0042470	Component	Melanosome	IDA	15466936
GO:0042802	Function	Identical protein binding	IPI	11606749, 14681217, 22178926
GO:0042995	Component	Cell projection	IEA
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	IPI	10022831
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	TAS	19267251
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0043277	Process	Apoptotic cell clearance	IGI	20826760
GO:0045124	Process	Regulation of bone resorption	IEA
GO:0045124	Process	Regulation of bone resorption	TAS	19267251
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0046718	Process	Symbiont entry into host cell	IMP	25063885
GO:0046872	Function	Metal ion binding	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0050748	Process	Negative regulation of lipoprotein metabolic process	IMP	15215180
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	8837777
GO:0050840	Function	Extracellular matrix binding	IDA	22505472
GO:0050919	Process	Negative chemotaxis	IMP	23726972
GO:0051049	Process	Regulation of transport	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051611	Process	Regulation of serotonin uptake	IEA
GO:0051611	Process	Regulation of serotonin uptake	ISS
GO:0060055	Process	Angiogenesis involved in wound healing	TAS	19267251
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070051	Function	Fibrinogen binding	IBA
GO:0070051	Function	Fibrinogen binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070442	Component	Integrin alphaIIb-beta3 complex	IPI	15378069
GO:0070527	Process	Platelet aggregation	IBA
GO:0070527	Process	Platelet aggregation	IEA
GO:0070527	Process	Platelet aggregation	IMP	15466936
GO:0071062	Component	Alphav-beta3 integrin-vitronectin complex	TAS	19267251
GO:0071133	Component	Alpha9-beta1 integrin-ADAM8 complex	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098690	Component	Glycinergic synapse	IEA
GO:0098880	Process	Maintenance of postsynaptic specialization structure	IEA
GO:0098978	Component	Glutamatergic synapse	EXP	18549786
GO:0098978	Component	Glutamatergic synapse	IDA	18549786
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	18549786
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	EXP	18549786
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IDA	18549786
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IMP	18549786
GO:0150054	Process	Regulation of postsynaptic neurotransmitter receptor diffusion trapping	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:1900731	Process	Positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway	IEA
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IEA
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IMP	10022831
GO:1901163	Process	Regulation of trophoblast cell migration	IEA
GO:1903053	Process	Regulation of extracellular matrix organization	IEA
GO:1990314	Process	Cellular response to insulin-like growth factor stimulus	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA
GO:2000406	Process	Positive regulation of T cell migration	IEA

Other IDs

• MIM: 173470
• HGNC: 6156
• e!Ensembl: ENSG00000259207

Protein

• UniProt ID: P05106
• Protein name: Integrin beta-3 (Platelet membrane glycoprotein IIIa) (GPIIIa) (CD antigen CD61)
• Protein function: Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2
• PDB: 1JV2, 1KUP, 1KUZ, 1L5G, 1M1X, 1M8O, 1MIZ, 1MK7, 1MK9, 1S4X, 1TYE, 1U8C, 2K9J, 2KNC, 2KV9, 2L1C, 2L91, 2LJD, 2LJE, 2LJF, 2MTP, 2N9Y, 2Q6W, 2RMZ, 2RN0, 2VC2, 2VDK, 2VDL, 2VDM, 2VDN, 2VDO, 2VDP, 2VDQ, 2VDR, 3FCS, 3FCU, 3IJE, 3NID, 3NIF, 3NIG, 3T3M, 3T3P, 3ZDX, 3ZDY, 3ZDZ, 3ZE0, 3ZE1, 3ZE2, 4CAK, 4G1E, 4G1M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17205	PSI_integrin	29 → 76	Integrin plexin domain	Domain
  PF00362	Integrin_beta	133 → 381	Integrin beta chain VWA domain	Domain
  PF18372	I-EGF_1	463 → 492	Integrin beta epidermal growth factor like domain 1	Domain
  PF07974	EGF_2	593 → 624	EGF-like domain	Domain
  PF07965	Integrin_B_tail	634 → 718	Integrin beta tail domain	Domain
  PF08725	Integrin_b_cyt	742 → 786	Integrin beta cytoplasmic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressed in osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis.
• Sequence:

  MRARPRPRPLWATVLALGALAGVGVGGPNICTTRGVSSCQQCLAVSPMCAWCSDEALPLG
  SPRCDLKENLLKDNCAPESIEFPVSEARVLEDRPLSDKGSGDSSQVTQVSPQRIALRLRP
  DDSKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNLGTKLATQMRKLTSNLRIGFG
  AFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKHVLTLTDQVTRFNEEVKKQSVSR
  NRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTTDAKTHIALDGRLAGIVQPNDGQCH
  VGSDNHYSASTTMDYPSLGLMTEKLSQKNINLIFAVTENVVNLYQNYSELIPGTTVGVLS
  MDSSNVLQLIVDAYGKIRSKVELEVRDLPEELSLSFNATCLNNEVIPGLKSCMGLKIGDT
  VSFSIEAKVRGCPQEKEKSFTIKPVGFKDSLIVQVTFDCDCACQAQAEPNSHRCNNGNGT
  FECGVCRCGPGWLGSQCECSEEDYRPSQQDECSPREGQPVCSQRGECLCGQCVCHSSDFG
  KITGKYCECDDFSCVRYKGEMCSGHGQCSCGDCLCDSDWTGYYCNCTTRTDTCMSSNGLL
  CSGRGKCECGSCVCIQPGSYGDTCEKCPTCPDACTFKKECVECKKFDRGALHDENTCNRY
  CRDEIESVKELKDTGKDAVNCTYKNEDDCVVRFQYYEDSSGKSILYVVEEPECPKGPDIL
  VVLLSVMGAILLIGLAALLIWKLLITIHDRKEFAKFEEERARAKWDTANNPLYKEATSTF
  TNITYRGT

• Sequence length: 788

Pathways

KEGG:

Virion - Herpesvirus
Rap1 signaling pathway
Hormone signaling
Phagosome
Efferocytosis
PI3K-Akt signaling pathway
Osteoclast differentiation
Focal adhesion
ECM-receptor interaction
Platelet activation
Neutrophil extracellular trap formation
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Human cytomegalovirus infection
Human papillomavirus infection
Herpes simplex virus 1 infection
Proteoglycans in cancer
MicroRNAs in cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Fluid shear stress and atherosclerosis

Reactome:

Platelet degranulation
Elastic fibre formation
PECAM1 interactions
Molecules associated with elastic fibres
Integrin cell surface interactions
Syndecan interactions
ECM proteoglycans
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
VEGFA-VEGFR2 Pathway
Signal transduction by L1
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic; Pathogenic	rs1057518838, rs1057518837, rs1199275720, rs777748046	RCV000415046 RCV000414924 RCV000851903 RCV001270533
Bleeding disorder, platelet-type, 24	Likely pathogenic; Pathogenic	rs774332906, rs2065118116, rs1567765995, rs1431211616, rs144884023, rs377162158, rs121918444, rs121918450, rs121918452, rs987869733, rs143146734, rs398122372, rs398122373, rs958609406, rs745766760, rs1022839092, rs2064977538, rs767548512, rs764779088, rs75427428, rs368325996, rs77963874, rs746626039	RCV001564043 RCV005014597 RCV002261474 RCV002267597 RCV005019223 RCV005019224 RCV005229790 RCV005016261 RCV005016262 RCV005014897 RCV005392823 RCV000043480 RCV000043481 RCV005021313 RCV005021384 RCV005021540 RCV005014259 RCV002280901 RCV005014258 RCV005014336 RCV005014333 RCV005014335 RCV005014334
Cervical cancer	Likely pathogenic	rs74458693	RCV005910915
Glanzmann thrombasthenia	Likely pathogenic; Pathogenic	rs201806801, rs2065096678, rs2143097053, rs2143097219, rs2065118116, rs2143107081, rs2143113218, rs1399789771, rs2143113675, rs747534508, rs2143138190, rs2143158065, rs2143113460, rs13306476, rs1438135616, rs1458116788, rs2143109012, rs2143138162, rs2143097158, rs2143112489, rs2143129998, rs2143129828, rs2143129755, rs2065105940, rs1205019601, rs777913442, rs2143098907, rs2143113595, rs2143098979, rs2143112940, rs1199275720, rs2143090512, rs2143093355, rs2143099209, rs2143068680, rs887221055, rs2143133343, rs2143133455, rs2143105830, rs1567766810, rs2143130130, rs2143150614, rs2143096900, rs185135224, rs2143138089, rs2143109249, rs1739770567, rs2143092554, rs2143112826, rs754250394, rs758289890, rs2547617068, rs747621401, rs2547616302, rs2143113586, rs2547615939, rs2547613560, rs2065130922, rs2547613559, rs144884023, rs377162158, rs902952044, rs2065129084, rs2547613593, rs2547618403, rs747116356, rs2143113385, rs1555572859, rs1442321434, rs2547617042, rs373150039, rs1435104438, rs780043425, rs2547616779, rs2547623841, rs2547623734, rs2547618014, rs121918444, rs121918445, rs121918446, rs121918449, rs121918450, rs121918451, rs121918452, rs373450805, rs2547621060, rs2547619081, rs2547623783, rs2547619090, rs143146734, rs1057518838, rs1057518837, rs1567764064, rs1302506624, rs1598690979, rs1386425657, rs199866795, rs1567764299, rs1598690937, rs958609406, rs745766760, rs1022839092, rs2064977538, rs1880497383, rs2065055824, rs753932639, rs767548512, rs1038392991, rs2065102210, rs2065103002, rs1193381168, rs2065118104, rs1255017270, rs1393664515, rs1397448267, rs2065157102, rs780710721, rs764779088, rs2065163860, rs780384800, rs2065157059, rs75427428, rs75354240, rs1399113954, rs368325996, rs77963874, rs2065102310, rs79208797, rs746626039, rs758633284, rs2065102917, rs2065117719, rs2065117726, rs2065117736, rs74458693, rs1395325049, rs1181336139, rs2065158302	RCV001580244 RCV001580218 RCV001580220 RCV001580213 RCV001580247 RCV001580246 RCV001580232 RCV001580233 RCV001580227 RCV001580262 RCV001580240 RCV001580261 RCV001580256 RCV001803403 RCV001803404 RCV001803406 RCV001803407 RCV001803408 RCV001803409 RCV001803414 RCV001803415 RCV001803416 RCV001803417 RCV001803424 RCV001803425 RCV001803426 RCV001803427 RCV001803428 RCV001803429 RCV001803430 RCV001803431 RCV001803432 RCV001803433 RCV001803434 RCV001803442 RCV001803445 RCV004577562 RCV002511140 RCV002254792 RCV002254794 RCV002254795 RCV002254796 RCV002254799 RCV002254802 RCV002254811 RCV002254814 RCV002254816 RCV002254817 RCV002254818 RCV002254822 RCV004577564 RCV002511509 RCV002511510 RCV002511516 RCV002511517 RCV002511518 RCV002511522 RCV002511528 RCV002511533 RCV002511542 RCV002511543 RCV002511544 RCV002511546 RCV002511548 RCV002511555 RCV002511560 RCV003222557 RCV003222559 RCV003222562 RCV003222565 RCV003222571 RCV003222573 RCV003222577 RCV003222582 RCV003234995 RCV003234997 RCV003330344 RCV003459891 RCV001580254 RCV000014513 RCV001580253 RCV001801833 RCV000014532 RCV001801834 RCV001580250 RCV004018191 RCV004577679 RCV004577680 RCV004577681 RCV004577683 RCV004577686 RCV004577691 RCV003221968 RCV003221967 RCV000761244 RCV000851823 RCV000851787 RCV000851871 RCV002510970 RCV000852023 RCV000778500 RCV000778501 RCV000985156 RCV001003533 RCV001580245 RCV001225262 RCV001225287 RCV001225279 RCV001225265 RCV001225301 RCV001225290 RCV001225299 RCV001225284 RCV001225289 RCV001225285 RCV001225260 RCV001225244 RCV001225297 RCV001225242 RCV001225239 RCV001225240 RCV001225286 RCV001225277 RCV001225241 RCV001225288 RCV001254668 RCV001254669 RCV001290487 RCV001290480 RCV001290503 RCV001290460 RCV001290482 RCV001290496 RCV001290457 RCV001290472 RCV001290458 RCV001290469 RCV001290484 RCV001290470 RCV001290453 RCV001290478 RCV001290468 RCV001290476 RCV001290456 RCV001290473
Glanzmann thrombasthenia 1	Pathogenic; Likely pathogenic	rs2143097219, rs887221055, rs2143133343, rs754250394, rs121918446, rs121918450, rs121918452, rs767548512, rs79208797	RCV002254214 RCV002245360 RCV002245424 RCV002264879 RCV002243643 RCV002243644 RCV003448246 RCV002254202 RCV002254211
Glanzmann thrombasthenia 2	Likely pathogenic; Pathogenic	rs2065118116, rs747534508, rs2143112940, rs2143099209, rs2143138089, rs1739770567, rs144884023, rs377162158, rs2547613531, rs1373910050, rs2547621015, rs2547621050, rs121918444, rs121918445, rs121918446, rs2143068731, rs121918449, rs121918450, rs121918451, rs121918452, rs987869733, rs143146734, rs1598690937, rs958609406, rs745766760, rs1022839092, rs2064977538, rs767548512, rs1038392991, rs764779088, rs780384800, rs185135224, rs75427428, rs368325996, rs77963874, rs2065102310, rs79208797, rs746626039	RCV005014597 RCV004801041 RCV003339746 RCV004728822 RCV002286590 RCV003987989 RCV005019223 RCV005019224 RCV005240694 RCV003153134 RCV003236384 RCV003337900 RCV000014512 RCV001374370 RCV000014514 RCV000014527 RCV000014530 RCV001374371 RCV000014533 RCV000014535 RCV005014897 RCV005392823 RCV004798869 RCV004761848 RCV004689952 RCV003152747 RCV004587079 RCV005014259 RCV002281175 RCV004561999 RCV005014258 RCV005860196 RCV004800757 RCV005014336 RCV005014333 RCV002222693 RCV002222694 RCV005236768 RCV005014334
Hyper-IgE recurrent infection syndrome 1, autosomal dominant	Pathogenic	rs121918450	RCV004813040
ITGB3-related disorder	Pathogenic; Likely pathogenic	rs780384800, rs368325996	RCV004751928 RCV003393952
Macrothrombocytopenia	Likely pathogenic	rs1598700249	RCV000852270
Myocardial infarction, susceptibility to	Likely pathogenic; Pathogenic	rs2065118116, rs144884023, rs377162158, rs121918444, rs121918450, rs121918452, rs987869733, rs958609406, rs745766760, rs1022839092, rs2064977538, rs764779088, rs75427428, rs368325996, rs77963874, rs746626039	RCV005014597 RCV005019223 RCV005019224 RCV004795409 RCV005016261 RCV005016262 RCV005014897 RCV005021313 RCV005021384 RCV005021540 RCV005014259 RCV005014258 RCV005014336 RCV005014333 RCV005014335 RCV005014334
Platelet-type bleeding disorder 16	Pathogenic; Likely pathogenic	rs121918444, rs121918450, rs1057518838, rs1057518837, rs746626039	RCV002243642 RCV001335177 RCV001197460 RCV001197459 RCV002245948
Prolonged bleeding time	Likely pathogenic; Pathogenic	rs1057518838, rs1057518837	RCV000415046 RCV000414924
Thrombocytopenia	Likely pathogenic	rs777748046	RCV001270533

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal platelet aggregation	Uncertain significance; Conflicting classifications of pathogenicity	rs1598694591, rs1598702827	RCV000852012 RCV000852078
Acute myeloid leukemia	Benign	rs11867253, rs115526188	RCV005914850 RCV005924578
Ca/Tu ALLOANTIGEN POLYMORPHISM	Benign	rs13306487	RCV000014528
Cholangiocarcinoma	Benign	rs11867253, rs1969267	RCV005914854 RCV005914704
Fetal and neonatal alloimmune thrombocytopenia	association	rs1555572829	RCV000515766
Gastric cancer	Benign	rs11867253	RCV005914851
Malignant tumor of esophagus	Uncertain significance	rs749261962	RCV005897334
Mo ALLOANTIGEN POLYMORPHISM	Uncertain significance	rs121918448	RCV000014525
Ovarian serous cystadenocarcinoma	Benign	rs115526188	RCV005924581
PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM	Benign	rs5917	RCV000014516
PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM	Benign	rs5918	RCV000014519
Sarcoma	Benign	rs115526188	RCV005924580
See cases	Uncertain significance	rs2065172207	RCV002252943
Thymoma	Benign	rs11867253	RCV005914853
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs772418775	RCV005901182
Uterine carcinosarcoma	Benign	rs11867253, rs115526188	RCV005914852 RCV005924582
Uterine corpus endometrial carcinoma	Benign	rs115526188	RCV005924583

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	21109038, 22698642
Acute Coronary Syndrome	Associate	16412022
Acute Phase Reaction	Inhibit	27960568
Adenocarcinoma	Associate	25066397
Adenocarcinoma of Lung	Associate	25066397, 28860622
Alzheimer Disease	Associate	28318110
Anemia Sickle Cell	Associate	9840906
Angina Stable	Associate	18035074
Angina Unstable	Associate	10583927, 15346842
Arthritis Rheumatoid	Associate	10792278
Asthma	Associate	15817799, 19264973, 21570717, 23451109
Atherosclerosis	Associate	21322770, 8876221
Autism Spectrum Disorder	Associate	21102624
Autistic Disorder	Associate	17203304, 17999363, 19588468, 21102624
Autoimmune Diseases	Associate	34462261
Bernard Soulier Syndrome	Associate	25370924, 40565512, 8916947
Blood Platelet Disorders	Associate	19336737, 20563533, 22271903, 25728920, 26096001, 26440977, 3006053, 31088191, 31356179, 3165296, 32723322, 33600779, 34066320, 35260724, 37604334, 38007062, 40251671
Bone Diseases Metabolic	Associate	40251671
Brain Ischemia	Associate	11514957
Brain Neoplasms	Associate	24289603, 26689941
Breast Neoplasms	Associate	15970922, 21935711, 22791584, 23981902, 25106495, 26167915, 29498809, 29698974, 30336071, 32894234, 39201327, 9695977
Camurati Engelmann Syndrome	Associate	36325441
Cap Myopathy	Associate	19470770
Carcinoma Hepatocellular	Associate	19118033, 31684995, 37603520, 38235317
Carcinoma Non Small Cell Lung	Associate	27901069, 28860622, 29284478, 35805163
Carcinoma Pancreatic Ductal	Associate	33550277, 36905103
Carcinoma Renal Cell	Associate	24862756
Cardiac Output Low	Associate	38007062
Cardiovascular Diseases	Associate	11514957, 20846430, 32723322
Carotid Artery Thrombosis	Associate	10354127
Carotid Stenosis	Associate	30914039
Celiac Disease	Inhibit	24971453
Central Nervous System Diseases	Stimulate	36944577
Cerebral Infarction	Associate	27233747, 30914039
Cholangiocarcinoma	Associate	26517522
Colitis Ulcerative	Associate	16099792
Colorectal Neoplasms	Associate	21622897, 26440977, 36510452, 37241967
Colorectal Neoplasms	Inhibit	39940785
Congenital Abnormalities	Associate	40251671
Conversion Disorder	Associate	19336737
Coronary Artery Disease	Associate	22738689, 27805237, 28086795, 30261890
Coronary Disease	Associate	10583927, 27488401
Coronary Stenosis	Associate	11514957
COVID 19	Associate	33413422, 35415903, 35557984, 37329825
Craniopharyngioma	Associate	24934367
Crohn Disease	Associate	16099792
Dentin Sensitivity	Associate	21570717
Depressive Disorder Major	Associate	27244236
Diabetes Mellitus	Inhibit	32370146
Diabetic Nephropathies	Associate	34104098
Endometrial Neoplasms	Associate	19656390, 26384307
Endometriosis	Associate	26056923
Epileptic Syndromes	Associate	33276370
Fibroadenoma	Associate	37240386
Fibrosis	Associate	32317146
Finger Injuries	Associate	40251671
Fractures Bone	Associate	40251671
Genetic Diseases Inborn	Associate	8876221
Glioma	Associate	24289603, 33036421
Hematologic Neoplasms	Associate	34011073
Hemorrhage	Associate	19172520, 19336737, 1967954, 25734216, 29675921, 3006053, 33600779
Hermanski Pudlak Syndrome	Associate	38007062
Hyper IgM Immunodeficiency Syndrome Type 1	Stimulate	33957723
Hypercholesterolemia	Associate	12189024
Hyperglycemia	Associate	25401697, 32370146
Hypersensitivity Immediate	Associate	1602006
Hypertension	Stimulate	11304415
Hypertension	Associate	19368146
Hypomagnesemia primary	Associate	36199105
Ige Responsiveness Atopic	Associate	15817799
Intracranial Thrombosis	Associate	37175682
Leukemia	Associate	3006053
Leukemia Erythroblastic Acute	Associate	9689055
Leukemia Megakaryoblastic Acute	Associate	3165292
Leukemia Myeloid Acute	Associate	27248172
Leukemia Myeloid Acute	Inhibit	34011073
Lung Neoplasms	Associate	25066397, 27015122, 27041993, 27487131, 30563517, 36453571
Lymphangioleiomyomatosis	Associate	26167915
Lymphatic Metastasis	Associate	18200665, 25472585, 26150443
Lymphatic Metastasis	Stimulate	18395897
Lymphoma Non Hodgkin	Stimulate	17827388
Lymphoma Non Hodgkin	Associate	17827388
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	19336737, 33276370
Melanoma	Associate	15509546, 29855470, 36091936
Menorrhagia	Associate	36937472
Multiple Myeloma	Associate	34635968, 9649209
Myelodysplastic Syndromes	Associate	22271903
Myelodysplastic Syndromes	Stimulate	9359514
Myocardial Infarction	Associate	10080474, 11514957, 18035074, 27233747, 27805237, 30143348
Myocardial Ischemia	Associate	37892152
Myopathies Structural Congenital	Associate	29799301
Neoplasm Metastasis	Stimulate	18395897
Neoplasm Metastasis	Associate	24264315, 24289603, 26384307, 32844403, 35534983, 36407358
Neoplasms	Associate	15509546, 19775429, 20563533, 22174684, 24289603, 24500664, 24662823, 26158290, 26440977, 27015122, 28860622, 29284478, 30563517, 31523179, 32514015, 34011073, 34738870, 35265204, 36453571, 36965901, 37555842
Neoplasms	Stimulate	18395897
Neoplasms	Inhibit	28446539, 32894234, 37241967, 37375208
Neoplasms Cystic Mucinous and Serous	Associate	19775429
Neoplastic Syndromes Hereditary	Associate	34237177
Nervous System Diseases	Associate	28068952
Neurologic Manifestations	Associate	28068952, 32345264
Obesity	Associate	21322770
Ovarian Neoplasms	Associate	17220212, 19876733, 33723319
Pancreatic Neoplasms	Associate	19604247, 30696421, 32514015, 35534983
Paroxysmal ventricular fibrillation	Associate	27759448
Peritonitis	Stimulate	18200665
Phyllodes Tumor	Associate	37240386
Polycystic Ovary Syndrome	Associate	35551681
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Inhibit	11736936
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36944577
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	9359514
Prostatic Neoplasms	Associate	24175814, 26158290, 35265204, 35682554
Purpura Thrombocytopenic Idiopathic	Associate	39808791
Rupture	Associate	21353223
Sarcoma Kaposi	Associate	22174684
Severe Combined Immunodeficiency	Associate	27281793
Squamous Cell Carcinoma of Head and Neck	Associate	24769516
ST Elevation Myocardial Infarction	Associate	37892152
Stomach Neoplasms	Associate	18200665, 19294533, 25472585, 33299895, 37950040
Stomach Neoplasms	Stimulate	18395897
Stroke	Associate	28068952, 35557984
Takayasu Arteritis	Associate	34523592
Thrombasthenia	Associate	10233432, 11588040, 11798398, 1438206, 15748237, 1602006, 1967954, 19691478, 2014236, 23253071, 25728920, 25734216, 25827233, 26096001, 27235135, 27469266, 28948953, 29675921, 31029159, 31088191, 31565851, 32089034, 32770549, 33276370, 33496739, 33600779, 33957723, 34066320, 3548842, 36884296, 37604334, 38007062, 38294750, 40126091, 40251671, 40565512, 8317479, 8400280, 8471765, 8876221, 9160670, 9695977
Thrombocythemia Essential	Associate	19508974, 33599741
Thrombocytopenia	Associate	19197137, 19336737, 23253071, 33276370
Thrombocytopenia chromosome breakage	Associate	23253071
Thrombocytopenia Neonatal Alloimmune	Associate	11830467, 25827233, 32770549, 7519475, 8093349
Thrombophilia	Associate	26739544
Thrombosis	Associate	19197137, 33584662
Thyroid Diseases	Associate	36937472
Triple Negative Breast Neoplasms	Associate	32471192
Urinary Bladder Neoplasms	Associate	38073378
Uterine Hemorrhage	Associate	36937472
Varicose Ulcer	Associate	25329616
Varicose Veins	Associate	25329616
Vascular Diseases	Associate	11514957, 25329616
Venous Thromboembolism	Associate	26440977, 26739544
Venous Thrombosis	Associate	11514957, 26261166, 26739544