ITGB3 (integrin subunit beta 3)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (23)

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 Show/Hide all (287)

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 Show/Hide all (6)

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) Show/Hide all (182)

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
  PF00362	Integrin_beta	133 → 381	Integrin beta chain VWA domain	Domain
  PF07965	Integrin_B_tail	634 → 718	Integrin beta tail domain	Domain
  PF07974	EGF_2	593 → 624	EGF-like domain	Domain
  PF08725	Integrin_b_cyt	742 → 786	Integrin beta cytoplasmic domain	Domain
  PF17205	PSI_integrin	29 → 76	Integrin plexin domain	Domain
  PF18372	I-EGF_1	463 → 492	Integrin beta epidermal growth factor like domain 1	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 Pathway	Reactome Pathway
Virion - Herpesvirus	Platelet degranulation
Rap1 signaling pathway	Elastic fibre formation
Hormone signaling	PECAM1 interactions
Phagosome	Molecules associated with elastic fibres
Efferocytosis	Integrin cell surface interactions
PI3K-Akt signaling pathway	Syndecan interactions
Osteoclast differentiation	ECM proteoglycans
Focal adhesion	Integrin signaling
ECM-receptor interaction	GRB2:SOS provides linkage to MAPK signaling for Integrins
Platelet activation	p130Cas linkage to MAPK signaling for integrins
Neutrophil extracellular trap formation	VEGFA-VEGFR2 Pathway
Hematopoietic cell lineage	Signal transduction by L1
Regulation of actin cytoskeleton	MAP2K and MAPK activation
Cytoskeleton in muscle cells	Signaling by moderate kinase activity BRAF mutants
Thyroid hormone signaling pathway	Signaling by high-kinase activity BRAF mutants
Human cytomegalovirus infection	Signaling by BRAF and RAF fusions
Human papillomavirus infection	Paradoxical activation of RAF signaling by kinase inactive BRAF
Herpes simplex virus 1 infection	Signaling downstream of RAS mutants
Proteoglycans in cancer
MicroRNAs in cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Fluid shear stress and atherosclerosis

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 Show/Hide Causal Diseases (13)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Likely pathogenic; Pathogenic	rs1057518838, rs1057518837, rs1199275720, rs777748046	RCV000415046 RCV000414924 RCV000851903 RCV001270533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic	rs74458693	RCV005910915	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glanzmann thrombasthenia 1	Pathogenic; Likely pathogenic	rs2143097219, rs887221055, rs2143133343, rs754250394, rs121918446, rs121918450, rs121918452, rs767548512, rs79208797	RCV002254214 RCV002245360 RCV002245424 RCV002264879 RCV002243643 RCV002243644 RCV003448246 RCV002254202 RCV002254211	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant	Pathogenic	rs121918450	RCV004813040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ITGB3-related disorder	Pathogenic; Likely pathogenic	rs780384800, rs368325996	RCV004751928 RCV003393952	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic	rs1598700249	RCV000852270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Platelet-type bleeding disorder 16	Pathogenic; Likely pathogenic	rs121918444, rs121918450, rs1057518838, rs1057518837, rs746626039	RCV002243642 RCV001335177 RCV001197460 RCV001197459 RCV002245948	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prolonged bleeding time	Likely pathogenic; Pathogenic	rs1057518838, rs1057518837	RCV000415046 RCV000414924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic	rs777748046	RCV001270533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (45)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormal platelet aggregation	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	21254450	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	16721604, 16724005, 17203304	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	18065693, 18065693, 19336737, 19336737	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 16	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	35121771	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ca/Tu ALLOANTIGEN POLYMORPHISM	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	1605806	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	9445356	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	8598867	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863, 37492107	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal and neonatal alloimmune thrombocytopenia	association	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLANZMANN'S THROMBASTHENIA	—	CTD, ClinGen	21917754, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	16153930	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IMMUNOGLOBULIN E SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mo ALLOANTIGEN POLYMORPHISM	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	8598867	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	27001270, 37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	16158739	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	9445356	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBASTHENIA	—	CTD, Disgenet CTD, Disgenet	1371279, 1602006	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE	—	CTD	2257303, 7694683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (279)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	9445356		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	15840736, 17561290		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	15840736		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	25248926		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18709641		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19775429, 25066397		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	15817799, 17556058		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	7519475, 9271820, 9684730		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28318110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	9840906	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	18035074	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	10583927, 15346842	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	LHGDN	17561290		★☆☆☆☆ Found in Text Mining only
Anterior Ischemic Optic Neuropathy	Anterior Ischemic Optic Neuropathy	BEFREE	21122545		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	31323147		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	18316775		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10525125, 21353223, 30763823		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10792278	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	15817799, 19264973, 21570717, 23451109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	15817799, 17556058, 19264973, 21570717, 23451109, 24838153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	15817799, 17556058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	10525125, 21353223, 30763823		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21322770, 8876221	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21102624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21102624, 21254450, 23628433, 25280596, 27743928, 29038237, 30535103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21254450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	16721604, 16724005, 17203304, 17999363, 19588468, 21102624, 21182210		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16721604, 16724005, 17203304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	16724005, 17203304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	17203304, 17999363, 19588468, 21102624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	34462261	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	ORPHANET_DG	18065693, 19336737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	BEFREE	29380037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25066397		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	21813062		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	25370924, 40565512, 8916947	Associate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	25370924		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17679464		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	9160670		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	19336737, 20563533, 22271903, 25728920, 26096001, 26440977, 3006053, 31088191, 31356179, 3165296, 32723322, 33600779, 34066320, 35260724, 37604334, 38007062, 40251671	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	22271903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloom Syndrome	Bloom Syndrome	BEFREE	19082798		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	40251671	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	11514957	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24289603, 26689941	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24289603		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	29453194		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15970922, 16317580, 17220212, 21935711, 25106495, 25979232, 27197172, 28160858, 28855208, 28935175, 29383126, 29698974, 29728077, 30391782, 9695977		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15970922, 21935711, 22791584, 23981902, 25106495, 26167915, 29498809, 29698974, 30336071, 32894234, 39201327, 9695977	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	15817799		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	LHGDN	17515951		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	19470770	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19118033, 31684995, 37603520, 38235317	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17679464		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15756594, 25066397, 27085460, 30563517, 31501278		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33550277, 36905103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24862756	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16322334, 17220212, 19876733, 29021002, 31832016		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10195947, 15834589, 27629735, 29800236		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	11514957, 20846430, 32723322	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	10354127	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Thrombosis	Carotid Artery Thrombosis	CTD_human_DG	1605806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30763823		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	30914039		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	30914039	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	24971453	Inhibit	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36944577	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27233747, 30914039	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	12586134, 15178823, 17278970, 18057877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	15178823, 17278970, 19106083, 22207115, 24695082, 30763823, 9506596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	9445356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26517522	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	LHGDN	18814143		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29020675		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16099792	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27576787		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11299820, 18836731, 21622897, 24777809, 26440977, 30823921		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21622897, 26440977, 36510452, 37241967	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39940785	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Carotid Artery Thrombosis	Common Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	40251671	Associate	★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	29380037		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28207887		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10583927, 10961578, 11257275, 12714203, 15813672, 20138334, 25167197, 30261890, 9569182		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10583927, 10961578, 11257275, 12714203, 15813672, 16503463, 18657307, 20138334, 25167197, 26188538, 30261890, 9569182		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17337041		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22738689, 27805237, 28086795, 30261890	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	10583927, 27488401	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10463820, 10583927, 10961578, 12714203, 15813672, 16503463, 19082798, 20138334, 25167197, 30261890, 9569182		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	11514957	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	11028489, 11257275, 15166939, 17278970, 24695082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Thrombosis	Coronary Thrombosis	CTD_human_DG	8598867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Pubtator	24934367	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16099792	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21122545		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	21813062, 26739544		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22380539		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25943212		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27244236	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32370146	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24838153		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34104098	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11728949		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24979111		★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	BEFREE	30388538		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	30388538		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19656390, 26384307	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	12372469		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26056923	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31085188		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29021002		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	24487271		★☆☆☆☆ Found in Text Mining only
External Carotid Artery Thrombosis	External Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Fetal and neonatal alloimmune thrombocytopenia	Alloimmune Thrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosarcoma	Fibrosarcoma	BEFREE	31781560		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	ORPHANET_DG	19821948		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	17907177		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	LHGDN	17907177		★☆☆☆☆ Found in Text Mining only
Glanzmann thrombasthenia	Glanzmann Thrombasthenia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	UNIPROT_DG	18065693, 29380037		★☆☆☆☆ Found in Text Mining only
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	GENOMICS_ENGLAND_DG	19336737, 20020534		★☆☆☆☆ Found in Text Mining only
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glanzmann Thrombasthenia, Type A	Glanzmann Thrombasthenia	CTD_human_DG	1371279, 1602006		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26717039		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26717039		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21332719, 30240193		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24289603, 33036421	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28207887		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34011073	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	19172520, 19336737, 1967954, 25734216, 29675921, 3006053, 33600779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	LHGDN	18065693		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	12189024	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	25401697, 32370146	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	1602006	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11304415	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19368146	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19345676		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30507047		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	15774614, 29296823, 30923461		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	LHGDN	17665449, 18316775		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24487271		★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Thrombosis	Internal Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformation	Intracranial Arteriovenous Malformation	LHGDN	16385340		★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	37175682	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	26517522		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22207115, 27233747, 27629735, 30763823		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22174684, 31801855		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15863212, 28284179, 7496359		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	3006053	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27248172	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34011073	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31684995, 7539239		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	7539239		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17482311		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25066397, 27015122, 27041993, 27487131, 30563517, 36453571	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17665449		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18200665, 25472585, 26150443	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18395897	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17827388		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	18065693, 26452979, 29090484, 29380037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Glioma	Glioma	BEFREE	26717039		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	24289603		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15970922, 16317580, 17220212, 21935711, 25106495, 25979232, 27197172, 28160858, 28855208, 28935175, 29383126, 29698974, 29728077, 30391782, 9695977		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25066397, 27085460, 30563517, 31501278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16322334, 17220212, 19876733, 29021002, 31832016		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16158739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30982973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29306706, 29449539, 31836324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17679464		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16322334, 17679464, 22174684, 24662823, 24675390, 26440977, 27085460, 28604748, 29698974, 29776956, 30240193, 30391782, 31066035, 31501278, 31801855		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27576787		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12874388, 14517343, 15609125, 16317580, 16790523, 17175151, 17203213, 17550972		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30391782		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12198771, 12209993, 15509546, 15998788, 16969099		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15509546, 29855470, 36091936	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29855470, 30240193, 30627776, 8806594		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25943212		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	23860687		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30240193		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12161360		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34635968, 9649209	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22271903, 31003999		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22271903	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	9359514	Stimulate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15370216, 27040932		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	10080474, 11514957, 18035074, 27233747, 27805237, 30143348	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	10329065, 10531147, 11028489, 11812069, 18657307, 19106083, 23990179, 27805237, 29024385, 29643704, 30143348, 9241754, 9569182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12855229, 15978110, 17561290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	8598867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	37892152	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	LHGDN	12036875		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	ORPHANET_DG	19821948		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	22211425, 28370162, 30488955, 7519475, 9116286, 9271820		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	CTD_human_DG	2257303, 7694683		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18709641, 22174684, 24322659, 26115412, 26440977, 26717039, 28744026, 28935175, 29151962, 29776956, 30224639, 30662566		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28068952	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24884715, 29776956, 31521695, 31555508		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21322770	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	LHGDN	17907177		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	16035619		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16322334, 17220212, 19876733, 29021002, 31832016		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16322334, 17220212, 18854176		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17220212, 19876733, 33723319	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	29713834		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19604247, 30696421, 32514015, 35534983	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29729708		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	18200665	Stimulate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21102624		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30599813		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35551681	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	15166939		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30982973		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12168086, 12771130, 14524530, 17034033, 17369840, 18512729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16158739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24175814, 26158290, 35265204, 35682554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31249375		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	31127093		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28784104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	22174684	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	23860687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23860687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	23159943		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	29143464		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31135705		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	27281793	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	30630213		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	22855155		★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24769516		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24769516	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29306706, 29449539, 31836324		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18200665, 19294533, 25472585, 33299895, 37950040	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18395897	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28068952, 35557984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	15331787, 19345676		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	LHGDN	15331787		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	BEFREE	26858344		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23159943		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	LHGDN	16636497		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	24443232		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	10233432, 10845892, 12008952, 12707732, 1438206, 15748237, 18930954, 1967954, 19691478, 20020534, 2014236, 21557682, 22102273, 22190468, 24236036, 25373348, 25728920, 25806962, 27235135, 27469266, 28948953, 29084015, 29385657, 29985398, 31010659, 31088191, 31565851, 7543974, 8095357, 9160670, 9226167, 9493569, 9845537		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	UNIPROT_DG	10233432, 11588040, 11897046, 12083483, 12353082, 1371279, 1438206, 15583747, 15634267, 15748237, 1602006, 20020534, 2392682, 29084015, 8781422, 9215749, 9376589, 9684783, 9790984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	LHGDN	11897046, 12152649, 12609844, 12871468, 14629479, 15590407, 15634267, 15748237, 15886806, 16879215, 18064323, 18791937, 18832906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CTD_human_DG	1371279, 1602006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CLINGEN_DG	15972454, 16463284, 20020534, 2014236, 24236036, 6213621, 6460044, 9845537, 9916135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	GENOMICS_ENGLAND_DG	19336737, 20020534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	ORPHANET_DG	21917754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	19508974, 33599741	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	15166939, 17952438		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	19197137, 19336737, 23253071, 33276370	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	BEFREE	23253071		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	11830467, 25827233, 32770549, 7519475, 8093349	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	24695082		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	26739544	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	19197137, 33584662	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	36937472	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25858145		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32471192	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38073378	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	25329616	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	25329616		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	11514957, 25329616	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26440977, 26739544	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	11514957, 26261166, 26739544	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	23324327		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ITGA2B 9 shared diseasesThrombocytopenia, Macrothrombocytopenia, Platelet-type bleeding disorder, Carotid artery thrombosis, Cerebral hemorrhage, Cerebrovascular disorder, Glanzmann thrombasthenia, Thrombasthenia, platelet-type bleeding disorder 16 25 shared pathwaysRap1 signaling pathway, Focal adhesion, ECM-receptor interaction, Platelet activation, Neutrophil extracellular trap formation, Hematopoietic cell lineage, Regulation of actin cytoskeleton, Cytoskeleton in muscle cells, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Fluid shear stress and atherosclerosis +13 more 25 shared evidence sourcesOrphanet (Macrothrombocytopenia), Disgenet (Macrothrombocytopenia), Disgenet (Platelet-type bleeding disorder), HPO (Platelet-type bleeding disorder), ClinVar (Platelet-type bleeding disorder), ClinGen (Platelet-type bleeding disorder), GWAS catalog (Platelet-type bleeding disorder), CTD (Carotid artery thrombosis), Disgenet (Carotid artery thrombosis), CTD (Cerebral hemorrhage), Disgenet (Cerebrovascular disorder), ClinGen (Glanzmann thrombasthenia) +13 more Related via 25 shared pathways including Rap1 signaling pathway, Focal adhesion — evidence mostly Disgenet. ITGAV 2 shared diseasesCerebral hemorrhage, Cerebrovascular disorder 22 shared pathwaysHormone signaling, Phagosome, Efferocytosis, Focal adhesion, ECM-receptor interaction, Regulation of actin cytoskeleton, Cytoskeleton in muscle cells, Thyroid hormone signaling pathway, Human cytomegalovirus infection, Proteoglycans in cancer, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy +10 more 3 shared evidence sourcesCTD (Cerebral hemorrhage), Disgenet (Cerebrovascular disorder), CTD (Stroke) Related via 22 shared pathways including Hormone signaling, Phagosome — evidence mostly CTD. P2RY12 5 shared diseasesThrombocytopenia, Platelet-type bleeding disorder, Cerebrovascular disorder, Diverticular disease, Hemorrhage 2 shared pathwaysEfferocytosis, Platelet activation 11 shared evidence sourcesDisgenet (Asthma), Disgenet (Platelet-type bleeding disorder), HPO (Platelet-type bleeding disorder), ClinVar (Platelet-type bleeding disorder), ClinGen (Platelet-type bleeding disorder), Disgenet (Cerebrovascular disorder), GWAS catalog (Diverticular disease), CTD (Hemorrhage), CTD (Myocardial infarction), Disgenet (Myocardial infarction), Disgenet (Thrombocytopenia) Related via 5 shared diseases including Thrombocytopenia, Platelet-type bleeding disorder — evidence mostly Disgenet. ITGA2 4 shared diseasesThrombocytopenia, Platelet-type bleeding disorder, Bone fracture, Thrombasthenia 14 shared pathwaysPhagosome, Focal adhesion, ECM-receptor interaction, Platelet activation, Hematopoietic cell lineage, Regulation of actin cytoskeleton, Cytoskeleton in muscle cells, Proteoglycans in cancer, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Integrin cell surface interactions +2 more 5 shared evidence sourcesGWAS catalog (Platelet-type bleeding disorder), GWAS catalog (Bone fracture), Disgenet (Myocardial infarction), Disgenet (Thrombasthenia), Disgenet (Thrombocytopenia) Related via 14 shared pathways including Phagosome, Focal adhesion — evidence mostly Disgenet. GP6 4 shared diseasesThrombocytopenia, Platelet-type bleeding disorder, Platelet disorder, Coronary thrombosis 2 shared pathwaysECM-receptor interaction, Platelet activation 8 shared evidence sourcesHPO (Platelet-type bleeding disorder), ClinVar (Platelet-type bleeding disorder), ClinGen (Platelet-type bleeding disorder), GWAS catalog (Platelet-type bleeding disorder), Disgenet (Platelet disorder), Disgenet (Coronary thrombosis), Disgenet (Myocardial infarction), Disgenet (Thrombocytopenia) Related via 4 shared diseases including Thrombocytopenia, Platelet-type bleeding disorder — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ITGA2B	9	["Thrombocytopenia","Macrothrombocytopenia","Platelet-type bleeding disorder","Carotid artery thrombosis","Cerebral hemorrhage","Cerebrovascular disorder","Glanzmann thrombasthenia","Thrombasthenia","platelet-type bleeding disorder 16"]	25	["Rap1 signaling pathway","Focal adhesion","ECM-receptor interaction","Platelet activation","Neutrophil extracellular trap formation","Hematopoietic cell lineage","Regulation of actin cytoskeleton","Cytoskeleton in muscle cells","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Fluid shear stress and atherosclerosis"]	25	["Orphanet (Macrothrombocytopenia)","Disgenet (Macrothrombocytopenia)","Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","GWAS catalog (Platelet-type bleeding disorder)","CTD (Carotid artery thrombosis)","Disgenet (Carotid artery thrombosis)","CTD (Cerebral hemorrhage)","Disgenet (Cerebrovascular disorder)","ClinGen (Glanzmann thrombasthenia)"]
ITGAV	2	["Cerebral hemorrhage","Cerebrovascular disorder"]	22	["Hormone signaling","Phagosome","Efferocytosis","Focal adhesion","ECM-receptor interaction","Regulation of actin cytoskeleton","Cytoskeleton in muscle cells","Thyroid hormone signaling pathway","Human cytomegalovirus infection","Proteoglycans in cancer","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy"]	3	["CTD (Cerebral hemorrhage)","Disgenet (Cerebrovascular disorder)","CTD (Stroke)"]
P2RY12	5	["Thrombocytopenia","Platelet-type bleeding disorder","Cerebrovascular disorder","Diverticular disease","Hemorrhage"]	2	["Efferocytosis","Platelet activation"]	11	["Disgenet (Asthma)","Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","Disgenet (Cerebrovascular disorder)","GWAS catalog (Diverticular disease)","CTD (Hemorrhage)","CTD (Myocardial infarction)","Disgenet (Myocardial infarction)","Disgenet (Thrombocytopenia)"]
ITGA2	4	["Thrombocytopenia","Platelet-type bleeding disorder","Bone fracture","Thrombasthenia"]	14	["Phagosome","Focal adhesion","ECM-receptor interaction","Platelet activation","Hematopoietic cell lineage","Regulation of actin cytoskeleton","Cytoskeleton in muscle cells","Proteoglycans in cancer","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Integrin cell surface interactions"]	5	["GWAS catalog (Platelet-type bleeding disorder)","GWAS catalog (Bone fracture)","Disgenet (Myocardial infarction)","Disgenet (Thrombasthenia)","Disgenet (Thrombocytopenia)"]
GP6	4	["Thrombocytopenia","Platelet-type bleeding disorder","Platelet disorder","Coronary thrombosis"]	2	["ECM-receptor interaction","Platelet activation"]	8	["HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","GWAS catalog (Platelet-type bleeding disorder)","Disgenet (Platelet disorder)","Disgenet (Coronary thrombosis)","Disgenet (Myocardial infarction)","Disgenet (Thrombocytopenia)"]

Diseases Linked via Similar Genes

Von willebrand disorder Linked via 4 of 5 related genesITGA2B, P2RY12, ITGA2, GP6 Diabetes mellitus type 2 Linked via 3 of 5 related genesP2RY12, ITGA2, GP6 Juvenile arthritis Linked via 1 of 5 related genesITGA2B Juvenile idiopathic arthritis Linked via 1 of 5 related genesITGA2B Parkinson disease Linked via 1 of 5 related genesITGA2B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Von willebrand disorder	4	["ITGA2B","P2RY12","ITGA2","GP6"]
Diabetes mellitus type 2	3	["P2RY12","ITGA2","GP6"]
Juvenile arthritis	1	["ITGA2B"]
Juvenile idiopathic arthritis	1	["ITGA2B"]
Parkinson disease	1	["ITGA2B"]