SH3PXD2B (SH3 and PX domains 2B)

Gene

• Entrez ID: 285590
• Gene name: SH3 and PX domains 2B
• Gene symbol: SH3PXD2B
• Synonyms (NCBI Gene): FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
• Chromosome: 5
• Chromosome location: 5q35.1
• Summary: This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755907	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs140209484	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs143850475	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs144228973	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs148050566	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs149519060	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186443822	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267607046	G>A	Pathogenic	Missense variant, coding sequence variant
rs367543284	C>T	Pathogenic	Splice donor variant
rs369555721	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775217258	T>G	Pathogenic	Splice acceptor variant
rs780292269	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs794728005	->A	Pathogenic	Coding sequence variant, stop gained
rs794728006	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs886042037	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018269	hsa-miR-335-5p	Microarray	18185580
MIRT001847	hsa-miR-1-3p	Microarray	18668037
MIRT001847	hsa-miR-1-3p	Microarray	15685193
MIRT495195	hsa-miR-6758-5p	PAR-CLIP	23708386
MIRT495193	hsa-miR-6856-5p	PAR-CLIP	23708386
MIRT495194	hsa-miR-1972	PAR-CLIP	23708386
MIRT495192	hsa-miR-4645-5p	PAR-CLIP	23708386
MIRT495191	hsa-miR-4673	PAR-CLIP	23708386
MIRT495190	hsa-miR-4691-5p	PAR-CLIP	23708386
MIRT495189	hsa-miR-6792-3p	PAR-CLIP	23708386
MIRT495188	hsa-miR-6749-3p	PAR-CLIP	23708386
MIRT495195	hsa-miR-6758-5p	PAR-CLIP	23708386
MIRT495193	hsa-miR-6856-5p	PAR-CLIP	23708386
MIRT495194	hsa-miR-1972	PAR-CLIP	23708386
MIRT495192	hsa-miR-4645-5p	PAR-CLIP	23708386
MIRT495191	hsa-miR-4673	PAR-CLIP	23708386
MIRT495190	hsa-miR-4691-5p	PAR-CLIP	23708386
MIRT495189	hsa-miR-6792-3p	PAR-CLIP	23708386
MIRT495188	hsa-miR-6749-3p	PAR-CLIP	23708386
MIRT1345501	hsa-miR-1185	CLIP-seq
MIRT1345502	hsa-miR-1205	CLIP-seq
MIRT1345503	hsa-miR-1225-5p	CLIP-seq
MIRT1345504	hsa-miR-1243	CLIP-seq
MIRT1345505	hsa-miR-1269	CLIP-seq
MIRT1345506	hsa-miR-1269b	CLIP-seq
MIRT1345507	hsa-miR-1271	CLIP-seq
MIRT1345508	hsa-miR-1276	CLIP-seq
MIRT1345509	hsa-miR-1286	CLIP-seq
MIRT1345510	hsa-miR-1288	CLIP-seq
MIRT1345511	hsa-miR-151-5p	CLIP-seq
MIRT1345512	hsa-miR-151b	CLIP-seq
MIRT1345513	hsa-miR-182	CLIP-seq
MIRT1345514	hsa-miR-2110	CLIP-seq
MIRT1345515	hsa-miR-216a	CLIP-seq
MIRT1345516	hsa-miR-2467-5p	CLIP-seq
MIRT1345517	hsa-miR-2681	CLIP-seq
MIRT1345518	hsa-miR-2861	CLIP-seq
MIRT1345519	hsa-miR-3125	CLIP-seq
MIRT1345520	hsa-miR-3131	CLIP-seq
MIRT1345521	hsa-miR-3135	CLIP-seq
MIRT1345522	hsa-miR-3150a-3p	CLIP-seq
MIRT1345523	hsa-miR-3169	CLIP-seq
MIRT1345524	hsa-miR-3179	CLIP-seq
MIRT1345525	hsa-miR-3188	CLIP-seq
MIRT1345526	hsa-miR-3202	CLIP-seq
MIRT1345527	hsa-miR-342-3p	CLIP-seq
MIRT1345528	hsa-miR-3529	CLIP-seq
MIRT1345529	hsa-miR-3654	CLIP-seq
MIRT1345530	hsa-miR-3665	CLIP-seq
MIRT1345531	hsa-miR-3679-5p	CLIP-seq
MIRT1345532	hsa-miR-3689a-3p	CLIP-seq
MIRT1345533	hsa-miR-3689c	CLIP-seq
MIRT1345534	hsa-miR-3714	CLIP-seq
MIRT1345535	hsa-miR-379	CLIP-seq
MIRT1345536	hsa-miR-3916	CLIP-seq
MIRT1345537	hsa-miR-3927	CLIP-seq
MIRT1345538	hsa-miR-3940-5p	CLIP-seq
MIRT1345539	hsa-miR-3975	CLIP-seq
MIRT1345540	hsa-miR-4260	CLIP-seq
MIRT1345541	hsa-miR-4271	CLIP-seq
MIRT1345542	hsa-miR-4318	CLIP-seq
MIRT1345543	hsa-miR-4418	CLIP-seq
MIRT1345544	hsa-miR-4426	CLIP-seq
MIRT1345545	hsa-miR-4507	CLIP-seq
MIRT1345546	hsa-miR-4515	CLIP-seq
MIRT1345547	hsa-miR-4533	CLIP-seq
MIRT1345548	hsa-miR-4647	CLIP-seq
MIRT1345549	hsa-miR-4649-3p	CLIP-seq
MIRT1345550	hsa-miR-4662b	CLIP-seq
MIRT1345551	hsa-miR-4681	CLIP-seq
MIRT1345552	hsa-miR-4722-5p	CLIP-seq
MIRT1345553	hsa-miR-4725-3p	CLIP-seq
MIRT1345554	hsa-miR-4727-5p	CLIP-seq
MIRT1345555	hsa-miR-4731-5p	CLIP-seq
MIRT1345556	hsa-miR-4733-3p	CLIP-seq
MIRT1345557	hsa-miR-4740-5p	CLIP-seq
MIRT1345558	hsa-miR-4747-5p	CLIP-seq
MIRT1345559	hsa-miR-4762-5p	CLIP-seq
MIRT1345560	hsa-miR-485-5p	CLIP-seq
MIRT1345561	hsa-miR-490-5p	CLIP-seq
MIRT1345562	hsa-miR-505	CLIP-seq
MIRT1345563	hsa-miR-509-3-5p	CLIP-seq
MIRT1345564	hsa-miR-509-5p	CLIP-seq
MIRT1345565	hsa-miR-544	CLIP-seq
MIRT1345566	hsa-miR-544b	CLIP-seq
MIRT1345567	hsa-miR-548p	CLIP-seq
MIRT1345568	hsa-miR-592	CLIP-seq
MIRT1345569	hsa-miR-597	CLIP-seq
MIRT1345570	hsa-miR-611	CLIP-seq
MIRT1345571	hsa-miR-657	CLIP-seq
MIRT1345572	hsa-miR-671-3p	CLIP-seq
MIRT1345573	hsa-miR-760	CLIP-seq
MIRT1345574	hsa-miR-877	CLIP-seq
MIRT1345575	hsa-miR-890	CLIP-seq
MIRT1345576	hsa-miR-940	CLIP-seq
MIRT1345577	hsa-miR-96	CLIP-seq
MIRT1553669	hsa-miR-1207-5p	CLIP-seq
MIRT1553670	hsa-miR-4763-3p	CLIP-seq
MIRT1922363	hsa-miR-28-5p	CLIP-seq
MIRT1922364	hsa-miR-29a	CLIP-seq
MIRT1922365	hsa-miR-29b	CLIP-seq
MIRT1922366	hsa-miR-29c	CLIP-seq
MIRT1922367	hsa-miR-3139	CLIP-seq
MIRT1922368	hsa-miR-3150b-3p	CLIP-seq
MIRT1922369	hsa-miR-4689	CLIP-seq
MIRT1922370	hsa-miR-4784	CLIP-seq
MIRT1922371	hsa-miR-494	CLIP-seq
MIRT1922372	hsa-miR-708	CLIP-seq
MIRT1922373	hsa-miR-765	CLIP-seq
MIRT2102157	hsa-let-7a	CLIP-seq
MIRT2102158	hsa-let-7b	CLIP-seq
MIRT2102159	hsa-let-7c	CLIP-seq
MIRT2102160	hsa-let-7d	CLIP-seq
MIRT2102161	hsa-let-7e	CLIP-seq
MIRT2102162	hsa-let-7f	CLIP-seq
MIRT2102163	hsa-let-7g	CLIP-seq
MIRT2102164	hsa-let-7i	CLIP-seq
MIRT2102165	hsa-miR-101	CLIP-seq
MIRT2102166	hsa-miR-1184	CLIP-seq
MIRT1345502	hsa-miR-1205	CLIP-seq
MIRT2102167	hsa-miR-1246	CLIP-seq
MIRT2102168	hsa-miR-1252	CLIP-seq
MIRT2102169	hsa-miR-1258	CLIP-seq
MIRT2102170	hsa-miR-128	CLIP-seq
MIRT2102171	hsa-miR-1285	CLIP-seq
MIRT2102172	hsa-miR-1294	CLIP-seq
MIRT2102173	hsa-miR-1321	CLIP-seq
MIRT2102174	hsa-miR-133a	CLIP-seq
MIRT2102175	hsa-miR-133b	CLIP-seq
MIRT2102176	hsa-miR-1343	CLIP-seq
MIRT2102177	hsa-miR-1825	CLIP-seq
MIRT2102178	hsa-miR-18a	CLIP-seq
MIRT2102179	hsa-miR-18b	CLIP-seq
MIRT2102180	hsa-miR-199a-5p	CLIP-seq
MIRT2102181	hsa-miR-199b-5p	CLIP-seq
MIRT2102182	hsa-miR-202	CLIP-seq
MIRT1345514	hsa-miR-2110	CLIP-seq
MIRT2102183	hsa-miR-224	CLIP-seq
MIRT1345516	hsa-miR-2467-5p	CLIP-seq
MIRT2102184	hsa-miR-27a	CLIP-seq
MIRT2102185	hsa-miR-27b	CLIP-seq
MIRT1922363	hsa-miR-28-5p	CLIP-seq
MIRT1345518	hsa-miR-2861	CLIP-seq
MIRT2102186	hsa-miR-31	CLIP-seq
MIRT2102187	hsa-miR-3127-5p	CLIP-seq
MIRT1922367	hsa-miR-3139	CLIP-seq
MIRT1345522	hsa-miR-3150a-3p	CLIP-seq
MIRT2102188	hsa-miR-3158-5p	CLIP-seq
MIRT2102189	hsa-miR-3173-3p	CLIP-seq
MIRT2102190	hsa-miR-3173-5p	CLIP-seq
MIRT2102191	hsa-miR-3187-5p	CLIP-seq
MIRT1345525	hsa-miR-3188	CLIP-seq
MIRT2102192	hsa-miR-3194-3p	CLIP-seq
MIRT2102193	hsa-miR-346	CLIP-seq
MIRT2102194	hsa-miR-3618	CLIP-seq
MIRT2102195	hsa-miR-3652	CLIP-seq
MIRT2102196	hsa-miR-3907	CLIP-seq
MIRT2102197	hsa-miR-3918	CLIP-seq
MIRT2102198	hsa-miR-3925-3p	CLIP-seq
MIRT2102199	hsa-miR-3938	CLIP-seq
MIRT1345539	hsa-miR-3975	CLIP-seq
MIRT2102200	hsa-miR-4257	CLIP-seq
MIRT1345540	hsa-miR-4260	CLIP-seq
MIRT2102201	hsa-miR-4266	CLIP-seq
MIRT1345541	hsa-miR-4271	CLIP-seq
MIRT2102202	hsa-miR-4288	CLIP-seq
MIRT2102203	hsa-miR-4300	CLIP-seq
MIRT2102204	hsa-miR-4419a	CLIP-seq
MIRT2102205	hsa-miR-4430	CLIP-seq
MIRT2102206	hsa-miR-4446-3p	CLIP-seq
MIRT2102207	hsa-miR-4455	CLIP-seq
MIRT2102208	hsa-miR-4458	CLIP-seq
MIRT2102209	hsa-miR-4468	CLIP-seq
MIRT2102210	hsa-miR-4470	CLIP-seq
MIRT2102211	hsa-miR-4487	CLIP-seq
MIRT2102212	hsa-miR-4492	CLIP-seq
MIRT2102213	hsa-miR-4498	CLIP-seq
MIRT2102214	hsa-miR-4500	CLIP-seq
MIRT2102215	hsa-miR-4508	CLIP-seq
MIRT2102216	hsa-miR-4510	CLIP-seq
MIRT2102217	hsa-miR-4527	CLIP-seq
MIRT2102218	hsa-miR-4534	CLIP-seq
MIRT2102219	hsa-miR-455-3p	CLIP-seq
MIRT2102220	hsa-miR-4648	CLIP-seq
MIRT1345549	hsa-miR-4649-3p	CLIP-seq
MIRT2102221	hsa-miR-4650-5p	CLIP-seq
MIRT2102222	hsa-miR-4654	CLIP-seq
MIRT2102223	hsa-miR-4710	CLIP-seq
MIRT1345553	hsa-miR-4725-3p	CLIP-seq
MIRT2102224	hsa-miR-4728-5p	CLIP-seq
MIRT2102225	hsa-miR-4731-3p	CLIP-seq
MIRT2102226	hsa-miR-4735-3p	CLIP-seq
MIRT2102227	hsa-miR-4739	CLIP-seq
MIRT2102228	hsa-miR-4742-5p	CLIP-seq
MIRT2102229	hsa-miR-4756-5p	CLIP-seq
MIRT2102230	hsa-miR-4764-5p	CLIP-seq
MIRT2102231	hsa-miR-4769-5p	CLIP-seq
MIRT2102232	hsa-miR-4792	CLIP-seq
MIRT2102233	hsa-miR-4801	CLIP-seq
MIRT2102234	hsa-miR-483-3p	CLIP-seq
MIRT1345560	hsa-miR-485-5p	CLIP-seq
MIRT2102235	hsa-miR-488	CLIP-seq
MIRT1345566	hsa-miR-544b	CLIP-seq
MIRT2102236	hsa-miR-609	CLIP-seq
MIRT2102237	hsa-miR-612	CLIP-seq
MIRT2102238	hsa-miR-632	CLIP-seq
MIRT2102239	hsa-miR-654-3p	CLIP-seq
MIRT2102240	hsa-miR-670	CLIP-seq
MIRT1922372	hsa-miR-708	CLIP-seq
MIRT2102241	hsa-miR-744	CLIP-seq
MIRT2102242	hsa-miR-762	CLIP-seq
MIRT2102243	hsa-miR-766	CLIP-seq
MIRT2102244	hsa-miR-9	CLIP-seq
MIRT2102245	hsa-miR-920	CLIP-seq
MIRT2102246	hsa-miR-98	CLIP-seq
MIRT2326741	hsa-miR-103b	CLIP-seq
MIRT2326742	hsa-miR-1229	CLIP-seq
MIRT2326743	hsa-miR-1270	CLIP-seq
MIRT2102170	hsa-miR-128	CLIP-seq
MIRT2102184	hsa-miR-27a	CLIP-seq
MIRT2102185	hsa-miR-27b	CLIP-seq
MIRT2326744	hsa-miR-298	CLIP-seq
MIRT2326745	hsa-miR-3132	CLIP-seq
MIRT1345526	hsa-miR-3202	CLIP-seq
MIRT2326746	hsa-miR-3662	CLIP-seq
MIRT2326747	hsa-miR-3675-5p	CLIP-seq
MIRT2326748	hsa-miR-3690	CLIP-seq
MIRT2102196	hsa-miR-3907	CLIP-seq
MIRT2326749	hsa-miR-3978	CLIP-seq
MIRT2326750	hsa-miR-4254	CLIP-seq
MIRT2102211	hsa-miR-4487	CLIP-seq
MIRT2326751	hsa-miR-4496	CLIP-seq
MIRT2102219	hsa-miR-455-3p	CLIP-seq
MIRT2326752	hsa-miR-4650-3p	CLIP-seq
MIRT2326753	hsa-miR-4659a-5p	CLIP-seq
MIRT2326754	hsa-miR-4659b-5p	CLIP-seq
MIRT2102224	hsa-miR-4728-5p	CLIP-seq
MIRT2326755	hsa-miR-4769-3p	CLIP-seq
MIRT1345561	hsa-miR-490-5p	CLIP-seq
MIRT2326756	hsa-miR-548a-3p	CLIP-seq
MIRT2326757	hsa-miR-548e	CLIP-seq
MIRT2326758	hsa-miR-548f	CLIP-seq
MIRT2326759	hsa-miR-620	CLIP-seq
MIRT2326760	hsa-miR-652	CLIP-seq
MIRT1345575	hsa-miR-890	CLIP-seq
MIRT1345534	hsa-miR-3714	CLIP-seq
MIRT1345541	hsa-miR-4271	CLIP-seq
MIRT2102218	hsa-miR-4534	CLIP-seq
MIRT1345553	hsa-miR-4725-3p	CLIP-seq
MIRT2394400	hsa-miR-671-5p	CLIP-seq
MIRT1345576	hsa-miR-940	CLIP-seq
MIRT2102169	hsa-miR-1258	CLIP-seq
MIRT2102174	hsa-miR-133a	CLIP-seq
MIRT2102175	hsa-miR-133b	CLIP-seq
MIRT2442620	hsa-miR-24	CLIP-seq
MIRT2442621	hsa-miR-3155	CLIP-seq
MIRT2442622	hsa-miR-3155b	CLIP-seq
MIRT2442623	hsa-miR-4284	CLIP-seq
MIRT2442624	hsa-miR-4462	CLIP-seq
MIRT2102217	hsa-miR-4527	CLIP-seq
MIRT2442625	hsa-miR-4643	CLIP-seq
MIRT2442626	hsa-miR-4687-3p	CLIP-seq
MIRT2442627	hsa-miR-4717-3p	CLIP-seq
MIRT2442628	hsa-miR-484	CLIP-seq
MIRT2102244	hsa-miR-9	CLIP-seq
MIRT2102157	hsa-let-7a	CLIP-seq
MIRT2102158	hsa-let-7b	CLIP-seq
MIRT2102159	hsa-let-7c	CLIP-seq
MIRT2102160	hsa-let-7d	CLIP-seq
MIRT2102161	hsa-let-7e	CLIP-seq
MIRT2102162	hsa-let-7f	CLIP-seq
MIRT2102163	hsa-let-7g	CLIP-seq
MIRT2102164	hsa-let-7i	CLIP-seq
MIRT2102166	hsa-miR-1184	CLIP-seq
MIRT1345502	hsa-miR-1205	CLIP-seq
MIRT2102167	hsa-miR-1246	CLIP-seq
MIRT2102168	hsa-miR-1252	CLIP-seq
MIRT2622207	hsa-miR-1254	CLIP-seq
MIRT2102169	hsa-miR-1258	CLIP-seq
MIRT2622208	hsa-miR-1266	CLIP-seq
MIRT2622209	hsa-miR-1275	CLIP-seq
MIRT2102170	hsa-miR-128	CLIP-seq
MIRT2102171	hsa-miR-1285	CLIP-seq
MIRT2102172	hsa-miR-1294	CLIP-seq
MIRT2622210	hsa-miR-1296	CLIP-seq
MIRT2622211	hsa-miR-1301	CLIP-seq
MIRT2102174	hsa-miR-133a	CLIP-seq
MIRT2102175	hsa-miR-133b	CLIP-seq
MIRT2622212	hsa-miR-151-3p	CLIP-seq
MIRT2102178	hsa-miR-18a	CLIP-seq
MIRT2102179	hsa-miR-18b	CLIP-seq
MIRT2102182	hsa-miR-202	CLIP-seq
MIRT2622213	hsa-miR-2116	CLIP-seq
MIRT2442620	hsa-miR-24	CLIP-seq
MIRT2102184	hsa-miR-27a	CLIP-seq
MIRT2102185	hsa-miR-27b	CLIP-seq
MIRT1922363	hsa-miR-28-5p	CLIP-seq
MIRT1345518	hsa-miR-2861	CLIP-seq
MIRT2622214	hsa-miR-2909	CLIP-seq
MIRT2622215	hsa-miR-2964a-5p	CLIP-seq
MIRT2326744	hsa-miR-298	CLIP-seq
MIRT1922364	hsa-miR-29a	CLIP-seq
MIRT1922365	hsa-miR-29b	CLIP-seq
MIRT1922366	hsa-miR-29c	CLIP-seq
MIRT2622216	hsa-miR-3065-3p	CLIP-seq
MIRT2622217	hsa-miR-3065-5p	CLIP-seq
MIRT2622218	hsa-miR-3116	CLIP-seq
MIRT2622219	hsa-miR-3130-3p	CLIP-seq
MIRT2622220	hsa-miR-3133	CLIP-seq
MIRT2622221	hsa-miR-3137	CLIP-seq
MIRT1922367	hsa-miR-3139	CLIP-seq
MIRT1922368	hsa-miR-3150b-3p	CLIP-seq
MIRT2622222	hsa-miR-3153	CLIP-seq
MIRT2442621	hsa-miR-3155	CLIP-seq
MIRT2442622	hsa-miR-3155b	CLIP-seq
MIRT2102188	hsa-miR-3158-5p	CLIP-seq
MIRT1345523	hsa-miR-3169	CLIP-seq
MIRT2102189	hsa-miR-3173-3p	CLIP-seq
MIRT2102190	hsa-miR-3173-5p	CLIP-seq
MIRT2622223	hsa-miR-3178	CLIP-seq
MIRT2102191	hsa-miR-3187-5p	CLIP-seq
MIRT2622224	hsa-miR-3189-3p	CLIP-seq
MIRT2102192	hsa-miR-3194-3p	CLIP-seq
MIRT2622225	hsa-miR-323-5p	CLIP-seq
MIRT2622226	hsa-miR-335	CLIP-seq
MIRT2102193	hsa-miR-346	CLIP-seq
MIRT2622227	hsa-miR-3607-5p	CLIP-seq
MIRT2622228	hsa-miR-361-3p	CLIP-seq
MIRT2622229	hsa-miR-3617	CLIP-seq
MIRT2102194	hsa-miR-3618	CLIP-seq
MIRT2622230	hsa-miR-3679-3p	CLIP-seq
MIRT2326748	hsa-miR-3690	CLIP-seq
MIRT2622231	hsa-miR-375	CLIP-seq
MIRT2102196	hsa-miR-3907	CLIP-seq
MIRT2326749	hsa-miR-3978	CLIP-seq
MIRT2102201	hsa-miR-4266	CLIP-seq
MIRT2622232	hsa-miR-4267	CLIP-seq
MIRT2622233	hsa-miR-4273	CLIP-seq
MIRT2442623	hsa-miR-4284	CLIP-seq
MIRT2102202	hsa-miR-4288	CLIP-seq
MIRT2622234	hsa-miR-4307	CLIP-seq
MIRT2622235	hsa-miR-4311	CLIP-seq
MIRT1345542	hsa-miR-4318	CLIP-seq
MIRT2622236	hsa-miR-4432	CLIP-seq
MIRT2102208	hsa-miR-4458	CLIP-seq
MIRT2442624	hsa-miR-4462	CLIP-seq
MIRT2102209	hsa-miR-4468	CLIP-seq
MIRT2102210	hsa-miR-4470	CLIP-seq
MIRT2622237	hsa-miR-4476	CLIP-seq
MIRT2102211	hsa-miR-4487	CLIP-seq
MIRT2622238	hsa-miR-4490	CLIP-seq
MIRT2102214	hsa-miR-4500	CLIP-seq
MIRT2622239	hsa-miR-4512	CLIP-seq
MIRT2622240	hsa-miR-4518	CLIP-seq
MIRT2622241	hsa-miR-4525	CLIP-seq
MIRT2102217	hsa-miR-4527	CLIP-seq
MIRT1345547	hsa-miR-4533	CLIP-seq
MIRT2102219	hsa-miR-455-3p	CLIP-seq
MIRT2622242	hsa-miR-4638-3p	CLIP-seq
MIRT2442625	hsa-miR-4643	CLIP-seq
MIRT2102221	hsa-miR-4650-5p	CLIP-seq
MIRT2622243	hsa-miR-4660	CLIP-seq
MIRT2622244	hsa-miR-4665-5p	CLIP-seq
MIRT2622245	hsa-miR-4677-5p	CLIP-seq
MIRT2442626	hsa-miR-4687-3p	CLIP-seq
MIRT1922369	hsa-miR-4689	CLIP-seq
MIRT2622246	hsa-miR-4690-5p	CLIP-seq
MIRT2622247	hsa-miR-4691-3p	CLIP-seq
MIRT2102223	hsa-miR-4710	CLIP-seq
MIRT2622248	hsa-miR-4715-3p	CLIP-seq
MIRT2442627	hsa-miR-4717-3p	CLIP-seq
MIRT2622249	hsa-miR-4720-3p	CLIP-seq
MIRT2622250	hsa-miR-4723-5p	CLIP-seq
MIRT2102225	hsa-miR-4731-3p	CLIP-seq
MIRT2102226	hsa-miR-4735-3p	CLIP-seq
MIRT2102228	hsa-miR-4742-5p	CLIP-seq
MIRT2622251	hsa-miR-4757-5p	CLIP-seq
MIRT2102230	hsa-miR-4764-5p	CLIP-seq
MIRT1922370	hsa-miR-4784	CLIP-seq
MIRT2622252	hsa-miR-4787-5p	CLIP-seq
MIRT2102232	hsa-miR-4792	CLIP-seq
MIRT2102233	hsa-miR-4801	CLIP-seq
MIRT2442628	hsa-miR-484	CLIP-seq
MIRT2622253	hsa-miR-486-3p	CLIP-seq
MIRT2102235	hsa-miR-488	CLIP-seq
MIRT1922371	hsa-miR-494	CLIP-seq
MIRT2622254	hsa-miR-495	CLIP-seq
MIRT2622255	hsa-miR-499-5p	CLIP-seq
MIRT2622256	hsa-miR-5047	CLIP-seq
MIRT2622257	hsa-miR-510	CLIP-seq
MIRT2622258	hsa-miR-512-5p	CLIP-seq
MIRT2622259	hsa-miR-526b	CLIP-seq
MIRT2622260	hsa-miR-548aa	CLIP-seq
MIRT2622261	hsa-miR-548m	CLIP-seq
MIRT2102237	hsa-miR-612	CLIP-seq
MIRT2622262	hsa-miR-615-3p	CLIP-seq
MIRT2622263	hsa-miR-615-5p	CLIP-seq
MIRT2622264	hsa-miR-622	CLIP-seq
MIRT2622265	hsa-miR-625	CLIP-seq
MIRT2102238	hsa-miR-632	CLIP-seq
MIRT2622266	hsa-miR-635	CLIP-seq
MIRT2622267	hsa-miR-641	CLIP-seq
MIRT2102239	hsa-miR-654-3p	CLIP-seq
MIRT1345572	hsa-miR-671-3p	CLIP-seq
MIRT1922372	hsa-miR-708	CLIP-seq
MIRT1922373	hsa-miR-765	CLIP-seq
MIRT1345575	hsa-miR-890	CLIP-seq
MIRT2102244	hsa-miR-9	CLIP-seq
MIRT2102246	hsa-miR-98	CLIP-seq
MIRT2102157	hsa-let-7a	CLIP-seq
MIRT2102158	hsa-let-7b	CLIP-seq
MIRT2102159	hsa-let-7c	CLIP-seq
MIRT2102160	hsa-let-7d	CLIP-seq
MIRT2102161	hsa-let-7e	CLIP-seq
MIRT2102162	hsa-let-7f	CLIP-seq
MIRT2102163	hsa-let-7g	CLIP-seq
MIRT2102164	hsa-let-7i	CLIP-seq
MIRT2690646	hsa-miR-1178	CLIP-seq
MIRT2102166	hsa-miR-1184	CLIP-seq
MIRT2690647	hsa-miR-1202	CLIP-seq
MIRT2690648	hsa-miR-1204	CLIP-seq
MIRT1345502	hsa-miR-1205	CLIP-seq
MIRT1345504	hsa-miR-1243	CLIP-seq
MIRT2102167	hsa-miR-1246	CLIP-seq
MIRT2102168	hsa-miR-1252	CLIP-seq
MIRT2622207	hsa-miR-1254	CLIP-seq
MIRT2690649	hsa-miR-1257	CLIP-seq
MIRT2102169	hsa-miR-1258	CLIP-seq
MIRT2622208	hsa-miR-1266	CLIP-seq
MIRT2622209	hsa-miR-1275	CLIP-seq
MIRT2102170	hsa-miR-128	CLIP-seq
MIRT2102171	hsa-miR-1285	CLIP-seq
MIRT2102172	hsa-miR-1294	CLIP-seq
MIRT2622210	hsa-miR-1296	CLIP-seq
MIRT2622211	hsa-miR-1301	CLIP-seq
MIRT2102174	hsa-miR-133a	CLIP-seq
MIRT2102175	hsa-miR-133b	CLIP-seq
MIRT2622212	hsa-miR-151-3p	CLIP-seq
MIRT2102178	hsa-miR-18a	CLIP-seq
MIRT2102179	hsa-miR-18b	CLIP-seq
MIRT2690650	hsa-miR-1910	CLIP-seq
MIRT2102182	hsa-miR-202	CLIP-seq
MIRT2690651	hsa-miR-205	CLIP-seq
MIRT2622213	hsa-miR-2116	CLIP-seq
MIRT2442620	hsa-miR-24	CLIP-seq
MIRT2102184	hsa-miR-27a	CLIP-seq
MIRT2102185	hsa-miR-27b	CLIP-seq
MIRT1922363	hsa-miR-28-5p	CLIP-seq
MIRT1345518	hsa-miR-2861	CLIP-seq
MIRT2622214	hsa-miR-2909	CLIP-seq
MIRT2622215	hsa-miR-2964a-5p	CLIP-seq
MIRT2326744	hsa-miR-298	CLIP-seq
MIRT1922364	hsa-miR-29a	CLIP-seq
MIRT1922365	hsa-miR-29b	CLIP-seq
MIRT1922366	hsa-miR-29c	CLIP-seq
MIRT2622216	hsa-miR-3065-3p	CLIP-seq
MIRT2622217	hsa-miR-3065-5p	CLIP-seq
MIRT2622218	hsa-miR-3116	CLIP-seq
MIRT2622219	hsa-miR-3130-3p	CLIP-seq
MIRT2622220	hsa-miR-3133	CLIP-seq
MIRT2622221	hsa-miR-3137	CLIP-seq
MIRT1922367	hsa-miR-3139	CLIP-seq
MIRT1922368	hsa-miR-3150b-3p	CLIP-seq
MIRT2622222	hsa-miR-3153	CLIP-seq
MIRT2442621	hsa-miR-3155	CLIP-seq
MIRT2442622	hsa-miR-3155b	CLIP-seq
MIRT2102188	hsa-miR-3158-5p	CLIP-seq
MIRT1345523	hsa-miR-3169	CLIP-seq
MIRT2102189	hsa-miR-3173-3p	CLIP-seq
MIRT2102190	hsa-miR-3173-5p	CLIP-seq
MIRT2622223	hsa-miR-3178	CLIP-seq
MIRT2690652	hsa-miR-3187-3p	CLIP-seq
MIRT2102191	hsa-miR-3187-5p	CLIP-seq
MIRT2622224	hsa-miR-3189-3p	CLIP-seq
MIRT2102192	hsa-miR-3194-3p	CLIP-seq
MIRT2690653	hsa-miR-3194-5p	CLIP-seq
MIRT1345526	hsa-miR-3202	CLIP-seq
MIRT2622225	hsa-miR-323-5p	CLIP-seq
MIRT2622226	hsa-miR-335	CLIP-seq
MIRT2690654	hsa-miR-342-5p	CLIP-seq
MIRT2102193	hsa-miR-346	CLIP-seq
MIRT2622227	hsa-miR-3607-5p	CLIP-seq
MIRT2690655	hsa-miR-3611	CLIP-seq
MIRT2622228	hsa-miR-361-3p	CLIP-seq
MIRT2622229	hsa-miR-3617	CLIP-seq
MIRT2102194	hsa-miR-3618	CLIP-seq
MIRT1345529	hsa-miR-3654	CLIP-seq
MIRT2622230	hsa-miR-3679-3p	CLIP-seq
MIRT2326748	hsa-miR-3690	CLIP-seq
MIRT2622231	hsa-miR-375	CLIP-seq
MIRT2102196	hsa-miR-3907	CLIP-seq
MIRT2690656	hsa-miR-3936	CLIP-seq
MIRT2690657	hsa-miR-3972	CLIP-seq
MIRT2326749	hsa-miR-3978	CLIP-seq
MIRT2690658	hsa-miR-4264	CLIP-seq
MIRT2102201	hsa-miR-4266	CLIP-seq
MIRT2622232	hsa-miR-4267	CLIP-seq
MIRT2690659	hsa-miR-4272	CLIP-seq
MIRT2622233	hsa-miR-4273	CLIP-seq
MIRT2442623	hsa-miR-4284	CLIP-seq
MIRT2102202	hsa-miR-4288	CLIP-seq
MIRT2622234	hsa-miR-4307	CLIP-seq
MIRT2622235	hsa-miR-4311	CLIP-seq
MIRT1345542	hsa-miR-4318	CLIP-seq
MIRT2622236	hsa-miR-4432	CLIP-seq
MIRT2690660	hsa-miR-4435	CLIP-seq
MIRT2690661	hsa-miR-4453	CLIP-seq
MIRT2690662	hsa-miR-4457	CLIP-seq
MIRT2102208	hsa-miR-4458	CLIP-seq
MIRT2442624	hsa-miR-4462	CLIP-seq
MIRT2102209	hsa-miR-4468	CLIP-seq
MIRT2102210	hsa-miR-4470	CLIP-seq
MIRT2622237	hsa-miR-4476	CLIP-seq
MIRT2102211	hsa-miR-4487	CLIP-seq
MIRT2622238	hsa-miR-4490	CLIP-seq
MIRT2102214	hsa-miR-4500	CLIP-seq
MIRT2622239	hsa-miR-4512	CLIP-seq
MIRT2622240	hsa-miR-4518	CLIP-seq
MIRT2690663	hsa-miR-451b	CLIP-seq
MIRT2622241	hsa-miR-4525	CLIP-seq
MIRT2102217	hsa-miR-4527	CLIP-seq
MIRT1345547	hsa-miR-4533	CLIP-seq
MIRT2690664	hsa-miR-4538	CLIP-seq
MIRT2102219	hsa-miR-455-3p	CLIP-seq
MIRT2622242	hsa-miR-4638-3p	CLIP-seq
MIRT2442625	hsa-miR-4643	CLIP-seq
MIRT2102221	hsa-miR-4650-5p	CLIP-seq
MIRT2622243	hsa-miR-4660	CLIP-seq
MIRT2690665	hsa-miR-4664-5p	CLIP-seq
MIRT2622244	hsa-miR-4665-5p	CLIP-seq
MIRT2622245	hsa-miR-4677-5p	CLIP-seq
MIRT2442626	hsa-miR-4687-3p	CLIP-seq
MIRT1922369	hsa-miR-4689	CLIP-seq
MIRT2622246	hsa-miR-4690-5p	CLIP-seq
MIRT2622247	hsa-miR-4691-3p	CLIP-seq
MIRT2690666	hsa-miR-4695-3p	CLIP-seq
MIRT2690667	hsa-miR-4701-5p	CLIP-seq
MIRT2102223	hsa-miR-4710	CLIP-seq
MIRT2622248	hsa-miR-4715-3p	CLIP-seq
MIRT2442627	hsa-miR-4717-3p	CLIP-seq
MIRT2622249	hsa-miR-4720-3p	CLIP-seq
MIRT2622250	hsa-miR-4723-5p	CLIP-seq
MIRT2102225	hsa-miR-4731-3p	CLIP-seq
MIRT2102226	hsa-miR-4735-3p	CLIP-seq
MIRT2102228	hsa-miR-4742-5p	CLIP-seq
MIRT2622251	hsa-miR-4757-5p	CLIP-seq
MIRT2102230	hsa-miR-4764-5p	CLIP-seq
MIRT1922370	hsa-miR-4784	CLIP-seq
MIRT2622252	hsa-miR-4787-5p	CLIP-seq
MIRT2690668	hsa-miR-4790-3p	CLIP-seq
MIRT2102232	hsa-miR-4792	CLIP-seq
MIRT2690669	hsa-miR-4797-3p	CLIP-seq
MIRT2102233	hsa-miR-4801	CLIP-seq
MIRT2442628	hsa-miR-484	CLIP-seq
MIRT2622253	hsa-miR-486-3p	CLIP-seq
MIRT2102235	hsa-miR-488	CLIP-seq
MIRT1922371	hsa-miR-494	CLIP-seq
MIRT2622254	hsa-miR-495	CLIP-seq
MIRT2622255	hsa-miR-499-5p	CLIP-seq
MIRT2622256	hsa-miR-5047	CLIP-seq
MIRT2622257	hsa-miR-510	CLIP-seq
MIRT2622258	hsa-miR-512-5p	CLIP-seq
MIRT2690670	hsa-miR-513b	CLIP-seq
MIRT2622259	hsa-miR-526b	CLIP-seq
MIRT2690671	hsa-miR-545	CLIP-seq
MIRT2622260	hsa-miR-548aa	CLIP-seq
MIRT2622261	hsa-miR-548m	CLIP-seq
MIRT2690672	hsa-miR-548s	CLIP-seq
MIRT2690673	hsa-miR-588	CLIP-seq
MIRT2102237	hsa-miR-612	CLIP-seq
MIRT2622262	hsa-miR-615-3p	CLIP-seq
MIRT2622263	hsa-miR-615-5p	CLIP-seq
MIRT2622264	hsa-miR-622	CLIP-seq
MIRT2622265	hsa-miR-625	CLIP-seq
MIRT2102238	hsa-miR-632	CLIP-seq
MIRT2622266	hsa-miR-635	CLIP-seq
MIRT2622267	hsa-miR-641	CLIP-seq
MIRT2326760	hsa-miR-652	CLIP-seq
MIRT2102239	hsa-miR-654-3p	CLIP-seq
MIRT1345572	hsa-miR-671-3p	CLIP-seq
MIRT1922372	hsa-miR-708	CLIP-seq
MIRT1922373	hsa-miR-765	CLIP-seq
MIRT1345575	hsa-miR-890	CLIP-seq
MIRT2102244	hsa-miR-9	CLIP-seq
MIRT2102246	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	20137777
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IMP	20137777
GO:0002102	Component	Podosome	IEA
GO:0002102	Component	Podosome	ISS
GO:0005515	Function	Protein binding	IPI	19755710, 20609497
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006801	Process	Superoxide metabolic process	IDA	19755710
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	20137777
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	ISS
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0022617	Process	Extracellular matrix disassembly	IMP	19755710
GO:0030154	Process	Cell differentiation	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042169	Function	SH2 domain binding	ISS
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042995	Component	Cell projection	IEA
GO:0060348	Process	Bone development	IEA
GO:0060348	Process	Bone development	IMP	20137777
GO:0060612	Process	Adipose tissue development	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071800	Process	Podosome assembly	ISS
GO:0072657	Process	Protein localization to membrane	IDA	19755710
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	ISS

Other IDs

• MIM: 613293
• HGNC: 29242
• e!Ensembl: ENSG00000174705

Protein

• UniProt ID: A1X283
• Protein name: SH3 and PX domain-containing protein 2B (Adapter protein HOFI) (Factor for adipocyte differentiation 49) (Tyrosine kinase substrate with four SH3 domains)
• Protein function: Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dep
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00787	PX	31 → 125	PX domain	Domain
  PF00018	SH3_1	158 → 203	SH3 domain	Domain
  PF00018	SH3_1	227 → 272	SH3 domain	Domain
  PF00018	SH3_1	374 → 419	SH3 domain	Domain
  PF07653	SH3_2	854 → 910	Variant SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblasts. {ECO:0000269|PubMed:20137777}.
• Sequence:

  MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFP
  MEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQ
  FFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVD
  IIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEM
  NLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDL
  DGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNL
  PKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPAT
  FIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDS
  GLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERE
  RERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGH
  KVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQ
  VDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLS
  PKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRG
  PQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAA
  AASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEG
  WIPSNYLRKKP

• Sequence length: 911

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Frank-Ter Haar syndrome	Likely pathogenic; Pathogenic	rs2113311300, rs794728005, rs794728006, rs267607046, rs775217258, rs367543284	RCV001783742 RCV000000211 RCV000000212 RCV000000213 RCV000000214 RCV000201206	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SH3PXD2B-related disorder	Pathogenic	rs753161047	RCV003898704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	22509100		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	19669234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borrone Di Rocco Crovato syndrome	Borrone Di Rocco Crovato Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33906640	Stimulate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31671862		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20943948	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20137777		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	26209787	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35955935	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frank-Ter Haar syndrome	Frank-Ter Haar Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	BEFREE	22509100		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22509100		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36932446	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35955935	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	31211954		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	23140272	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25176655		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31671862		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	20137777		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30962481		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	21818352		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	22509100		★☆☆☆☆ Found in Text Mining only
Pseudotumor Cerebri	intracranial hypertension	BEFREE	29100834		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	20137777		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33879222	Stimulate	★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	BEFREE	20137777, 22829589, 23140272, 24105366, 26183326, 28694206, 29928795, 30962481		★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	GENOMICS_ENGLAND_DG	20137777, 23140272, 7158646		★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	UNIPROT_DG	20137777		★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	ORPHANET_DG	20137777		★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ter Haar syndrome	Ter Haar Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only