ANTXR2 (ANTXR cell adhesion molecule 2)

Gene

• Entrez ID: 118429
• Gene name: ANTXR cell adhesion molecule 2
• Gene symbol: ANTXR2
• Synonyms (NCBI Gene): CMG-2, CMG2, HFS, ISH, JHF
• Chromosome: 4
• Chromosome location: 4q21.21
• Summary: This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852901	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs137852902	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852903	A>C	Pathogenic	Missense variant, coding sequence variant
rs137852904	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs137852905	A>G	Pathogenic	Missense variant, coding sequence variant
rs312262690	->G,GG	Pathogenic	Coding sequence variant, frameshift variant
rs312262693	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs546102223	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs797045028	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045029	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039907	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886041401	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057521726	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553933367	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1560998734	ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578125066	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578172709	->T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017139	hsa-miR-335-5p	Microarray	18185580
MIRT044967	hsa-miR-186-5p	CLASH	23622248
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT660610	hsa-miR-1264	HITS-CLIP	23824327
MIRT539210	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT660609	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660608	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT660607	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT624734	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT624733	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT638988	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT638987	hsa-miR-8081	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT638988	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT638987	hsa-miR-8081	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT624734	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT624733	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT539210	hsa-miR-3529-3p	PAR-CLIP	22012620
MIRT539209	hsa-miR-5694	PAR-CLIP	22012620
MIRT539208	hsa-miR-4678	PAR-CLIP	22012620
MIRT539207	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT539206	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT539205	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT539204	hsa-miR-8085	PAR-CLIP	22012620
MIRT539203	hsa-miR-1233-5p	PAR-CLIP	22012620
MIRT539202	hsa-miR-6778-5p	PAR-CLIP	22012620
MIRT539201	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT539200	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT539199	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT449378	hsa-miR-5692a	PAR-CLIP	22100165
MIRT449377	hsa-miR-548p	PAR-CLIP	22100165
MIRT449376	hsa-miR-5190	PAR-CLIP	22100165
MIRT449375	hsa-miR-6768-5p	PAR-CLIP	22100165
MIRT449374	hsa-miR-888-3p	PAR-CLIP	22100165
MIRT449373	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT449372	hsa-miR-4513	PAR-CLIP	22100165
MIRT449371	hsa-miR-6855-3p	PAR-CLIP	22100165
MIRT449369	hsa-miR-6857-3p	PAR-CLIP	22100165
MIRT449370	hsa-miR-3941	PAR-CLIP	22100165
MIRT449368	hsa-miR-4672	PAR-CLIP	22100165
MIRT449367	hsa-miR-466	PAR-CLIP	22100165
MIRT449366	hsa-miR-3136-5p	PAR-CLIP	22100165
MIRT449365	hsa-miR-4439	PAR-CLIP	22100165
MIRT449364	hsa-miR-943	PAR-CLIP	22100165
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT660610	hsa-miR-1264	HITS-CLIP	23824327
MIRT539210	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT660609	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660608	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT660607	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT624734	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT624733	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT638988	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT638987	hsa-miR-8081	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT638988	hsa-miR-627-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT638987	hsa-miR-8081	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT628448	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT628447	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT628446	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT628445	hsa-miR-4469	HITS-CLIP	23824327
MIRT628444	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT628443	hsa-miR-4287	HITS-CLIP	23824327
MIRT628442	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT390883	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT390881	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628441	hsa-miR-5702	HITS-CLIP	23824327
MIRT628440	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT628439	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT628438	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628437	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628436	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT628435	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT628434	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT628433	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT628432	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT624734	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT624733	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT613328	hsa-miR-8485	HITS-CLIP	23824327
MIRT613327	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT613326	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT613325	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT539210	hsa-miR-3529-3p	PAR-CLIP	22012620
MIRT539209	hsa-miR-5694	PAR-CLIP	22012620
MIRT539208	hsa-miR-4678	PAR-CLIP	22012620
MIRT539207	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT539206	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT539205	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT539204	hsa-miR-8085	PAR-CLIP	22012620
MIRT539203	hsa-miR-1233-5p	PAR-CLIP	22012620
MIRT539202	hsa-miR-6778-5p	PAR-CLIP	22012620
MIRT539201	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT539200	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT539199	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT449378	hsa-miR-5692a	PAR-CLIP	22100165
MIRT449377	hsa-miR-548p	PAR-CLIP	22100165
MIRT449376	hsa-miR-5190	PAR-CLIP	22100165
MIRT449375	hsa-miR-6768-5p	PAR-CLIP	22100165
MIRT449374	hsa-miR-888-3p	PAR-CLIP	22100165
MIRT449373	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT449372	hsa-miR-4513	PAR-CLIP	22100165
MIRT449371	hsa-miR-6855-3p	PAR-CLIP	22100165
MIRT449369	hsa-miR-6857-3p	PAR-CLIP	22100165
MIRT449370	hsa-miR-3941	PAR-CLIP	22100165
MIRT449368	hsa-miR-4672	PAR-CLIP	22100165
MIRT449367	hsa-miR-466	PAR-CLIP	22100165
MIRT449366	hsa-miR-3136-5p	PAR-CLIP	22100165
MIRT449365	hsa-miR-4439	PAR-CLIP	22100165
MIRT449364	hsa-miR-943	PAR-CLIP	22100165
MIRT786297	hsa-miR-1255a	CLIP-seq
MIRT786298	hsa-miR-1255b	CLIP-seq
MIRT786299	hsa-miR-1262	CLIP-seq
MIRT786300	hsa-miR-129-5p	CLIP-seq
MIRT786301	hsa-miR-203	CLIP-seq
MIRT786302	hsa-miR-28-3p	CLIP-seq
MIRT786303	hsa-miR-3074-5p	CLIP-seq
MIRT786304	hsa-miR-3121-5p	CLIP-seq
MIRT786305	hsa-miR-3126-5p	CLIP-seq
MIRT786306	hsa-miR-34b	CLIP-seq
MIRT786307	hsa-miR-3545-3p	CLIP-seq
MIRT786308	hsa-miR-3614-5p	CLIP-seq
MIRT786309	hsa-miR-376a	CLIP-seq
MIRT786310	hsa-miR-376b	CLIP-seq
MIRT786311	hsa-miR-377	CLIP-seq
MIRT786312	hsa-miR-3942-3p	CLIP-seq
MIRT786313	hsa-miR-4293	CLIP-seq
MIRT786314	hsa-miR-4419a	CLIP-seq
MIRT786315	hsa-miR-4455	CLIP-seq
MIRT786316	hsa-miR-450b-5p	CLIP-seq
MIRT786317	hsa-miR-4510	CLIP-seq
MIRT786318	hsa-miR-455-5p	CLIP-seq
MIRT786319	hsa-miR-4680-5p	CLIP-seq
MIRT786320	hsa-miR-4694-5p	CLIP-seq
MIRT786321	hsa-miR-4701-3p	CLIP-seq
MIRT786322	hsa-miR-4760-5p	CLIP-seq
MIRT786323	hsa-miR-4772-3p	CLIP-seq
MIRT786324	hsa-miR-4797-5p	CLIP-seq
MIRT786325	hsa-miR-491-3p	CLIP-seq
MIRT786326	hsa-miR-507	CLIP-seq
MIRT786327	hsa-miR-508-5p	CLIP-seq
MIRT786328	hsa-miR-513a-3p	CLIP-seq
MIRT786329	hsa-miR-542-3p	CLIP-seq
MIRT786330	hsa-miR-550a	CLIP-seq
MIRT786331	hsa-miR-557	CLIP-seq
MIRT786332	hsa-miR-570	CLIP-seq
MIRT786333	hsa-miR-577	CLIP-seq
MIRT786334	hsa-miR-580	CLIP-seq
MIRT786335	hsa-miR-587	CLIP-seq
MIRT786336	hsa-miR-609	CLIP-seq
MIRT786337	hsa-miR-627	CLIP-seq
MIRT786338	hsa-miR-642a	CLIP-seq
MIRT786339	hsa-miR-661	CLIP-seq
MIRT786340	hsa-miR-766	CLIP-seq
MIRT786341	hsa-miR-885-5p	CLIP-seq
MIRT786342	hsa-miR-891b	CLIP-seq
MIRT1545422	hsa-miR-1827	CLIP-seq
MIRT786308	hsa-miR-3614-5p	CLIP-seq
MIRT1545423	hsa-miR-4459	CLIP-seq
MIRT1545424	hsa-miR-4499	CLIP-seq
MIRT1545425	hsa-miR-4649-3p	CLIP-seq
MIRT1545426	hsa-miR-4722-5p	CLIP-seq
MIRT1545427	hsa-miR-940	CLIP-seq
MIRT786322	hsa-miR-4760-5p	CLIP-seq
MIRT786322	hsa-miR-4760-5p	CLIP-seq
MIRT786322	hsa-miR-4760-5p	CLIP-seq
MIRT1931933	hsa-miR-1246	CLIP-seq
MIRT786299	hsa-miR-1262	CLIP-seq
MIRT1931934	hsa-miR-1305	CLIP-seq
MIRT786303	hsa-miR-3074-5p	CLIP-seq
MIRT1931935	hsa-miR-3130-3p	CLIP-seq
MIRT1931936	hsa-miR-3137	CLIP-seq
MIRT1931937	hsa-miR-3145-3p	CLIP-seq
MIRT1931938	hsa-miR-3194-5p	CLIP-seq
MIRT786307	hsa-miR-3545-3p	CLIP-seq
MIRT1931939	hsa-miR-4453	CLIP-seq
MIRT1931940	hsa-miR-4477a	CLIP-seq
MIRT1931941	hsa-miR-448	CLIP-seq
MIRT1931942	hsa-miR-4538	CLIP-seq
MIRT1931943	hsa-miR-4676-5p	CLIP-seq
MIRT786319	hsa-miR-4680-5p	CLIP-seq
MIRT786321	hsa-miR-4701-3p	CLIP-seq
MIRT1931944	hsa-miR-4793-3p	CLIP-seq
MIRT786324	hsa-miR-4797-5p	CLIP-seq
MIRT786327	hsa-miR-508-5p	CLIP-seq
MIRT786329	hsa-miR-542-3p	CLIP-seq
MIRT786330	hsa-miR-550a	CLIP-seq
MIRT1931945	hsa-miR-575	CLIP-seq
MIRT1931946	hsa-miR-630	CLIP-seq
MIRT786339	hsa-miR-661	CLIP-seq
MIRT1931947	hsa-miR-759	CLIP-seq
MIRT786340	hsa-miR-766	CLIP-seq
MIRT1931933	hsa-miR-1246	CLIP-seq
MIRT2172382	hsa-miR-1290	CLIP-seq
MIRT2172383	hsa-miR-155	CLIP-seq
MIRT2172384	hsa-miR-198	CLIP-seq
MIRT2172385	hsa-miR-2052	CLIP-seq
MIRT2172386	hsa-miR-221	CLIP-seq
MIRT2172387	hsa-miR-222	CLIP-seq
MIRT2172388	hsa-miR-2682	CLIP-seq
MIRT786303	hsa-miR-3074-5p	CLIP-seq
MIRT1931937	hsa-miR-3145-3p	CLIP-seq
MIRT2172389	hsa-miR-3167	CLIP-seq
MIRT2172390	hsa-miR-323-3p	CLIP-seq
MIRT2172391	hsa-miR-3618	CLIP-seq
MIRT2172392	hsa-miR-411	CLIP-seq
MIRT2172393	hsa-miR-4297	CLIP-seq
MIRT1545423	hsa-miR-4459	CLIP-seq
MIRT2172394	hsa-miR-4477b	CLIP-seq
MIRT2172395	hsa-miR-449c	CLIP-seq
MIRT2172396	hsa-miR-4641	CLIP-seq
MIRT2172397	hsa-miR-4698	CLIP-seq
MIRT786322	hsa-miR-4760-5p	CLIP-seq
MIRT786323	hsa-miR-4772-3p	CLIP-seq
MIRT2172398	hsa-miR-4786-3p	CLIP-seq
MIRT786328	hsa-miR-513a-3p	CLIP-seq
MIRT2172399	hsa-miR-545	CLIP-seq
MIRT2172400	hsa-miR-548an	CLIP-seq
MIRT2172401	hsa-miR-548v	CLIP-seq
MIRT786335	hsa-miR-587	CLIP-seq
MIRT2172402	hsa-miR-622	CLIP-seq
MIRT2172403	hsa-miR-645	CLIP-seq
MIRT2172404	hsa-miR-671-5p	CLIP-seq
MIRT2172405	hsa-miR-876-5p	CLIP-seq
MIRT786342	hsa-miR-891b	CLIP-seq
MIRT1545427	hsa-miR-940	CLIP-seq
MIRT1931934	hsa-miR-1305	CLIP-seq
MIRT2384246	hsa-miR-147	CLIP-seq
MIRT2384247	hsa-miR-1914	CLIP-seq
MIRT2384248	hsa-miR-1976	CLIP-seq
MIRT786303	hsa-miR-3074-5p	CLIP-seq
MIRT2384249	hsa-miR-3124-3p	CLIP-seq
MIRT2384250	hsa-miR-3177-5p	CLIP-seq
MIRT2384251	hsa-miR-370	CLIP-seq
MIRT786311	hsa-miR-377	CLIP-seq
MIRT2384252	hsa-miR-3911	CLIP-seq
MIRT2384253	hsa-miR-4263	CLIP-seq
MIRT1545423	hsa-miR-4459	CLIP-seq
MIRT2384254	hsa-miR-4709-3p	CLIP-seq
MIRT2384255	hsa-miR-576-5p	CLIP-seq
MIRT2384256	hsa-miR-644	CLIP-seq
MIRT2384257	hsa-miR-663b	CLIP-seq
MIRT2441958	hsa-miR-208a	CLIP-seq
MIRT2441959	hsa-miR-208b	CLIP-seq
MIRT2172390	hsa-miR-323-3p	CLIP-seq
MIRT2441960	hsa-miR-3617	CLIP-seq
MIRT2441961	hsa-miR-499-5p	CLIP-seq
MIRT2441962	hsa-miR-641	CLIP-seq
MIRT2441963	hsa-miR-758	CLIP-seq
MIRT2475298	hsa-miR-101	CLIP-seq
MIRT2475299	hsa-miR-1284	CLIP-seq
MIRT2475300	hsa-miR-144	CLIP-seq
MIRT786301	hsa-miR-203	CLIP-seq
MIRT2475301	hsa-miR-23a	CLIP-seq
MIRT2475302	hsa-miR-23b	CLIP-seq
MIRT2475303	hsa-miR-23c	CLIP-seq
MIRT2475304	hsa-miR-323-5p	CLIP-seq
MIRT2475305	hsa-miR-323b-5p	CLIP-seq
MIRT2475306	hsa-miR-330-3p	CLIP-seq
MIRT786306	hsa-miR-34b	CLIP-seq
MIRT786307	hsa-miR-3545-3p	CLIP-seq
MIRT2475307	hsa-miR-3664-5p	CLIP-seq
MIRT2475308	hsa-miR-3672	CLIP-seq
MIRT2475309	hsa-miR-3692	CLIP-seq
MIRT2475310	hsa-miR-369-3p	CLIP-seq
MIRT2475311	hsa-miR-374a	CLIP-seq
MIRT2475312	hsa-miR-374b	CLIP-seq
MIRT2475313	hsa-miR-374c	CLIP-seq
MIRT2475314	hsa-miR-4252	CLIP-seq
MIRT2475315	hsa-miR-4258	CLIP-seq
MIRT2384253	hsa-miR-4263	CLIP-seq
MIRT2475316	hsa-miR-4289	CLIP-seq
MIRT2475317	hsa-miR-4436b-5p	CLIP-seq
MIRT2475318	hsa-miR-4462	CLIP-seq
MIRT2475319	hsa-miR-4522	CLIP-seq
MIRT2475320	hsa-miR-4690-5p	CLIP-seq
MIRT2475321	hsa-miR-4691-3p	CLIP-seq
MIRT2475322	hsa-miR-4707-3p	CLIP-seq
MIRT2475323	hsa-miR-4717-3p	CLIP-seq
MIRT2475324	hsa-miR-4796-5p	CLIP-seq
MIRT786324	hsa-miR-4797-5p	CLIP-seq
MIRT2475325	hsa-miR-4799-5p	CLIP-seq
MIRT2384255	hsa-miR-576-5p	CLIP-seq
MIRT2475326	hsa-miR-607	CLIP-seq
MIRT2475327	hsa-miR-616	CLIP-seq
MIRT2475328	hsa-miR-653	CLIP-seq
MIRT2475329	hsa-miR-655	CLIP-seq
MIRT1931947	hsa-miR-759	CLIP-seq
MIRT2475330	hsa-miR-876-3p	CLIP-seq
MIRT2475299	hsa-miR-1284	CLIP-seq
MIRT786301	hsa-miR-203	CLIP-seq
MIRT2475301	hsa-miR-23a	CLIP-seq
MIRT2475302	hsa-miR-23b	CLIP-seq
MIRT2475303	hsa-miR-23c	CLIP-seq
MIRT2475304	hsa-miR-323-5p	CLIP-seq
MIRT2475306	hsa-miR-330-3p	CLIP-seq
MIRT2675067	hsa-miR-3691-3p	CLIP-seq
MIRT2475309	hsa-miR-3692	CLIP-seq
MIRT2475310	hsa-miR-369-3p	CLIP-seq
MIRT2675068	hsa-miR-371b-3p	CLIP-seq
MIRT2675069	hsa-miR-371b-5p	CLIP-seq
MIRT2475311	hsa-miR-374a	CLIP-seq
MIRT2475312	hsa-miR-374b	CLIP-seq
MIRT2475313	hsa-miR-374c	CLIP-seq
MIRT2675070	hsa-miR-3927	CLIP-seq
MIRT2475314	hsa-miR-4252	CLIP-seq
MIRT2475315	hsa-miR-4258	CLIP-seq
MIRT2384253	hsa-miR-4263	CLIP-seq
MIRT2475316	hsa-miR-4289	CLIP-seq
MIRT2475317	hsa-miR-4436b-5p	CLIP-seq
MIRT2675071	hsa-miR-4451	CLIP-seq
MIRT2475318	hsa-miR-4462	CLIP-seq
MIRT2675072	hsa-miR-4668-3p	CLIP-seq
MIRT2475320	hsa-miR-4690-5p	CLIP-seq
MIRT2475321	hsa-miR-4691-3p	CLIP-seq
MIRT2172397	hsa-miR-4698	CLIP-seq
MIRT2475322	hsa-miR-4707-3p	CLIP-seq
MIRT2384254	hsa-miR-4709-3p	CLIP-seq
MIRT2475323	hsa-miR-4717-3p	CLIP-seq
MIRT2675073	hsa-miR-4749-3p	CLIP-seq
MIRT2475324	hsa-miR-4796-5p	CLIP-seq
MIRT2475325	hsa-miR-4799-5p	CLIP-seq
MIRT2384255	hsa-miR-576-5p	CLIP-seq
MIRT2475327	hsa-miR-616	CLIP-seq
MIRT2475329	hsa-miR-655	CLIP-seq
MIRT2475330	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	15044490, 15243628, 15326297
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007338	Process	Single fertilization	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060065	Process	Uterus development	IEA

Other IDs

• MIM: 608041
• HGNC: 21732
• e!Ensembl: ENSG00000163297

Protein

• UniProt ID: P58335
• Protein name: Anthrax toxin receptor 2 (Capillary morphogenesis gene 2 protein) (CMG-2)
• Protein function: Necessary for cellular interactions with laminin and the extracellular matrix. ; (Microbial infection) Receptor for the protective antigen (PA) of B.anthracis (PubMed:12700348,
• PDB: 1SHT, 1SHU, 1T6B, 1TZN, 7N1O, 8FT6, 8FT8, 8FZ4, 8FZU, 8FZV, 9DOC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	44 → 212	von Willebrand factor type A domain	Domain
  PF05587	Anth_Ig	216 → 317	Anthrax receptor extracellular domain	Domain
  PF05586	Ant_C	394 → 484	Anthrax receptor C-terminus region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. {ECO:0000269|PubMed:14508707}.
• Sequence:

  MVAERSPARSPGSWLFPGLWLLVLSGPGGLLRAQEQPSCRRAFDLYFVLDKSGSVANNWI
  EIYNFVQQLAERFVSPEMRLSFIVFSSQATIILPLTGDRGKISKGLEDLKRVSPVGETYI
  HEGLKLANEQIQKAGGLKTSSIIIALTDGKLDGLVPSYAEKEAKISRSLGASVYCVGVLD
  FEQAQLERIADSKEQVFPVKGGFQALKGIINSILAQSCTEILELQPSSVCVGEEFQIVLS
  GRGFMLGSRNGSVLCTYTVNETYTTSVKPVSVQLNSMLCPAPILNKAGETLDVSVSFNGG
  KSVISGSLIVTATECSNGIAAIIVILVLLLLLGIGLMWWFWPLCCKVVIKDPPPPPAPAP
  KEEEEEPLPTKKWPTVDASYYGGRGVGGIKRMEVRWGDKGSTEEGARLEKAKNAVVKIPE
  ETEEPIRPRPPRPKPTHQPPQTKWYTPIKGRLDALWALLRRQYDRVSLMRPQEGDEVCIW
  ECIEKELTA

• Sequence length: 489

Pathways

KEGG:

NOD-like receptor signaling pathway

Reactome:

Uptake and function of anthrax toxins

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
ANTXR2-related disorder	Likely pathogenic	rs779690230	RCV003419017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs779690230	RCV005932793	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyaline fibromatosis syndrome	Likely pathogenic; Pathogenic	rs2110109074, rs312262690, rs546102223, rs137852901, rs137852902, rs137852903, rs137852904, rs137852905, rs2476136524, rs797045028, rs797045029, rs2475931922, rs2476136571, rs2476139225, rs1312776461, rs886041401, rs750324212, rs2475777661, rs2475949002, rs312262693, rs1553933367, rs1560998734, rs1578125066, rs1578172709, rs781637328, rs556120147, rs1732803804	RCV001785948 RCV001806360 RCV000002716 RCV000002717 RCV000002718 RCV000002719 RCV000002720 RCV000002721 RCV000002722 RCV002308730 RCV000191061 RCV000191062 RCV003140486 RCV003140617 RCV003132937 RCV003155783 RCV001261563 RCV003331835 RCV003337920 RCV003338921 RCV001261562 RCV000677229 RCV000761417 RCV000991423 RCV001004058 RCV001251177 RCV001261564 RCV001261565	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile hyaline fibromatosis	Likely pathogenic; Pathogenic	rs781637328	RCV005408784	★★★★☆ 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
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central core myopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GINGIVAL HYPERTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOLYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25047676		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37759083	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	CTD_human_DG	20062062, 21743469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	20062062, 21743469, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASDB_DG	20062062, 21743469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20652271, 21041274, 21743469, 22118297, 25169729, 25200001, 25736362, 26590821, 26728147, 30255098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24667935		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36316045	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31168961	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31430854		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY	Protein-losing enteropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	25186005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29631001		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	33147779	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26177728, 26339350		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30809297		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	CTD_human_DG	12973667, 14508707		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	CTD_human_DG	12973667, 14508707		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gingival Hypertrophy	Gingival Hypertrophy	CTD_human_DG	12973667, 14508707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gingival Hypertrophy	Gingival diseases	Pubtator	25186005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	29473166		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29473166		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29473166		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	12973667, 14508707, 15725249, 16104968, 17284973, 19191226, 21328543, 22042284, 22215446, 22300424, 22383261, 23554269, 25754064, 26885603, 28103792, 28604699, 28914269, 29801470, 30152846, 31455396		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	CTD_human_DG	12973667, 14508707		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	UNIPROT_DG	12973667, 14508707, 15725249		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	ORPHANET_DG	14508707		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	CLINVAR_DG	23386947, 26633545		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	37264371	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28261314, 30417357		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40449756	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27882800, 28077422		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	24924630		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28145047, 28836833		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30666498		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile systemic hyalinosis	Systemic Hyalinosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile hyaline fibromatosis	Hyaline Fibromatosis Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24667935		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29662192, 29729036		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28454502		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19901963		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29631001		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29394264		★☆☆☆☆ Found in Text Mining only
Myxofibroma	Myxofibroma	CTD_human_DG	12973667, 14508707		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16564389, 29522272, 31665243		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23271637, 24993339, 27573653, 29215551, 29473166, 31038183		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29163369, 29566382		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	12973667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	12973667		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	12973667		★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	25458638	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	12973667		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31357506		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36316045	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	22910038	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29215551		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	31060986		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	20652271		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	20062062	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30809524		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28926591		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29662192		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	25458638	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	31044660		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	25200001	Associate	★☆☆☆☆ Found in Text Mining only