BMPR1A (bone morphogenetic protein receptor type 1A)

Gene

• Entrez ID: 657
• Gene name: Bone morphogenetic protein receptor type 1A
• Gene symbol: BMPR1A
• Synonyms (NCBI Gene): 10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
• Chromosome: 10
• Chromosome location: 10q23.2
• Summary: The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, AC

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35619497	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs55932635	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs112883778	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs113849804	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140592056	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs142454490	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149787558	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs189059377	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs191742018	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199476084	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs199476085	G>A	Pathogenic	Coding sequence variant, stop gained
rs199476086	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199476087	T>A,C	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199476088	G>A	Pathogenic	Coding sequence variant, missense variant
rs199476089	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200951235	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs576247658	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587780107	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs587780109	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780783	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587781407	A>G	Likely-pathogenic	Splice acceptor variant
rs587781928	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782388	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587782400	C>T	Pathogenic	Coding sequence variant, stop gained
rs587782494	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs587782578	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587782682	C>A,T	Likely-benign, benign, pathogenic, benign-likely-benign	Coding sequence variant, synonymous variant, stop gained
rs587782760	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587783038	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730881431	G>T	Pathogenic	Coding sequence variant, stop gained
rs759363072	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs759647230	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs763313220	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs764466442	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs771504880	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs771910503	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs786201038	T>-	Pathogenic	Stop gained, coding sequence variant
rs786201040	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs786201501	->T	Pathogenic	Stop gained, coding sequence variant
rs786201715	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203157	A>C,G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs786204187	TTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224719	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs869312758	G>A,C	Pathogenic	Missense variant, initiator codon variant
rs869312783	->TTAG	Pathogenic	Coding sequence variant, frameshift variant
rs869312790	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs876658515	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs876658891	T>C,G	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs876659520	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs876659988	A>GTTCATAGCGG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs876660442	->A	Pathogenic	Coding sequence variant, frameshift variant
rs878854664	G>A	Pathogenic	Stop gained, coding sequence variant
rs878854667	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs878854672	G>C	Likely-pathogenic	Splice donor variant
rs878854673	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs879254272	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs929042482	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1047677696	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant
rs1057517610	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1060503393	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1060503407	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1060503408	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503409	CTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064792985	TATTAATAACACATGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793490	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794031	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795654	GA>TTTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796072	G>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1131691167	A>C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1131691168	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691171	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691172	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691173	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691174	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1131691175	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691176	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691178	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1131691179	TGATGGCAGCATTCGATG>GA	Pathogenic	Frameshift variant, coding sequence variant
rs1131691180	T>G	Pathogenic	Missense variant, coding sequence variant
rs1131691181	C>G	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1131691182	T>C,G	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1131691183	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691184	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1131691185	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1230919713	C>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1392086533	C>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1404557708	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1413243663	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1554886815	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554886816	TGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554886821	C>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1554888114	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554888134	->TGTCC	Pathogenic	Frameshift variant, coding sequence variant
rs1554888310	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554888317	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554888329	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554888970	AGAATGTTGTCGGACCAAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554888986	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554890213	C>A	Pathogenic	Stop gained, coding sequence variant
rs1554890219	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1554890734	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1554890743	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1554890759	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1554890815	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1554891016	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1554891032	->ATTT	Pathogenic	Frameshift variant, coding sequence variant
rs1554891043	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1554891044	C>-	Pathogenic	Stop gained, coding sequence variant
rs1554891056	AGCCCT>TGTA	Pathogenic	Frameshift variant, coding sequence variant
rs1554891075	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1554891077	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1554891089	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554891102	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554891331	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs1554891570	C>T	Pathogenic	Stop gained, coding sequence variant
rs1564673999	CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCT	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant, 5 prime UTR variant, upstream transcript variant
rs1564710641	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564714804	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564714809	G>T	Pathogenic	Stop gained, coding sequence variant
rs1564714834	T>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1564715427	G>C	Likely-pathogenic	Splice acceptor variant
rs1564721929	->A	Pathogenic	Stop gained, coding sequence variant
rs1564722014	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564723486	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1564724111	AGGTT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1564724278	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564725052	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564725603	C>A	Pathogenic	Stop gained, coding sequence variant
rs1589288524	G>T	Likely-pathogenic	Splice acceptor variant
rs1589290773	G>A	Pathogenic	Coding sequence variant, stop gained
rs1589290779	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589290813	G>A	Likely-pathogenic	Splice donor variant
rs1589291548	G>A	Pathogenic	Coding sequence variant, stop gained
rs1589291774	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589292553	G>A	Likely-pathogenic	Splice acceptor variant
rs1589292655	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589292746	T>G	Likely-pathogenic	Splice donor variant
rs1589293414	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589293533	G>A	Likely-pathogenic	Splice donor variant
rs1589757037	AAT>-	Likely-pathogenic	Inframe deletion, 5 prime UTR variant, initiator codon variant
rs1589763343	->CCATGGCACTGGGAT	Pathogenic	Inframe insertion, coding sequence variant
rs1589763393	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589764273	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589768027	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022438	hsa-miR-124-3p	Microarray	18668037
MIRT037861	hsa-miR-455-3p	CLASH	23622248
MIRT538936	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT541914	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT538939	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	HITS-CLIP	21572407
MIRT559185	hsa-miR-1273e	HITS-CLIP	21572407
MIRT538935	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT660218	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660217	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT669347	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT669346	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT669344	hsa-miR-3920	HITS-CLIP	23824327
MIRT669343	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT660211	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669342	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT669341	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT660230	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660229	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660228	hsa-miR-548n	HITS-CLIP	23824327
MIRT660227	hsa-miR-548az-5p	HITS-CLIP	23824327
MIRT660226	hsa-miR-548t-5p	HITS-CLIP	23824327
MIRT660225	hsa-miR-5692a	HITS-CLIP	23824327
MIRT660223	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660224	hsa-miR-623	HITS-CLIP	23824327
MIRT660221	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660222	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660220	hsa-miR-8062	HITS-CLIP	23824327
MIRT660219	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT660218	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660217	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT660216	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT660215	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660214	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT660213	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT660212	hsa-miR-1281	HITS-CLIP	23824327
MIRT660211	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660210	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT660209	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660208	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660207	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT660206	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT660205	hsa-miR-1297	HITS-CLIP	23824327
MIRT660204	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660203	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660202	hsa-miR-4465	HITS-CLIP	23824327
MIRT660201	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT660200	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT660199	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT660198	hsa-miR-6750-5p	HITS-CLIP	23824327
MIRT660197	hsa-miR-6822-5p	HITS-CLIP	23824327
MIRT660196	hsa-miR-9500	HITS-CLIP	23824327
MIRT660195	hsa-miR-1253	HITS-CLIP	23824327
MIRT660194	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT660193	hsa-miR-3153	HITS-CLIP	23824327
MIRT660192	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT660191	hsa-miR-6739-5p	HITS-CLIP	23824327
MIRT178213	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT660190	hsa-miR-8055	HITS-CLIP	23824327
MIRT624553	hsa-miR-8080	HITS-CLIP	23824327
MIRT624552	hsa-miR-6816-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT624546	hsa-miR-4521	HITS-CLIP	23824327
MIRT628413	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT628413	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT624553	hsa-miR-8080	HITS-CLIP	23824327
MIRT624552	hsa-miR-6816-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624548	hsa-miR-1197	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT624546	hsa-miR-4521	HITS-CLIP	23824327
MIRT230556	hsa-miR-548l	PAR-CLIP	20371350
MIRT559194	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT559193	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT559192	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT559191	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT559190	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT559189	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT559188	hsa-miR-4459	PAR-CLIP	20371350
MIRT559187	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT559186	hsa-miR-765	PAR-CLIP	20371350
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT541914	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT538939	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT538935	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT559194	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT559193	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT559192	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT559191	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT559190	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT559189	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT559188	hsa-miR-4459	PAR-CLIP	21572407
MIRT559187	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT559186	hsa-miR-765	PAR-CLIP	21572407
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541914	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT559185	hsa-miR-1273e	PAR-CLIP	21572407
MIRT538935	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541913	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541914	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT538935	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT538935	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT449627	hsa-miR-1264	PAR-CLIP	22100165
MIRT449626	hsa-miR-34a-3p	PAR-CLIP	22100165
MIRT449624	hsa-miR-3616-5p	PAR-CLIP	22100165
MIRT449625	hsa-miR-573	PAR-CLIP	22100165
MIRT445783	hsa-miR-302f	PAR-CLIP	22100165
MIRT445782	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445781	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT445780	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT445779	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT445783	hsa-miR-302f	PAR-CLIP	22100165
MIRT445782	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445781	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT445780	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT445779	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT660212	hsa-miR-1281	PAR-CLIP	27292025
MIRT660205	hsa-miR-1297	PAR-CLIP	27292025
MIRT669346	hsa-miR-1304-3p	PAR-CLIP	27292025
MIRT660201	hsa-miR-1343-3p	PAR-CLIP	27292025
MIRT660207	hsa-miR-23a-5p	PAR-CLIP	27292025
MIRT660206	hsa-miR-23b-5p	PAR-CLIP	27292025
MIRT660204	hsa-miR-26a-5p	PAR-CLIP	27292025
MIRT660203	hsa-miR-26b-5p	PAR-CLIP	27292025
MIRT660202	hsa-miR-4465	PAR-CLIP	27292025
MIRT660216	hsa-miR-4485-5p	PAR-CLIP	27292025
MIRT037861	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT660211	hsa-miR-4772-3p	PAR-CLIP	27292025
MIRT660219	hsa-miR-6513-3p	PAR-CLIP	27292025
MIRT660215	hsa-miR-660-3p	PAR-CLIP	27292025
MIRT660200	hsa-miR-6783-3p	PAR-CLIP	27292025
MIRT660209	hsa-miR-6791-3p	PAR-CLIP	27292025
MIRT660208	hsa-miR-6829-3p	PAR-CLIP	27292025
MIRT660214	hsa-miR-6852-5p	PAR-CLIP	27292025
MIRT660218	hsa-miR-6890-3p	PAR-CLIP	27292025
MIRT660220	hsa-miR-8062	PAR-CLIP	27292025
MIRT538936	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT541914	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT538939	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	HITS-CLIP	21572407
MIRT559185	hsa-miR-1273e	HITS-CLIP	21572407
MIRT538935	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT660218	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660217	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT669347	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT669346	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT669344	hsa-miR-3920	HITS-CLIP	23824327
MIRT669343	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT660211	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669342	hsa-miR-3192-3p	HITS-CLIP	23824327
MIRT669341	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT660230	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660229	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660228	hsa-miR-548n	HITS-CLIP	23824327
MIRT660227	hsa-miR-548az-5p	HITS-CLIP	23824327
MIRT660226	hsa-miR-548t-5p	HITS-CLIP	23824327
MIRT660225	hsa-miR-5692a	HITS-CLIP	23824327
MIRT660223	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660224	hsa-miR-623	HITS-CLIP	23824327
MIRT660221	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660222	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660220	hsa-miR-8062	HITS-CLIP	23824327
MIRT660219	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT660218	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660217	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT660216	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT660215	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660214	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT660213	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT660212	hsa-miR-1281	HITS-CLIP	23824327
MIRT660211	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660210	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT660209	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660208	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660207	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT660206	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT660205	hsa-miR-1297	HITS-CLIP	23824327
MIRT660204	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660203	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660202	hsa-miR-4465	HITS-CLIP	23824327
MIRT660201	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT660200	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT660199	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT660198	hsa-miR-6750-5p	HITS-CLIP	23824327
MIRT660197	hsa-miR-6822-5p	HITS-CLIP	23824327
MIRT660196	hsa-miR-9500	HITS-CLIP	23824327
MIRT660195	hsa-miR-1253	HITS-CLIP	23824327
MIRT660194	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT660193	hsa-miR-3153	HITS-CLIP	23824327
MIRT660192	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT660191	hsa-miR-6739-5p	HITS-CLIP	23824327
MIRT178213	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT660190	hsa-miR-8055	HITS-CLIP	23824327
MIRT624553	hsa-miR-8080	HITS-CLIP	23824327
MIRT624552	hsa-miR-6816-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT624546	hsa-miR-4521	HITS-CLIP	23824327
MIRT628413	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT628413	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT624553	hsa-miR-8080	HITS-CLIP	23824327
MIRT624552	hsa-miR-6816-3p	HITS-CLIP	23824327
MIRT624551	hsa-miR-8485	HITS-CLIP	23824327
MIRT624550	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT624549	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT624548	hsa-miR-1197	HITS-CLIP	23824327
MIRT624547	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT624546	hsa-miR-4521	HITS-CLIP	23824327
MIRT230556	hsa-miR-548l	PAR-CLIP	20371350
MIRT559194	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT559193	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT559192	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT559191	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT559190	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT559189	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT559188	hsa-miR-4459	PAR-CLIP	20371350
MIRT559187	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT559186	hsa-miR-765	PAR-CLIP	20371350
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT541914	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT538939	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT538935	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT559194	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT559193	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT559192	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT559191	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT559190	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT559189	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT559188	hsa-miR-4459	PAR-CLIP	21572407
MIRT559187	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT559186	hsa-miR-765	PAR-CLIP	21572407
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541914	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT559185	hsa-miR-1273e	PAR-CLIP	21572407
MIRT538935	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541913	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541914	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541912	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT538935	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT538939	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT538938	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT538937	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT538936	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT538935	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT449627	hsa-miR-1264	PAR-CLIP	22100165
MIRT449626	hsa-miR-34a-3p	PAR-CLIP	22100165
MIRT449624	hsa-miR-3616-5p	PAR-CLIP	22100165
MIRT449625	hsa-miR-573	PAR-CLIP	22100165
MIRT445783	hsa-miR-302f	PAR-CLIP	22100165
MIRT445782	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445781	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT445780	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT445779	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT445783	hsa-miR-302f	PAR-CLIP	22100165
MIRT445782	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445781	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT445780	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT445779	hsa-miR-510-3p	PAR-CLIP	22100165
MIRT756477	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Immunoprecipitaion (IP)	38851743
MIRT822778	hsa-let-7a	CLIP-seq
MIRT822779	hsa-let-7b	CLIP-seq
MIRT822780	hsa-let-7c	CLIP-seq
MIRT822781	hsa-let-7d	CLIP-seq
MIRT822782	hsa-let-7e	CLIP-seq
MIRT822783	hsa-let-7f	CLIP-seq
MIRT822784	hsa-let-7g	CLIP-seq
MIRT822785	hsa-let-7i	CLIP-seq
MIRT822786	hsa-miR-105	CLIP-seq
MIRT822787	hsa-miR-1266	CLIP-seq
MIRT822788	hsa-miR-1278	CLIP-seq
MIRT822789	hsa-miR-202	CLIP-seq
MIRT822790	hsa-miR-216a	CLIP-seq
MIRT822791	hsa-miR-28-3p	CLIP-seq
MIRT822792	hsa-miR-3143	CLIP-seq
MIRT822793	hsa-miR-3160-3p	CLIP-seq
MIRT822794	hsa-miR-3168	CLIP-seq
MIRT822795	hsa-miR-3201	CLIP-seq
MIRT822796	hsa-miR-3664-3p	CLIP-seq
MIRT822797	hsa-miR-371-5p	CLIP-seq
MIRT822798	hsa-miR-371b-5p	CLIP-seq
MIRT822799	hsa-miR-3927	CLIP-seq
MIRT822800	hsa-miR-4280	CLIP-seq
MIRT822801	hsa-miR-4436a	CLIP-seq
MIRT822802	hsa-miR-4458	CLIP-seq
MIRT822803	hsa-miR-4487	CLIP-seq
MIRT822804	hsa-miR-4500	CLIP-seq
MIRT822805	hsa-miR-4518	CLIP-seq
MIRT822806	hsa-miR-4524	CLIP-seq
MIRT822807	hsa-miR-4643	CLIP-seq
MIRT822808	hsa-miR-4650-3p	CLIP-seq
MIRT822809	hsa-miR-4659a-3p	CLIP-seq
MIRT822810	hsa-miR-4659b-3p	CLIP-seq
MIRT822811	hsa-miR-466	CLIP-seq
MIRT822812	hsa-miR-4700-3p	CLIP-seq
MIRT822813	hsa-miR-4724-5p	CLIP-seq
MIRT822814	hsa-miR-4753-3p	CLIP-seq
MIRT822815	hsa-miR-4766-5p	CLIP-seq
MIRT822816	hsa-miR-4789-3p	CLIP-seq
MIRT822817	hsa-miR-4791	CLIP-seq
MIRT822818	hsa-miR-488	CLIP-seq
MIRT822819	hsa-miR-499-3p	CLIP-seq
MIRT822820	hsa-miR-520d-5p	CLIP-seq
MIRT822821	hsa-miR-524-5p	CLIP-seq
MIRT822822	hsa-miR-543	CLIP-seq
MIRT822823	hsa-miR-548c-3p	CLIP-seq
MIRT822824	hsa-miR-548m	CLIP-seq
MIRT822825	hsa-miR-548v	CLIP-seq
MIRT822826	hsa-miR-556-5p	CLIP-seq
MIRT822827	hsa-miR-558	CLIP-seq
MIRT822828	hsa-miR-889	CLIP-seq
MIRT822829	hsa-miR-942	CLIP-seq
MIRT822830	hsa-miR-98	CLIP-seq
MIRT1545762	hsa-miR-4422	CLIP-seq
MIRT822778	hsa-let-7a	CLIP-seq
MIRT822779	hsa-let-7b	CLIP-seq
MIRT822780	hsa-let-7c	CLIP-seq
MIRT822781	hsa-let-7d	CLIP-seq
MIRT822782	hsa-let-7e	CLIP-seq
MIRT822783	hsa-let-7f	CLIP-seq
MIRT822784	hsa-let-7g	CLIP-seq
MIRT822785	hsa-let-7i	CLIP-seq
MIRT1943196	hsa-miR-101	CLIP-seq
MIRT822786	hsa-miR-105	CLIP-seq
MIRT1943197	hsa-miR-1262	CLIP-seq
MIRT1943198	hsa-miR-1270	CLIP-seq
MIRT756477	hsa-miR-139-5p	CLIP-seq
MIRT1943199	hsa-miR-144	CLIP-seq
MIRT1943200	hsa-miR-185	CLIP-seq
MIRT822789	hsa-miR-202	CLIP-seq
MIRT1943201	hsa-miR-2392	CLIP-seq
MIRT1943202	hsa-miR-297	CLIP-seq
MIRT822793	hsa-miR-3160-3p	CLIP-seq
MIRT1943203	hsa-miR-3160-5p	CLIP-seq
MIRT1943204	hsa-miR-3161	CLIP-seq
MIRT1943205	hsa-miR-3185	CLIP-seq
MIRT822795	hsa-miR-3201	CLIP-seq
MIRT1943206	hsa-miR-3605-5p	CLIP-seq
MIRT1943207	hsa-miR-3910	CLIP-seq
MIRT822799	hsa-miR-3927	CLIP-seq
MIRT1943208	hsa-miR-3929	CLIP-seq
MIRT1943209	hsa-miR-410	CLIP-seq
MIRT1943210	hsa-miR-4289	CLIP-seq
MIRT1943211	hsa-miR-4306	CLIP-seq
MIRT1943212	hsa-miR-4419b	CLIP-seq
MIRT1545762	hsa-miR-4422	CLIP-seq
MIRT822802	hsa-miR-4458	CLIP-seq
MIRT1943213	hsa-miR-4478	CLIP-seq
MIRT1943214	hsa-miR-4481	CLIP-seq
MIRT822803	hsa-miR-4487	CLIP-seq
MIRT822804	hsa-miR-4500	CLIP-seq
MIRT1943215	hsa-miR-450b-5p	CLIP-seq
MIRT1943216	hsa-miR-4531	CLIP-seq
MIRT822807	hsa-miR-4643	CLIP-seq
MIRT1943217	hsa-miR-4644	CLIP-seq
MIRT1943218	hsa-miR-4645-3p	CLIP-seq
MIRT822808	hsa-miR-4650-3p	CLIP-seq
MIRT822811	hsa-miR-466	CLIP-seq
MIRT1943219	hsa-miR-4687-3p	CLIP-seq
MIRT1943220	hsa-miR-4701-3p	CLIP-seq
MIRT1943221	hsa-miR-4709-3p	CLIP-seq
MIRT1943222	hsa-miR-4745-5p	CLIP-seq
MIRT1943223	hsa-miR-4773	CLIP-seq
MIRT822816	hsa-miR-4789-3p	CLIP-seq
MIRT1943224	hsa-miR-4789-5p	CLIP-seq
MIRT822817	hsa-miR-4791	CLIP-seq
MIRT822819	hsa-miR-499-3p	CLIP-seq
MIRT1943225	hsa-miR-511	CLIP-seq
MIRT1943226	hsa-miR-514	CLIP-seq
MIRT1943227	hsa-miR-514b-3p	CLIP-seq
MIRT1943228	hsa-miR-517b	CLIP-seq
MIRT1943229	hsa-miR-518a-5p	CLIP-seq
MIRT822820	hsa-miR-520d-5p	CLIP-seq
MIRT822821	hsa-miR-524-5p	CLIP-seq
MIRT1943230	hsa-miR-527	CLIP-seq
MIRT1943231	hsa-miR-548a-5p	CLIP-seq
MIRT1943232	hsa-miR-548aa	CLIP-seq
MIRT1943233	hsa-miR-548ab	CLIP-seq
MIRT1943234	hsa-miR-548ac	CLIP-seq
MIRT1943235	hsa-miR-548ae	CLIP-seq
MIRT1943236	hsa-miR-548aj	CLIP-seq
MIRT1943237	hsa-miR-548ak	CLIP-seq
MIRT1943238	hsa-miR-548am	CLIP-seq
MIRT1943239	hsa-miR-548an	CLIP-seq
MIRT1943240	hsa-miR-548b-5p	CLIP-seq
MIRT1943241	hsa-miR-548c-5p	CLIP-seq
MIRT1943242	hsa-miR-548d-3p	CLIP-seq
MIRT1943243	hsa-miR-548d-5p	CLIP-seq
MIRT1943244	hsa-miR-548h	CLIP-seq
MIRT1943245	hsa-miR-548i	CLIP-seq
MIRT1943246	hsa-miR-548j	CLIP-seq
MIRT822824	hsa-miR-548m	CLIP-seq
MIRT1943247	hsa-miR-548w	CLIP-seq
MIRT1943248	hsa-miR-548x	CLIP-seq
MIRT1943249	hsa-miR-548y	CLIP-seq
MIRT1943250	hsa-miR-548z	CLIP-seq
MIRT822826	hsa-miR-556-5p	CLIP-seq
MIRT822827	hsa-miR-558	CLIP-seq
MIRT1943251	hsa-miR-559	CLIP-seq
MIRT1943252	hsa-miR-567	CLIP-seq
MIRT1943253	hsa-miR-620	CLIP-seq
MIRT822830	hsa-miR-98	CLIP-seq
MIRT822778	hsa-let-7a	CLIP-seq
MIRT822779	hsa-let-7b	CLIP-seq
MIRT822780	hsa-let-7c	CLIP-seq
MIRT822781	hsa-let-7d	CLIP-seq
MIRT822782	hsa-let-7e	CLIP-seq
MIRT822783	hsa-let-7f	CLIP-seq
MIRT822784	hsa-let-7g	CLIP-seq
MIRT822785	hsa-let-7i	CLIP-seq
MIRT1943196	hsa-miR-101	CLIP-seq
MIRT822787	hsa-miR-1266	CLIP-seq
MIRT756477	hsa-miR-139-5p	CLIP-seq
MIRT1943199	hsa-miR-144	CLIP-seq
MIRT2181985	hsa-miR-15a	CLIP-seq
MIRT2181986	hsa-miR-15b	CLIP-seq
MIRT2181987	hsa-miR-16	CLIP-seq
MIRT2181988	hsa-miR-1914	CLIP-seq
MIRT2181989	hsa-miR-195	CLIP-seq
MIRT822789	hsa-miR-202	CLIP-seq
MIRT1943201	hsa-miR-2392	CLIP-seq
MIRT822793	hsa-miR-3160-3p	CLIP-seq
MIRT822795	hsa-miR-3201	CLIP-seq
MIRT2181990	hsa-miR-3606	CLIP-seq
MIRT2181991	hsa-miR-3647-5p	CLIP-seq
MIRT822796	hsa-miR-3664-3p	CLIP-seq
MIRT822799	hsa-miR-3927	CLIP-seq
MIRT1943208	hsa-miR-3929	CLIP-seq
MIRT2181992	hsa-miR-424	CLIP-seq
MIRT1943212	hsa-miR-4419b	CLIP-seq
MIRT1545762	hsa-miR-4422	CLIP-seq
MIRT822802	hsa-miR-4458	CLIP-seq
MIRT1943213	hsa-miR-4478	CLIP-seq
MIRT2181993	hsa-miR-448	CLIP-seq
MIRT822803	hsa-miR-4487	CLIP-seq
MIRT822804	hsa-miR-4500	CLIP-seq
MIRT822805	hsa-miR-4518	CLIP-seq
MIRT822806	hsa-miR-4524	CLIP-seq
MIRT822807	hsa-miR-4643	CLIP-seq
MIRT822808	hsa-miR-4650-3p	CLIP-seq
MIRT822811	hsa-miR-466	CLIP-seq
MIRT1943219	hsa-miR-4687-3p	CLIP-seq
MIRT822815	hsa-miR-4766-5p	CLIP-seq
MIRT822816	hsa-miR-4789-3p	CLIP-seq
MIRT822817	hsa-miR-4791	CLIP-seq
MIRT2181994	hsa-miR-497	CLIP-seq
MIRT822819	hsa-miR-499-3p	CLIP-seq
MIRT2181995	hsa-miR-503	CLIP-seq
MIRT1943229	hsa-miR-518a-5p	CLIP-seq
MIRT822820	hsa-miR-520d-5p	CLIP-seq
MIRT822821	hsa-miR-524-5p	CLIP-seq
MIRT1943230	hsa-miR-527	CLIP-seq
MIRT1943231	hsa-miR-548a-5p	CLIP-seq
MIRT1943232	hsa-miR-548aa	CLIP-seq
MIRT1943233	hsa-miR-548ab	CLIP-seq
MIRT1943237	hsa-miR-548ak	CLIP-seq
MIRT1943240	hsa-miR-548b-5p	CLIP-seq
MIRT1943241	hsa-miR-548c-5p	CLIP-seq
MIRT1943243	hsa-miR-548d-5p	CLIP-seq
MIRT1943244	hsa-miR-548h	CLIP-seq
MIRT1943245	hsa-miR-548i	CLIP-seq
MIRT1943246	hsa-miR-548j	CLIP-seq
MIRT822824	hsa-miR-548m	CLIP-seq
MIRT1943247	hsa-miR-548w	CLIP-seq
MIRT1943249	hsa-miR-548y	CLIP-seq
MIRT822826	hsa-miR-556-5p	CLIP-seq
MIRT822827	hsa-miR-558	CLIP-seq
MIRT1943251	hsa-miR-559	CLIP-seq
MIRT2181996	hsa-miR-646	CLIP-seq
MIRT822830	hsa-miR-98	CLIP-seq
MIRT2384819	hsa-miR-3162-5p	CLIP-seq
MIRT2384820	hsa-miR-412	CLIP-seq
MIRT2384821	hsa-miR-4457	CLIP-seq
MIRT1943225	hsa-miR-511	CLIP-seq
MIRT2384822	hsa-miR-513b	CLIP-seq
MIRT2676022	hsa-miR-1273g	CLIP-seq
MIRT2676023	hsa-miR-323-5p	CLIP-seq
MIRT2676024	hsa-miR-3613-3p	CLIP-seq
MIRT2676025	hsa-miR-522	CLIP-seq
MIRT2676026	hsa-miR-563	CLIP-seq
MIRT2676027	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IMP	24882581
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001880	Process	Mullerian duct regression	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003161	Process	Cardiac conduction system development	ISS
GO:0003171	Process	Atrioventricular valve development	IEA
GO:0003171	Process	Atrioventricular valve development	ISS
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003183	Process	Mitral valve morphogenesis	ISS
GO:0003186	Process	Tricuspid valve morphogenesis	IEA
GO:0003186	Process	Tricuspid valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	TAS
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IDA	9136927
GO:0005515	Function	Protein binding	IPI	10881198, 11278302, 15064755, 16127465, 16672363, 18436533, 19229295, 19804412, 20860622, 21054789, 21543859, 21791611, 21976273, 24098149, 24904118, 25938661, 33308444
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15657086
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IMP	15657086
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	15514116, 31800957
GO:0006955	Process	Immune response	IMP	16886151
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	36641752
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	8397373
GO:0007389	Process	Pattern specification process	IEA
GO:0007398	Process	Ectoderm development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IEA
GO:0009897	Component	External side of plasma membrane	IDA	24904118
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	24882581
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010665	Process	Regulation of cardiac muscle cell apoptotic process	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0014912	Process	Negative regulation of smooth muscle cell migration	IMP	18667463
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8397373
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021998	Process	Neural plate mediolateral regionalization	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IDA	25711193
GO:0030324	Process	Lung development	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 31800957
GO:0030509	Process	BMP signaling pathway	IDA	9389648, 12065756, 18436533, 24904118
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	24882581
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030509	Process	BMP signaling pathway	TAS
GO:0032915	Process	Positive regulation of transforming growth factor beta2 production	IEA
GO:0032915	Process	Positive regulation of transforming growth factor beta2 production	ISS
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036122	Function	BMP binding	IEA
GO:0036122	Function	BMP binding	IPI	18184661
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	18436533
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18667463
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0048352	Process	Paraxial mesoderm structural organization	IEA
GO:0048368	Process	Lateral mesoderm development	IEA
GO:0048378	Process	Regulation of lateral mesodermal cell fate specification	IEA
GO:0048382	Process	Mesendoderm development	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048568	Process	Embryonic organ development	ISS
GO:0048589	Process	Developmental growth	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0051148	Process	Negative regulation of muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060043	Process	Regulation of cardiac muscle cell proliferation	IEA
GO:0060043	Process	Regulation of cardiac muscle cell proliferation	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	9389648, 24904118
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	24882581
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060896	Process	Neural plate pattern specification	IEA
GO:0060914	Process	Heart formation	IEA
GO:0060928	Process	Atrioventricular node cell development	IEA
GO:0060928	Process	Atrioventricular node cell development	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
GO:0098821	Function	BMP receptor activity	ISS
GO:1900006	Process	Positive regulation of dendrite development	NAS	9759503
GO:1900006	Process	Positive regulation of dendrite development	TAS	11580864
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1904414	Process	Positive regulation of cardiac ventricle development	IEA
GO:1904414	Process	Positive regulation of cardiac ventricle development	ISS
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	18667463
GO:1905285	Process	Fibrous ring of heart morphogenesis	IEA
GO:1905285	Process	Fibrous ring of heart morphogenesis	ISS
GO:1905292	Process	Regulation of neural crest cell differentiation	ISS
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IDA	24312319
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IDA	12368913
GO:1990712	Component	HFE-transferrin receptor complex	IC	24904118
GO:1990712	Component	HFE-transferrin receptor complex	IEA
GO:2000772	Process	Regulation of cellular senescence	IEA

Other IDs

• MIM: 601299
• HGNC: 1076
• e!Ensembl: ENSG00000107779

Protein

• UniProt ID: P36894
• Protein name: Bone morphogenetic protein receptor type-1A (BMP type-1A receptor) (BMPR-1A) (EC 2.7.11.30) (Activin receptor-like kinase 3) (ALK-3) (Serine/threonine-protein kinase receptor R5) (SKR5) (CD antigen CD292)
• Protein function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans
• PDB: 1ES7, 1REW, 2GOO, 2H62, 2H64, 2K3G, 2QJ9, 2QJA, 2QJB, 3NH7, 3QB4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01064	Activin_recp	59 → 134	Activin types I and II receptor domain	Domain
  PF08515	TGF_beta_GS	205 → 232	Transforming growth factor beta type I GS-motif	Family
  PF07714	PK_Tyr_Ser-Thr	234 → 521	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle.
• Sequence:

  MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
  CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
  TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
  KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
  GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
  SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
  RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
  HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
  PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI

• Sequence length: 532

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis

Reactome:

Signaling by BMP

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
BMPR1A-Related Polyposis Syndrome	Pathogenic	rs587782682	RCV005250019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs1564715427	RCV005901633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic	rs2539351347	RCV005937407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic; Pathogenic	rs587782494, rs587782682, rs587783038, rs764466442, rs786202611, rs786204187, rs878854673, rs1131691181, rs1554886816, rs1554888970, rs1564673999, rs1564714834, rs1589763343, rs1589763393, rs771910503, rs1315674155, rs1843700160	RCV005600736 RCV000475579 RCV000144578 RCV000461272 RCV000463942 RCV000168250 RCV000227192 RCV000779843 RCV000635432 RCV000635455 RCV000692917 RCV000755041 RCV000798986 RCV000797951 RCV000988405 RCV001257403 RCV001258058	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2133594398, rs2133395056, rs2133454296, rs750011688, rs2133592586, rs2133607319, rs2133622305, rs587781407, rs587781928, rs587782388, rs587782400, rs587782494, rs587782536, rs587782682, rs2539491393, rs2539623339, rs2539490085, rs730881431, rs2539571683, rs2539572767, rs2539604404, rs2539617330, rs2133607510, rs2539431097, rs2539602631, rs2539603621, rs2133619953, rs2539620157, rs786203157, rs786201038, rs786201501, rs786201715, rs199476089, rs764466442, rs786202611, rs786201040, rs2539638420, rs1589293533, rs876658515, rs2539621087, rs1564710631, rs1554888317, rs2539446223, rs2539430767, rs754180012, rs2133408741, rs869312758, rs869312783, rs199476085, rs199476086, rs199476087, rs759647230, rs876658891, rs876660442, rs876658573, rs876659988, rs878854664, rs2539628994, rs1589291527, rs2539603948, rs770387084, rs2133453431, rs2539647790, rs1392086533, rs1842918323, rs2539350478, rs2539602354, rs1060503408, rs1060503409, rs1064794031, rs759363072, rs1131691171, rs1131691174, rs1131691183, rs1131691173, rs1131691180, rs1131691179, rs1131691178, rs1131691176, rs1131691172, rs1131691185, rs1131691182, rs1131691167, rs1131691184, rs1131691181, rs1131691175, rs1554886821, rs1554890743, rs1554890213, rs1554888329, rs1554891331, rs149787558, rs1554888134, rs1554891044, rs1554891102, rs1554888310, rs878854667, rs1554891016, rs1554891075, rs1554891077, rs1554891089, rs1554891570, rs1554890734, rs1554886816, rs1554891056, rs1564714804, rs1564721929, rs1564722014, rs1564714834, rs1413243663, rs1564724278, rs1589290813, rs1589290779, rs1589291548, rs1589291774, rs1589288524, rs1589292553, rs1230919713, rs1843283551, rs1843664957, rs1843128744	RCV005520519 RCV002377580 RCV002377573 RCV001804500 RCV002407176 RCV004040656 RCV004603111 RCV000129262 RCV000130286 RCV000131396 RCV000131433 RCV000131622 RCV000131740 RCV000132109 RCV002327778 RCV002320933 RCV002452480 RCV000493126 RCV002346894 RCV002353408 RCV002416819 RCV002373732 RCV002373469 RCV002376529 RCV002364682 RCV002400451 RCV002383330 RCV002387415 RCV000166343 RCV000162393 RCV000163765 RCV000164147 RCV002389450 RCV000162430 RCV000165505 RCV000162419 RCV002385717 RCV002396962 RCV002394302 RCV002394311 RCV002426220 RCV002439474 RCV002441971 RCV002437923 RCV002435772 RCV002435586 RCV000210125 RCV000210116 RCV004018591 RCV000566713 RCV000165949 RCV000214108 RCV000218016 RCV000214964 RCV000215661 RCV000222176 RCV000494677 RCV003214007 RCV003297378 RCV006368156 RCV004604939 RCV004604940 RCV003384166 RCV005784405 RCV005784408 RCV004516714 RCV004516726 RCV001019195 RCV001019405 RCV000493948 RCV000850053 RCV000492794 RCV000494227 RCV000494685 RCV000492863 RCV000494501 RCV000493348 RCV000492867 RCV000494036 RCV000493870 RCV000493050 RCV000494378 RCV000494258 RCV000492964 RCV000493671 RCV000493517 RCV000493497 RCV002358416 RCV001025874 RCV004601198 RCV000565507 RCV000567347 RCV000573819 RCV000571812 RCV000574255 RCV000570399 RCV000563459 RCV000563858 RCV000574493 RCV000573228 RCV000567580 RCV000569696 RCV000564091 RCV000569032 RCV000569373 RCV000583365 RCV000583582 RCV002331136 RCV001019834 RCV005401585 RCV002343462 RCV002360755 RCV001013096 RCV000777502 RCV000776619 RCV005782037 RCV001805874 RCV001021627 RCV001027314 RCV001018767 RCV001017265 RCV001023905 RCV001025624 RCV001017501 RCV001011770 RCV004950145 RCV002327250 RCV001186142 RCV006372210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Pathogenic; Likely pathogenic	rs1843697382, rs2133594398, rs2133395056, rs2133395477, rs2133454296, rs762900005, rs2133577022, rs2133593569, rs2133594187, rs2133592586, rs2133453577, rs2133607319, rs2133622305, rs2133592454, rs2133394533, rs2133593245, rs2133620284, rs2133606135, rs2133589910, rs2133457292, rs2133577213, rs2133619660, rs2133458164, rs2133409163, rs587781928, rs2133591810, rs587782388, rs587782400, rs587782494, rs587782682, rs2133623802, rs2133593716, rs2539491393, rs730881431, rs2133607510, rs2539431097, rs2539603621, rs2133619953, rs786203157, rs786201038, rs786201501, rs764466442, rs786202611, rs786201040, rs2539638420, rs1564710631, rs2539430767, rs786204187, rs2539493292, rs2539496182, rs2539489295, rs2539432575, rs2539489532, rs2539635370, rs2539490085, rs2539603429, rs869312758, rs199476084, rs199476085, rs199476086, rs199476087, rs199476088, rs876660442, rs876658573, rs878854672, rs878854673, rs878854664, rs1589291527, rs2539573512, rs1060503409, rs2539620949, rs2539650152, rs2539574831, rs2539446205, rs2539572909, rs2539603948, rs2539491669, rs2539619596, rs2539432372, rs2539621197, rs2539623227, rs2539648971, rs2539637246, rs1564722014, rs2539431847, rs2539637091, rs770387084, rs2539602383, rs1589292746, rs2539636515, rs2539574006, rs2539445569, rs2133607689, rs2539636034, rs1843283551, rs2133591953, rs2133453431, rs730881435, rs2539493276, rs2539648615, rs2539494737, rs2539431082, rs2539623320, rs2539623369, rs2539605284, rs2539620708, rs2539494661, rs2539495592, rs1392086533, rs1842918323, rs774357141, rs2539351347, rs2539636676, rs2539618159, rs1060503408, rs1064792985, rs1554891032, rs1064794031, rs1064796072, rs759363072, rs1131691183, rs1131691179, rs1131691178, rs1131691176, rs1131691185, rs1131691182, rs1131691181, rs1554886821, rs1554890743, rs1554890219, rs1230919713, rs1554890213, rs1554891043, rs1131691174, rs1554891044, rs1554891075, rs1554891089, rs1554891570, rs1554888317, rs1554886816, rs1554890759, rs1404557708, rs1554888986, rs1554890815, rs1554886815, rs1554891056, rs1564714804, rs1564725052, rs1564714809, rs1564715427, rs1564723486, rs1564724111, rs1564725603, rs1564721929, rs1564714834, rs1564710641, rs1589757037, rs1589764273, rs1589290773, rs1589292655, rs1589290813, rs771910503, rs1589291548, rs1589288524, rs1554890734, rs1589293533, rs1589763427, rs1843627734, rs1843628465, rs1843628914, rs1843621548, rs1843623596, rs1843128744, rs1843664505, rs1843504014, rs1843286694	RCV001317374 RCV001377704 RCV001389462 RCV001383873 RCV001386355 RCV003336865 RCV001388876 RCV001385037 RCV001388656 RCV001994574 RCV001935556 RCV001879623 RCV001953761 RCV001953838 RCV001987985 RCV001927242 RCV001984835 RCV002000068 RCV001953504 RCV001959185 RCV001949591 RCV002040870 RCV001863458 RCV002015852 RCV000705148 RCV001948707 RCV001857461 RCV002228323 RCV000805939 RCV001376601 RCV002221431 RCV002251016 RCV004591899 RCV003458347 RCV005254079 RCV003458860 RCV003336572 RCV003763149 RCV002228592 RCV002228545 RCV003335153 RCV001376615 RCV002228745 RCV001059053 RCV003094969 RCV003336741 RCV003336752 RCV001387724 RCV003037349 RCV002741635 RCV002791961 RCV002837950 RCV002893908 RCV002877591 RCV003009459 RCV003015750 RCV003042075 RCV003335228 RCV001797976 RCV001797977 RCV001797978 RCV001797979 RCV001797980 RCV002229316 RCV001365751 RCV001379310 RCV001389131 RCV002229355 RCV003761650 RCV003492861 RCV003336864 RCV003336898 RCV003336946 RCV003336989 RCV003337014 RCV003337124 RCV003337175 RCV003337204 RCV003334508 RCV003334535 RCV003334589 RCV003334618 RCV003334623 RCV003334637 RCV003334689 RCV003334717 RCV003334735 RCV003334743 RCV003334986 RCV003335559 RCV003335578 RCV003335598 RCV003335602 RCV003335604 RCV003335641 RCV003335678 RCV003335679 RCV003335683 RCV003335712 RCV003335721 RCV003335748 RCV003388902 RCV003459137 RCV003459142 RCV003596945 RCV003596993 RCV003596994 RCV003597040 RCV003597116 RCV003597168 RCV003762445 RCV003762558 RCV003762609 RCV003763295 RCV003763430 RCV004012651 RCV004442607 RCV004555785 RCV002230188 RCV002230635 RCV002230184 RCV002230632 RCV001851169 RCV003762749 RCV000686857 RCV003335404 RCV003762754 RCV002524003 RCV001386678 RCV002524002 RCV001388665 RCV003762753 RCV002524004 RCV003335451 RCV001381866 RCV000532814 RCV002231347 RCV000554511 RCV002231348 RCV001853815 RCV001858251 RCV001797984 RCV001859983 RCV003458464 RCV002232666 RCV001384310 RCV001376603 RCV002234491 RCV002234483 RCV000635425 RCV002233985 RCV002534254 RCV003336123 RCV000705111 RCV000690555 RCV002233157 RCV002232869 RCV002232848 RCV002233685 RCV002233365 RCV002233542 RCV002233249 RCV003336169 RCV003336171 RCV002235788 RCV002235387 RCV002235580 RCV000795509 RCV000801050 RCV002234978 RCV002234873 RCV002549710 RCV001860926 RCV001047757 RCV002551933 RCV005093083 RCV001046425 RCV001056989 RCV001041170 RCV001065540 RCV001042998 RCV001059177 RCV001036622 RCV001224020 RCV001214931 RCV001204466 RCV001221695 RCV001236411 RCV001385565	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs587782682, rs786202611, rs1131691185	RCV004668800 RCV005230010 RCV006273843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyposis syndrome, hereditary mixed, 2	Pathogenic; Likely pathogenic	rs2133395056, rs764466442, rs1564710631, rs199476087, rs2539619684, rs770387084, rs2539602666, rs2539429929, rs1842918323, rs1060503409, rs1564725603, rs1589288524	RCV000008720 RCV003474839 RCV003475386 RCV003473059 RCV003334435 RCV005047537 RCV003474396 RCV003474397 RCV004573171 RCV003476111 RCV004794444 RCV002466606	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aplasia/Hypoplasia involving the metacarpal bones	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia/Hypoplasia of the phalanges of the hand	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMPR1A-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMPR1A-RELATED JUVENILE POLYPOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMPR1A-related juvenile polyposis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer type X	Benign; Likely benign	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial meningioma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal polyposis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand oligodactyly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic and/or familial pulmonary arterial hypertension	Uncertain significance; not provided; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Polyposis	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palpitations	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Uncertain significance; not provided; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary arterial hypertension associated with another disease	not provided; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension associated with congenital heart disease	not provided; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of duodenum	Adenocarcinoma Of Duodenum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	19773747, 27696107		★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	20971460	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31827527		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	23437350		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	14991070		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31229977		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	25996639, 31493347	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31210286		★☆☆☆☆ Found in Text Mining only
Bannayan-Riley-Ruvalcaba Syndrome	Bannayan-Riley-Ruvalcaba Syndrome	BEFREE	11536076, 22993021		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bmpr1a-Related Juvenile Polyposis	Polyposis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	BEFREE	24098149		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17004110, 26274893, 29495003		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23180569, 34866136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	23531103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30705127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	31229977	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30814609		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31229977	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30705127		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30537181		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18262054, 20345475		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18262054		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	23399955	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26169059, 27662660, 28600700, 29967336		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15026806, 16525031, 16769811, 18262054, 18510548, 21365634, 26900293, 27662660, 27696107, 29967336, 35254413, 36049049	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21387313	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	22067610, 22773757		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22067610, 31229977		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26383923, 30814609		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29522511		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	24127225	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22067610, 26383923		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28641928		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22519633		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31493347	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22776074	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal polyposis	Duodenal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22067610		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	31493347	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31493347	Associate	★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	ORPHANET_DG	21640116		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial colorectal cancer Type X	Colorectal Cancer	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	28660566		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibromatosis, Aggressive	Fibromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Generalized juvenile polyposis/juvenile polyposis coli	Polyposis Coli	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	31998776	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	11536076, 12620973, 16292097, 22993021, 25846706		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	LHGDN	11536076		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	BEFREE	17325551		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28336264	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	31229977, 31493347	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33822054	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21124932	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary mixed polyposis syndrome	Hereditary Mixed Polyposis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24966941	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	24657641, 28607813		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Hyperplastic colonic polyposis	Hyperplastic colonic polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	12571257	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12571257		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18079409		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18510548	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33677096	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	33677096	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	BEFREE	15378062		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	23399955, 23599658, 23805267, 36049049	Associate	★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30227271		★☆☆☆☆ Found in Text Mining only
Juvenile colonic polyposis	Colonic Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyp	Polyp	BEFREE	21412070, 26171675		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	CLINGEN_DG	11381269, 11536076, 15378062, 17325551		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	ORPHANET_DG	18823382		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis of infancy	Polyposis	Orphanet			★☆☆☆☆ Found in Text Mining only
JUVENILE POLYPOSIS OF STOMACH	Juvenile polyposis syndrome	CLINGEN_DG	11381269, 11536076, 15378062, 17325551		★☆☆☆☆ Found in Text Mining only
JUVENILE POLYPOSIS OF STOMACH	Juvenile polyposis syndrome	ORPHANET_DG	18823382		★☆☆☆☆ Found in Text Mining only
JUVENILE POLYPOSIS OF STOMACH	Juvenile polyposis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	CLINVAR_DG	11381269, 11536076, 12136244, 12417513, 15235019, 16436638, 16525031, 18823382, 19438883, 20843829, 21872883, 22067610, 23399955, 23433720, 8397373		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	CLINGEN_DG	11381269, 11536076, 15378062, 17325551		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	11536076, 12136244, 12417513, 12630959, 15235019, 15378062, 17325551, 17573831, 17873119, 18178612, 18262054, 18510548, 18823382, 20101697, 20843829, 21203531, 21465659, 21834858, 22067610, 22171123, 22773757, 22846738, 22993021, 23242522, 23331837, 23433720, 23599658, 25129392, 25389115, 25846706, 26171675, 28600700, 30276464, 30884445, 31229977, 31259752, 31561016		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	UNIPROT_DG	11536076, 12136244, 12417513, 12630959		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	ORPHANET_DG	16685657, 18823382, 22993021, 23331837		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	GENOMICS_ENGLAND_DG	23539595		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leiomyoma	Leiomyoma	Pubtator	21084396	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30262802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30262802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30262802		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22241220, 31334575		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23593444	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23531103	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17004110, 26274893, 29495003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31334575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22045666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17873119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23599658, 25389115, 26171675, 30809968		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18262054, 20345475		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26274893		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	38446374	Associate	★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31586071		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36717825	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11536076, 20334546, 21124932, 21387313, 22045666, 26171675, 26274893, 29495003		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10881198, 11381269, 11536076, 12136244, 12417513, 14734220, 15064755, 15235019, 16436638, 17873119, 18178612, 18262054, 18823382, 22799562, 23399955, 23433720, 28944238, 9371495		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	30884445		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19773747		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25153496		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33677096	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30276464		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19502417, 29040444		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19502417	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24894724	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31769494		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19773747		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23243014		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	28600700		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	Hereditary mixed polyposis syndrome	ORPHANET_DG	16525031		★☆☆☆☆ Found in Text Mining only
Polyposis Syndrome, Hereditary Mixed, 2	Hereditary mixed polyposis syndrome	GENOMICS_ENGLAND_DG	23539595		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polyposis Syndrome, Hereditary Mixed, 2	Hereditary mixed polyposis syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polyposis, Gastric	Gastric polyposis	BEFREE	12136244		★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22045666		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	BEFREE	28434922		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18079409		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19324947	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21387313		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal polyp	Rectal Polyp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Smad4-Related Juvenile Polyposis	Polyposis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33410269	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23736260		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17873119		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31949278	Associate	★☆☆☆☆ Found in Text Mining only
Subcutaneous lipoma	Subcutaneous lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
VATER association	Vacterl association	Pubtator	36049049	Associate	★☆☆☆☆ Found in Text Mining only