ACVRL1 (activin A receptor like type 1)

Gene

• Entrez ID: 94
• Gene name: Activin A receptor like type 1
• Gene symbol: ACVRL1
• Synonyms (NCBI Gene): ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) pre

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936399	T>G	Pathogenic	Missense variant, coding sequence variant
rs28936401	C>A,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs28936687	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs28936688	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs76038779	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant
rs111710113	C>G,T	Benign, pathogenic	Intron variant
rs121909284	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121909285	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs121909286	T>A	Pathogenic	Coding sequence variant, missense variant
rs121909287	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909288	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909289	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs138048445	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs139142865	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs141764916	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs143735377	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs148057374	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs149664056	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs267606632	G>A	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs387906391	CTC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs387906392	GGGCC>AGCCT	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs387906393	GAC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs387906394	->G	Pathogenic	Frameshift variant, coding sequence variant
rs556168617	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, 5 prime UTR variant, stop gained
rs753792569	A>C	Likely-benign, pathogenic	Missense variant, coding sequence variant, intron variant
rs757645341	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs758683062	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant
rs762773076	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs775754117	C>G,T	Pathogenic	Stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant
rs779485996	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs863223406	G>A	Pathogenic	Splice donor variant
rs863223408	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863223409	G>A	Pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs863223410	G>A,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs863223412	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863223413	G>T	Pathogenic	Missense variant, coding sequence variant
rs863223414	G>A,C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs863223415	G>-,GG	Pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant
rs863223416	GGTG>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs863223417	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs863223418	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043123	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs959973779	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs962224649	T>C,G	Pathogenic	5 prime UTR variant, stop gained, synonymous variant, coding sequence variant
rs999380946	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1057517944	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057519168	->GGGAGTGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521203	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1060503235	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060503236	->T	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1060503237	G>A	Likely-pathogenic	Splice acceptor variant
rs1060503240	TG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1060503241	C>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1060503242	G>A	Likely-pathogenic	Splice acceptor variant
rs1060503245	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503246	G>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1060503248	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1060503249	G>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1064794217	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1064794791	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064796070	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796530	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307404	C>-	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1085307405	C>T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1085307406	A>G	Uncertain-significance, pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1085307407	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1085307408	A>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1085307409	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307410	C>T	Pathogenic	Missense variant, coding sequence variant
rs1085307411	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307412	C>G	Pathogenic	Missense variant, coding sequence variant
rs1085307413	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307414	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1085307415	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1085307416	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1085307417	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307418	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307419	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1085307420	A>T	Pathogenic	Missense variant, coding sequence variant
rs1085307421	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1085307422	C>G	Pathogenic	Stop gained, coding sequence variant
rs1085307423	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307424	C>-	Pathogenic	Stop gained, coding sequence variant
rs1085307425	C>A	Pathogenic	Missense variant, coding sequence variant
rs1085307426	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1085307427	C>TG	Pathogenic	Frameshift variant, coding sequence variant
rs1085307428	A>C	Pathogenic	Missense variant, coding sequence variant
rs1085307429	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307872	GTGTC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131691286	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691346	A>G	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1131691686	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1301762186	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1318118188	G>A,T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1318446539	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1555152345	C>T	Pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1555152440	->T	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1555152447	G>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1555152455	->CG	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1555152520	T>C,G	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555152526	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555152548	G>T	Pathogenic	Splice donor variant
rs1555152650	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant
rs1555152710	G>A	Pathogenic	Splice donor variant, intron variant
rs1555152771	ACTG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555152774	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555152786	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555152790	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1555152796	C>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1555152815	G>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555152899	C>G	Pathogenic	Intron variant
rs1555152909	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555152935	GTC>AG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555152955	CA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555152966	G>A	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555153077	->AGCACGCAGCTGT	Pathogenic	Stop gained, coding sequence variant
rs1555153126	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1555153131	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555153133	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555153172	T>G	Likely-pathogenic	Splice donor variant
rs1555153277	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555153354	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555153382	T>C	Likely-pathogenic	Splice donor variant
rs1555153796	TCGTGGAGGACTATAGACCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555153828	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555153830	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1555153848	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555153854	T>G	Pathogenic	Splice donor variant
rs1565593274	G>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1565593639	T>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1565594157	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565594238	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565594311	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565594524	ATCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565594536	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565594547	G>C	Pathogenic	Missense variant, coding sequence variant
rs1565594920	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565594969	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565595009	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565595121	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1565595129	G>T	Pathogenic	Missense variant, coding sequence variant
rs1565595176	G>A	Pathogenic	Splice donor variant
rs1565596498	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565596508	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1592221459	GAAGCCGT>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1592221728	C>T	Pathogenic	Genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs1592221830	->G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1592221930	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1592222308	C>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1592223028	T>C,G	Pathogenic	Intron variant, splice donor variant
rs1592223392	T>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1592223399	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1592223964	C>G	Likely-pathogenic	Intron variant
rs1592224087	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592224291	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592224349	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1592224412	T>C	Pathogenic	Missense variant, coding sequence variant
rs1592225112	G>A	Pathogenic	Missense variant, coding sequence variant
rs1592228303	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT715923	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT715922	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT715921	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT715920	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT715919	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT715918	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT715917	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715916	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT715915	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715914	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715913	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT715912	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715911	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT715923	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT715922	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT715921	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT715920	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT715919	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT715918	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT715917	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715916	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT715915	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715914	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715913	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT715912	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715911	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT765583	hsa-let-7a	CLIP-seq
MIRT765584	hsa-let-7b	CLIP-seq
MIRT765585	hsa-let-7c	CLIP-seq
MIRT765586	hsa-let-7d	CLIP-seq
MIRT765587	hsa-let-7e	CLIP-seq
MIRT765588	hsa-let-7f	CLIP-seq
MIRT765589	hsa-let-7g	CLIP-seq
MIRT765590	hsa-let-7i	CLIP-seq
MIRT765591	hsa-miR-105	CLIP-seq
MIRT765592	hsa-miR-106a	CLIP-seq
MIRT765593	hsa-miR-106b	CLIP-seq
MIRT765594	hsa-miR-1185	CLIP-seq
MIRT765595	hsa-miR-1207-5p	CLIP-seq
MIRT765596	hsa-miR-1227	CLIP-seq
MIRT765597	hsa-miR-1228	CLIP-seq
MIRT765598	hsa-miR-1538	CLIP-seq
MIRT765599	hsa-miR-17	CLIP-seq
MIRT765600	hsa-miR-1827	CLIP-seq
MIRT765601	hsa-miR-1909	CLIP-seq
MIRT765602	hsa-miR-202	CLIP-seq
MIRT765603	hsa-miR-203	CLIP-seq
MIRT765604	hsa-miR-205	CLIP-seq
MIRT765605	hsa-miR-20a	CLIP-seq
MIRT765606	hsa-miR-20b	CLIP-seq
MIRT765607	hsa-miR-24	CLIP-seq
MIRT765608	hsa-miR-3122	CLIP-seq
MIRT765609	hsa-miR-3130-5p	CLIP-seq
MIRT765610	hsa-miR-3160-3p	CLIP-seq
MIRT765611	hsa-miR-3160-5p	CLIP-seq
MIRT765612	hsa-miR-3163	CLIP-seq
MIRT765613	hsa-miR-338-3p	CLIP-seq
MIRT765614	hsa-miR-342-3p	CLIP-seq
MIRT765615	hsa-miR-3605-5p	CLIP-seq
MIRT765616	hsa-miR-3622a-3p	CLIP-seq
MIRT765617	hsa-miR-3622b-3p	CLIP-seq
MIRT765618	hsa-miR-3622b-5p	CLIP-seq
MIRT765619	hsa-miR-3679-5p	CLIP-seq
MIRT765620	hsa-miR-3689a-3p	CLIP-seq
MIRT765621	hsa-miR-3689c	CLIP-seq
MIRT765622	hsa-miR-3913-5p	CLIP-seq
MIRT765623	hsa-miR-3925-3p	CLIP-seq
MIRT765624	hsa-miR-3929	CLIP-seq
MIRT765625	hsa-miR-4252	CLIP-seq
MIRT765626	hsa-miR-4284	CLIP-seq
MIRT765627	hsa-miR-4294	CLIP-seq
MIRT765628	hsa-miR-4419b	CLIP-seq
MIRT765629	hsa-miR-4433	CLIP-seq
MIRT765630	hsa-miR-4435	CLIP-seq
MIRT765631	hsa-miR-4458	CLIP-seq
MIRT765632	hsa-miR-4459	CLIP-seq
MIRT765633	hsa-miR-4478	CLIP-seq
MIRT765634	hsa-miR-4482	CLIP-seq
MIRT765635	hsa-miR-4487	CLIP-seq
MIRT765636	hsa-miR-4500	CLIP-seq
MIRT765637	hsa-miR-450b-3p	CLIP-seq
MIRT765638	hsa-miR-4634	CLIP-seq
MIRT765639	hsa-miR-4649-3p	CLIP-seq
MIRT765640	hsa-miR-4652-3p	CLIP-seq
MIRT765641	hsa-miR-4668-3p	CLIP-seq
MIRT765642	hsa-miR-4701-5p	CLIP-seq
MIRT765643	hsa-miR-4713-3p	CLIP-seq
MIRT765644	hsa-miR-4715-3p	CLIP-seq
MIRT765645	hsa-miR-4720-5p	CLIP-seq
MIRT765646	hsa-miR-4728-5p	CLIP-seq
MIRT765647	hsa-miR-4745-3p	CLIP-seq
MIRT765648	hsa-miR-4746-3p	CLIP-seq
MIRT765649	hsa-miR-4747-3p	CLIP-seq
MIRT765650	hsa-miR-4755-3p	CLIP-seq
MIRT765651	hsa-miR-4763-3p	CLIP-seq
MIRT765652	hsa-miR-4768-3p	CLIP-seq
MIRT765653	hsa-miR-4786-5p	CLIP-seq
MIRT765654	hsa-miR-4792	CLIP-seq
MIRT765655	hsa-miR-4799-3p	CLIP-seq
MIRT765656	hsa-miR-485-5p	CLIP-seq
MIRT765657	hsa-miR-500a	CLIP-seq
MIRT765658	hsa-miR-5096	CLIP-seq
MIRT765659	hsa-miR-513a-3p	CLIP-seq
MIRT765660	hsa-miR-519a	CLIP-seq
MIRT765661	hsa-miR-519b-3p	CLIP-seq
MIRT765662	hsa-miR-519c-3p	CLIP-seq
MIRT765663	hsa-miR-519d	CLIP-seq
MIRT765664	hsa-miR-520g	CLIP-seq
MIRT765665	hsa-miR-520h	CLIP-seq
MIRT765666	hsa-miR-544b	CLIP-seq
MIRT765667	hsa-miR-548t	CLIP-seq
MIRT765668	hsa-miR-558	CLIP-seq
MIRT765669	hsa-miR-588	CLIP-seq
MIRT765670	hsa-miR-634	CLIP-seq
MIRT765671	hsa-miR-638	CLIP-seq
MIRT765672	hsa-miR-766	CLIP-seq
MIRT765673	hsa-miR-769-3p	CLIP-seq
MIRT765674	hsa-miR-93	CLIP-seq
MIRT765675	hsa-miR-936	CLIP-seq
MIRT765676	hsa-miR-98	CLIP-seq
MIRT765677	hsa-miR-1293	CLIP-seq
MIRT765678	hsa-miR-3150b-3p	CLIP-seq
MIRT765611	hsa-miR-3160-5p	CLIP-seq
MIRT765679	hsa-miR-3175	CLIP-seq
MIRT765680	hsa-miR-3652	CLIP-seq
MIRT765681	hsa-miR-3915	CLIP-seq
MIRT765682	hsa-miR-412	CLIP-seq
MIRT765683	hsa-miR-4420	CLIP-seq
MIRT765684	hsa-miR-4430	CLIP-seq
MIRT765685	hsa-miR-4483	CLIP-seq
MIRT765686	hsa-miR-4659a-3p	CLIP-seq
MIRT765687	hsa-miR-4659b-3p	CLIP-seq
MIRT765688	hsa-miR-4689	CLIP-seq
MIRT765689	hsa-miR-4706	CLIP-seq
MIRT765690	hsa-miR-4742-3p	CLIP-seq
MIRT765691	hsa-miR-4749-5p	CLIP-seq
MIRT765692	hsa-miR-4781-5p	CLIP-seq
MIRT765693	hsa-miR-4784	CLIP-seq
MIRT765694	hsa-miR-4793-3p	CLIP-seq
MIRT765695	hsa-miR-647	CLIP-seq
MIRT765696	hsa-miR-653	CLIP-seq
MIRT1545078	hsa-miR-1252	CLIP-seq
MIRT1545079	hsa-miR-3148	CLIP-seq
MIRT1925644	hsa-miR-146b-3p	CLIP-seq
MIRT765583	hsa-let-7a	CLIP-seq
MIRT765584	hsa-let-7b	CLIP-seq
MIRT765585	hsa-let-7c	CLIP-seq
MIRT765586	hsa-let-7d	CLIP-seq
MIRT765587	hsa-let-7e	CLIP-seq
MIRT765588	hsa-let-7f	CLIP-seq
MIRT765589	hsa-let-7g	CLIP-seq
MIRT765590	hsa-let-7i	CLIP-seq
MIRT765597	hsa-miR-1228	CLIP-seq
MIRT2166985	hsa-miR-1324	CLIP-seq
MIRT2166986	hsa-miR-1343	CLIP-seq
MIRT765601	hsa-miR-1909	CLIP-seq
MIRT765602	hsa-miR-202	CLIP-seq
MIRT2166987	hsa-miR-214	CLIP-seq
MIRT765607	hsa-miR-24	CLIP-seq
MIRT2166988	hsa-miR-2681	CLIP-seq
MIRT765608	hsa-miR-3122	CLIP-seq
MIRT765610	hsa-miR-3160-3p	CLIP-seq
MIRT2166989	hsa-miR-3192	CLIP-seq
MIRT2166990	hsa-miR-335	CLIP-seq
MIRT765614	hsa-miR-342-3p	CLIP-seq
MIRT2166991	hsa-miR-3529	CLIP-seq
MIRT2166992	hsa-miR-3619-5p	CLIP-seq
MIRT765620	hsa-miR-3689a-3p	CLIP-seq
MIRT765621	hsa-miR-3689c	CLIP-seq
MIRT2166993	hsa-miR-379	CLIP-seq
MIRT765622	hsa-miR-3913-5p	CLIP-seq
MIRT2166994	hsa-miR-3927	CLIP-seq
MIRT765624	hsa-miR-3929	CLIP-seq
MIRT765626	hsa-miR-4284	CLIP-seq
MIRT765628	hsa-miR-4419b	CLIP-seq
MIRT765630	hsa-miR-4435	CLIP-seq
MIRT765631	hsa-miR-4458	CLIP-seq
MIRT765633	hsa-miR-4478	CLIP-seq
MIRT2166995	hsa-miR-4492	CLIP-seq
MIRT2166996	hsa-miR-4498	CLIP-seq
MIRT765636	hsa-miR-4500	CLIP-seq
MIRT2166997	hsa-miR-4633-3p	CLIP-seq
MIRT765638	hsa-miR-4634	CLIP-seq
MIRT765639	hsa-miR-4649-3p	CLIP-seq
MIRT765646	hsa-miR-4728-5p	CLIP-seq
MIRT765650	hsa-miR-4755-3p	CLIP-seq
MIRT2166998	hsa-miR-4772-5p	CLIP-seq
MIRT765656	hsa-miR-485-5p	CLIP-seq
MIRT2166999	hsa-miR-486-3p	CLIP-seq
MIRT2167000	hsa-miR-490-3p	CLIP-seq
MIRT2167001	hsa-miR-490-5p	CLIP-seq
MIRT765668	hsa-miR-558	CLIP-seq
MIRT2167002	hsa-miR-761	CLIP-seq
MIRT2167003	hsa-miR-762	CLIP-seq
MIRT765676	hsa-miR-98	CLIP-seq
MIRT765597	hsa-miR-1228	CLIP-seq
MIRT765607	hsa-miR-24	CLIP-seq
MIRT765614	hsa-miR-342-3p	CLIP-seq
MIRT765626	hsa-miR-4284	CLIP-seq
MIRT765630	hsa-miR-4435	CLIP-seq
MIRT765638	hsa-miR-4634	CLIP-seq
MIRT2383875	hsa-miR-4738-3p	CLIP-seq
MIRT765650	hsa-miR-4755-3p	CLIP-seq
MIRT765583	hsa-let-7a	CLIP-seq
MIRT765584	hsa-let-7b	CLIP-seq
MIRT765585	hsa-let-7c	CLIP-seq
MIRT765586	hsa-let-7d	CLIP-seq
MIRT765587	hsa-let-7e	CLIP-seq
MIRT765588	hsa-let-7f	CLIP-seq
MIRT765589	hsa-let-7g	CLIP-seq
MIRT765590	hsa-let-7i	CLIP-seq
MIRT2469486	hsa-miR-10a	CLIP-seq
MIRT2469487	hsa-miR-10b	CLIP-seq
MIRT765597	hsa-miR-1228	CLIP-seq
MIRT2166985	hsa-miR-1324	CLIP-seq
MIRT765602	hsa-miR-202	CLIP-seq
MIRT765604	hsa-miR-205	CLIP-seq
MIRT2469488	hsa-miR-300	CLIP-seq
MIRT765608	hsa-miR-3122	CLIP-seq
MIRT2469489	hsa-miR-3166	CLIP-seq
MIRT765620	hsa-miR-3689a-3p	CLIP-seq
MIRT765621	hsa-miR-3689c	CLIP-seq
MIRT2469490	hsa-miR-381	CLIP-seq
MIRT765622	hsa-miR-3913-5p	CLIP-seq
MIRT765624	hsa-miR-3929	CLIP-seq
MIRT2469491	hsa-miR-3944-5p	CLIP-seq
MIRT765628	hsa-miR-4419b	CLIP-seq
MIRT765631	hsa-miR-4458	CLIP-seq
MIRT765633	hsa-miR-4478	CLIP-seq
MIRT2469492	hsa-miR-4494	CLIP-seq
MIRT765636	hsa-miR-4500	CLIP-seq
MIRT2469493	hsa-miR-4666-3p	CLIP-seq
MIRT765646	hsa-miR-4728-5p	CLIP-seq
MIRT2469494	hsa-miR-4771	CLIP-seq
MIRT2469495	hsa-miR-483-3p	CLIP-seq
MIRT765656	hsa-miR-485-5p	CLIP-seq
MIRT2469496	hsa-miR-545	CLIP-seq
MIRT765676	hsa-miR-98	CLIP-seq
MIRT765583	hsa-let-7a	CLIP-seq
MIRT765584	hsa-let-7b	CLIP-seq
MIRT765585	hsa-let-7c	CLIP-seq
MIRT765586	hsa-let-7d	CLIP-seq
MIRT765587	hsa-let-7e	CLIP-seq
MIRT765588	hsa-let-7f	CLIP-seq
MIRT765589	hsa-let-7g	CLIP-seq
MIRT765590	hsa-let-7i	CLIP-seq
MIRT2469486	hsa-miR-10a	CLIP-seq
MIRT2469487	hsa-miR-10b	CLIP-seq
MIRT765597	hsa-miR-1228	CLIP-seq
MIRT2166985	hsa-miR-1324	CLIP-seq
MIRT765602	hsa-miR-202	CLIP-seq
MIRT2674362	hsa-miR-2110	CLIP-seq
MIRT765608	hsa-miR-3122	CLIP-seq
MIRT2674363	hsa-miR-3150a-3p	CLIP-seq
MIRT765611	hsa-miR-3160-5p	CLIP-seq
MIRT2469489	hsa-miR-3166	CLIP-seq
MIRT765679	hsa-miR-3175	CLIP-seq
MIRT765620	hsa-miR-3689a-3p	CLIP-seq
MIRT765621	hsa-miR-3689c	CLIP-seq
MIRT765622	hsa-miR-3913-5p	CLIP-seq
MIRT765624	hsa-miR-3929	CLIP-seq
MIRT2469491	hsa-miR-3944-5p	CLIP-seq
MIRT2674364	hsa-miR-4260	CLIP-seq
MIRT2674365	hsa-miR-4300	CLIP-seq
MIRT765628	hsa-miR-4419b	CLIP-seq
MIRT765631	hsa-miR-4458	CLIP-seq
MIRT765633	hsa-miR-4478	CLIP-seq
MIRT2469492	hsa-miR-4494	CLIP-seq
MIRT765636	hsa-miR-4500	CLIP-seq
MIRT765646	hsa-miR-4728-5p	CLIP-seq
MIRT2469494	hsa-miR-4771	CLIP-seq
MIRT765656	hsa-miR-485-5p	CLIP-seq
MIRT2469496	hsa-miR-545	CLIP-seq
MIRT765668	hsa-miR-558	CLIP-seq
MIRT2674366	hsa-miR-920	CLIP-seq
MIRT2674367	hsa-miR-939	CLIP-seq
MIRT765676	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	20587022
TCF7L2	Unknown	20803090

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	16752392, 32082362
GO:0001701	Process	In utero embryonic development	IEA
GO:0001936	Process	Regulation of endothelial cell proliferation	TAS	20406889
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001946	Process	Lymphangiogenesis	IEA
GO:0001946	Process	Lymphangiogenesis	ISS
GO:0001955	Process	Blood vessel maturation	TAS	20406889
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002043	Process	Blood vessel endothelial cell proliferation involved in sprouting angiogenesis	TAS	20406889
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756, 12393874
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	NAS	8242742
GO:0005024	Function	Transforming growth factor beta receptor activity	IDA	8242742
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IDA	8242742
GO:0005515	Function	Protein binding	IPI	8242742, 11266516, 11278302, 12393874, 14580334, 15611116, 15702480, 16049014, 17068149, 18974388, 21791611, 23868260, 28514442, 28564608, 33961781
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	8242742, 26176610
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006275	Process	Regulation of DNA replication	TAS	20406889
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	15702480
GO:0007162	Process	Negative regulation of cell adhesion	IMP	12453878
GO:0007165	Process	Signal transduction	IDA	15702480
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	15702480
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007507	Process	Heart development	IBA
GO:0008015	Process	Blood circulation	IMP	16752392
GO:0008217	Process	Regulation of blood pressure	IMP	14684682
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	12453878
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009986	Component	Cell surface	IDA	8242742
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17068149
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016361	Function	Activin receptor activity, type I	IDA	8242742, 22718755
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	19592636
GO:0030154	Process	Cell differentiation	IBA
GO:0030308	Process	Negative regulation of cell growth	IDA	17068149
GO:0030336	Process	Negative regulation of cell migration	IMP	12453878
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785
GO:0030509	Process	BMP signaling pathway	IDA	12065756, 22718755
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IGI	32561494
GO:0030509	Process	BMP signaling pathway	IMP	19366699, 19903896
GO:0030509	Process	BMP signaling pathway	TAS	32082362
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	17068149
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IGI	32561494
GO:0032332	Process	Positive regulation of chondrocyte differentiation	TAS	19494318
GO:0032924	Process	Activin receptor signaling pathway	IEA
GO:0035313	Process	Wound healing, spreading of epidermal cells	IMP	12453878
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0043535	Process	Regulation of blood vessel endothelial cell migration	TAS	20406889
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IMP	19592636
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045602	Process	Negative regulation of endothelial cell differentiation	IEA
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IGI	32561494
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12393874
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19366699
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048185	Function	Activin binding	IDA	8242742
GO:0048185	Function	Activin binding	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	8242742
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051895	Process	Negative regulation of focal adhesion assembly	IMP	12453878
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	19366699, 19903896
GO:0060562	Process	Epithelial tube morphogenesis	IEA
GO:0060836	Process	Lymphatic endothelial cell differentiation	IEA
GO:0060836	Process	Lymphatic endothelial cell differentiation	IMP	19903896
GO:0060840	Process	Artery development	IEA
GO:0060840	Process	Artery development	ISS
GO:0060841	Process	Venous blood vessel development	IEA
GO:0060841	Process	Venous blood vessel development	ISS
GO:0061154	Process	Endothelial tube morphogenesis	IMP	19592636
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	ISS
GO:0070724	Component	BMP receptor complex	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	19494318
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	19366699, 19903896
GO:0072359	Process	Circulatory system development	IEA
GO:0090500	Process	Endocardial cushion to mesenchymal transition	ISS
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
GO:0098821	Function	BMP receptor activity	IGI	32082362
GO:0098821	Function	BMP receptor activity	IMP	26176610
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IGI	32561494
GO:2000026	Process	Regulation of multicellular organismal development	IEA

Other IDs

• MIM: 601284
• HGNC: 175
• e!Ensembl: ENSG00000139567

Protein

• UniProt ID: P37023
• Protein name: Activin receptor type-1-like (EC 2.7.11.30) (Activin receptor-like kinase 1) (ALK-1) (Serine/threonine-protein kinase receptor R3) (SKR3) (TGF-B superfamily receptor type I) (TSR-I)
• Protein function: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinas
• PDB: 2LCR, 3MY0, 4FAO, 6SF1, 6SF2, 6SF3, 7PPC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08515	TGF_beta_GS	173 → 200	Transforming growth factor beta type I GS-motif	Family
  PF07714	PK_Tyr_Ser-Thr	202 → 489	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEG
  RHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLA
  LILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDS
  DCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
  RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLAL
  RLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSD
  YLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVED
  YRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
  TALRIKKTLQKISNSPEKPKVIQ

• Sequence length: 503

Pathways

KEGG:

Cytokine-cytokine receptor interaction

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
ACVRL1-related disorder	Pathogenic; Likely pathogenic	rs2139075900, rs2139084385, rs1555152548, rs863223415, rs863223416, rs28936401, rs2540174684, rs779485996, rs1060503234, rs1060503242, rs1085307405, rs1555153126, rs1555152774, rs1555153828, rs750085854	RCV004550099 RCV004729039 RCV004741168 RCV003235117 RCV004553062 RCV004547469 RCV004550617 RCV004722791 RCV004551532 RCV004722792 RCV004551616 RCV004740289 RCV004722892 RCV004547800 RCV004548064	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2139064475, rs2139067412, rs1555152710, rs1057256890, rs2139074041, rs2139084154, rs2139067969, rs2139074368, rs2139065261, rs2139068677, rs2139084385, rs2139064592, rs1085307418, rs2139070482, rs2139077046, rs2139072772, rs2139076990, rs1940908396, rs1427299751, rs863223408, rs2139065161, rs1940751760, rs2139064874, rs267606632, rs2540160434, rs1422629205, rs2540166475, rs2540160443, rs2540160601, rs2540160726, rs2540159358, rs2540159366, rs2540159380, rs2540166517, rs2540164872, rs2540166760, rs2540158011, rs1940766958, rs2540162558, rs754283265, rs2540160953, rs1565593274, rs962224649, rs2540162521, rs2540158104, rs2540158265, rs2540162791, rs2540164101, rs2540164236, rs191763644, rs2540164531, rs2540162760, rs2540162764, rs2540164315, rs2540164910, rs2540170652, rs2540158393, rs2540164690, rs2540158127, rs2540158136, rs2540158145, rs2540164298, rs2540164407, rs1940906429, rs2540164646, rs2540162715, rs2540162912, rs2540164709, rs2540164781, rs2540164775, rs2540164787, rs2540170766, rs2540158384, rs1060503243, rs2540174463, rs113700354, rs1131691346, rs2540158399, rs2540170917, rs1565594547, rs2540158607, rs763899082, rs2540158947, rs2540157034, rs2540158303, rs556168617, rs2540158812, rs2540158883, rs2540159181, rs2540166457, rs2139076336, rs1940767034, rs2139076978, rs863223415, rs863223409, rs863223414, rs863223410, rs863223416, rs758683062, rs863223412, rs863223413, rs863223418, rs863223406, rs1555154144, rs121909284, rs28936399, rs121909285, rs28936401, rs387906393, rs121909287, rs121909288, rs28936688, rs121909289, rs387906391, rs757645341, rs1168929877, rs2540160873, rs1940833669, rs2540174456, rs1057517944, rs774389618, rs1057521203, rs1060503246, rs1060503249, rs1060503237, rs779485996, rs1060503245, rs1060503242, rs1060503248, rs1064796530, rs1085307405, rs1085307406, rs1085307409, rs1085307410, rs1085307411, rs1085307415, rs1085307422, rs1085307426, rs1085307429, rs1131691686, rs1555152899, rs1555153126, rs1555152520, rs1555152440, rs1555152966, rs1555153131, rs1555153796, rs1555152774, rs1301762186, rs1555153277, rs1555153382, rs1555152455, rs1318446539, rs1555152454, rs1288729113, rs1565594524, rs1565595176, rs1565594311, rs1565596508, rs1565595129, rs1565594238, rs1592223399, rs1592223490, rs1592224087, rs1592224385, rs1592224412, rs959973779, rs1592222308, rs1940807179, rs1592224291, rs1940834530, rs1940836783, rs771606504, rs1940955941, rs1940785759, rs1226848374, rs56080682, rs750085854, rs1940805354, rs1940731395, rs1940731944	RCV002456602 RCV002322366 RCV005540433 RCV002377578 RCV002322371 RCV002384546 RCV002343698 RCV002405206 RCV002422861 RCV002343877 RCV002386900 RCV002386613 RCV002334821 RCV003170168 RCV002361341 RCV002423133 RCV002343930 RCV002386637 RCV002407179 RCV002389032 RCV002407052 RCV002343919 RCV002388756 RCV002390302 RCV002459406 RCV002328192 RCV002320845 RCV002452284 RCV002375709 RCV002332185 RCV002326079 RCV002320586 RCV002320589 RCV002445736 RCV002349378 RCV002347760 RCV002366593 RCV002353896 RCV002364125 RCV002361789 RCV002335554 RCV002341032 RCV002361545 RCV002361673 RCV002375830 RCV002378063 RCV002382581 RCV002416830 RCV002434870 RCV002450075 RCV002371435 RCV002371436 RCV002378392 RCV002370716 RCV002373349 RCV002378646 RCV002378916 RCV002376523 RCV002386985 RCV002367369 RCV002380509 RCV002384885 RCV002447904 RCV002376384 RCV002378463 RCV002374322 RCV002378278 RCV002396479 RCV002376697 RCV002398404 RCV002387392 RCV002387406 RCV002382900 RCV002385872 RCV002385910 RCV002391704 RCV002389143 RCV002394711 RCV002403328 RCV002380826 RCV002383567 RCV002398675 RCV002401810 RCV002417909 RCV002428552 RCV002408231 RCV002424385 RCV002431169 RCV002424209 RCV002428464 RCV002437773 RCV002435847 RCV002442329 RCV003164724 RCV005794470 RCV002390511 RCV002399717 RCV002415829 RCV002426928 RCV002321780 RCV002327029 RCV002381660 RCV002381661 RCV002433872 RCV002381659 RCV002388766 RCV002390510 RCV002371767 RCV002444423 RCV002390097 RCV002433448 RCV002390098 RCV002362571 RCV002390099 RCV002381244 RCV002345234 RCV002372240 RCV002408944 RCV003310441 RCV003341998 RCV004369276 RCV004992654 RCV002392938 RCV002392977 RCV002365499 RCV002411508 RCV004022871 RCV003168848 RCV004992242 RCV002374809 RCV002402291 RCV002436455 RCV002383932 RCV002420248 RCV002438191 RCV002431425 RCV002413346 RCV002413347 RCV002404279 RCV002395184 RCV002395185 RCV002395186 RCV002446962 RCV002367695 RCV002376938 RCV002341193 RCV002455978 RCV002438237 RCV003159651 RCV002377081 RCV002413524 RCV002350270 RCV002395381 RCV002448693 RCV002395380 RCV002395541 RCV002358746 RCV003303025 RCV002343486 RCV002388343 RCV002388242 RCV002388215 RCV002397491 RCV002369971 RCV002386230 RCV002334295 RCV002360842 RCV002370003 RCV002424882 RCV002424898 RCV002363104 RCV003307520 RCV002370110 RCV002381822 RCV002381809 RCV002381824 RCV002320216 RCV002320218 RCV006347334 RCV002374913 RCV002348459 RCV002339285 RCV002339315 RCV002372753 RCV002374963 RCV005306260 RCV002400218 RCV002379838 RCV002418696 RCV002429898 RCV002375157 RCV002365953 RCV002379903 RCV002393672	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs763785885	RCV005928396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epistaxis	Pathogenic	rs863223408	RCV000414952	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary factor VIII deficiency disease	Likely pathogenic; Pathogenic	rs2540166475, rs1085307429	RCV004820911 RCV004813103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemorrhagic telangiectasia	Likely pathogenic; Pathogenic	rs863223414, rs863223413, rs863223406, rs2540170879, rs2540164775, rs2540170898, rs2540160610, rs2540164275, rs1057517944, rs1085307409, rs1085307429, rs1131691686, rs1555152440, rs1555152966, rs1555153354, rs1555152468, rs1592223399, rs1592224087	RCV005250035 RCV004767134 RCV003993880 RCV003994639 RCV003994713 RCV003994730 RCV004018337 RCV004018385 RCV003993947 RCV004017643 RCV005250061 RCV004017648 RCV005054206 RCV005054204 RCV005054205 RCV005054207 RCV002512113 RCV005235484 RCV003994122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pathogenic; Likely pathogenic	rs863223408, rs121909288, rs1592224412, rs1592222308, rs1592223392	RCV000414952 RCV001003756 RCV001003755 RCV001003754 RCV001003751 RCV001003752 RCV001003758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	Pathogenic; Likely pathogenic	rs863223408, rs121909284, rs28936401, rs387906393, rs121909287, rs121909288, rs28936687, rs28936688, rs121909289, rs1057517944, rs1060503248, rs1085307404, rs1085307405, rs886043123, rs1085307407, rs1085307408, rs1085307409, rs1085307415, rs1085307418, rs1085307420, rs1085307422, rs1085307423, rs1085307424, rs1085307427, rs1085307428, rs1085307429	RCV000488871 RCV000008727 RCV000008734 RCV000008736 RCV000008738 RCV000008740 RCV000008741 RCV000008743 RCV000008744 RCV000488776 RCV000488746 RCV000488723 RCV000488479 RCV000488655 RCV000488786 RCV000488626 RCV000488783 RCV000488852 RCV000488764 RCV000488470 RCV000488738 RCV000488647 RCV000488779 RCV000488490 RCV000488689 RCV000488579 RCV000488710	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary hypertension, primary, 1	Pathogenic; Likely pathogenic	rs758683062, rs1085307406, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288	RCV000488769 RCV000488635 RCV000488544 RCV000488673 RCV000488872 RCV000488697 RCV000488581 RCV000488652 RCV000488621 RCV000488513 RCV000488694 RCV000488804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telangiectasia	Pathogenic	rs1555152955	RCV005235367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telangiectasia, hereditary hemorrhagic, type 2	Pathogenic; Likely pathogenic	rs1940955180, rs2139064443, rs1940804969, rs2139084277, rs2139064218, rs2139064475, rs2139064528, rs2139064649, rs143872998, rs2139067065, rs2139067412, rs1555152710, rs1057256890, rs2139074041, rs2139075900, rs2139084154, rs2139067969, rs2139074368, rs2139076978, rs2139073840, rs2139067888, rs2139067861, rs2139064139, rs2139065261, rs2139073925, rs2139073064, rs2139073732, rs2139068677, rs2139072643, rs1555152468, rs2139084385, rs2139064592, rs1940955656, rs1085307418, rs2139089160, rs2139077020, rs1060503242, rs2139070482, rs2139077046, rs1085307419, rs2139070714, rs2139072772, rs368437392, rs2139064757, rs2139076990, rs1940908396, rs1427299751, rs2139073155, rs2139073944, rs769850351, rs863223408, rs2139067187, rs2139067828, rs2139070294, rs2139072795, rs2139083899, rs2139084336, rs762773076, rs2139065347, rs2139062776, rs2139089146, rs2139073551, rs121909285, rs2139065161, rs1940751760, rs1555152548, rs2139064874, rs1085307416, rs2139084307, rs267606632, rs2139073933, rs2139065803, rs2139067539, rs2540164694, rs2540160434, rs2540166475, rs2540162558, rs2540162521, rs2540158265, rs191763644, rs2540164531, rs2540162760, rs2540162764, rs2540164315, rs2540164690, rs2540158145, rs2540162715, rs1060503243, rs1565594547, rs2540158607, rs556168617, rs1940767034, rs2540164313, rs2540164775, rs2540165040, rs2540158250, rs2540165022, rs763785885, rs2540164341, rs2540158414, rs2139068965, rs2540166738, rs2540162561, rs2540164230, rs2540164669, rs2540164963, rs1592224349, rs2540162624, rs1463725277, rs2540160709, rs2540174515, rs863223415, rs863223409, rs863223414, rs863223410, rs863223416, rs758683062, rs863223412, rs863223413, rs863223406, rs1555154144, rs2540164593, rs2540162683, rs2540170618, rs1940907688, rs121909284, rs28936399, rs387906392, rs121909286, rs28936401, rs387906393, rs121909287, rs121909288, rs28936687, rs28936688, rs121909289, rs387906394, rs387906391, rs757645341, rs2540159161, rs2540157150, rs2540170936, rs2540174697, rs2540166517, rs2540170621, rs2540164860, rs1592228303, rs750085854, rs2540161650, rs2540161015, rs2540161495, rs2540161639, rs1940780439, rs2540162613, rs1940782891, rs2540164997, rs1940833669, rs2540174456, rs139142865, rs1592224220, rs2540159312, rs1085307415, rs2540160515, rs2540158762, rs1940813954, rs2540164081, rs2540158727, rs2540164261, rs2540160334, rs2540164448, rs1555153172, rs2540164499, rs2540164135, rs2540161714, rs1057517944, rs774389618, rs1057521203, rs1060503246, rs1060503249, rs1060503237, rs779485996, rs1060503236, rs1060503241, rs1060503234, rs1060503240, rs1060503245, rs1060503247, rs1060503248, rs1060503235, rs1060503238, rs1064794217, rs1085307405, rs1085307406, rs1085307409, rs1085307410, rs1085307414, rs1085307417, rs1085307422, rs1085307426, rs1085307428, rs1085307429, rs1131691686, rs962224649, rs1555152899, rs1555153126, rs1555153848, rs1555152520, rs1555152955, rs1555152966, rs1555153354, rs1555152771, rs1555152935, rs1555153830, rs1555152786, rs1555152909, rs1555153131, rs1555153796, rs1555152774, rs1555152815, rs1166311240, rs1301762186, rs1555153277, rs1555153382, rs1555152447, rs1555152455, rs1318446539, rs1318118188, rs1555153133, rs1555152345, rs1555152454, rs1555153828, rs1555153854, rs1555153077, rs148057374, rs1288729113, rs1565594467, rs1565594524, rs1565594969, rs1565595121, rs1565595176, rs1565594536, rs1565594311, rs1565596508, rs1565593274, rs1565595129, rs111710113, rs775754117, rs1565593639, rs1565594920, rs1565596498, rs1592221728, rs1592221830, rs1592221930, rs1592223399, rs1592223416, rs1592223468, rs1592223490, rs1592224087, rs1592224385, rs762287966, rs1592224402, rs1592224412, rs765895870, rs1592225036, rs1592225044, rs1592223028, rs1592221459, rs1592223964, rs959973779, rs1592222308, rs1940729491, rs1184716348, rs1940783683, rs1940807179, rs1592224291, rs1940812366, rs1940830552, rs1940834530, rs1940836783, rs1940837338, rs1940906429, rs771606504, rs1940908116, rs1940908457, rs1940955941, rs1940785759, rs1940838178, rs1940812948, rs1940751311, rs999380946, rs1226848374, rs1221689111, rs1940757414, rs1940766819, rs1940808154, rs56080682, rs750720985, rs542810348, rs1940805354, rs1940731395, rs1940750523, rs1940784067, rs1940804402, rs1940814079, rs1940731944, rs1940739463, rs1940756257, rs1940780382, rs1940807412, rs1940813707, rs1940813766, rs1940836063, rs1940907270, rs1940958854, rs1940959530, rs1940782251, rs1940782986, rs1453780248	RCV001313821 RCV001378120 RCV001377597 RCV001378121 RCV001385203 RCV001385584 RCV001382876 RCV001387356 RCV001385923 RCV001381552 RCV001386902 RCV001390479 RCV001388840 RCV001388095 RCV001388096 RCV001383045 RCV001882548 RCV003509668 RCV001729985 RCV003509692 RCV001783170 RCV001783174 RCV001801299 RCV001801300 RCV001801301 RCV001801302 RCV001803664 RCV001869864 RCV001925620 RCV002017836 RCV002017990 RCV001894431 RCV001905934 RCV001911102 RCV001958808 RCV001975184 RCV002006986 RCV002000185 RCV002019117 RCV001877326 RCV001893526 RCV002000045 RCV002000062 RCV001897578 RCV001876849 RCV001874813 RCV001942177 RCV002002987 RCV002034974 RCV001965253 RCV002022873 RCV001970208 RCV001951005 RCV001998895 RCV001967719 RCV002031719 RCV001942294 RCV001970082 RCV001901303 RCV001949443 RCV001951370 RCV001982961 RCV001959004 RCV001918246 RCV001902282 RCV001956524 RCV001895308 RCV002012560 RCV002074469 RCV000144434 RCV002266126 RCV002272651 RCV002272804 RCV002299283 RCV003509713 RCV003619763 RCV005096951 RCV005008556 RCV003098413 RCV003103575 RCV005097322 RCV003098487 RCV003098489 RCV003099999 RCV003509746 RCV003619779 RCV003509729 RCV003509749 RCV003509751 RCV005097745 RCV003102134 RCV002466779 RCV003041158 RCV003041159 RCV003062517 RCV003093198 RCV002583485 RCV002671073 RCV002726102 RCV002735848 RCV002760797 RCV002838897 RCV002856661 RCV002867209 RCV002898687 RCV002871341 RCV002881028 RCV002848252 RCV002899207 RCV002899238 RCV002899247 RCV002899347 RCV000459586 RCV001857712 RCV000534448 RCV001262078 RCV000694342 RCV000472148 RCV000531199 RCV000762899 RCV000689218 RCV001924863 RCV000502469 RCV002937639 RCV003006346 RCV003025977 RCV003036774 RCV003044692 RCV003619811 RCV000008726 RCV000008728 RCV000008730 RCV000008731 RCV000008732 RCV000008733 RCV000008735 RCV000008737 RCV000008739 RCV001001392 RCV000008742 RCV005089210 RCV000008745 RCV000008746 RCV000230219 RCV000231890 RCV003236766 RCV003333622 RCV003619851 RCV003484560 RCV003484235 RCV003509933 RCV003509924 RCV003509839 RCV003510719 RCV003510752 RCV003510649 RCV003510987 RCV003511394 RCV003511370 RCV003508985 RCV003508986 RCV003508987 RCV003508988 RCV003508989 RCV003508990 RCV003508991 RCV003508992 RCV003508993 RCV003508994 RCV003508995 RCV003508996 RCV003510005 RCV003509381 RCV003509447 RCV003509388 RCV003510195 RCV003510243 RCV003510376 RCV003620778 RCV003620706 RCV003620833 RCV003620809 RCV003621147 RCV003621005 RCV003621161 RCV003621396 RCV003621397 RCV003619240 RCV003620262 RCV003620332 RCV003837808 RCV003842958 RCV003989276 RCV000533545 RCV002272232 RCV001861514 RCV000466064 RCV000476471 RCV000471693 RCV000465534 RCV000462051 RCV000458567 RCV000475892 RCV000470739 RCV000459062 RCV000473695 RCV000457633 RCV000467491 RCV000475631 RCV000456833 RCV000531463 RCV001050243 RCV000795036 RCV003509546 RCV001388094 RCV000640435 RCV000525054 RCV001851300 RCV002496883 RCV000810385 RCV002527017 RCV000546029 RCV001241423 RCV002272257 RCV001262033 RCV000554533 RCV005091060 RCV005091134 RCV000808864 RCV005091135 RCV002524906 RCV001387731 RCV001857255 RCV001205745 RCV005091163 RCV000694605 RCV002524955 RCV000546943 RCV000535053 RCV000548593 RCV000555428 RCV000547521 RCV000540514 RCV000542741 RCV000538435 RCV000558413 RCV000535409 RCV000528230 RCV000538925 RCV000552998 RCV000542069 RCV000525999 RCV000585643 RCV003509577 RCV000640438 RCV000640447 RCV000640446 RCV000640443 RCV000640433 RCV000640437 RCV000640445 RCV000640434 RCV000640448 RCV000640432 RCV000640440 RCV000695078 RCV000696651 RCV000705854 RCV000697373 RCV000691776 RCV000692751 RCV000688794 RCV000689602 RCV000707489 RCV000706665 RCV000699056 RCV000691652 RCV000710057 RCV000754826 RCV003768272 RCV002536556 RCV001855885 RCV001058165 RCV000796690 RCV000798900 RCV000808540 RCV000807692 RCV000810225 RCV000811840 RCV000808210 RCV000817776 RCV000814495 RCV000799743 RCV000810629 RCV000814801 RCV000791880 RCV000821394 RCV000812604 RCV000815009 RCV000819566 RCV000812276 RCV000815728 RCV000807860 RCV000795111 RCV001000940 RCV001000915 RCV001001393 RCV005093036 RCV001060097 RCV001050752 RCV001065552 RCV001040491 RCV001040884 RCV001043944 RCV001043578 RCV001064308 RCV001052514 RCV001064025 RCV001039802 RCV001040207 RCV001039935 RCV001065524 RCV001056963 RCV001063612 RCV001040640 RCV001037203 RCV001063960 RCV001037437 RCV001062489 RCV001035910 RCV001059934 RCV001036645 RCV001066276 RCV001037493 RCV001196394 RCV001198970 RCV001221492 RCV001224004 RCV001222341 RCV001222170 RCV001224773 RCV001220846 RCV001217789 RCV001203641 RCV001207474 RCV001201708 RCV001211474 RCV001203796 RCV001210376 RCV001208358 RCV001211959 RCV001236580 RCV001230171 RCV001227831 RCV001243907 RCV001239929 RCV001262029 RCV001262034 RCV001262079 RCV001262080 RCV001262081 RCV001262082 RCV001262084 RCV001262023 RCV001262024 RCV001262026 RCV001262028 RCV001262030 RCV001262032 RCV001287688 RCV001284954 RCV001286743	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Haemorrhagic telangiectasia 2	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heritable pulmonary arterial hypertension	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip telangiectasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cavity telangiectasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous, recurrent epistaxis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia of the skin	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia, hereditary hemorrhagic, type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24612196		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27517154		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26318657		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	29514107, 31390744		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31689244		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32503579, 40205542	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	19136931		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	31623405		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	11484689	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous malformation of liver	Hepatic arteriovenous malformation	GENOMICS_ENGLAND_DG	14684682		★☆☆☆☆ Found in Text Mining only
Arteriovenous malformation of liver	Hepatic arteriovenous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	12843319, 16155196, 17220751, 18673552, 19270816, 19508727, 21967607, 25847705, 29048420, 32503579, 32962750, 34872578	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	26041630, 37695357	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	36198763	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	15277641, 16179574, 29593101		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	16470787		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	16861286		★☆☆☆☆ Found in Text Mining only
Brain Abscess	Brain Abscess	LHGDN	17224686		★☆☆☆☆ Found in Text Mining only
Brain Abscess	Brain Abscess	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21527583, 26373572		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21527583, 35953532	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28751863		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	29171923, 29350590		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	Capillary Malformation-Arteriovenous Malformation	BEFREE	30760892		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27329247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33761933	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22869457	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12812985		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32523017	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19553198		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	16594992	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29636300		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29636300, 34337040, 37743483	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	10625079, 10946360, 11062473, 11170071, 11773580, 12843319, 16059938, 16179574, 16470787, 16542389, 16611103, 16703249, 16705692, 16776339, 17388964, 17576210, 18154019, 18283546, 18831062, 19064791, 19337313, 19357124, 19508727, 19553198, 20093519, 21765215, 22991266, 24196379, 25847705, 26645978, 26821948, 27611203, 27767404, 28213819, 28339142, 28927913, 29048420, 29976569, 30251589, 30260738, 30571376, 30687014, 31828546		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	LHGDN	16179574, 16542389		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24666231		★☆☆☆☆ Found in Text Mining only
Congenital pulmonary arteriovenous malformation	Congenital Pulmonary Arteriovenous Malformation	GENOMICS_ENGLAND_DG	14684682		★☆☆☆☆ Found in Text Mining only
Congenital pulmonary arteriovenous malformation	Congenital Pulmonary Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28213819, 28565818, 28820968		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	16941203		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	LHGDN	16941203		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28031424, 30951193		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	16941203		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	32561494	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	24666231		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19494318, 21638205, 24034904		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	22391335		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19539633	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	14732718, 20803090		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	32523017	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19136931, 19521280		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30617053		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30617053	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32600370	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16540754, 23298310, 27587546, 29350394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	20056902, 22374147, 22632830, 23298310, 28661905, 28743113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	ORPHANET_DG	22632830, 23298310, 24936649, 24951767, 24956016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26699722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	ORPHANET_DG	22632830, 23298310, 24936649, 24951767, 24956016		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal angiodysplasia	Gastrointestinal angiodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	12843319, 22553411	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	17224686	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal telangiectasia	Gastrointestinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23447486, 26373572		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	23298310	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28213819, 28565818, 28820968		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23386486	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	10694922, 10767348, 10899246, 11170071, 11484689, 11793473, 12358355, 12920067, 14684682, 15024723, 15065824, 15194176, 15198877, 15277641, 15375013, 15521985, 15712270, 16121312, 16282348, 16429404, 16470589, 16542389, 16675726, 16705692, 16776339, 16861286, 16941203, 17219009, 17224686, 17388964, 18159113, 18220803, 18285823, 18312453, 18498373, 18855162, 18972447, 19357124, 19555857, 20141966, 20412114, 21651515, 22028876, 22571958, 22677372, 23124896, 23460919, 23733703, 24133138, 24355637, 25159282, 25847705, 25970827, 26176610, 26645978, 28796572, 28967497, 28973643, 29350590, 29449337, 30251589, 30389587, 30571376, 30964206, 8640225, 9245985		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	LHGDN	12920067, 15024723, 15517393, 15712270, 15880681, 16470589, 17224686, 17786384, 18159113, 18498373, 18543223, 18607909		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	CTD_human_DG	20135064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	CLINVAR_DG	11484689, 14684682, 15065824, 15687131, 18159113, 19357124, 20056902, 21378382, 21651515, 23298310, 23919827, 25318803, 26387786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	CLINGEN_DG	12015308, 12588795, 15702480, 17384219, 17911384, 20364125, 20414677, 24896812, 26176610, 8640225, 9245985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heritable pulmonary arterial hypertension	Heritable Pulmonary Arterial Hypertension	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	27196063		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	24666231		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	24666231		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19136931		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23414820		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29880487		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	11484689, 14684682, 15065824, 16540754, 18187665, 26820968, 30303062, 31511490, 35232468	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11484689, 14684682, 16941203, 17641482, 24956016, 30636542		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15687131		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	11817654, 11869166, 12358355, 12708784, 14684682, 15065824, 15194176, 16121312, 16675726, 18159113, 18792970, 19211612, 19357124, 20056902, 21651515, 22474227, 22632830, 23883380, 24355637, 24936649, 24956016, 25159282, 25543221, 26245826, 26387786, 26699722, 27316748, 28661905, 28768485, 29799317, 29904431, 30260738, 30809644, 31719172		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	14684682		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	11817654, 11869166, 12708784, 15065824, 16675726, 22374147, 22632830		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	11406658, 12218210, 15330992, 17396140, 22646268, 24666231, 27271275, 28449468, 30015720		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	24323303, 25847705, 26818729, 32503579, 36198763	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	22553411, 22991266	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	16690726, 20101697, 23805858		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10555007, 11138613, 12218210, 18594466, 19136931, 23923083, 24623571, 28427693, 28652442, 29663705, 31355067, 9028963, 9250148, 9490693, 9808552		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31307525		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30352941		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28794048		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32503579	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	17388964	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25847705	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	37120586	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10555007, 19521280, 21366363		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	19136931		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23447486, 26373572		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21527583		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28794048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28445989, 29259971		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12812985, 26373572, 30041929, 30132150, 30866419		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26373572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	31169683		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28056549		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22391627		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10323406, 17230504, 19787794, 20065063, 23447486, 23689691, 23923083, 24618373, 26373572, 28031424, 29259971, 30165893		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25188507		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23851431		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23551582, 30580372		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	CLINVAR_DG	10187774, 10694922, 10767348, 11484689, 12114496, 12700602, 12843319, 14684682, 15024723, 15065824, 15375013, 15517393, 15687131, 15712270, 15712271, 15879500, 15880681, 16123970, 16282348, 16429404, 16470589, 16470787, 16525724, 16540754, 16542389, 16690726, 16705692, 16706966, 16752392, 16861286, 17384219, 17786384, 18159113, 18285823, 18498373, 18673552, 19508727, 19555857, 20414677, 20501893, 21158752, 21378382, 22028876, 22377182, 22553411, 22632830, 22718755, 22799562, 22991266, 23124896, 23298310, 23722869, 23805858, 23919827, 24603890, 25970827, 26176610, 26245826, 26387786, 27316748, 29171923, 8640225, 9245985		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	UNIPROT_DG	10694922, 10767348, 11170071, 11484689, 14684682, 15024723, 15712270, 16525724, 16752392, 20414677, 26176610, 8640225, 9245985		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	CLINGEN_DG	12015308, 12588795, 15702480, 17384219, 17911384, 20364125, 20414677, 24896812, 26176610, 8640225, 9245985		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	BEFREE	12843319, 15907823, 16282348, 18855162, 22028876, 23124896		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	GENOMICS_ENGLAND_DG	14684682, 16470787, 26699722, 30251589		★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17230504		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23851431		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	17230504, 23851431		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19136931		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	24666231		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28445989, 29259971		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28445989	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	12358355, 14684682, 16121312, 18159113, 19357124, 20056902, 22632830, 23883380, 27316748, 30809644, 31719172		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	14684682		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	18159113, 20956122, 22474227, 23298310, 24724759, 24936649, 26699722, 26820968, 34900561, 35232468, 35346192, 40205542	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Arteriovenous Fistulas	Pulmonary Arteriovenous Fistulas	GENOMICS_ENGLAND_DG	14684682		★☆☆☆☆ Found in Text Mining only
Pulmonary Arteriovenous Fistulas	Pulmonary Arteriovenous Fistulas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CLINVAR_DG	18159113, 19555857, 22632830, 23298310, 24753439, 26387786		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Veno-Occlusive Disease (disorder)	Pulmonary venoocclusive disease	BEFREE	26699722		★☆☆☆☆ Found in Text Mining only
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	27587546		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28031424, 30951193		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28733640		★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
Right ventricle hypoplasia	Right ventricle hypoplasia	Pubtator	37120586	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29636300, 31444620		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	12218210		★☆☆☆☆ Found in Text Mining only
Spinal arteriovenous malformation	Spinal arteriovenous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23447486		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30251589	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22277251		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	11075852		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	11316039, 11484689, 12453878, 12843319, 14684682, 16123970, 16155196, 16164574, 16540754, 16594992, 16690726, 16785228, 17220751, 17224686, 17388964, 18673552, 19270816, 19366699, 19508727, 20141966, 21967607, 22022569, 22553411, 22991266, 23460919, 24267784, 24603890, 25318803, 25847705, 26041630, 26176610, 26372311, 28114930, 28231770, 29147802, 29243366, 30251589, 31400083, 31511490, 31594285, 31630786, 32300199, 32341592, 32503579, 32573726, 32600370, 32756122, 32847536, 32962750, 33052496, 33407668, 34502358, 34538258, 34872578, 35165143, 35232468, 35620871, 36981042, 37689549, 38355093, 39939156, 40205542, 40225928	Associate	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	12920067, 37695357	Stimulate	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	24587130	Inhibit	★☆☆☆☆ Found in Text Mining only
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	CLINVAR_DG	15024723, 15065824, 15517393, 16429404, 16470787, 17219009, 17384219, 17786384, 18673552, 23722869, 23919827, 24196379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	BEFREE	18855162, 24323303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	CTD_human_DG	20135064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboxane synthetase deficiency	Thromboxane Synthetase Deficiency	BEFREE	6268139		★☆☆☆☆ Found in Text Mining only
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	BEFREE	28412737		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	BEFREE	10466415		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30168888		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	14684682, 24133138, 9245985		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	14684682, 16785228, 22028876	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	25847705, 31630786, 32962750	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	15065824, 16594992	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	37120586	Associate	★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	27196063		★☆☆☆☆ Found in Text Mining only
Wolman Disease	Wolman Disease	BEFREE	943453		★☆☆☆☆ Found in Text Mining only