Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	94
Gene name Gene Name - the full gene name approved by the HGNC.	Activin A receptor like type 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACVRL1
Synonyms (NCBI Gene) Gene synonyms aliases	ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HHT2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(159)

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

Show/Hide all(277)

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

Show/Hide all(2)

Transcription factor	Regulation	Reference
SP1	Unknown	20587022
TCF7L2	Unknown	20803090

Show/Hide all(73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IBA	21873635
GO:0001525	Process	Angiogenesis	IMP	16752392
GO:0001936	Process	Regulation of endothelial cell proliferation	TAS	20406889
GO:0001946	Process	Lymphangiogenesis	ISS
GO:0001955	Process	Blood vessel maturation	TAS	20406889
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	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756, 12393874
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	8242742
GO:0005024	Function	Transforming growth factor beta-activated receptor activity	IDA	8242742
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA	21873635
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, 23868260, 28564608
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	26176610
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	8242742
GO:0006275	Process	Regulation of DNA replication	TAS	20406889
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	15702480
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	12065756
GO:0007162	Process	Negative regulation of cell adhesion	IMP	12453878
GO:0007165	Process	Signal transduction	IDA	15702480
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	15702480
GO:0007507	Process	Heart development	IBA	21873635
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	21873635
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	ISS
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	19366699
GO:0016361	Function	Activin receptor activity, type I	IDA	8242742
GO:0019901	Function	Protein kinase binding	IPI	19592636
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	21873635
GO:0030509	Process	BMP signaling pathway	IMP	19366699
GO:0030509	Process	BMP signaling pathway	TAS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	17068149
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	ISS
GO:0043235	Component	Receptor complex	IBA	21873635
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:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	12393874
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19366699
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IBA	21873635
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046872	Function	Metal ion binding	IEA
GO:0048185	Function	Activin binding	IDA	8242742
GO:0050431	Function	Transforming growth factor beta binding	IPI	8242742
GO:0051895	Process	Negative regulation of focal adhesion assembly	IMP	12453878
GO:0060836	Process	Lymphatic endothelial cell differentiation	IMP	19903896
GO:0060840	Process	Artery development	ISS
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	ISS
GO:0070724	Component	BMP receptor complex	IBA	21873635
GO:0071363	Process	Cellular response to growth factor stimulus	IBA	21873635
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	19494318
GO:0071773	Process	Cellular response to BMP stimulus	IMP	19366699, 19903896
GO:0090500	Process	Endocardial cushion to mesenchymal transition	ISS
GO:0098821	Function	BMP receptor activity	IMP	26176610
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IMP	19366699

MIM	HGNC	e!Ensembl
601284	175	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

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction		Signaling by BMP

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Iron-Refractory Iron Deficiency Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Cerebral arteriovenous malformation	Arteriovenous Malformations, Cerebral	rs121913529, rs17851045, rs1553178399, rs781410462, rs577890523, rs1554047435, rs778089198, rs1554810174, rs1555238867, rs1555196298, rs1555556099, rs1555630396, rs1555985260, rs1585998247
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Hereditary hemorrhagic telangiectasia	Hereditary hemorrhagic telangiectasia	rs121918400, rs2131875838, rs1564457752, rs121918402, rs373842615, rs730880096, rs863223539, rs863223538, rs863223541, rs863223543, rs863223542, rs863223536, rs863223540, rs863223537, rs863223534 View all (148 more)	20135064
Hypertension	Hypertensive disease	rs13306026
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)
Migraine	Migraine Disorders	rs794727411
Pulmonary arterial hypertension	Familial pulmonary arterial hypertension, Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)	24956016, 22632830, 23298310, 24936649, 24951767, 14684682
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	rs121909284, rs28936401, rs387906393, rs121909287, rs121909288, rs28936687, rs28936688, rs121909289, rs863223408, rs1057517944, rs1060503248, rs1085307435, rs1085307434, rs1085307433, rs1085307432 View all (16 more)	17911384, 20364125, 15687131, 19357124, 9245985, 8640225, 26176610, 17384219, 20414677, 15065824, 12015308, 23298310, 20056902, 25318803, 26387786 View all (9 more)
Pulmonary hypertension	Familial primary pulmonary hypertension, Pulmonary Hypertension, Primary, 1	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748 View all (349 more)	24951767, 24936649, 24956016, 22632830, 26699722, 23298310, 19555857, 26387786, 24753439, 18159113
Telangiectasia	Telangiectasia, Hereditary Hemorrhagic, Type 1	rs121909284, rs28936399, rs121909285, rs387906392, rs121909286, rs28936401, rs387906393, rs121909287, rs121909288, rs28936687, rs28936688, rs121909289, rs387906394, rs121918400, rs2131886961 View all (211 more)	17786384, 20135064, 16429404, 17384219, 23722869, 15065824, 16470787, 24196379, 15517393, 17219009, 18673552, 15024723, 23919827
Telangiectasia, hereditary hemorrhagic	OSLER-RENDU-WEBER SYNDROME 2	rs199804679, rs200330818, rs1555208696, rs1358534877	11484689, 27316748, 17384219, 22718755, 24603890, 15712271, 18673552, 15702480, 21158752, 22799562, 20414677, 16470589, 17911384, 15879500, 12700602 View all (57 more)
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810 View all (614 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Cirrhosis	Cirrhosis	ClinVar
Congestive heart failure	Congestive heart failure	ClinVar
Ischemic stroke	Ischemic stroke	ClinVar
Eczema	Eczema	GWAS
Coronary artery disease	Coronary artery disease	GWAS

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	34036102
Anemia	Associate	32503579, 40205542
Angiodysplasia	Associate	22553411
Arterial Occlusive Diseases	Associate	11484689
Arterio Arterial Fistula	Associate	24724759
Arteriovenous Malformations	Associate	12843319, 16155196, 17220751, 18673552, 19270816, 19508727, 21967607, 25847705, 29048420, 32503579, 32962750, 34872578
Arteriovenous Malformations	Stimulate	26041630, 37695357
Arteriovenous Malformations	Inhibit	36198763
Basal Ganglia Hemorrhage	Associate	22553411
Brain Abscess	Associate	30251589
Breast Neoplasms	Associate	21527583, 35953532
Capillary Malformation Arteriovenous Malformation	Associate	30251589
Carcinoma Hepatocellular	Associate	27329247
Carcinoma Renal Cell	Associate	33761933
Cardiomyopathy Hypertrophic	Associate	22869457
Cardiovascular Diseases	Associate	32523017
Cerebrovascular Disorders	Associate	16594992
Chemical and Drug Induced Liver Injury	Associate	17224686
Colorectal Neoplasms	Associate	29636300, 34337040, 37743483
COVID 19	Associate	33052496
Crohn Disease	Associate	32561494
Diabetes Mellitus	Associate	19539633
Diabetic Retinopathy	Associate	32523017
Epistaxis	Associate	17224686, 22553411, 28114930, 30251589
Epistaxis	Stimulate	26372311
Esophageal Neoplasms	Associate	34725559
Essential Hypertension	Associate	30617053
Eye Diseases	Associate	32600370
Eye Infections Fungal	Associate	32600370
Familial Primary Pulmonary Hypertension	Associate	16540754, 23298310, 27587546, 29350394
Gastrointestinal Hemorrhage	Associate	12843319, 22553411
Gastrointestinal Hemorrhage	Stimulate	17224686
Genetic Diseases Inborn	Associate	14684682
Glucosephosphate Dehydrogenase Deficiency	Associate	22028876
Heart Defects Congenital	Associate	23298310
Hematoma Subdural Chronic	Associate	24305026
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23386486
Hypertension Pulmonary	Associate	11484689, 14684682, 15065824, 16540754, 18187665, 26820968, 30303062, 31511490, 35232468
Inflammation	Inhibit	29367682
Intracranial Arteriovenous Malformations	Associate	24323303, 25847705, 26818729, 32503579, 36198763
Intracranial Hemorrhages	Associate	22553411, 22991266
Isolated Noncompaction of the Ventricular Myocardium	Associate	37120586
Liver Diseases	Associate	32503579
Liver Failure	Stimulate	17388964
Liver Failure	Associate	25847705
Lung Diseases	Associate	37120586
Lymphoma Large Cell Anaplastic	Associate	19136931, 23923083
MASS syndrome	Associate	23923083
Nasal Polyps	Associate	29367682
Neoplasm Invasiveness	Associate	36604653
Neoplasms	Associate	33761933, 34725559, 36928315
Osler rendu weber syndrome 2	Associate	15065824, 22028876, 24724759, 32485642, 35279593, 37120586, 37371070
Phenylketonurias	Associate	27587546, 32159364
Polyps	Stimulate	29367682
Pre Eclampsia	Inhibit	22013081
Prostatic Neoplasms	Associate	28445989
Pulmonary Arterial Hypertension	Associate	18159113, 20956122, 22474227, 23298310, 24724759, 24936649, 26699722, 26820968, 34900561, 35232468, 35346192, 40205542
Pulmonary Embolism	Associate	26820968
Renal Insufficiency	Associate	37120586
Right ventricle hypoplasia	Associate	37120586
Scimitar Syndrome	Associate	28412737
Stress Disorders Post Traumatic	Associate	36631443
Stroke	Associate	30251589
Syndrome	Associate	30303062
Telangiectasia Hereditary Benign	Associate	22869457
Telangiectasia Hereditary Hemorrhagic	Associate	11316039, 11484689, 12453878, 12843319, 14684682, 16123970, 16155196, 16164574, 16540754, 16594992, 16690726, 16785228, 17220751, 17224686, 17388964 View all (48 more)
Telangiectasia Hereditary Hemorrhagic	Stimulate	12920067, 37695357
Telangiectasia Hereditary Hemorrhagic	Inhibit	24587130
Telangiectasis	Associate	11316039, 17224686, 27329247, 31630786
Telangiectasis	Stimulate	12920067
Vascular Diseases	Associate	14684682, 16785228, 22028876
Vascular Malformations	Associate	25847705, 31630786, 32962750
Vascular System Injuries	Associate	15065824, 16594992
Ventricular Dysfunction Right	Associate	37120586
Vocal Cord Paralysis	Associate	30303062

ACVRL1 (activin A receptor like type 1)