KRIT1 (KRIT1 ankyrin repeat containing)

Gene

• Entrez ID: 889
• Gene name: KRIT1 ankyrin repeat containing
• Gene symbol: KRIT1
• Synonyms (NCBI Gene): CAM, CCM1
• Chromosome: 7
• Chromosome location: 7q21.2
• Summary: This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34358665	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs137853139	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs137853140	G>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs267607203	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs267607204	G>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs373763254	->T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374303823	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374662170	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs549591728	C>T	Pathogenic	Splice donor variant
rs757560062	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs764960797	G>A,C,T	Pathogenic	Missense variant, synonymous variant, intron variant, coding sequence variant, stop gained
rs770594592	CTTTT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs771656368	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs779465895	G>A,C,T	Pathogenic	Intron variant
rs780114710	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs866982998	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs886039400	ACTT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886039401	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs886039402	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039571	T>C	Pathogenic	Splice acceptor variant
rs886039572	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039659	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041209	TTCT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886041415	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041557	TGTTTGTTTTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041572	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886043300	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, intron variant, coding sequence variant
rs965713946	T>C	Pathogenic	Splice acceptor variant
rs1041438637	T>C	Pathogenic	Intron variant
rs1057517752	AGTAATT>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057517753	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517754	TTCTT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518665	CT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057521140	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs1064793348	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1180476377	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs1326827713	->AATG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1331502949	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1554489785	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1554490317	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554502838	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554502927	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554503009	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554503116	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554503202	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554503702	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554503705	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554504484	TC>-	Pathogenic	Coding sequence variant, stop gained
rs1554504519	CCATAGACTATTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554512658	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554512816	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554513061	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554513070	C>A	Pathogenic	Splice acceptor variant
rs1554513911	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1554514380	TAC>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554518369	TT>-	Likely-pathogenic	Intron variant
rs1554518386	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554518541	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554518750	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554518783	C>T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1554518790	C>T	Likely-pathogenic	Splice acceptor variant
rs1554527032	->A	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554527169	G>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1554527779	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554527817	G>C	Pathogenic	Coding sequence variant, stop gained
rs1554527919	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554527922	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554527925	T>C	Pathogenic	Splice acceptor variant
rs1554528541	A>G	Pathogenic	Intron variant, splice donor variant
rs1554528662	G>C	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554529341	C>T	Pathogenic	Splice acceptor variant
rs1554539120	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Initiator codon variant, 5 prime UTR variant, missense variant
rs1563211361	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563211627	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563211839	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563212150	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563239833	A>G	Likely-pathogenic	Splice donor variant
rs1563240592	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563240821	GTAGGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563242500	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563242833	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563242899	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563243016	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563244596	ACTT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1563244618	C>T	Pathogenic	Intron variant
rs1563244629	T>G	Uncertain-significance, likely-pathogenic	Intron variant
rs1563244807	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563245191	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563245290	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1563245596	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1563263366	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563263545	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563263604	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563263905	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563264033	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563264113	T>G	Likely-pathogenic	Splice acceptor variant
rs1563265838	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563265959	C>T	Pathogenic	Coding sequence variant, stop gained
rs1563266147	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563266163	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1563266256	AGACG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563266277	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563266658	TTCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563266994	GAACT>TACA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563267100	C>T	Pathogenic	Splice acceptor variant
rs1563275256	CTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563275284	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563275562	TGTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563279045	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563301305	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563301527	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563301954	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563302930	A>T	Likely-pathogenic	Splice donor variant
rs1563302941	C>T	Pathogenic	Splice donor variant
rs1563302951	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563303222	ATTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563305064	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1563305269	G>C	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1563305588	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563305648	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563306485	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563307239	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563307254	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563309967	TAGTATT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1563313372	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1563321624	->GG	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1584800138	->AGATTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1584807148	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584873058	T>A	Pathogenic	Stop gained, coding sequence variant
rs1584881309	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584881660	C>A	Pathogenic	Stop gained, coding sequence variant
rs1584975743	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1584976350	TATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584981589	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440350	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT440350	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT1100899	hsa-miR-1185	CLIP-seq
MIRT1100900	hsa-miR-1257	CLIP-seq
MIRT1100901	hsa-miR-1272	CLIP-seq
MIRT1100902	hsa-miR-1283	CLIP-seq
MIRT1100903	hsa-miR-1297	CLIP-seq
MIRT1100904	hsa-miR-1322	CLIP-seq
MIRT1100905	hsa-miR-193a-5p	CLIP-seq
MIRT1100906	hsa-miR-21	CLIP-seq
MIRT1100907	hsa-miR-216a	CLIP-seq
MIRT1100908	hsa-miR-216b	CLIP-seq
MIRT1100909	hsa-miR-221	CLIP-seq
MIRT1100910	hsa-miR-222	CLIP-seq
MIRT1100911	hsa-miR-224	CLIP-seq
MIRT1100912	hsa-miR-23a	CLIP-seq
MIRT1100913	hsa-miR-23b	CLIP-seq
MIRT1100914	hsa-miR-23c	CLIP-seq
MIRT1100915	hsa-miR-26a	CLIP-seq
MIRT1100916	hsa-miR-26b	CLIP-seq
MIRT1100917	hsa-miR-3144-3p	CLIP-seq
MIRT1100918	hsa-miR-3163	CLIP-seq
MIRT1100919	hsa-miR-3180-5p	CLIP-seq
MIRT1100920	hsa-miR-329	CLIP-seq
MIRT1100921	hsa-miR-330-3p	CLIP-seq
MIRT1100922	hsa-miR-345	CLIP-seq
MIRT1100923	hsa-miR-3545-3p	CLIP-seq
MIRT1100924	hsa-miR-3605-5p	CLIP-seq
MIRT1100925	hsa-miR-362-3p	CLIP-seq
MIRT1100926	hsa-miR-365	CLIP-seq
MIRT1100927	hsa-miR-3663-5p	CLIP-seq
MIRT1100928	hsa-miR-3679-5p	CLIP-seq
MIRT1100929	hsa-miR-3686	CLIP-seq
MIRT1100930	hsa-miR-3922-5p	CLIP-seq
MIRT1100931	hsa-miR-3941	CLIP-seq
MIRT1100932	hsa-miR-409-3p	CLIP-seq
MIRT1100933	hsa-miR-410	CLIP-seq
MIRT1100934	hsa-miR-4457	CLIP-seq
MIRT1100935	hsa-miR-4465	CLIP-seq
MIRT1100936	hsa-miR-4477a	CLIP-seq
MIRT1100937	hsa-miR-4506	CLIP-seq
MIRT1100938	hsa-miR-4635	CLIP-seq
MIRT1100939	hsa-miR-466	CLIP-seq
MIRT1100940	hsa-miR-4670-3p	CLIP-seq
MIRT1100941	hsa-miR-4672	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT1100943	hsa-miR-4693-3p	CLIP-seq
MIRT1100944	hsa-miR-4714-5p	CLIP-seq
MIRT1100945	hsa-miR-4753-5p	CLIP-seq
MIRT1100946	hsa-miR-4778-5p	CLIP-seq
MIRT1100947	hsa-miR-4803	CLIP-seq
MIRT1100948	hsa-miR-513b	CLIP-seq
MIRT1100949	hsa-miR-520a-5p	CLIP-seq
MIRT1100950	hsa-miR-520d-5p	CLIP-seq
MIRT1100951	hsa-miR-524-5p	CLIP-seq
MIRT1100952	hsa-miR-525-5p	CLIP-seq
MIRT1100953	hsa-miR-539	CLIP-seq
MIRT1100954	hsa-miR-548aa	CLIP-seq
MIRT1100955	hsa-miR-580	CLIP-seq
MIRT1100956	hsa-miR-590-5p	CLIP-seq
MIRT1100957	hsa-miR-603	CLIP-seq
MIRT1100958	hsa-miR-617	CLIP-seq
MIRT1100959	hsa-miR-656	CLIP-seq
MIRT1100960	hsa-miR-938	CLIP-seq
MIRT1100961	hsa-miR-944	CLIP-seq
MIRT1100962	hsa-miR-125a-3p	CLIP-seq
MIRT1100901	hsa-miR-1272	CLIP-seq
MIRT1100963	hsa-miR-1273g	CLIP-seq
MIRT1100964	hsa-miR-129-5p	CLIP-seq
MIRT1100903	hsa-miR-1297	CLIP-seq
MIRT1100965	hsa-miR-132	CLIP-seq
MIRT1100904	hsa-miR-1322	CLIP-seq
MIRT1100905	hsa-miR-193a-5p	CLIP-seq
MIRT1100966	hsa-miR-212	CLIP-seq
MIRT1100915	hsa-miR-26a	CLIP-seq
MIRT1100916	hsa-miR-26b	CLIP-seq
MIRT1100967	hsa-miR-299-3p	CLIP-seq
MIRT1100922	hsa-miR-345	CLIP-seq
MIRT1100968	hsa-miR-3658	CLIP-seq
MIRT1100969	hsa-miR-3671	CLIP-seq
MIRT1100970	hsa-miR-3921	CLIP-seq
MIRT1100971	hsa-miR-3934	CLIP-seq
MIRT1100972	hsa-miR-4272	CLIP-seq
MIRT1100973	hsa-miR-4454	CLIP-seq
MIRT1100935	hsa-miR-4465	CLIP-seq
MIRT1100974	hsa-miR-4491	CLIP-seq
MIRT1100937	hsa-miR-4506	CLIP-seq
MIRT1100975	hsa-miR-4653-5p	CLIP-seq
MIRT1100976	hsa-miR-4657	CLIP-seq
MIRT1100977	hsa-miR-4666-3p	CLIP-seq
MIRT1100944	hsa-miR-4714-5p	CLIP-seq
MIRT1100945	hsa-miR-4753-5p	CLIP-seq
MIRT1100978	hsa-miR-4762-5p	CLIP-seq
MIRT1100979	hsa-miR-4763-5p	CLIP-seq
MIRT1100980	hsa-miR-4766-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100982	hsa-miR-488	CLIP-seq
MIRT1100983	hsa-miR-548a-5p	CLIP-seq
MIRT1100984	hsa-miR-548ab	CLIP-seq
MIRT1100985	hsa-miR-548ak	CLIP-seq
MIRT1100986	hsa-miR-548b-5p	CLIP-seq
MIRT1100987	hsa-miR-548c-5p	CLIP-seq
MIRT1100988	hsa-miR-548d-5p	CLIP-seq
MIRT1100989	hsa-miR-548h	CLIP-seq
MIRT1100990	hsa-miR-548i	CLIP-seq
MIRT1100991	hsa-miR-548j	CLIP-seq
MIRT1100992	hsa-miR-548w	CLIP-seq
MIRT1100993	hsa-miR-548y	CLIP-seq
MIRT1100994	hsa-miR-559	CLIP-seq
MIRT1100995	hsa-miR-579	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq
MIRT1100997	hsa-miR-593	CLIP-seq
MIRT1100998	hsa-miR-607	CLIP-seq
MIRT1100958	hsa-miR-617	CLIP-seq
MIRT1100999	hsa-miR-764	CLIP-seq
MIRT1100961	hsa-miR-944	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT2027488	hsa-miR-106a	CLIP-seq
MIRT2027489	hsa-miR-106b	CLIP-seq
MIRT2027490	hsa-miR-1287	CLIP-seq
MIRT2027491	hsa-miR-150	CLIP-seq
MIRT2027492	hsa-miR-17	CLIP-seq
MIRT2027493	hsa-miR-197	CLIP-seq
MIRT2027494	hsa-miR-20a	CLIP-seq
MIRT2027495	hsa-miR-20b	CLIP-seq
MIRT1100906	hsa-miR-21	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2027497	hsa-miR-302a	CLIP-seq
MIRT2027498	hsa-miR-302b	CLIP-seq
MIRT2027499	hsa-miR-302c	CLIP-seq
MIRT2027500	hsa-miR-302d	CLIP-seq
MIRT2027501	hsa-miR-302e	CLIP-seq
MIRT2027502	hsa-miR-3129-3p	CLIP-seq
MIRT2027503	hsa-miR-3135b	CLIP-seq
MIRT2027504	hsa-miR-3187-3p	CLIP-seq
MIRT1100927	hsa-miR-3663-5p	CLIP-seq
MIRT2027505	hsa-miR-3674	CLIP-seq
MIRT2027506	hsa-miR-372	CLIP-seq
MIRT2027507	hsa-miR-373	CLIP-seq
MIRT2027508	hsa-miR-3926	CLIP-seq
MIRT2027509	hsa-miR-423-3p	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2027511	hsa-miR-4435	CLIP-seq
MIRT2027512	hsa-miR-4701-5p	CLIP-seq
MIRT2027513	hsa-miR-4716-5p	CLIP-seq
MIRT2027514	hsa-miR-4732-5p	CLIP-seq
MIRT2027515	hsa-miR-4755-3p	CLIP-seq
MIRT1100978	hsa-miR-4762-5p	CLIP-seq
MIRT2027516	hsa-miR-4781-3p	CLIP-seq
MIRT2027517	hsa-miR-4792	CLIP-seq
MIRT2027518	hsa-miR-5095	CLIP-seq
MIRT2027519	hsa-miR-5096	CLIP-seq
MIRT2027520	hsa-miR-512-3p	CLIP-seq
MIRT2027521	hsa-miR-519d	CLIP-seq
MIRT2027522	hsa-miR-520a-3p	CLIP-seq
MIRT2027523	hsa-miR-520b	CLIP-seq
MIRT2027524	hsa-miR-520c-3p	CLIP-seq
MIRT2027525	hsa-miR-520d-3p	CLIP-seq
MIRT2027526	hsa-miR-520e	CLIP-seq
MIRT2027527	hsa-miR-520g	CLIP-seq
MIRT2027528	hsa-miR-520h	CLIP-seq
MIRT1100983	hsa-miR-548a-5p	CLIP-seq
MIRT1100984	hsa-miR-548ab	CLIP-seq
MIRT1100985	hsa-miR-548ak	CLIP-seq
MIRT1100986	hsa-miR-548b-5p	CLIP-seq
MIRT1100987	hsa-miR-548c-5p	CLIP-seq
MIRT1100988	hsa-miR-548d-5p	CLIP-seq
MIRT1100989	hsa-miR-548h	CLIP-seq
MIRT1100990	hsa-miR-548i	CLIP-seq
MIRT1100991	hsa-miR-548j	CLIP-seq
MIRT2027529	hsa-miR-548n	CLIP-seq
MIRT2027530	hsa-miR-548s	CLIP-seq
MIRT1100992	hsa-miR-548w	CLIP-seq
MIRT1100993	hsa-miR-548y	CLIP-seq
MIRT1100994	hsa-miR-559	CLIP-seq
MIRT2027531	hsa-miR-588	CLIP-seq
MIRT1100956	hsa-miR-590-5p	CLIP-seq
MIRT2027532	hsa-miR-93	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT1100973	hsa-miR-4454	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT1100979	hsa-miR-4763-5p	CLIP-seq
MIRT1100942	hsa-miR-4680-5p	CLIP-seq
MIRT1100954	hsa-miR-548aa	CLIP-seq
MIRT2559495	hsa-miR-1343	CLIP-seq
MIRT2559496	hsa-miR-142-5p	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2559497	hsa-miR-3149	CLIP-seq
MIRT2559498	hsa-miR-320a	CLIP-seq
MIRT2559499	hsa-miR-320b	CLIP-seq
MIRT2559500	hsa-miR-320c	CLIP-seq
MIRT2559501	hsa-miR-320d	CLIP-seq
MIRT2559502	hsa-miR-340	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2559503	hsa-miR-4429	CLIP-seq
MIRT2559504	hsa-miR-4503	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT2559505	hsa-miR-4735-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq
MIRT2559506	hsa-miR-629	CLIP-seq
MIRT2559496	hsa-miR-142-5p	CLIP-seq
MIRT2027496	hsa-miR-24	CLIP-seq
MIRT2559498	hsa-miR-320a	CLIP-seq
MIRT2559499	hsa-miR-320b	CLIP-seq
MIRT2559500	hsa-miR-320c	CLIP-seq
MIRT2559501	hsa-miR-320d	CLIP-seq
MIRT2559502	hsa-miR-340	CLIP-seq
MIRT2258816	hsa-miR-4258	CLIP-seq
MIRT2027510	hsa-miR-4284	CLIP-seq
MIRT2559503	hsa-miR-4429	CLIP-seq
MIRT2258817	hsa-miR-4707-3p	CLIP-seq
MIRT2559505	hsa-miR-4735-5p	CLIP-seq
MIRT1100981	hsa-miR-4775	CLIP-seq
MIRT1100996	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	20616044
GO:0003158	Process	Endothelium development	NAS	17657516
GO:0005515	Function	Protein binding	IPI	16037064, 17657516, 17916086, 20332120, 23007647, 25525273, 25814554, 25910212, 26780829, 27027284, 32296183, 33961781
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	17916086
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17916086
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IDA	20332120, 23007647
GO:0007264	Process	Small GTPase-mediated signal transduction	TAS	9285558
GO:0008017	Function	Microtubule binding	IDA	17916086
GO:0010596	Process	Negative regulation of endothelial cell migration	IMP	20616044
GO:0016020	Component	Membrane	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IBA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	20616044
GO:0030695	Function	GTPase regulator activity	IEA
GO:0030695	Function	GTPase regulator activity	TAS	9285558
GO:0032991	Component	Protein-containing complex	IEA
GO:0033622	Process	Integrin activation	IDA	23317506
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	IMP	20668652
GO:0045765	Process	Regulation of angiogenesis	NAS	17657516
GO:0070161	Component	Anchoring junction	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	IBA
GO:2000114	Process	Regulation of establishment of cell polarity	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	IMP	20332120
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	20616044

Other IDs

• MIM: 604214
• HGNC: 1573
• e!Ensembl: ENSG00000001631

Protein

• UniProt ID: O00522
• Protein name: Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein)
• Protein function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sp
• PDB: 3U7D, 4DX8, 4DXA, 4HDO, 4HDQ, 4JIF, 4TKN, 5D68, 6OQ3, 6OQ4, 6UZK, 8SU8, 8T09, 8T7V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16705	NUDIX_5	22 → 198	NUDIX, or N-terminal NPxY motif-rich, region of KRIT	Domain
  PF00023	Ank	320 → 352	Ankyrin repeat	Repeat
  PF00373	FERM_M	517 → 640	FERM central domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Low levels in brain. Very weak expression found in heart and muscle. {ECO:0000269|PubMed:9285558}.
• Sequence:

  MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQG
  NSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDN
  TKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRP
  SPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQY
  TNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
  SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLH
  FAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE
  KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKP
  LQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLL
  KGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
  ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYV
  GVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVK
  LLMKLNGQLMPTERNS

• Sequence length: 736

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
Cavernous hemangioma	Likely pathogenic; Pathogenic	rs1554518790, rs1554527169	RCV000626869 RCV000626868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation	Pathogenic; Likely pathogenic	rs2131087886, rs2131089190, rs2131307481, rs1563245596, rs2131437372, rs2131452462, rs2131454006, rs2131454682, rs2131510638, rs1796087833, rs2131526298, rs2131676374, rs751651833, rs1799516672, rs886039401, rs1350475816, rs2131307878, rs2131326892, rs747380313, rs2131454847, rs2131526402, rs1798246011, rs2131455281, rs2131088062, rs2131511667, rs2131773689, rs2131316175, rs2131326255, rs1554513911, rs2131511337, rs776245507, rs1563305269, rs2131308345, rs2131662142, rs2131315805, rs2131453888, rs2131087593, rs2131643055, rs2131088953, rs2131662647, rs2131326123, rs2131309299, rs2131525596, rs2131325903, rs2131647862, rs2131510675, rs2131527403, rs2131089744, rs2131435199, rs140072597, rs2535727492, rs2536012456, rs2536003312, rs2535703262, rs1307397097, rs2535886590, rs2536042735, rs2535507304, rs2535885308, rs2535716449, rs2536025886, rs2131309013, rs267607203, rs1563302930, rs137853139, rs137853140, rs267607204, rs2535886252, rs2536012401, rs2535871507, rs2536104286, rs1418677221, rs2535715547, rs2536042810, rs2536102793, rs2535715081, rs2536012310, rs1348650457, rs1490051866, rs2535705315, rs2535725121, rs2535715463, rs1563305909, rs886039572, rs886039571, rs886039402, rs886039659, rs886039400, rs886041209, rs886043300, rs2535727506, rs756534000, rs2536004935, rs2535726892, rs1554529341, rs2535518758, rs2536003869, rs1563301305, rs2536005944, rs2535517960, rs2535873179, rs2535833397, rs2535703286, rs2535705254, rs2535706411, rs569733779, rs2535871479, rs2536005244, rs2535518733, rs2536106288, rs2535716674, rs2535820956, rs1554528541, rs2535818867, rs2535872041, rs2535514417, rs2535518473, rs2535716202, rs2536005162, rs1057517753, rs1057517754, rs1057518665, rs965713946, rs1064793348, rs1554518386, rs1554502927, rs1554503009, rs1554518541, rs1554503702, rs757560062, rs1554504484, rs1554513061, rs1554489785, rs1554518783, rs1554527779, rs1554539120, rs1180476377, rs1331502949, rs1554527817, rs1554527925, rs1554504519, rs1554512658, rs1554513070, rs1554514380, rs1554527032, rs1554490317, rs771656368, rs1554527169, rs1554518750, rs1326827713, rs1554527922, rs1563301954, rs1563263905, rs1563266147, rs1468613071, rs1563275562, rs1563244629, rs1563211627, rs1563212150, rs1041438637, rs1563239833, rs1563240592, rs1563243016, rs1563244596, rs1563244618, rs1563244807, rs549591728, rs1563263366, rs1563264113, rs1563265959, rs1563266163, rs1563266658, rs1563267100, rs779465895, rs780114710, rs764960797, rs1563302941, rs1563302951, rs1563305064, rs1563305648, rs866982998, rs1563313372, rs1584800138, rs1584873058, rs1584881309, rs1584975743, rs1584976350, rs1584981589, rs1584807148, rs1790085048, rs1790098079, rs997111087, rs1795435288, rs1798067945, rs1798228728, rs1798241938, rs777198867, rs1790081665, rs1795437460, rs1793298143, rs1799515896, rs1795413179, rs1795430058, rs1797999551, rs1798258547, rs1790094262, rs1793254982, rs1796247872, rs1793304372	RCV001387454 RCV001388000 RCV001389076 RCV001380341 RCV001382575 RCV001388177 RCV001380312 RCV001381084 RCV001389497 RCV001385875 RCV001384331 RCV001384337 RCV001387434 RCV001382706 RCV001859366 RCV001844368 RCV001724743 RCV001728076 RCV001775286 RCV003633597 RCV001808167 RCV001965331 RCV001893428 RCV001864103 RCV001994524 RCV002037653 RCV002037712 RCV001941763 RCV001961923 RCV001958875 RCV001963065 RCV001919689 RCV001945591 RCV001946101 RCV002004435 RCV002000050 RCV001916221 RCV001962706 RCV001993373 RCV002007450 RCV001949093 RCV002002505 RCV001939354 RCV001960529 RCV001993487 RCV001956262 RCV001953539 RCV001951321 RCV001876581 RCV002471259 RCV004594625 RCV003523125 RCV002289378 RCV002290168 RCV002468737 RCV002468738 RCV003060121 RCV003037235 RCV002819546 RCV002820354 RCV002835249 RCV002835251 RCV002833812 RCV002512817 RCV000239441 RCV003444193 RCV001822994 RCV003522917 RCV000239438 RCV002889161 RCV002872141 RCV002881566 RCV002858198 RCV002847419 RCV002858372 RCV002866991 RCV002867882 RCV002994722 RCV002991544 RCV003019654 RCV003020296 RCV003035251 RCV003035104 RCV003051684 RCV003224698 RCV001065731 RCV001808723 RCV000552103 RCV002518752 RCV003144183 RCV000808275 RCV001217342 RCV000392041 RCV003387583 RCV003445411 RCV003523949 RCV003523222 RCV003524026 RCV003524088 RCV003524213 RCV003522230 RCV003524200 RCV003524137 RCV003524882 RCV003523653 RCV003525294 RCV003525295 RCV003525296 RCV003525297 RCV003525298 RCV003525299 RCV003525300 RCV003525301 RCV003524788 RCV003524521 RCV003634822 RCV003634928 RCV003635123 RCV003635347 RCV003633060 RCV003635387 RCV003633098 RCV003989051 RCV004560374 RCV000816950 RCV002470851 RCV000415415 RCV002524828 RCV001856823 RCV000593246 RCV000595798 RCV001381101 RCV000547853 RCV001065756 RCV005235372 RCV001857981 RCV003766963 RCV000559053 RCV000558177 RCV000559834 RCV000526370 RCV000542725 RCV000536000 RCV000552882 RCV000539490 RCV000525590 RCV000549458 RCV000546982 RCV000529814 RCV000545634 RCV000532224 RCV000798671 RCV001061598 RCV000624958 RCV000624959 RCV001007911 RCV001855338 RCV000644429 RCV000644430 RCV000681478 RCV000699269 RCV000703496 RCV000686360 RCV000686135 RCV000693414 RCV001239359 RCV003633535 RCV003523019 RCV005092118 RCV002067078 RCV005092116 RCV001066958 RCV003523018 RCV001868915 RCV003523017 RCV001385873 RCV001071022 RCV003523016 RCV001862106 RCV000814128 RCV001385874 RCV001038518 RCV003523015 RCV005092120 RCV001862108 RCV001241794 RCV001868916 RCV002535018 RCV001380231 RCV001211745 RCV002535017 RCV005092119 RCV000803135 RCV000821099 RCV000809461 RCV000805011 RCV000810646 RCV000808889 RCV000817555 RCV000851319 RCV000985202 RCV001043063 RCV001049339 RCV001051618 RCV001049427 RCV001041563 RCV001065572 RCV001063076 RCV001045097 RCV001062410 RCV001061102 RCV001050074 RCV001065715 RCV001197020 RCV001214816 RCV001212104 RCV001205466 RCV001211757 RCV001212146 RCV001229356 RCV001244933 RCV001243839 RCV001246709	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral cavernous malformation 1	Likely pathogenic; Pathogenic	rs2131435199, rs2536005737, rs2536003797, rs2131309013, rs2131308132, rs2131309179, rs267607203, rs1563302930, rs137853139, rs137853140, rs267607204, rs886041209, rs1180476377	RCV002225242 RCV002472008 RCV002472208 RCV000006072 RCV000006073 RCV000006074 RCV000006075 RCV000006077 RCV000006079 RCV000006080 RCV000006082 RCV005600886 RCV001807642	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cavernous hemangioma of brain	Pathogenic	rs886039400, rs1057517753	RCV003993910 RCV003447526	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	Pathogenic	rs2131660732	RCV001807487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KRIT1-related disorder	Pathogenic; Likely pathogenic	rs776245507, rs2536012456, rs267607203, rs886039402, rs886039400, rs1462431994, rs2536012090, rs776024669, rs2535727004, rs1057518665, rs1331502949, rs1554514380, rs779465895	RCV003479375 RCV004731259 RCV004547460 RCV004547646 RCV004547645 RCV004548597 RCV004550657 RCV004550585 RCV004548990 RCV004755910 RCV004553228 RCV004553229 RCV004547916	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiokeratoma corporis diffusum with arteriovenous fistulas	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAVERNOUS HEMANGIOMA OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAVERNOUS MALFORMATIONS OF CNS AND RETINA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILILAL CEREBRAL CAVERNOUS MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	8169749		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	26824338		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	9374166		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	20007487		★☆☆☆☆ Found in Text Mining only
Adult onset autosomal dominant leukodystrophy	Leukodystrophy	BEFREE	19725832		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	14755370		★☆☆☆☆ Found in Text Mining only
Angioma	Angioma	BEFREE	17440989		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31590384		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22922958, 29609944		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31590384		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11033343		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	8758907		★☆☆☆☆ Found in Text Mining only
Blue rubber bleb nevus syndrome	Blue Rubber Bleb Nevus	BEFREE	11959162		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24401931	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	36629374	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11964043, 1690316, 1793731, 19787228, 9284823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35431232	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19787228, 8169749		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	8758907		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26761817		★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	10082134, 1490146, 24509172, 30168728, 31738061, 7955125		★☆☆☆☆ Found in Text Mining only
Cavernous Angioma, Central Nervous System	Cavernous Angioma, Central Nervous System	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cavernous hemangioma of retina	Cavernous Hemangioma Of Retina	BEFREE	17148043, 20306072		★☆☆☆☆ Found in Text Mining only
Cavernous hemangioma of retina	Cavernous Hemangioma Of Retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cavernous Hemangioma, Extracerebral	Cavernous hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cavernous Hemangioma, Intracerebral	Cavernous hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	7969799		★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Hemangioma	Cerebral Cavernous Hemangioma	BEFREE	17148043		★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Hemangioma	Cerebral Cavernous Hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Malformations 1	Cerebral Cavernous Malformation	BEFREE	12172908, 15934180, 18300272, 22378217, 23506982, 25900426, 27737651, 30314744, 31369819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Cavernous Malformations 1	Cerebral Cavernous Malformation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	BEFREE	17041941, 23485406, 24058906, 25525273, 30476961		★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation	Pubtator	25525273	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Malformations 3	Cerebral Cavernous Malformation	BEFREE	22378217, 23748444, 24058906, 26122242, 28285997, 30476961		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	24291398, 29170092, 30658464, 31590384		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	26795600	Associate	★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	10696830		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	29970262		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17699774, 8396566		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	8169749		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28921242		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19212205		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28974401		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	27108353, 27251666, 28039082, 28173895, 28903799, 28947274, 29103316, 29171992, 29370764, 30506177, 30664239, 30804030, 30899957, 30920404, 31127777, 31467255, 31605539, 31695347		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15820228		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	30192352		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30851892		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22699465		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22699465	Associate	★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral Cavernous Malformation	BEFREE	15046662, 27649701, 28160210, 28255959, 29169046, 31254430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cerebral cavernous malformation	Cerebral Cavernous Malformation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cerebral cavernous malformation	Cerebral cavernous malformation	Pubtator	22699465, 24265337, 24401931, 25472749, 25556204, 26795600, 28318403, 29145060, 36580209, 36629374, 38420834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	22200632		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31331555		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10697494, 29228563		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10697494, 29228563		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16322240		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	12296684		★☆☆☆☆ Found in Text Mining only
Hemangioma of choroid	Hemangioma Of Choroid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	BEFREE	12172908, 28867399, 31446620		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	LHGDN	12877753, 17148043		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous, Central Nervous System	Hemangioma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33891857	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	24684205	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	12820004		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	3297787		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS PREMATURITY SYNDROME	ICHTHYOSIS PREMATURITY SYNDROME	BEFREE	29605190		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11033343		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31164492	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	12820004		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31820195		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	27599538		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	26341817, 27840970, 28395594		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	26341817, 28395594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28488085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11313949, 11964043, 1793731, 19787228, 9704623		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30851892		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	22200632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21880579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26761817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10597733, 7796410, 8758907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	15278364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24796534		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	8758907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1706237, 21880579, 22889191, 30552257, 30834992, 30935516, 31331555		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17699774, 8396566		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	28533307		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	BEFREE	7562969		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11498790, 12823444, 1469290, 29763480, 31826047, 9284823		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15820228		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	7955125		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	11255016		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10696830		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33891857	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14633719, 1706237, 23760401, 24037419, 26453405, 26710889, 27189701, 27258734, 28238095, 31540771, 9436925		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24430173		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10597733, 10697494, 11222804, 11313949, 11914398, 11964043, 15509522, 1706237, 17546603, 17952127, 19787228, 20421925, 21602664, 22889191, 23000338, 23527098, 23872064, 24509172, 24703465, 27498840, 28634389, 28838999, 29133037, 29228563, 29763480, 30170067, 7542254, 7796410, 8188295, 8758907, 9284823, 9374166		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10495434, 24509172, 2471777, 27498840		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	28867399		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24401931		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	18651096		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26761817		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	31442521		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10597733, 7796410, 8758907		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	10495434, 21880579		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10495434		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31820195		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31331555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	10696830, 11033343, 11681838, 20157312, 9098580		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17440989		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31331855		★☆☆☆☆ Found in Text Mining only
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	BEFREE	29426010		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20421925, 8075973		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	7562969		★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	20157312		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31517842		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24796534		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32106772, 36580209	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28838999		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	31560737		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19212205		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19182478, 28181149	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28811547		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	19182478	Associate	★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	29720499		★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	7562969, 9195224		★☆☆☆☆ Found in Text Mining only