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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	1495
Gene name	Catenin alpha 1
Gene symbol	CTNNA1
Synonyms (NCBI Gene)	CAP102MDBS2MDPT2
Chromosome	5
Chromosome location	5q31.2
Summary	This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs755215402	T>A,C,G	Pathogenic, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, synonymous variant
rs869312766	TGAA>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs869320696	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869320697	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554085478	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020722	hsa-miR-155-5p	Proteomics	18668040
MIRT039674	hsa-miR-615-3p	CLASH	23622248
MIRT039085	hsa-miR-769-3p	CLASH	23622248
MIRT038473	hsa-miR-296-3p	CLASH	23622248
MIRT037739	hsa-miR-744-5p	CLASH	23622248
MIRT440863	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440863	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT914821	hsa-miR-101	CLIP-seq
MIRT914822	hsa-miR-103a	CLIP-seq
MIRT914823	hsa-miR-107	CLIP-seq
MIRT914824	hsa-miR-1183	CLIP-seq
MIRT914825	hsa-miR-1184	CLIP-seq
MIRT914826	hsa-miR-1225-3p	CLIP-seq
MIRT914827	hsa-miR-1234	CLIP-seq
MIRT914828	hsa-miR-1285	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT914830	hsa-miR-1292	CLIP-seq
MIRT914831	hsa-miR-134	CLIP-seq
MIRT914832	hsa-miR-139-5p	CLIP-seq
MIRT914833	hsa-miR-141	CLIP-seq
MIRT914834	hsa-miR-144	CLIP-seq
MIRT914835	hsa-miR-183	CLIP-seq
MIRT914836	hsa-miR-200a	CLIP-seq
MIRT914837	hsa-miR-2115	CLIP-seq
MIRT914838	hsa-miR-299-3p	CLIP-seq
MIRT914839	hsa-miR-3118	CLIP-seq
MIRT914840	hsa-miR-3136-5p	CLIP-seq
MIRT914841	hsa-miR-3137	CLIP-seq
MIRT914842	hsa-miR-3145-3p	CLIP-seq
MIRT914843	hsa-miR-3153	CLIP-seq
MIRT914844	hsa-miR-3180	CLIP-seq
MIRT914845	hsa-miR-3180-3p	CLIP-seq
MIRT914846	hsa-miR-3187-5p	CLIP-seq
MIRT914847	hsa-miR-3192	CLIP-seq
MIRT914848	hsa-miR-3196	CLIP-seq
MIRT914849	hsa-miR-3199	CLIP-seq
MIRT914850	hsa-miR-323-3p	CLIP-seq
MIRT914851	hsa-miR-34b	CLIP-seq
MIRT914852	hsa-miR-34c-3p	CLIP-seq
MIRT914853	hsa-miR-3591-5p	CLIP-seq
MIRT914854	hsa-miR-3681	CLIP-seq
MIRT914855	hsa-miR-376a	CLIP-seq
MIRT914856	hsa-miR-376b	CLIP-seq
MIRT914857	hsa-miR-3925-3p	CLIP-seq
MIRT914858	hsa-miR-4261	CLIP-seq
MIRT914859	hsa-miR-4280	CLIP-seq
MIRT914860	hsa-miR-4297	CLIP-seq
MIRT914861	hsa-miR-4314	CLIP-seq
MIRT914862	hsa-miR-4320	CLIP-seq
MIRT914863	hsa-miR-4418	CLIP-seq
MIRT914864	hsa-miR-4426	CLIP-seq
MIRT914865	hsa-miR-4433	CLIP-seq
MIRT914866	hsa-miR-4439	CLIP-seq
MIRT914867	hsa-miR-4440	CLIP-seq
MIRT914868	hsa-miR-4447	CLIP-seq
MIRT914869	hsa-miR-4459	CLIP-seq
MIRT914870	hsa-miR-4471	CLIP-seq
MIRT914871	hsa-miR-4472	CLIP-seq
MIRT914872	hsa-miR-4477a	CLIP-seq
MIRT914873	hsa-miR-4488	CLIP-seq
MIRT914874	hsa-miR-4513	CLIP-seq
MIRT914875	hsa-miR-4642	CLIP-seq
MIRT914876	hsa-miR-4646-5p	CLIP-seq
MIRT914877	hsa-miR-4647	CLIP-seq
MIRT914878	hsa-miR-4648	CLIP-seq
MIRT914879	hsa-miR-4651	CLIP-seq
MIRT914880	hsa-miR-4654	CLIP-seq
MIRT914881	hsa-miR-4658	CLIP-seq
MIRT914882	hsa-miR-4662b	CLIP-seq
MIRT914883	hsa-miR-4668-5p	CLIP-seq
MIRT914884	hsa-miR-4670-3p	CLIP-seq
MIRT914885	hsa-miR-4685-5p	CLIP-seq
MIRT914886	hsa-miR-4697-5p	CLIP-seq
MIRT914887	hsa-miR-4705	CLIP-seq
MIRT914888	hsa-miR-4719	CLIP-seq
MIRT914889	hsa-miR-4726-3p	CLIP-seq
MIRT914890	hsa-miR-4753-3p	CLIP-seq
MIRT914891	hsa-miR-4758-5p	CLIP-seq
MIRT914892	hsa-miR-4760-3p	CLIP-seq
MIRT914893	hsa-miR-4765	CLIP-seq
MIRT914894	hsa-miR-4766-3p	CLIP-seq
MIRT914895	hsa-miR-4768-3p	CLIP-seq
MIRT914896	hsa-miR-4769-5p	CLIP-seq
MIRT914897	hsa-miR-4781-3p	CLIP-seq
MIRT914898	hsa-miR-4799-5p	CLIP-seq
MIRT914899	hsa-miR-503	CLIP-seq
MIRT914900	hsa-miR-509-3-5p	CLIP-seq
MIRT914901	hsa-miR-509-5p	CLIP-seq
MIRT914902	hsa-miR-515-5p	CLIP-seq
MIRT914903	hsa-miR-516a-3p	CLIP-seq
MIRT914904	hsa-miR-532-5p	CLIP-seq
MIRT914905	hsa-miR-548ag	CLIP-seq
MIRT914906	hsa-miR-548ai	CLIP-seq
MIRT914907	hsa-miR-548p	CLIP-seq
MIRT914908	hsa-miR-579	CLIP-seq
MIRT914909	hsa-miR-586	CLIP-seq
MIRT914910	hsa-miR-608	CLIP-seq
MIRT914911	hsa-miR-612	CLIP-seq
MIRT914912	hsa-miR-659	CLIP-seq
MIRT914913	hsa-miR-661	CLIP-seq
MIRT914914	hsa-miR-664	CLIP-seq
MIRT914915	hsa-miR-766	CLIP-seq
MIRT914916	hsa-miR-769-5p	CLIP-seq
MIRT914917	hsa-miR-891b	CLIP-seq
MIRT914918	hsa-miR-9	CLIP-seq
MIRT914919	hsa-miR-944	CLIP-seq
MIRT1547675	hsa-miR-1269	CLIP-seq
MIRT1547676	hsa-miR-1269b	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT1547677	hsa-miR-378	CLIP-seq
MIRT1547678	hsa-miR-378b	CLIP-seq
MIRT1547679	hsa-miR-378c	CLIP-seq
MIRT1547680	hsa-miR-378d	CLIP-seq
MIRT1547681	hsa-miR-378e	CLIP-seq
MIRT1547682	hsa-miR-378f	CLIP-seq
MIRT1547683	hsa-miR-378h	CLIP-seq
MIRT1547684	hsa-miR-378i	CLIP-seq
MIRT1547685	hsa-miR-422a	CLIP-seq
MIRT1547686	hsa-miR-4515	CLIP-seq
MIRT1547687	hsa-miR-4740-5p	CLIP-seq
MIRT914821	hsa-miR-101	CLIP-seq
MIRT914822	hsa-miR-103a	CLIP-seq
MIRT914823	hsa-miR-107	CLIP-seq
MIRT914824	hsa-miR-1183	CLIP-seq
MIRT914825	hsa-miR-1184	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT1971390	hsa-miR-133a	CLIP-seq
MIRT1971391	hsa-miR-133b	CLIP-seq
MIRT914832	hsa-miR-139-5p	CLIP-seq
MIRT1971392	hsa-miR-140-3p	CLIP-seq
MIRT914833	hsa-miR-141	CLIP-seq
MIRT914834	hsa-miR-144	CLIP-seq
MIRT914836	hsa-miR-200a	CLIP-seq
MIRT914837	hsa-miR-2115	CLIP-seq
MIRT1971393	hsa-miR-2276	CLIP-seq
MIRT914838	hsa-miR-299-3p	CLIP-seq
MIRT1971394	hsa-miR-3123	CLIP-seq
MIRT1971395	hsa-miR-3130-3p	CLIP-seq
MIRT914842	hsa-miR-3145-3p	CLIP-seq
MIRT1971396	hsa-miR-3190	CLIP-seq
MIRT914849	hsa-miR-3199	CLIP-seq
MIRT914850	hsa-miR-323-3p	CLIP-seq
MIRT1971397	hsa-miR-325	CLIP-seq
MIRT1971398	hsa-miR-339-5p	CLIP-seq
MIRT914851	hsa-miR-34b	CLIP-seq
MIRT1971399	hsa-miR-3613-5p	CLIP-seq
MIRT914855	hsa-miR-376a	CLIP-seq
MIRT914856	hsa-miR-376b	CLIP-seq
MIRT1971400	hsa-miR-3925-5p	CLIP-seq
MIRT1971401	hsa-miR-3976	CLIP-seq
MIRT914858	hsa-miR-4261	CLIP-seq
MIRT1971402	hsa-miR-4282	CLIP-seq
MIRT1971403	hsa-miR-4302	CLIP-seq
MIRT914862	hsa-miR-4320	CLIP-seq
MIRT1971404	hsa-miR-4328	CLIP-seq
MIRT914863	hsa-miR-4418	CLIP-seq
MIRT914864	hsa-miR-4426	CLIP-seq
MIRT1971405	hsa-miR-4446-5p	CLIP-seq
MIRT914872	hsa-miR-4477a	CLIP-seq
MIRT1971406	hsa-miR-4637	CLIP-seq
MIRT914877	hsa-miR-4647	CLIP-seq
MIRT914878	hsa-miR-4648	CLIP-seq
MIRT914880	hsa-miR-4654	CLIP-seq
MIRT914881	hsa-miR-4658	CLIP-seq
MIRT914882	hsa-miR-4662b	CLIP-seq
MIRT914884	hsa-miR-4670-3p	CLIP-seq
MIRT914888	hsa-miR-4719	CLIP-seq
MIRT914889	hsa-miR-4726-3p	CLIP-seq
MIRT1971407	hsa-miR-4729	CLIP-seq
MIRT914890	hsa-miR-4753-3p	CLIP-seq
MIRT1971408	hsa-miR-4755-5p	CLIP-seq
MIRT914891	hsa-miR-4758-5p	CLIP-seq
MIRT914892	hsa-miR-4760-3p	CLIP-seq
MIRT914893	hsa-miR-4765	CLIP-seq
MIRT914894	hsa-miR-4766-3p	CLIP-seq
MIRT914896	hsa-miR-4769-5p	CLIP-seq
MIRT914897	hsa-miR-4781-3p	CLIP-seq
MIRT914898	hsa-miR-4799-5p	CLIP-seq
MIRT914899	hsa-miR-503	CLIP-seq
MIRT914900	hsa-miR-509-3-5p	CLIP-seq
MIRT914901	hsa-miR-509-5p	CLIP-seq
MIRT914903	hsa-miR-516a-3p	CLIP-seq
MIRT1971409	hsa-miR-544	CLIP-seq
MIRT914905	hsa-miR-548ag	CLIP-seq
MIRT914906	hsa-miR-548ai	CLIP-seq
MIRT914907	hsa-miR-548p	CLIP-seq
MIRT914908	hsa-miR-579	CLIP-seq
MIRT914909	hsa-miR-586	CLIP-seq
MIRT1971410	hsa-miR-628-3p	CLIP-seq
MIRT914912	hsa-miR-659	CLIP-seq
MIRT914914	hsa-miR-664	CLIP-seq
MIRT1971411	hsa-miR-670	CLIP-seq
MIRT914918	hsa-miR-9	CLIP-seq
MIRT914919	hsa-miR-944	CLIP-seq
MIRT914821	hsa-miR-101	CLIP-seq
MIRT914822	hsa-miR-103a	CLIP-seq
MIRT914823	hsa-miR-107	CLIP-seq
MIRT914824	hsa-miR-1183	CLIP-seq
MIRT914825	hsa-miR-1184	CLIP-seq
MIRT914826	hsa-miR-1225-3p	CLIP-seq
MIRT2206976	hsa-miR-1231	CLIP-seq
MIRT2206977	hsa-miR-1233	CLIP-seq
MIRT1547675	hsa-miR-1269	CLIP-seq
MIRT1547676	hsa-miR-1269b	CLIP-seq
MIRT2206978	hsa-miR-1272	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT914830	hsa-miR-1292	CLIP-seq
MIRT914831	hsa-miR-134	CLIP-seq
MIRT914832	hsa-miR-139-5p	CLIP-seq
MIRT914833	hsa-miR-141	CLIP-seq
MIRT914834	hsa-miR-144	CLIP-seq
MIRT914836	hsa-miR-200a	CLIP-seq
MIRT2206979	hsa-miR-204	CLIP-seq
MIRT2206980	hsa-miR-211	CLIP-seq
MIRT1971393	hsa-miR-2276	CLIP-seq
MIRT2206981	hsa-miR-2355-3p	CLIP-seq
MIRT914838	hsa-miR-299-3p	CLIP-seq
MIRT914839	hsa-miR-3118	CLIP-seq
MIRT2206982	hsa-miR-3120-5p	CLIP-seq
MIRT1971394	hsa-miR-3123	CLIP-seq
MIRT1971395	hsa-miR-3130-3p	CLIP-seq
MIRT914840	hsa-miR-3136-5p	CLIP-seq
MIRT914841	hsa-miR-3137	CLIP-seq
MIRT914842	hsa-miR-3145-3p	CLIP-seq
MIRT2206983	hsa-miR-3174	CLIP-seq
MIRT914847	hsa-miR-3192	CLIP-seq
MIRT914850	hsa-miR-323-3p	CLIP-seq
MIRT1971397	hsa-miR-325	CLIP-seq
MIRT914851	hsa-miR-34b	CLIP-seq
MIRT914852	hsa-miR-34c-3p	CLIP-seq
MIRT1971399	hsa-miR-3613-5p	CLIP-seq
MIRT2206984	hsa-miR-371-5p	CLIP-seq
MIRT2206985	hsa-miR-371b-5p	CLIP-seq
MIRT1547677	hsa-miR-378	CLIP-seq
MIRT1547678	hsa-miR-378b	CLIP-seq
MIRT1547679	hsa-miR-378c	CLIP-seq
MIRT1547680	hsa-miR-378d	CLIP-seq
MIRT1547681	hsa-miR-378e	CLIP-seq
MIRT1547682	hsa-miR-378f	CLIP-seq
MIRT1547683	hsa-miR-378h	CLIP-seq
MIRT1547684	hsa-miR-378i	CLIP-seq
MIRT914857	hsa-miR-3925-3p	CLIP-seq
MIRT1971400	hsa-miR-3925-5p	CLIP-seq
MIRT2206986	hsa-miR-3938	CLIP-seq
MIRT2206987	hsa-miR-3945	CLIP-seq
MIRT1971401	hsa-miR-3976	CLIP-seq
MIRT1547685	hsa-miR-422a	CLIP-seq
MIRT2206988	hsa-miR-4253	CLIP-seq
MIRT914858	hsa-miR-4261	CLIP-seq
MIRT2206989	hsa-miR-4274	CLIP-seq
MIRT914860	hsa-miR-4297	CLIP-seq
MIRT1971403	hsa-miR-4302	CLIP-seq
MIRT2206990	hsa-miR-4307	CLIP-seq
MIRT914861	hsa-miR-4314	CLIP-seq
MIRT914862	hsa-miR-4320	CLIP-seq
MIRT1971404	hsa-miR-4328	CLIP-seq
MIRT2206991	hsa-miR-433	CLIP-seq
MIRT914863	hsa-miR-4418	CLIP-seq
MIRT914866	hsa-miR-4439	CLIP-seq
MIRT914870	hsa-miR-4471	CLIP-seq
MIRT914872	hsa-miR-4477a	CLIP-seq
MIRT914874	hsa-miR-4513	CLIP-seq
MIRT1547686	hsa-miR-4515	CLIP-seq
MIRT1971406	hsa-miR-4637	CLIP-seq
MIRT2206992	hsa-miR-4638-3p	CLIP-seq
MIRT914875	hsa-miR-4642	CLIP-seq
MIRT2206993	hsa-miR-4646-3p	CLIP-seq
MIRT914876	hsa-miR-4646-5p	CLIP-seq
MIRT914878	hsa-miR-4648	CLIP-seq
MIRT914880	hsa-miR-4654	CLIP-seq
MIRT914881	hsa-miR-4658	CLIP-seq
MIRT2206994	hsa-miR-4659a-3p	CLIP-seq
MIRT2206995	hsa-miR-4659b-3p	CLIP-seq
MIRT914884	hsa-miR-4670-3p	CLIP-seq
MIRT914885	hsa-miR-4685-5p	CLIP-seq
MIRT914887	hsa-miR-4705	CLIP-seq
MIRT914888	hsa-miR-4719	CLIP-seq
MIRT1971407	hsa-miR-4729	CLIP-seq
MIRT1547687	hsa-miR-4740-5p	CLIP-seq
MIRT914890	hsa-miR-4753-3p	CLIP-seq
MIRT1971408	hsa-miR-4755-5p	CLIP-seq
MIRT914891	hsa-miR-4758-5p	CLIP-seq
MIRT914892	hsa-miR-4760-3p	CLIP-seq
MIRT914893	hsa-miR-4765	CLIP-seq
MIRT914894	hsa-miR-4766-3p	CLIP-seq
MIRT2206996	hsa-miR-4768-5p	CLIP-seq
MIRT914896	hsa-miR-4769-5p	CLIP-seq
MIRT914897	hsa-miR-4781-3p	CLIP-seq
MIRT914898	hsa-miR-4799-5p	CLIP-seq
MIRT914899	hsa-miR-503	CLIP-seq
MIRT914900	hsa-miR-509-3-5p	CLIP-seq
MIRT914901	hsa-miR-509-5p	CLIP-seq
MIRT914902	hsa-miR-515-5p	CLIP-seq
MIRT914904	hsa-miR-532-5p	CLIP-seq
MIRT1971409	hsa-miR-544	CLIP-seq
MIRT914905	hsa-miR-548ag	CLIP-seq
MIRT914906	hsa-miR-548ai	CLIP-seq
MIRT914907	hsa-miR-548p	CLIP-seq
MIRT914908	hsa-miR-579	CLIP-seq
MIRT2206997	hsa-miR-614	CLIP-seq
MIRT2206998	hsa-miR-623	CLIP-seq
MIRT2206999	hsa-miR-626	CLIP-seq
MIRT1971410	hsa-miR-628-3p	CLIP-seq
MIRT914912	hsa-miR-659	CLIP-seq
MIRT914914	hsa-miR-664	CLIP-seq
MIRT914915	hsa-miR-766	CLIP-seq
MIRT914916	hsa-miR-769-5p	CLIP-seq
MIRT914917	hsa-miR-891b	CLIP-seq
MIRT914918	hsa-miR-9	CLIP-seq
MIRT2207000	hsa-miR-942	CLIP-seq
MIRT914919	hsa-miR-944	CLIP-seq
MIRT1547675	hsa-miR-1269	CLIP-seq
MIRT1547676	hsa-miR-1269b	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT2386562	hsa-miR-197	CLIP-seq
MIRT2206979	hsa-miR-204	CLIP-seq
MIRT2206980	hsa-miR-211	CLIP-seq
MIRT1971395	hsa-miR-3130-3p	CLIP-seq
MIRT2386563	hsa-miR-3647-3p	CLIP-seq
MIRT2386564	hsa-miR-3690	CLIP-seq
MIRT2206984	hsa-miR-371-5p	CLIP-seq
MIRT2206985	hsa-miR-371b-5p	CLIP-seq
MIRT1547677	hsa-miR-378	CLIP-seq
MIRT1547678	hsa-miR-378b	CLIP-seq
MIRT1547679	hsa-miR-378c	CLIP-seq
MIRT1547680	hsa-miR-378d	CLIP-seq
MIRT1547681	hsa-miR-378e	CLIP-seq
MIRT1547682	hsa-miR-378f	CLIP-seq
MIRT1547683	hsa-miR-378h	CLIP-seq
MIRT1547684	hsa-miR-378i	CLIP-seq
MIRT2206986	hsa-miR-3938	CLIP-seq
MIRT1547685	hsa-miR-422a	CLIP-seq
MIRT1547686	hsa-miR-4515	CLIP-seq
MIRT914884	hsa-miR-4670-3p	CLIP-seq
MIRT1547687	hsa-miR-4740-5p	CLIP-seq
MIRT1971408	hsa-miR-4755-5p	CLIP-seq
MIRT2206996	hsa-miR-4768-5p	CLIP-seq
MIRT2206997	hsa-miR-614	CLIP-seq
MIRT2386565	hsa-miR-619	CLIP-seq
MIRT2206998	hsa-miR-623	CLIP-seq
MIRT2207000	hsa-miR-942	CLIP-seq
MIRT914826	hsa-miR-1225-3p	CLIP-seq
MIRT914827	hsa-miR-1234	CLIP-seq
MIRT1547675	hsa-miR-1269	CLIP-seq
MIRT1547676	hsa-miR-1269b	CLIP-seq
MIRT914828	hsa-miR-1285	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT914830	hsa-miR-1292	CLIP-seq
MIRT914833	hsa-miR-141	CLIP-seq
MIRT2510192	hsa-miR-1470	CLIP-seq
MIRT2386562	hsa-miR-197	CLIP-seq
MIRT914836	hsa-miR-200a	CLIP-seq
MIRT914837	hsa-miR-2115	CLIP-seq
MIRT2510193	hsa-miR-2116	CLIP-seq
MIRT2206981	hsa-miR-2355-3p	CLIP-seq
MIRT914838	hsa-miR-299-3p	CLIP-seq
MIRT914842	hsa-miR-3145-3p	CLIP-seq
MIRT2510194	hsa-miR-3148	CLIP-seq
MIRT2206983	hsa-miR-3174	CLIP-seq
MIRT914844	hsa-miR-3180	CLIP-seq
MIRT914845	hsa-miR-3180-3p	CLIP-seq
MIRT914846	hsa-miR-3187-5p	CLIP-seq
MIRT914847	hsa-miR-3192	CLIP-seq
MIRT914848	hsa-miR-3196	CLIP-seq
MIRT914849	hsa-miR-3199	CLIP-seq
MIRT914850	hsa-miR-323-3p	CLIP-seq
MIRT2510195	hsa-miR-3613-3p	CLIP-seq
MIRT2386563	hsa-miR-3647-3p	CLIP-seq
MIRT2386564	hsa-miR-3690	CLIP-seq
MIRT1547677	hsa-miR-378	CLIP-seq
MIRT1547678	hsa-miR-378b	CLIP-seq
MIRT1547679	hsa-miR-378c	CLIP-seq
MIRT1547680	hsa-miR-378d	CLIP-seq
MIRT1547681	hsa-miR-378e	CLIP-seq
MIRT1547682	hsa-miR-378f	CLIP-seq
MIRT1547683	hsa-miR-378h	CLIP-seq
MIRT1547684	hsa-miR-378i	CLIP-seq
MIRT914857	hsa-miR-3925-3p	CLIP-seq
MIRT2510196	hsa-miR-3978	CLIP-seq
MIRT1547685	hsa-miR-422a	CLIP-seq
MIRT914858	hsa-miR-4261	CLIP-seq
MIRT914860	hsa-miR-4297	CLIP-seq
MIRT2206990	hsa-miR-4307	CLIP-seq
MIRT914861	hsa-miR-4314	CLIP-seq
MIRT2510197	hsa-miR-432	CLIP-seq
MIRT914862	hsa-miR-4320	CLIP-seq
MIRT914863	hsa-miR-4418	CLIP-seq
MIRT914865	hsa-miR-4433	CLIP-seq
MIRT914868	hsa-miR-4447	CLIP-seq
MIRT914869	hsa-miR-4459	CLIP-seq
MIRT914870	hsa-miR-4471	CLIP-seq
MIRT914871	hsa-miR-4472	CLIP-seq
MIRT914873	hsa-miR-4488	CLIP-seq
MIRT2510198	hsa-miR-4503	CLIP-seq
MIRT1547686	hsa-miR-4515	CLIP-seq
MIRT2206993	hsa-miR-4646-3p	CLIP-seq
MIRT914876	hsa-miR-4646-5p	CLIP-seq
MIRT914878	hsa-miR-4648	CLIP-seq
MIRT914879	hsa-miR-4651	CLIP-seq
MIRT914880	hsa-miR-4654	CLIP-seq
MIRT2510199	hsa-miR-4667-3p	CLIP-seq
MIRT2510200	hsa-miR-4677-5p	CLIP-seq
MIRT914885	hsa-miR-4685-5p	CLIP-seq
MIRT914886	hsa-miR-4697-5p	CLIP-seq
MIRT1547687	hsa-miR-4740-5p	CLIP-seq
MIRT914890	hsa-miR-4753-3p	CLIP-seq
MIRT914893	hsa-miR-4765	CLIP-seq
MIRT914895	hsa-miR-4768-3p	CLIP-seq
MIRT914896	hsa-miR-4769-5p	CLIP-seq
MIRT914900	hsa-miR-509-3-5p	CLIP-seq
MIRT914901	hsa-miR-509-5p	CLIP-seq
MIRT914902	hsa-miR-515-5p	CLIP-seq
MIRT914903	hsa-miR-516a-3p	CLIP-seq
MIRT2510201	hsa-miR-520a-5p	CLIP-seq
MIRT2510202	hsa-miR-525-5p	CLIP-seq
MIRT914904	hsa-miR-532-5p	CLIP-seq
MIRT914910	hsa-miR-608	CLIP-seq
MIRT914911	hsa-miR-612	CLIP-seq
MIRT2386565	hsa-miR-619	CLIP-seq
MIRT914912	hsa-miR-659	CLIP-seq
MIRT914913	hsa-miR-661	CLIP-seq
MIRT914915	hsa-miR-766	CLIP-seq
MIRT914916	hsa-miR-769-5p	CLIP-seq
MIRT914918	hsa-miR-9	CLIP-seq
MIRT914826	hsa-miR-1225-3p	CLIP-seq
MIRT914827	hsa-miR-1234	CLIP-seq
MIRT1547675	hsa-miR-1269	CLIP-seq
MIRT1547676	hsa-miR-1269b	CLIP-seq
MIRT914828	hsa-miR-1285	CLIP-seq
MIRT914829	hsa-miR-1288	CLIP-seq
MIRT914830	hsa-miR-1292	CLIP-seq
MIRT1971390	hsa-miR-133a	CLIP-seq
MIRT1971391	hsa-miR-133b	CLIP-seq
MIRT1971392	hsa-miR-140-3p	CLIP-seq
MIRT914833	hsa-miR-141	CLIP-seq
MIRT2510192	hsa-miR-1470	CLIP-seq
MIRT2386562	hsa-miR-197	CLIP-seq
MIRT914836	hsa-miR-200a	CLIP-seq
MIRT2510193	hsa-miR-2116	CLIP-seq
MIRT2206981	hsa-miR-2355-3p	CLIP-seq
MIRT914838	hsa-miR-299-3p	CLIP-seq
MIRT914842	hsa-miR-3145-3p	CLIP-seq
MIRT2510194	hsa-miR-3148	CLIP-seq
MIRT2206983	hsa-miR-3174	CLIP-seq
MIRT914844	hsa-miR-3180	CLIP-seq
MIRT914845	hsa-miR-3180-3p	CLIP-seq
MIRT914846	hsa-miR-3187-5p	CLIP-seq
MIRT914847	hsa-miR-3192	CLIP-seq
MIRT914848	hsa-miR-3196	CLIP-seq
MIRT914849	hsa-miR-3199	CLIP-seq
MIRT914850	hsa-miR-323-3p	CLIP-seq
MIRT2510195	hsa-miR-3613-3p	CLIP-seq
MIRT2386563	hsa-miR-3647-3p	CLIP-seq
MIRT2386564	hsa-miR-3690	CLIP-seq
MIRT1547677	hsa-miR-378	CLIP-seq
MIRT1547678	hsa-miR-378b	CLIP-seq
MIRT1547679	hsa-miR-378c	CLIP-seq
MIRT1547680	hsa-miR-378d	CLIP-seq
MIRT1547681	hsa-miR-378e	CLIP-seq
MIRT1547682	hsa-miR-378f	CLIP-seq
MIRT1547683	hsa-miR-378h	CLIP-seq
MIRT1547684	hsa-miR-378i	CLIP-seq
MIRT914857	hsa-miR-3925-3p	CLIP-seq
MIRT2510196	hsa-miR-3978	CLIP-seq
MIRT1547685	hsa-miR-422a	CLIP-seq
MIRT914858	hsa-miR-4261	CLIP-seq
MIRT914860	hsa-miR-4297	CLIP-seq
MIRT2206990	hsa-miR-4307	CLIP-seq
MIRT914861	hsa-miR-4314	CLIP-seq
MIRT2510197	hsa-miR-432	CLIP-seq
MIRT914862	hsa-miR-4320	CLIP-seq
MIRT914863	hsa-miR-4418	CLIP-seq
MIRT914865	hsa-miR-4433	CLIP-seq
MIRT914868	hsa-miR-4447	CLIP-seq
MIRT914869	hsa-miR-4459	CLIP-seq
MIRT914870	hsa-miR-4471	CLIP-seq
MIRT914871	hsa-miR-4472	CLIP-seq
MIRT914873	hsa-miR-4488	CLIP-seq
MIRT2510198	hsa-miR-4503	CLIP-seq
MIRT1547686	hsa-miR-4515	CLIP-seq
MIRT2206993	hsa-miR-4646-3p	CLIP-seq
MIRT914876	hsa-miR-4646-5p	CLIP-seq
MIRT914878	hsa-miR-4648	CLIP-seq
MIRT914879	hsa-miR-4651	CLIP-seq
MIRT914880	hsa-miR-4654	CLIP-seq
MIRT2510199	hsa-miR-4667-3p	CLIP-seq
MIRT2510200	hsa-miR-4677-5p	CLIP-seq
MIRT914885	hsa-miR-4685-5p	CLIP-seq
MIRT914886	hsa-miR-4697-5p	CLIP-seq
MIRT1971407	hsa-miR-4729	CLIP-seq
MIRT1547687	hsa-miR-4740-5p	CLIP-seq
MIRT914890	hsa-miR-4753-3p	CLIP-seq
MIRT914893	hsa-miR-4765	CLIP-seq
MIRT914895	hsa-miR-4768-3p	CLIP-seq
MIRT914896	hsa-miR-4769-5p	CLIP-seq
MIRT914900	hsa-miR-509-3-5p	CLIP-seq
MIRT914901	hsa-miR-509-5p	CLIP-seq
MIRT914902	hsa-miR-515-5p	CLIP-seq
MIRT2510201	hsa-miR-520a-5p	CLIP-seq
MIRT2510202	hsa-miR-525-5p	CLIP-seq
MIRT914904	hsa-miR-532-5p	CLIP-seq
MIRT914910	hsa-miR-608	CLIP-seq
MIRT914911	hsa-miR-612	CLIP-seq
MIRT2386565	hsa-miR-619	CLIP-seq
MIRT914912	hsa-miR-659	CLIP-seq
MIRT914913	hsa-miR-661	CLIP-seq
MIRT914915	hsa-miR-766	CLIP-seq
MIRT914916	hsa-miR-769-5p	CLIP-seq
MIRT914918	hsa-miR-9	CLIP-seq

Show/Hide all (74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	12477722, 16212417, 17052462, 17098867, 18093941, 19016843, 20936779, 22750944, 23292143, 24509793, 25241761, 25764135, 26496610, 28051089, 33961781, 34591612, 35271311, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7650039, 10460003
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005915	Component	Zonula adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006915	Process	Apoptotic process	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8323564
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	7650039, 7890674
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039, 28051089
GO:0016477	Process	Cell migration	IBA
GO:0016600	Component	Flotillin complex	IEA
GO:0017166	Function	Vinculin binding	IPI	9700171
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031103	Process	Axon regeneration	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	23292143
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043297	Process	Apical junction assembly	IEA
GO:0043297	Process	Apical junction assembly	NAS	9700171
GO:0043627	Process	Response to estrogen	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045295	Function	Gamma-catenin binding	IPI	7650039, 7890674
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	7650039, 12734196
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0048870	Process	Cell motility	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098797	Component	Plasma membrane protein complex	IEA
GO:1900181	Process	Negative regulation of protein localization to nucleus	IEA
GO:1900181	Process	Negative regulation of protein localization to nucleus	ISS
GO:2000146	Process	Negative regulation of cell motility	IEA
GO:2001045	Process	Negative regulation of integrin-mediated signaling pathway	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
116805	2509	ENSG00000044115

P35221

Protein name

Catenin alpha-1 (Alpha E-catenin) (Cadherin-associated protein) (Renal carcinoma antigen NY-REN-13)

Protein function

Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion

PDB

1H6G , 4EHP , 4IGG , 6UPV , 6V2O , 6V2P , 7UTJ , 9BL2 , 9BL3 , 9BL4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01044	Vinculin	19 → 339	Vinculin family	Family
PF01044	Vinculin	333 → 867	Vinculin family	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed in normal tissues. {ECO:0000269|PubMed:21708131}.; TISSUE SPECIFICITY: [Isoform 3]: Abundantly expressed in brain and cerebellum, also expressed in the placenta, liver, lung, colon, heart, pancreas,

Sequence

MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHV
LAASVEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVK
RGNMVRAARALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKAL
KPEVDKLNIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKAN
RDLIYKQLQQAVTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEER
FRPSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKER
SDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYA
QVFREHANKLIEVANLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLA
QENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDR
TAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSS
DPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTED
DQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMC
MIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYL
QRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVAS
TKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEF
KAMDSI

Sequence length

906

Interactions

View interactions

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)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Likely pathogenic; Pathogenic	rs2150336916, rs2150334022, rs2149656983, rs2149786068, rs2150359552, rs1762133912	RCV002274827 RCV002274829 RCV002274830 RCV002274831 RCV002276251 RCV001293821 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis syndrome	Likely pathogenic	rs2150359366	RCV001849682	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTNNA1-associated FEVR	Likely pathogenic; Pathogenic	rs1401839892	RCV002509555	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTNNA1-related disorder	Pathogenic; Likely pathogenic	rs2532171064, rs2533923421	RCV003946638 RCV003896791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Pathogenic	rs2150032416	RCV001374509	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1760445854, rs1760858446, rs1755319649, rs1762138459, rs1764805365, rs1764809610, rs773235871, rs773383379, rs2150288001, rs2150334188, rs2150024332, rs745411817, rs2532348445, rs2532425702, rs1475281622 View all (45 more)	RCV003375217 RCV002395706 RCV005809565 RCV003294379 RCV002419008 View all (56 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary diffuse gastric adenocarcinoma	Pathogenic; Likely pathogenic	rs1762138459, rs1764805365, rs1764809610, rs773235871, rs2150288001, rs2150024332, rs2149651992, rs745411817, rs2149656252, rs2532171023, rs371052704, rs2533710424, rs2532447844, rs1581119680, rs869312766 View all (48 more)	RCV004036634 RCV003449963 RCV004036682 RCV003136022 RCV003138015 View all (58 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Patterned macular dystrophy 2	Likely pathogenic; Pathogenic	rs2533013400, rs1763595481, rs2532329302, rs869320696, rs869320697, rs2532424941, rs1356240181, rs2532329311, rs2532425020, rs2532446810, rs1581105774, rs201498915, rs1401839892	RCV005400538 RCV004571368 RCV004571400 RCV000210752 RCV000210750 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polyposis syndrome, hereditary mixed, 1	Pathogenic; Likely pathogenic	rs1762114658, rs2149656665, rs2150287805	RCV002275358 RCV002275719 RCV002275370	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (42)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTTERFLY-SHAPED PIGMENT DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTTERFLY-SHAPED PIGMENTARY MACULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fibrosis of extraocular muscles	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTNNA1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nonpolyposis colon cancer	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATTERNED MACULAR DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26691986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	28453600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	27613243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18418437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29956778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	7669572		★★★★★ ★☆☆☆☆ Found in Text Mining only
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	Bietti Crystalline Dystrophy	BEFREE	28453600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17760743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29774524		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20393555, 32051609, 36562524, 36674696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Butterfly-shaped pigment dystrophy	Macular dystrophy, patterned	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butterfly-shaped pigmentary macular dystrophy	Macular dystrophy, patterned	BEFREE	26691986, 28453600		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butterfly-shaped pigmentary macular dystrophy	Macular dystrophy, patterned	ORPHANET_DG	26691986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoid Tumor	Carcinoid tumor	Pubtator	29327707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25439071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24931142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28258914	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	34115320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10023666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24317174, 27487124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27487124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29923116, 29971601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28802251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	31292255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35327643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	27613243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	23913621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	7669572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	7669572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29923116, 29971601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	25153418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	23208944, 25439071, 25576241, 30515673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	ORPHANET_DG	23208944, 26049741, 26182300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary diffuse gastric cancer	Gastric Cancer	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23122428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17159988, 19826047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19826047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10733509, 19826047, 20671427, 27129146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17159988, 19826047, 21274003, 24685333, 27129146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23122428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27487124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	26691986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Macular dystrophy, patterned	CTD_human_DG	26691986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Macular dystrophy, patterned	UNIPROT_DG	26691986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Macular dystrophy, patterned	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	29774524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23208944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12800191, 15297182, 19826047, 27487124, 30482882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10023666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21521850		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19826047, 20573398, 25153418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19826047	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11813884, 15297182, 18190825, 18618575, 20371743, 20596253, 21274003, 21610251, 24685333, 25153418, 26182300, 27013234, 27487124, 29774524, 31269666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18618575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28059605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	11813884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28796060		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15297182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	14599963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33839271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26749005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned Dystrophy Of Retinal Pigment Epithelium	CTD_human_DG	26691986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	20596253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28802251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15916880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21610251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	27013234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23208944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26182300, 29025585, 29330337, 30515673, 32051609, 34075207, 35448173, 36484990, 36562524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CTNNA1 (catenin alpha 1)