DSG2 (desmoglein 2)

Gene

• Entrez ID: 1829
• Gene name: Desmoglein 2
• Gene symbol: DSG2
• Synonyms (NCBI Gene): CDHF5, HDGC
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230234	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs113451409	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs121913006	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs121913007	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913008	G>A,C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs121913009	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913011	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913012	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913013	G>A	Uncertain-significance, likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs185821167	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs191564916	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs193922639	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Missense variant, coding sequence variant
rs199681901	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs200484060	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs200997703	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs370509593	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs373542380	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs376424003	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397514038	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397516702	G>A,C,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs397516703	TG>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs397516709	T>C	Likely-pathogenic, pathogenic	Splice donor variant
rs397516712	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs553299589	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs730880347	->G	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs745457570	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs750176752	G>A	Likely-pathogenic	Splice donor variant
rs752432726	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs758282201	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs758537946	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs759944835	->A	Pathogenic	Coding sequence variant, frameshift variant
rs762526848	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs775642244	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs780469370	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781532110	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs786204291	A>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs794728083	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs794728086	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728091	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs794728092	GTATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728093	CTTGAAGGGATG>-	Uncertain-significance, pathogenic	Coding sequence variant, splice acceptor variant
rs794728094	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs794728100	TA>ATTCTATTGTTGTGCTATTGTTAT	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs869025388	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs876657791	AGAG>-,AG	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1021457619	G>A	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs1039633976	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1187924885	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1382430464	G>A	Likely-pathogenic	Splice acceptor variant
rs1555627108	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555671201	GT>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1555671331	TCCTCC>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs1555671335	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555671441	G>A	Likely-pathogenic	Splice acceptor variant
rs1568098570	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1568105371	TGAGT>-	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1598810829	GT>-	Likely-pathogenic	Splice donor variant
rs1598811348	TTATCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001550	hsa-miR-155-5p	pSILAC	18668040
MIRT001550	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT022526	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023688	hsa-miR-1-3p	Proteomics	18668040
MIRT023688	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028541	hsa-miR-30a-5p	Proteomics	18668040
MIRT032265	hsa-let-7b-5p	Proteomics	18668040
MIRT046436	hsa-miR-15b-5p	CLASH	23622248
MIRT616857	hsa-miR-8485	HITS-CLIP	23824327
MIRT616856	hsa-miR-603	HITS-CLIP	23824327
MIRT558316	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT616855	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT616854	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT616853	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT079869	hsa-miR-494-3p	HITS-CLIP	23824327
MIRT616852	hsa-miR-8064	HITS-CLIP	23824327
MIRT079869	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT548541	hsa-miR-5700	PAR-CLIP	21572407
MIRT079858	hsa-miR-944	PAR-CLIP	21572407
MIRT558318	hsa-miR-300	PAR-CLIP	21572407
MIRT558317	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT558316	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT079850	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT548540	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT558315	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT558314	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT558313	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT558312	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT558311	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT198520	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT198527	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT198526	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT290251	hsa-miR-556-3p	PAR-CLIP	21572407
MIRT079870	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT079869	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT548541	hsa-miR-5700	PAR-CLIP	21572407
MIRT548540	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT290251	hsa-miR-556-3p	PAR-CLIP	21572407
MIRT079870	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT737284	hsa-miR-146a-3p	Western blotting, RNA-seq, Immunofluorescence, qRT-PCR	32944178
MIRT616857	hsa-miR-8485	HITS-CLIP	23824327
MIRT616856	hsa-miR-603	HITS-CLIP	23824327
MIRT558316	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT616855	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT616854	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT616853	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT079869	hsa-miR-494-3p	HITS-CLIP	23824327
MIRT616852	hsa-miR-8064	HITS-CLIP	23824327
MIRT079869	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT548541	hsa-miR-5700	PAR-CLIP	21572407
MIRT079858	hsa-miR-944	PAR-CLIP	21572407
MIRT558318	hsa-miR-300	PAR-CLIP	21572407
MIRT558317	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT558316	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT079850	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT548540	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT558315	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT558314	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT558313	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT558312	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT558311	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT198520	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT198527	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT198526	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT290251	hsa-miR-556-3p	PAR-CLIP	21572407
MIRT079870	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT079869	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT548541	hsa-miR-5700	PAR-CLIP	21572407
MIRT548540	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT290251	hsa-miR-556-3p	PAR-CLIP	21572407
MIRT079870	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT945988	hsa-miR-103a	CLIP-seq
MIRT945989	hsa-miR-107	CLIP-seq
MIRT945990	hsa-miR-124	CLIP-seq
MIRT945991	hsa-miR-1245	CLIP-seq
MIRT945992	hsa-miR-1258	CLIP-seq
MIRT945993	hsa-miR-1264	CLIP-seq
MIRT945994	hsa-miR-1271	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT945997	hsa-miR-1304	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT945999	hsa-miR-153	CLIP-seq
MIRT946000	hsa-miR-15a	CLIP-seq
MIRT946001	hsa-miR-15b	CLIP-seq
MIRT946002	hsa-miR-16	CLIP-seq
MIRT946003	hsa-miR-182	CLIP-seq
MIRT946004	hsa-miR-1827	CLIP-seq
MIRT946005	hsa-miR-186	CLIP-seq
MIRT946006	hsa-miR-1911	CLIP-seq
MIRT946007	hsa-miR-195	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946009	hsa-miR-202	CLIP-seq
MIRT946010	hsa-miR-2053	CLIP-seq
MIRT946011	hsa-miR-208a	CLIP-seq
MIRT946012	hsa-miR-208b	CLIP-seq
MIRT946013	hsa-miR-2467-5p	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT946016	hsa-miR-297	CLIP-seq
MIRT946017	hsa-miR-3121-5p	CLIP-seq
MIRT946018	hsa-miR-3133	CLIP-seq
MIRT946019	hsa-miR-3144-3p	CLIP-seq
MIRT946020	hsa-miR-3145-3p	CLIP-seq
MIRT946021	hsa-miR-3146	CLIP-seq
MIRT946022	hsa-miR-3156-5p	CLIP-seq
MIRT946023	hsa-miR-3188	CLIP-seq
MIRT946024	hsa-miR-3190	CLIP-seq
MIRT946025	hsa-miR-3607-3p	CLIP-seq
MIRT946026	hsa-miR-361-5p	CLIP-seq
MIRT946027	hsa-miR-3622a-5p	CLIP-seq
MIRT946028	hsa-miR-3657	CLIP-seq
MIRT946029	hsa-miR-3658	CLIP-seq
MIRT946030	hsa-miR-3667-5p	CLIP-seq
MIRT946031	hsa-miR-3672	CLIP-seq
MIRT946032	hsa-miR-3675-3p	CLIP-seq
MIRT946033	hsa-miR-3686	CLIP-seq
MIRT946034	hsa-miR-3689a-5p	CLIP-seq
MIRT946035	hsa-miR-3689b	CLIP-seq
MIRT946036	hsa-miR-3689e	CLIP-seq
MIRT946037	hsa-miR-3689f	CLIP-seq
MIRT946038	hsa-miR-374c	CLIP-seq
MIRT946039	hsa-miR-3918	CLIP-seq
MIRT946040	hsa-miR-3923	CLIP-seq
MIRT946041	hsa-miR-3924	CLIP-seq
MIRT946042	hsa-miR-3975	CLIP-seq
MIRT946043	hsa-miR-409-3p	CLIP-seq
MIRT946044	hsa-miR-410	CLIP-seq
MIRT946045	hsa-miR-424	CLIP-seq
MIRT946046	hsa-miR-425	CLIP-seq
MIRT946047	hsa-miR-4275	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT946049	hsa-miR-4282	CLIP-seq
MIRT946050	hsa-miR-4300	CLIP-seq
MIRT946051	hsa-miR-4423-3p	CLIP-seq
MIRT946052	hsa-miR-4438	CLIP-seq
MIRT946053	hsa-miR-4445	CLIP-seq
MIRT946054	hsa-miR-4453	CLIP-seq
MIRT946055	hsa-miR-4460	CLIP-seq
MIRT946056	hsa-miR-4464	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT946058	hsa-miR-448	CLIP-seq
MIRT946059	hsa-miR-4512	CLIP-seq
MIRT946060	hsa-miR-4519	CLIP-seq
MIRT946061	hsa-miR-4522	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT946063	hsa-miR-4538	CLIP-seq
MIRT946064	hsa-miR-4639-5p	CLIP-seq
MIRT946065	hsa-miR-4649-3p	CLIP-seq
MIRT946066	hsa-miR-4668-3p	CLIP-seq
MIRT946067	hsa-miR-4669	CLIP-seq
MIRT946068	hsa-miR-4670-3p	CLIP-seq
MIRT946069	hsa-miR-4672	CLIP-seq
MIRT946070	hsa-miR-4699-3p	CLIP-seq
MIRT946071	hsa-miR-4711-3p	CLIP-seq
MIRT946072	hsa-miR-4716-5p	CLIP-seq
MIRT946073	hsa-miR-4720-3p	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT946075	hsa-miR-4727-3p	CLIP-seq
MIRT946076	hsa-miR-4731-3p	CLIP-seq
MIRT946077	hsa-miR-4736	CLIP-seq
MIRT946078	hsa-miR-4748	CLIP-seq
MIRT946079	hsa-miR-4761-5p	CLIP-seq
MIRT946080	hsa-miR-4801	CLIP-seq
MIRT946081	hsa-miR-485-5p	CLIP-seq
MIRT946082	hsa-miR-488	CLIP-seq
MIRT946083	hsa-miR-497	CLIP-seq
MIRT946084	hsa-miR-499-5p	CLIP-seq
MIRT946085	hsa-miR-500a	CLIP-seq
MIRT946086	hsa-miR-501-5p	CLIP-seq
MIRT946087	hsa-miR-506	CLIP-seq
MIRT946088	hsa-miR-5095	CLIP-seq
MIRT946089	hsa-miR-539	CLIP-seq
MIRT946090	hsa-miR-548an	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946092	hsa-miR-567	CLIP-seq
MIRT946093	hsa-miR-569	CLIP-seq
MIRT946094	hsa-miR-582-5p	CLIP-seq
MIRT946095	hsa-miR-583	CLIP-seq
MIRT946096	hsa-miR-590-3p	CLIP-seq
MIRT946097	hsa-miR-593	CLIP-seq
MIRT946098	hsa-miR-605	CLIP-seq
MIRT946099	hsa-miR-607	CLIP-seq
MIRT946100	hsa-miR-655	CLIP-seq
MIRT946101	hsa-miR-657	CLIP-seq
MIRT946102	hsa-miR-671-5p	CLIP-seq
MIRT946103	hsa-miR-767-3p	CLIP-seq
MIRT946104	hsa-miR-875-5p	CLIP-seq
MIRT946105	hsa-miR-920	CLIP-seq
MIRT946106	hsa-miR-940	CLIP-seq
MIRT946107	hsa-miR-96	CLIP-seq
MIRT1922701	hsa-miR-1226	CLIP-seq
MIRT1922702	hsa-miR-140-3p	CLIP-seq
MIRT1922703	hsa-miR-197	CLIP-seq
MIRT1922704	hsa-miR-3064-5p	CLIP-seq
MIRT1922705	hsa-miR-3149	CLIP-seq
MIRT1922706	hsa-miR-371-5p	CLIP-seq
MIRT1922707	hsa-miR-371b-5p	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT1922709	hsa-miR-4695-3p	CLIP-seq
MIRT1922710	hsa-miR-4733-3p	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT1922712	hsa-miR-5096	CLIP-seq
MIRT1922713	hsa-miR-640	CLIP-seq
MIRT945988	hsa-miR-103a	CLIP-seq
MIRT1980029	hsa-miR-106a	CLIP-seq
MIRT1980030	hsa-miR-106b	CLIP-seq
MIRT945989	hsa-miR-107	CLIP-seq
MIRT1980031	hsa-miR-122	CLIP-seq
MIRT1922701	hsa-miR-1226	CLIP-seq
MIRT1980032	hsa-miR-1234	CLIP-seq
MIRT945990	hsa-miR-124	CLIP-seq
MIRT1980033	hsa-miR-1243	CLIP-seq
MIRT945992	hsa-miR-1258	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT1980034	hsa-miR-1307	CLIP-seq
MIRT1980035	hsa-miR-130a	CLIP-seq
MIRT1980036	hsa-miR-130b	CLIP-seq
MIRT1980037	hsa-miR-134	CLIP-seq
MIRT1980038	hsa-miR-1343	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT1980039	hsa-miR-155	CLIP-seq
MIRT946000	hsa-miR-15a	CLIP-seq
MIRT946001	hsa-miR-15b	CLIP-seq
MIRT946002	hsa-miR-16	CLIP-seq
MIRT1980040	hsa-miR-17	CLIP-seq
MIRT1980041	hsa-miR-184	CLIP-seq
MIRT946006	hsa-miR-1911	CLIP-seq
MIRT946007	hsa-miR-195	CLIP-seq
MIRT1922703	hsa-miR-197	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946011	hsa-miR-208a	CLIP-seq
MIRT946012	hsa-miR-208b	CLIP-seq
MIRT1980042	hsa-miR-20a	CLIP-seq
MIRT1980043	hsa-miR-20b	CLIP-seq
MIRT1980044	hsa-miR-223	CLIP-seq
MIRT946013	hsa-miR-2467-5p	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT1980045	hsa-miR-301a	CLIP-seq
MIRT1980046	hsa-miR-301b	CLIP-seq
MIRT1980047	hsa-miR-302a	CLIP-seq
MIRT1980048	hsa-miR-302b	CLIP-seq
MIRT1980049	hsa-miR-302c	CLIP-seq
MIRT1980050	hsa-miR-302d	CLIP-seq
MIRT1980051	hsa-miR-302e	CLIP-seq
MIRT1922704	hsa-miR-3064-5p	CLIP-seq
MIRT1980052	hsa-miR-3074-3p	CLIP-seq
MIRT1980053	hsa-miR-3074-5p	CLIP-seq
MIRT1980054	hsa-miR-3118	CLIP-seq
MIRT946017	hsa-miR-3121-5p	CLIP-seq
MIRT1980055	hsa-miR-3136-5p	CLIP-seq
MIRT946020	hsa-miR-3145-3p	CLIP-seq
MIRT1980056	hsa-miR-3153	CLIP-seq
MIRT946023	hsa-miR-3188	CLIP-seq
MIRT946024	hsa-miR-3190	CLIP-seq
MIRT1980057	hsa-miR-331-3p	CLIP-seq
MIRT946026	hsa-miR-361-5p	CLIP-seq
MIRT946027	hsa-miR-3622a-5p	CLIP-seq
MIRT1980058	hsa-miR-3647-3p	CLIP-seq
MIRT1980059	hsa-miR-3654	CLIP-seq
MIRT946028	hsa-miR-3657	CLIP-seq
MIRT946029	hsa-miR-3658	CLIP-seq
MIRT1980060	hsa-miR-3666	CLIP-seq
MIRT946030	hsa-miR-3667-5p	CLIP-seq
MIRT946032	hsa-miR-3675-3p	CLIP-seq
MIRT946034	hsa-miR-3689a-5p	CLIP-seq
MIRT946035	hsa-miR-3689b	CLIP-seq
MIRT946036	hsa-miR-3689e	CLIP-seq
MIRT946037	hsa-miR-3689f	CLIP-seq
MIRT1980061	hsa-miR-372	CLIP-seq
MIRT1980062	hsa-miR-373	CLIP-seq
MIRT946038	hsa-miR-374c	CLIP-seq
MIRT946041	hsa-miR-3924	CLIP-seq
MIRT1980063	hsa-miR-3940-5p	CLIP-seq
MIRT946042	hsa-miR-3975	CLIP-seq
MIRT1980064	hsa-miR-3978	CLIP-seq
MIRT946044	hsa-miR-410	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT946045	hsa-miR-424	CLIP-seq
MIRT946046	hsa-miR-425	CLIP-seq
MIRT1980065	hsa-miR-4251	CLIP-seq
MIRT1980066	hsa-miR-4261	CLIP-seq
MIRT1980067	hsa-miR-4265	CLIP-seq
MIRT1980068	hsa-miR-4276	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT1980069	hsa-miR-4284	CLIP-seq
MIRT1980070	hsa-miR-4295	CLIP-seq
MIRT1980071	hsa-miR-4296	CLIP-seq
MIRT946050	hsa-miR-4300	CLIP-seq
MIRT1980072	hsa-miR-4322	CLIP-seq
MIRT1980073	hsa-miR-4328	CLIP-seq
MIRT946051	hsa-miR-4423-3p	CLIP-seq
MIRT1980074	hsa-miR-4432	CLIP-seq
MIRT1980075	hsa-miR-4435	CLIP-seq
MIRT946052	hsa-miR-4438	CLIP-seq
MIRT1980076	hsa-miR-4439	CLIP-seq
MIRT946054	hsa-miR-4453	CLIP-seq
MIRT946055	hsa-miR-4460	CLIP-seq
MIRT1980077	hsa-miR-4463	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT1980078	hsa-miR-4466	CLIP-seq
MIRT946058	hsa-miR-448	CLIP-seq
MIRT1980079	hsa-miR-4494	CLIP-seq
MIRT1980080	hsa-miR-4502	CLIP-seq
MIRT1980081	hsa-miR-4507	CLIP-seq
MIRT1980082	hsa-miR-4513	CLIP-seq
MIRT946060	hsa-miR-4519	CLIP-seq
MIRT946061	hsa-miR-4522	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT946063	hsa-miR-4538	CLIP-seq
MIRT1980083	hsa-miR-454	CLIP-seq
MIRT1980084	hsa-miR-4638-5p	CLIP-seq
MIRT946064	hsa-miR-4639-5p	CLIP-seq
MIRT1980085	hsa-miR-4648	CLIP-seq
MIRT946065	hsa-miR-4649-3p	CLIP-seq
MIRT1980086	hsa-miR-4654	CLIP-seq
MIRT1980087	hsa-miR-4662a-5p	CLIP-seq
MIRT1980088	hsa-miR-4668-5p	CLIP-seq
MIRT946067	hsa-miR-4669	CLIP-seq
MIRT946069	hsa-miR-4672	CLIP-seq
MIRT946070	hsa-miR-4699-3p	CLIP-seq
MIRT946072	hsa-miR-4716-5p	CLIP-seq
MIRT946073	hsa-miR-4720-3p	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT946075	hsa-miR-4727-3p	CLIP-seq
MIRT946076	hsa-miR-4731-3p	CLIP-seq
MIRT1980089	hsa-miR-4731-5p	CLIP-seq
MIRT1922710	hsa-miR-4733-3p	CLIP-seq
MIRT946079	hsa-miR-4761-5p	CLIP-seq
MIRT1980090	hsa-miR-4769-5p	CLIP-seq
MIRT1980091	hsa-miR-4772-3p	CLIP-seq
MIRT946080	hsa-miR-4801	CLIP-seq
MIRT1980092	hsa-miR-4804-5p	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT946081	hsa-miR-485-5p	CLIP-seq
MIRT1980093	hsa-miR-494	CLIP-seq
MIRT946083	hsa-miR-497	CLIP-seq
MIRT946084	hsa-miR-499-5p	CLIP-seq
MIRT946085	hsa-miR-500a	CLIP-seq
MIRT946086	hsa-miR-501-5p	CLIP-seq
MIRT946087	hsa-miR-506	CLIP-seq
MIRT946088	hsa-miR-5095	CLIP-seq
MIRT1922712	hsa-miR-5096	CLIP-seq
MIRT1980094	hsa-miR-512-3p	CLIP-seq
MIRT1980095	hsa-miR-519d	CLIP-seq
MIRT1980096	hsa-miR-520a-3p	CLIP-seq
MIRT1980097	hsa-miR-520b	CLIP-seq
MIRT1980098	hsa-miR-520c-3p	CLIP-seq
MIRT1980099	hsa-miR-520d-3p	CLIP-seq
MIRT1980100	hsa-miR-520e	CLIP-seq
MIRT1980101	hsa-miR-520g	CLIP-seq
MIRT1980102	hsa-miR-520h	CLIP-seq
MIRT946089	hsa-miR-539	CLIP-seq
MIRT946090	hsa-miR-548an	CLIP-seq
MIRT1980103	hsa-miR-548c-3p	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946094	hsa-miR-582-5p	CLIP-seq
MIRT946098	hsa-miR-605	CLIP-seq
MIRT1980104	hsa-miR-654-3p	CLIP-seq
MIRT946100	hsa-miR-655	CLIP-seq
MIRT946102	hsa-miR-671-5p	CLIP-seq
MIRT1980105	hsa-miR-675	CLIP-seq
MIRT946103	hsa-miR-767-3p	CLIP-seq
MIRT946105	hsa-miR-920	CLIP-seq
MIRT1980106	hsa-miR-93	CLIP-seq
MIRT945988	hsa-miR-103a	CLIP-seq
MIRT1980029	hsa-miR-106a	CLIP-seq
MIRT1980030	hsa-miR-106b	CLIP-seq
MIRT945989	hsa-miR-107	CLIP-seq
MIRT1980031	hsa-miR-122	CLIP-seq
MIRT1980032	hsa-miR-1234	CLIP-seq
MIRT945990	hsa-miR-124	CLIP-seq
MIRT2215275	hsa-miR-1245b-5p	CLIP-seq
MIRT945992	hsa-miR-1258	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT2215276	hsa-miR-1284	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT945997	hsa-miR-1304	CLIP-seq
MIRT1980034	hsa-miR-1307	CLIP-seq
MIRT1980035	hsa-miR-130a	CLIP-seq
MIRT1980036	hsa-miR-130b	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT945999	hsa-miR-153	CLIP-seq
MIRT1980039	hsa-miR-155	CLIP-seq
MIRT946000	hsa-miR-15a	CLIP-seq
MIRT946001	hsa-miR-15b	CLIP-seq
MIRT946002	hsa-miR-16	CLIP-seq
MIRT1980040	hsa-miR-17	CLIP-seq
MIRT946006	hsa-miR-1911	CLIP-seq
MIRT946007	hsa-miR-195	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946011	hsa-miR-208a	CLIP-seq
MIRT946012	hsa-miR-208b	CLIP-seq
MIRT1980042	hsa-miR-20a	CLIP-seq
MIRT1980043	hsa-miR-20b	CLIP-seq
MIRT2215277	hsa-miR-2117	CLIP-seq
MIRT946013	hsa-miR-2467-5p	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT946016	hsa-miR-297	CLIP-seq
MIRT1980045	hsa-miR-301a	CLIP-seq
MIRT1980046	hsa-miR-301b	CLIP-seq
MIRT1980047	hsa-miR-302a	CLIP-seq
MIRT1980048	hsa-miR-302b	CLIP-seq
MIRT1980049	hsa-miR-302c	CLIP-seq
MIRT1980050	hsa-miR-302d	CLIP-seq
MIRT1980051	hsa-miR-302e	CLIP-seq
MIRT1980052	hsa-miR-3074-3p	CLIP-seq
MIRT946017	hsa-miR-3121-5p	CLIP-seq
MIRT2215278	hsa-miR-3142	CLIP-seq
MIRT946020	hsa-miR-3145-3p	CLIP-seq
MIRT946023	hsa-miR-3188	CLIP-seq
MIRT1980057	hsa-miR-331-3p	CLIP-seq
MIRT2215279	hsa-miR-3614-5p	CLIP-seq
MIRT946026	hsa-miR-361-5p	CLIP-seq
MIRT946027	hsa-miR-3622a-5p	CLIP-seq
MIRT946028	hsa-miR-3657	CLIP-seq
MIRT946029	hsa-miR-3658	CLIP-seq
MIRT2215280	hsa-miR-3664-5p	CLIP-seq
MIRT1980060	hsa-miR-3666	CLIP-seq
MIRT946030	hsa-miR-3667-5p	CLIP-seq
MIRT946032	hsa-miR-3675-3p	CLIP-seq
MIRT946034	hsa-miR-3689a-5p	CLIP-seq
MIRT946035	hsa-miR-3689b	CLIP-seq
MIRT946036	hsa-miR-3689e	CLIP-seq
MIRT946037	hsa-miR-3689f	CLIP-seq
MIRT2215281	hsa-miR-3690	CLIP-seq
MIRT2215282	hsa-miR-369-3p	CLIP-seq
MIRT1980061	hsa-miR-372	CLIP-seq
MIRT1980062	hsa-miR-373	CLIP-seq
MIRT2215283	hsa-miR-374a	CLIP-seq
MIRT2215284	hsa-miR-374b	CLIP-seq
MIRT946042	hsa-miR-3975	CLIP-seq
MIRT1980064	hsa-miR-3978	CLIP-seq
MIRT946044	hsa-miR-410	CLIP-seq
MIRT946045	hsa-miR-424	CLIP-seq
MIRT946046	hsa-miR-425	CLIP-seq
MIRT1980065	hsa-miR-4251	CLIP-seq
MIRT2215285	hsa-miR-4254	CLIP-seq
MIRT1980066	hsa-miR-4261	CLIP-seq
MIRT2215286	hsa-miR-4272	CLIP-seq
MIRT2215287	hsa-miR-4273	CLIP-seq
MIRT1980068	hsa-miR-4276	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT1980069	hsa-miR-4284	CLIP-seq
MIRT1980070	hsa-miR-4295	CLIP-seq
MIRT946050	hsa-miR-4300	CLIP-seq
MIRT2215288	hsa-miR-4302	CLIP-seq
MIRT2215289	hsa-miR-4330	CLIP-seq
MIRT946051	hsa-miR-4423-3p	CLIP-seq
MIRT2215290	hsa-miR-4423-5p	CLIP-seq
MIRT1980074	hsa-miR-4432	CLIP-seq
MIRT1980075	hsa-miR-4435	CLIP-seq
MIRT946052	hsa-miR-4438	CLIP-seq
MIRT946053	hsa-miR-4445	CLIP-seq
MIRT946054	hsa-miR-4453	CLIP-seq
MIRT1980077	hsa-miR-4463	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT1980078	hsa-miR-4466	CLIP-seq
MIRT946058	hsa-miR-448	CLIP-seq
MIRT1980079	hsa-miR-4494	CLIP-seq
MIRT946060	hsa-miR-4519	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT946063	hsa-miR-4538	CLIP-seq
MIRT1980083	hsa-miR-454	CLIP-seq
MIRT1980084	hsa-miR-4638-5p	CLIP-seq
MIRT946065	hsa-miR-4649-3p	CLIP-seq
MIRT1980087	hsa-miR-4662a-5p	CLIP-seq
MIRT946067	hsa-miR-4669	CLIP-seq
MIRT946069	hsa-miR-4672	CLIP-seq
MIRT2215291	hsa-miR-4677-5p	CLIP-seq
MIRT946070	hsa-miR-4699-3p	CLIP-seq
MIRT2215292	hsa-miR-4714-5p	CLIP-seq
MIRT946072	hsa-miR-4716-5p	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT946075	hsa-miR-4727-3p	CLIP-seq
MIRT946076	hsa-miR-4731-3p	CLIP-seq
MIRT1980089	hsa-miR-4731-5p	CLIP-seq
MIRT1980091	hsa-miR-4772-3p	CLIP-seq
MIRT2215293	hsa-miR-4786-3p	CLIP-seq
MIRT946080	hsa-miR-4801	CLIP-seq
MIRT946081	hsa-miR-485-5p	CLIP-seq
MIRT1980093	hsa-miR-494	CLIP-seq
MIRT946083	hsa-miR-497	CLIP-seq
MIRT946084	hsa-miR-499-5p	CLIP-seq
MIRT946085	hsa-miR-500a	CLIP-seq
MIRT946086	hsa-miR-501-5p	CLIP-seq
MIRT946087	hsa-miR-506	CLIP-seq
MIRT946088	hsa-miR-5095	CLIP-seq
MIRT1980094	hsa-miR-512-3p	CLIP-seq
MIRT2215294	hsa-miR-513c	CLIP-seq
MIRT2215295	hsa-miR-514b-5p	CLIP-seq
MIRT1980095	hsa-miR-519d	CLIP-seq
MIRT1980096	hsa-miR-520a-3p	CLIP-seq
MIRT1980097	hsa-miR-520b	CLIP-seq
MIRT1980098	hsa-miR-520c-3p	CLIP-seq
MIRT1980099	hsa-miR-520d-3p	CLIP-seq
MIRT1980100	hsa-miR-520e	CLIP-seq
MIRT1980101	hsa-miR-520g	CLIP-seq
MIRT1980102	hsa-miR-520h	CLIP-seq
MIRT946089	hsa-miR-539	CLIP-seq
MIRT946090	hsa-miR-548an	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946092	hsa-miR-567	CLIP-seq
MIRT2215296	hsa-miR-576-3p	CLIP-seq
MIRT946098	hsa-miR-605	CLIP-seq
MIRT1980104	hsa-miR-654-3p	CLIP-seq
MIRT946102	hsa-miR-671-5p	CLIP-seq
MIRT1980105	hsa-miR-675	CLIP-seq
MIRT946105	hsa-miR-920	CLIP-seq
MIRT1980106	hsa-miR-93	CLIP-seq
MIRT2448549	hsa-miR-1267	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT2448550	hsa-miR-216a	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT1922705	hsa-miR-3149	CLIP-seq
MIRT2215280	hsa-miR-3664-5p	CLIP-seq
MIRT946038	hsa-miR-374c	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT2448551	hsa-miR-4311	CLIP-seq
MIRT2215290	hsa-miR-4423-5p	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT2448552	hsa-miR-4639-3p	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT2448553	hsa-miR-4735-5p	CLIP-seq
MIRT2448554	hsa-miR-4775	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946096	hsa-miR-590-3p	CLIP-seq
MIRT946100	hsa-miR-655	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT1922705	hsa-miR-3149	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT2448553	hsa-miR-4735-5p	CLIP-seq
MIRT2448554	hsa-miR-4775	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT946096	hsa-miR-590-3p	CLIP-seq
MIRT1980031	hsa-miR-122	CLIP-seq
MIRT1922701	hsa-miR-1226	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT1980035	hsa-miR-130a	CLIP-seq
MIRT1980036	hsa-miR-130b	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT1922703	hsa-miR-197	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT1980045	hsa-miR-301a	CLIP-seq
MIRT1980046	hsa-miR-301b	CLIP-seq
MIRT1922705	hsa-miR-3149	CLIP-seq
MIRT1980060	hsa-miR-3666	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT1980070	hsa-miR-4295	CLIP-seq
MIRT2215290	hsa-miR-4423-5p	CLIP-seq
MIRT946052	hsa-miR-4438	CLIP-seq
MIRT1980077	hsa-miR-4463	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT1980078	hsa-miR-4466	CLIP-seq
MIRT1980079	hsa-miR-4494	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT1980083	hsa-miR-454	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT1922710	hsa-miR-4733-3p	CLIP-seq
MIRT2448553	hsa-miR-4735-5p	CLIP-seq
MIRT2448554	hsa-miR-4775	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT946088	hsa-miR-5095	CLIP-seq
MIRT1922712	hsa-miR-5096	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946096	hsa-miR-590-3p	CLIP-seq
MIRT1980105	hsa-miR-675	CLIP-seq
MIRT1980031	hsa-miR-122	CLIP-seq
MIRT1922701	hsa-miR-1226	CLIP-seq
MIRT945995	hsa-miR-1281	CLIP-seq
MIRT945996	hsa-miR-1297	CLIP-seq
MIRT1980035	hsa-miR-130a	CLIP-seq
MIRT1980036	hsa-miR-130b	CLIP-seq
MIRT945998	hsa-miR-150	CLIP-seq
MIRT1922703	hsa-miR-197	CLIP-seq
MIRT946008	hsa-miR-1976	CLIP-seq
MIRT946014	hsa-miR-26a	CLIP-seq
MIRT946015	hsa-miR-26b	CLIP-seq
MIRT1980045	hsa-miR-301a	CLIP-seq
MIRT1980046	hsa-miR-301b	CLIP-seq
MIRT1922705	hsa-miR-3149	CLIP-seq
MIRT1980060	hsa-miR-3666	CLIP-seq
MIRT1922708	hsa-miR-411	CLIP-seq
MIRT946048	hsa-miR-4279	CLIP-seq
MIRT1980070	hsa-miR-4295	CLIP-seq
MIRT946052	hsa-miR-4438	CLIP-seq
MIRT1980077	hsa-miR-4463	CLIP-seq
MIRT946057	hsa-miR-4465	CLIP-seq
MIRT1980078	hsa-miR-4466	CLIP-seq
MIRT1980079	hsa-miR-4494	CLIP-seq
MIRT946062	hsa-miR-4532	CLIP-seq
MIRT1980083	hsa-miR-454	CLIP-seq
MIRT946074	hsa-miR-4722-3p	CLIP-seq
MIRT1922710	hsa-miR-4733-3p	CLIP-seq
MIRT2448553	hsa-miR-4735-5p	CLIP-seq
MIRT2448554	hsa-miR-4775	CLIP-seq
MIRT1922711	hsa-miR-483-5p	CLIP-seq
MIRT946088	hsa-miR-5095	CLIP-seq
MIRT1922712	hsa-miR-5096	CLIP-seq
MIRT946091	hsa-miR-562	CLIP-seq
MIRT946096	hsa-miR-590-3p	CLIP-seq
MIRT1980105	hsa-miR-675	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0002934	Process	Desmosome organization	IMP	16505173
GO:0003165	Process	Purkinje myocyte development	IMP	16505173
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11790773, 29910125
GO:0005737	Component	Cytoplasm	IDA	27338829
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	17559062
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	TAS	8143788
GO:0007155	Process	Cell adhesion	IDA	17559062
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	17559062
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	27338829
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	29910125
GO:0014704	Component	Intercalated disc	IDA	23381804
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IDA	20859650, 23381804, 29999492
GO:0030057	Component	Desmosome	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	38395410
GO:0045602	Process	Negative regulation of endothelial cell differentiation	IMP	27338829
GO:0045785	Process	Positive regulation of cell adhesion	IMP	38395410
GO:0046872	Function	Metal ion binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	17559062
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060231	Process	Mesenchymal to epithelial transition	IMP	29910125
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072089	Process	Stem cell proliferation	ISS
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	16505173
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	16505173
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	16505173, 23381804
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	16505173, 23381804
GO:0106015	Process	Negative regulation of inflammatory response to wounding	IEA
GO:0150107	Process	Positive regulation of protein localization to cell-cell junction	IEA
GO:0150107	Process	Positive regulation of protein localization to cell-cell junction	IMP	27338829
GO:1902459	Process	Positive regulation of stem cell population maintenance	IEA
GO:1902459	Process	Positive regulation of stem cell population maintenance	ISS
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IMP	27338829

Other IDs

• MIM: 125671
• HGNC: 3049
• e!Ensembl: ENSG00000046604

Protein

• UniProt ID: Q14126
• Protein name: Desmoglein-2 (Cadherin family member 5) (HDGC)
• Protein function: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:38395410). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Required for
• PDB: 2YQG, 5ERD, 5J5J, 6QNT, 6QNU, 6SIT, 7A7D, 7AGF, 7AGG, 8QJX, 8QJY, 8QK3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	164 → 263	Cadherin domain	Domain
  PF00028	Cadherin	278 → 378	Cadherin domain	Domain
  PF00028	Cadherin	396 → 490	Cadherin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in undifferentiated pluripotent stem cells, expression decreases during differentiation (at protein level) (PubMed:29910125). Expressed in hematopoietic stem cells and circulating endothelial progenitor cells, expression decr
• Sequence:

  MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALRE
  GEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDRE
  ETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFTQDVFVGSVEELSAAHTLVMK
  INATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSVTLDREEHSSYTLTVE
  ARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADE
  IGSDNWLANFTFASGNEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAF
  HKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDT
  GLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKT
  ITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGM
  AEKWKIARQESTSVLLQQSEKKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCR
  EAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNE
  GAPPEDKVVPSFLPVDQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEE
  HRSLLSGRATQFTGATGAIMTTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKA
  ASYTEEDENHTAKDCLLVYSQEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVC
  LGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAE
  KVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQS
  LIVTERVYAPASTLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERE
  SFLAPSSGVQPTLAMPNIAVGQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAG
  VPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS

• Sequence length: 1118

Pathways

KEGG:

Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Apoptotic cleavage of cell adhesion proteins
Keratinization
Formation of the cornified envelope

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
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs369489095, rs754133577, rs2510917769, rs121913006, rs121913008, rs1064793983, rs397516712, rs1187924885, rs745457570, rs752522753	RCV004017871 RCV002260457 RCV004017943 RCV000211715 RCV000211714 RCV005355935 RCV000037320 RCV000852472 RCV000853179 RCV004807303	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic right ventricular dysplasia 10	Likely pathogenic; Pathogenic	rs1472037685, rs1257877047, rs2144318119, rs1375012922, rs2144359029, rs2144332473, rs2144322548, rs553299589, rs779360113, rs2144317638, rs773328409, rs2144317658, rs2144332585, rs2073125384, rs1452179158, rs2144317934, rs2144323019, rs2144322985, rs2144346522, rs1252426323, rs2510911656, rs765347389, rs2510917769, rs794728083, rs794728094, rs794728098, rs2510920042, rs1342580910, rs2510912814, rs2510912913, rs2510910881, rs2510910826, rs781532110, rs2510911012, rs546127303, rs2510917341, rs2510910367, rs2510918902, rs2510911160, rs2510920888, rs2510903631, rs2510911170, rs2510903672, rs121913006, rs121913008, rs121913011, rs2510920856, rs2510922661, rs750176752, rs758282201, rs1064793983, rs1555671201, rs1555627108, rs1555671441, rs397516712, rs1567933176, rs1375081885, rs1568105371, rs1039633976, rs759944835, rs1598810829, rs775256998, rs763907170, rs1187924885, rs752522753, rs2073149649, rs2073148989, rs200201181, rs1568098570, rs2073222422	RCV001379680 RCV001377832 RCV001389001 RCV001389641 RCV001389557 RCV001724718 RCV002539833 RCV001785340 RCV001988896 RCV001985851 RCV001864753 RCV001933776 RCV001967260 RCV001953430 RCV001946651 RCV001875576 RCV001959041 RCV001963173 RCV001873956 RCV002275682 RCV003098200 RCV003631269 RCV002601835 RCV003988832 RCV001852263 RCV001852264 RCV002857013 RCV002847961 RCV003010293 RCV003010011 RCV003020367 RCV003039512 RCV000813935 RCV003314484 RCV003315121 RCV003322734 RCV003486406 RCV003517518 RCV003516826 RCV003516989 RCV003631841 RCV003631821 RCV003632839 RCV000018303 RCV000018305 RCV000018308 RCV004545949 RCV004555981 RCV000473344 RCV001865472 RCV006436790 RCV003631130 RCV001858038 RCV000533601 RCV005089354 RCV000706687 RCV000702405 RCV000709722 RCV000709721 RCV000792820 RCV000809136 RCV001257462 RCV001858460 RCV001858508 RCV001069981 RCV001198540 RCV001222719 RCV001214107 RCV001250161 RCV001262402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic; Pathogenic	rs121913006	RCV002254518	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs794728094, rs121913008, rs1064793983, rs775256998, rs752522753	RCV001808460 RCV001798008 RCV001170379 RCV001175770 RCV005401720	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2510911656, rs765347389, rs794728100, rs794728094, rs2510911089, rs2510920014, rs546127303, rs121913006, rs121913008, rs1555627108, rs1039633976, rs775256998, rs763907170, rs752522753	RCV002368834 RCV002437210 RCV004020187 RCV002463439 RCV003181654 RCV003301472 RCV004992588 RCV005403721 RCV002381255 RCV005328293 RCV002406655 RCV005562488 RCV005328414 RCV002379620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1BB	Likely pathogenic; Pathogenic	rs1257877047, rs773328409, rs1252426323, rs781532110, rs121913008, rs1567933176, rs1568105371, rs1039633976, rs1598810829, rs775256998, rs1187924885	RCV002499778 RCV002482496 RCV002275682 RCV002503975 RCV002482885 RCV002493249 RCV002499279 RCV002507240 RCV002507404 RCV005021261 RCV002501181	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2073222422	RCV001255328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic	rs2510922441	RCV003318447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sudden cardiac death	Likely pathogenic	rs565904909	RCV001290974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1382430464	RCV005900941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrhythmia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1BB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DSG2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systolic heart failure	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	25723573, 28199971, 33213512	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26469831		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	30790397	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	16505173, 16773573, 16917092, 17033975, 17105751, 17413274, 19635863, 20031616, 20124997, 20708101, 22000064, 22214898, 23071725, 23381804, 23871674, 24086444, 25087486, 25399050, 26296472, 26676851, 28818065, 29062102, 29566126, 30177324, 30239670, 30391969, 30454721, 30524916, 30790397, 30885746, 31051180, 31347734, 31653443, 31845994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	16505173, 16773573, 17105751, 18382419, 19095136, 19151369, 19279339, 19863551, 20031616, 20031617, 20152563, 20400443, 20857253, 21606390, 21606396, 21636032, 21859740, 23071725, 23381804, 23671136, 23810894, 25525159, 25820315, 28283360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	16698823, 17033975, 18596851, 18632414, 19358943, 20124997, 20152563, 20708101, 21636032, 22214898, 23071725, 23128240, 24086444, 25445213, 25837155, 28818065, 29062102, 29178656, 30129429, 30391969, 30790397, 30885746, 30985088, 31275992, 33047533, 33640690, 33831308, 33917638, 33949662, 35342132, 35819174, 36768439, 37418234, 40106965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35628349	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	16505173, 20400443, 20864495, 21397041, 23381804, 23911551, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	16773573, 19863551, 20031617, 21062920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	27532257, 29567486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20208059		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	30291846		★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	12850306		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	36303204	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	26220970		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26918609	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16025435		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30229819	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17607380	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28438789, 8982400	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	24934917, 30291846		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	16773573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	26085008, 28339476, 29062102, 30177324, 30885746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	33949662	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	29775428		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30129429, 31024045	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	18678517, 28764973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	18678517		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	20864495, 21397041, 21606396, 23381804, 23889974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1BB	Cardiomyopathy	GENOMICS_ENGLAND_DG	27532257, 29567486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1BB	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1BB	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28764973		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28764973		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32850288	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31205031		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24166502		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33407183	Inhibit	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30454721, 30790397		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17607380		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28740231, 30115995		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	31653443		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29305923		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24568510	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	18678517		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioblastoma	Glioblastoma	Pubtator	37243172	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30115995		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28438789	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26676851		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29062102	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30454721, 30790397		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30790397, 33949662	Associate	★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	33917638	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	1601426, 16025435		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32850288	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30716529		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30716529		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12850306, 14555912, 31205031		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30790397	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30229819		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33407183	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24896103, 26033689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16890424		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26918609, 28438789, 29753032		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24166502		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17495963, 18975006		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24558503, 27340778		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24558503, 27340778	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	38326520	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34245117	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30553167		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16890424, 24166502, 24896103, 27340778, 28323918, 28438789, 30229819, 30992466		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	LHGDN	18975006		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27629878		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19091121	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34993253	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37391503	Stimulate	★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	30524916		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	35058080	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	31178865		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35819174	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24896103, 26033689		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24896103	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	25361553	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17607380		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	32992715	Associate	★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	BEFREE	22189787		★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	15920547	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28438789		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24568510		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33420101, 33892811, 39173463	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16890424		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23874518		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	30129429	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	30177324		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	32182948	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12850306		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19913990	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31930774	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	26918609	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	26296472, 30790397		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	30790397	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	30790397	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	19358943	Associate	★☆☆☆☆ Found in Text Mining only