PKP2 (plakophilin 2)

Gene

• Entrez ID: 5318
• Gene name: Plakophilin 2
• Gene symbol: PKP2
• Synonyms (NCBI Gene): ARVD9
• Chromosome: 12
• Chromosome location: 12p11.21
• Summary: This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs78897684	C>A,G	Pathogenic	Splice acceptor variant
rs111517471	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs121434420	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434421	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs139139859	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs139734328	G>A,T	Uncertain-significance, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs139851304	T>C	Uncertain-significance, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs143397927	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs143900944	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs144601090	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144620127	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs146102241	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs149930872	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, intron variant, coding sequence variant
rs150821281	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151212477	G>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, intron variant, coding sequence variant
rs193922672	C>T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs193922673	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs193922674	C>G	Pathogenic	Splice acceptor variant
rs199571473	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs199601548	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200069860	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200586695	C>G,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201405287	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs201944276	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368656084	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372827156	G>A	Pathogenic	Stop gained, coding sequence variant
rs373399921	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs376231586	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs397516986	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516987	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs397516988	TCAC>-	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs397516989	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397516990	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397516992	CCCCATTTA>AACTAAAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516993	GTTT>-	Likely-pathogenic	Stop gained, coding sequence variant
rs397516994	C>G	Likely-pathogenic, pathogenic	Splice donor variant
rs397516996	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397516997	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516999	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397517001	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs397517003	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs397517005	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517008	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517009	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397517010	->A	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397517012	G>A	Pathogenic	Stop gained, coding sequence variant
rs397517013	->CTTC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397517015	C>A	Pathogenic	Stop gained, coding sequence variant
rs397517017	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs397517021	GGTGTG>C,G	Pathogenic	Frameshift variant, coding sequence variant
rs397517022	CAGGA>ACTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517025	TGTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397517030	CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC>GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs551045165	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727504430	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs727504432	T>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs727504509	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs727504786	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880180	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs749926313	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs751288871	G>A	Pathogenic	Coding sequence variant, stop gained
rs754912778	G>A	Pathogenic	Stop gained, coding sequence variant
rs757922359	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs760576804	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs762288961	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762753884	G>A	Pathogenic	Coding sequence variant, stop gained
rs763303290	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs763639737	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs764817683	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs766209297	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs767987619	G>T	Pathogenic	Coding sequence variant, stop gained
rs768286281	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs769220833	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs772220644	CG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs774663443	C>T	Pathogenic	Stop gained, coding sequence variant
rs775995156	GGGAT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs779082302	C>A,T	Pathogenic	Splice acceptor variant
rs786204388	CTCA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs786204389	T>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs786204392	C>G,T	Pathogenic	Splice donor variant
rs786204395	GGTGTT>TTTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205353	->C,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205476	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794729098	A>G	Pathogenic	Missense variant, coding sequence variant
rs794729099	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794729100	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794729104	A>T	Pathogenic	Stop gained, coding sequence variant
rs794729106	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs794729108	A>C	Pathogenic	Stop gained, coding sequence variant
rs794729109	T>A	Pathogenic	Stop gained, coding sequence variant
rs794729111	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794729116	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794729117	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729118	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729119	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729120	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794729121	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729122	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729123	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729124	TGAAAGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729125	TCATTAGATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729126	G>-	Pathogenic	Stop gained, coding sequence variant
rs794729127	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729128	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729129	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729130	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794729132	G>A	Pathogenic	Stop gained, coding sequence variant
rs794729133	T>C	Pathogenic	Splice acceptor variant
rs794729135	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs794729137	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs869025496	C>A,G,T	Likely-pathogenic	Splice donor variant
rs876657659	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878854710	GGGTGT>C	Pathogenic	Coding sequence variant, frameshift variant
rs878898365	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs886041322	G>A	Pathogenic	Coding sequence variant, stop gained
rs958681660	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057520597	T>A,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057520650	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057520726	C>G	Likely-pathogenic	Splice donor variant
rs1060501182	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501184	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1060501186	G>A	Pathogenic	Missense variant, coding sequence variant
rs1060501188	T>G	Likely-pathogenic	Splice acceptor variant
rs1064792927	->CTCTCCTCCCGCTGGAATCCACG	Pathogenic	Frameshift variant, coding sequence variant
rs1064792929	GGA>TTTTGGCGAT	Pathogenic	Frameshift variant, coding sequence variant
rs1064793231	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793905	T>G	Pathogenic	Intron variant
rs1064794350	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796069	TCCAGTGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796241	CAG>AA	Pathogenic	Frameshift variant, coding sequence variant
rs1064796268	TTTAGCATGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1318070848	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1332615728	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1353074803	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1373300155	ACTTCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1425855043	C>A	Pathogenic	Stop gained, coding sequence variant
rs1453983744	T>A,C	Pathogenic	Splice acceptor variant
rs1486464304	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555141020	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs1555142963	TCCTGCTTCGACTGCCAAAACAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555142971	->AATACTTTTGTTGTTGTCA	Likely-pathogenic	Stop gained, coding sequence variant
rs1555142984	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555142994	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555143134	->CATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555143143	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555144459	->A	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555144478	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555145509	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555145520	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555145521	GCTGCAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555147210	C>T	Likely-pathogenic	Splice acceptor variant
rs1555148011	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555148032	->CCTGGCCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555148035	GCCT>AGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555148048	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555148090	->CGACAGTGAGCCCTGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555148259	CCAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555148271	->T	Pathogenic	Stop gained, coding sequence variant
rs1555149952	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555149975	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565574709	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565586921	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1565586958	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565590176	T>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1565590309	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1565599473	G>A	Pathogenic	Stop gained, coding sequence variant
rs1591828796	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592729525	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1592738654	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1592746270	A>G	Likely-pathogenic	Splice donor variant
rs1592758957	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025489	hsa-miR-34a-5p	Proteomics	21566225
MIRT046783	hsa-miR-222-3p	CLASH	23622248
MIRT044957	hsa-miR-186-5p	CLASH	23622248
MIRT037616	hsa-miR-744-5p	CLASH	23622248
MIRT1238069	hsa-miR-1255a	CLIP-seq
MIRT1238070	hsa-miR-1255b	CLIP-seq
MIRT1238071	hsa-miR-1287	CLIP-seq
MIRT1238072	hsa-miR-1290	CLIP-seq
MIRT1238073	hsa-miR-129-5p	CLIP-seq
MIRT1238074	hsa-miR-1299	CLIP-seq
MIRT1238075	hsa-miR-1301	CLIP-seq
MIRT1238076	hsa-miR-1305	CLIP-seq
MIRT1238077	hsa-miR-141	CLIP-seq
MIRT1238078	hsa-miR-1587	CLIP-seq
MIRT1238079	hsa-miR-181a	CLIP-seq
MIRT1238080	hsa-miR-181b	CLIP-seq
MIRT1238081	hsa-miR-181c	CLIP-seq
MIRT1238082	hsa-miR-181d	CLIP-seq
MIRT1238083	hsa-miR-200a	CLIP-seq
MIRT1238084	hsa-miR-2110	CLIP-seq
MIRT1238085	hsa-miR-219-1-3p	CLIP-seq
MIRT1238086	hsa-miR-2964a-5p	CLIP-seq
MIRT1238087	hsa-miR-298	CLIP-seq
MIRT1238088	hsa-miR-3064-5p	CLIP-seq
MIRT1238089	hsa-miR-3121-3p	CLIP-seq
MIRT1238090	hsa-miR-3121-5p	CLIP-seq
MIRT1238091	hsa-miR-3123	CLIP-seq
MIRT1238092	hsa-miR-3127-5p	CLIP-seq
MIRT1238093	hsa-miR-3144-5p	CLIP-seq
MIRT1238094	hsa-miR-3145-3p	CLIP-seq
MIRT1238095	hsa-miR-3150a-3p	CLIP-seq
MIRT1238096	hsa-miR-3158-5p	CLIP-seq
MIRT1238097	hsa-miR-3689a-5p	CLIP-seq
MIRT1238098	hsa-miR-3689b	CLIP-seq
MIRT1238099	hsa-miR-3689e	CLIP-seq
MIRT1238100	hsa-miR-3689f	CLIP-seq
MIRT1238101	hsa-miR-378g	CLIP-seq
MIRT1238102	hsa-miR-3925-5p	CLIP-seq
MIRT1238103	hsa-miR-3976	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT1238105	hsa-miR-4260	CLIP-seq
MIRT1238106	hsa-miR-4262	CLIP-seq
MIRT1238107	hsa-miR-4282	CLIP-seq
MIRT1238108	hsa-miR-4320	CLIP-seq
MIRT1238109	hsa-miR-4328	CLIP-seq
MIRT1238110	hsa-miR-4418	CLIP-seq
MIRT1238111	hsa-miR-4450	CLIP-seq
MIRT1238112	hsa-miR-4492	CLIP-seq
MIRT1238113	hsa-miR-4498	CLIP-seq
MIRT1238114	hsa-miR-4505	CLIP-seq
MIRT1238115	hsa-miR-450b-5p	CLIP-seq
MIRT1238116	hsa-miR-4643	CLIP-seq
MIRT1238117	hsa-miR-4652-3p	CLIP-seq
MIRT1238118	hsa-miR-4656	CLIP-seq
MIRT1238119	hsa-miR-466	CLIP-seq
MIRT1238120	hsa-miR-4675	CLIP-seq
MIRT1238121	hsa-miR-4677-3p	CLIP-seq
MIRT1238122	hsa-miR-4679	CLIP-seq
MIRT1238123	hsa-miR-4694-3p	CLIP-seq
MIRT1238124	hsa-miR-4698	CLIP-seq
MIRT1238125	hsa-miR-4708-3p	CLIP-seq
MIRT1238126	hsa-miR-4741	CLIP-seq
MIRT1238127	hsa-miR-4778-5p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT1238129	hsa-miR-4789-3p	CLIP-seq
MIRT1238130	hsa-miR-5047	CLIP-seq
MIRT1238131	hsa-miR-505	CLIP-seq
MIRT1238132	hsa-miR-507	CLIP-seq
MIRT1238133	hsa-miR-509-3-5p	CLIP-seq
MIRT1238134	hsa-miR-509-5p	CLIP-seq
MIRT1238135	hsa-miR-516b	CLIP-seq
MIRT1238136	hsa-miR-522	CLIP-seq
MIRT1238137	hsa-miR-541	CLIP-seq
MIRT1238138	hsa-miR-557	CLIP-seq
MIRT1238139	hsa-miR-578	CLIP-seq
MIRT1238140	hsa-miR-582-5p	CLIP-seq
MIRT1238141	hsa-miR-639	CLIP-seq
MIRT1238142	hsa-miR-654-5p	CLIP-seq
MIRT1238143	hsa-miR-760	CLIP-seq
MIRT1238144	hsa-miR-762	CLIP-seq
MIRT2070078	hsa-miR-1193	CLIP-seq
MIRT2070079	hsa-miR-1251	CLIP-seq
MIRT1238074	hsa-miR-1299	CLIP-seq
MIRT2070080	hsa-miR-135a	CLIP-seq
MIRT2070081	hsa-miR-135b	CLIP-seq
MIRT2070082	hsa-miR-3074-3p	CLIP-seq
MIRT2070083	hsa-miR-3163	CLIP-seq
MIRT2070084	hsa-miR-3182	CLIP-seq
MIRT2070085	hsa-miR-3185	CLIP-seq
MIRT2070086	hsa-miR-412	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT1238110	hsa-miR-4418	CLIP-seq
MIRT2070087	hsa-miR-4424	CLIP-seq
MIRT2070088	hsa-miR-4432	CLIP-seq
MIRT2070089	hsa-miR-4635	CLIP-seq
MIRT2070090	hsa-miR-4684-5p	CLIP-seq
MIRT2070091	hsa-miR-4709-3p	CLIP-seq
MIRT2070092	hsa-miR-4778-3p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT1238133	hsa-miR-509-3-5p	CLIP-seq
MIRT1238134	hsa-miR-509-5p	CLIP-seq
MIRT2070093	hsa-miR-514	CLIP-seq
MIRT2070094	hsa-miR-514b-3p	CLIP-seq
MIRT1238135	hsa-miR-516b	CLIP-seq
MIRT2070095	hsa-miR-518d-5p	CLIP-seq
MIRT2070096	hsa-miR-519b-5p	CLIP-seq
MIRT2070097	hsa-miR-519c-5p	CLIP-seq
MIRT2070098	hsa-miR-520c-5p	CLIP-seq
MIRT2070099	hsa-miR-526a	CLIP-seq
MIRT1238139	hsa-miR-578	CLIP-seq
MIRT2070100	hsa-miR-600	CLIP-seq
MIRT2070101	hsa-miR-617	CLIP-seq
MIRT2070102	hsa-miR-642b	CLIP-seq
MIRT2070103	hsa-miR-7	CLIP-seq
MIRT2070104	hsa-miR-875-3p	CLIP-seq
MIRT2297295	hsa-miR-1245b-5p	CLIP-seq
MIRT1238072	hsa-miR-1290	CLIP-seq
MIRT1238073	hsa-miR-129-5p	CLIP-seq
MIRT1238075	hsa-miR-1301	CLIP-seq
MIRT2297296	hsa-miR-2682	CLIP-seq
MIRT2070082	hsa-miR-3074-3p	CLIP-seq
MIRT2297297	hsa-miR-3142	CLIP-seq
MIRT2297298	hsa-miR-34a	CLIP-seq
MIRT2297299	hsa-miR-34c-5p	CLIP-seq
MIRT2297300	hsa-miR-3613-3p	CLIP-seq
MIRT2297301	hsa-miR-3677-5p	CLIP-seq
MIRT2297302	hsa-miR-3926	CLIP-seq
MIRT2070086	hsa-miR-412	CLIP-seq
MIRT1238104	hsa-miR-421	CLIP-seq
MIRT2297303	hsa-miR-4251	CLIP-seq
MIRT1238105	hsa-miR-4260	CLIP-seq
MIRT2297304	hsa-miR-4329	CLIP-seq
MIRT2297305	hsa-miR-4436b-3p	CLIP-seq
MIRT1238111	hsa-miR-4450	CLIP-seq
MIRT2297306	hsa-miR-4493	CLIP-seq
MIRT2297307	hsa-miR-449a	CLIP-seq
MIRT2297308	hsa-miR-449b	CLIP-seq
MIRT2297309	hsa-miR-449c	CLIP-seq
MIRT1238115	hsa-miR-450b-5p	CLIP-seq
MIRT2297310	hsa-miR-4514	CLIP-seq
MIRT2297311	hsa-miR-4645-5p	CLIP-seq
MIRT2297312	hsa-miR-4673	CLIP-seq
MIRT2297313	hsa-miR-4685-5p	CLIP-seq
MIRT2297314	hsa-miR-4692	CLIP-seq
MIRT2297315	hsa-miR-4755-3p	CLIP-seq
MIRT2070092	hsa-miR-4778-3p	CLIP-seq
MIRT1238128	hsa-miR-4782-5p	CLIP-seq
MIRT2297316	hsa-miR-4786-3p	CLIP-seq
MIRT1238130	hsa-miR-5047	CLIP-seq
MIRT1238132	hsa-miR-507	CLIP-seq
MIRT2297317	hsa-miR-548s	CLIP-seq
MIRT2297318	hsa-miR-554	CLIP-seq
MIRT1238138	hsa-miR-557	CLIP-seq
MIRT2070100	hsa-miR-600	CLIP-seq
MIRT2070101	hsa-miR-617	CLIP-seq
MIRT2297319	hsa-miR-622	CLIP-seq
MIRT2070102	hsa-miR-642b	CLIP-seq
MIRT2297320	hsa-miR-665	CLIP-seq
MIRT2297321	hsa-miR-671-5p	CLIP-seq
MIRT2594631	hsa-miR-1197	CLIP-seq
MIRT2594632	hsa-miR-3117-3p	CLIP-seq
MIRT2594633	hsa-miR-409-3p	CLIP-seq
MIRT2594634	hsa-miR-550b	CLIP-seq
MIRT2594631	hsa-miR-1197	CLIP-seq
MIRT2594632	hsa-miR-3117-3p	CLIP-seq
MIRT2594633	hsa-miR-409-3p	CLIP-seq
MIRT2594634	hsa-miR-550b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0002159	Process	Desmosome assembly	IMP	18474624
GO:0002934	Process	Desmosome organization	IBA
GO:0003677	Function	DNA binding	IDA	20613778
GO:0005080	Function	Protein kinase C binding	IPI	18474624
GO:0005515	Function	Protein binding	IPI	10852826, 11416169, 11790773, 12941695, 15778465, 25416956, 25910212, 28169297, 31515488, 32296183, 32353859, 33060197, 35271311, 36217030, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11416169, 11790773, 20613778, 34368962
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	8922383
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	34368962
GO:0005737	Component	Cytoplasm	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23863954, 30949721
GO:0005886	Component	Plasma membrane	TAS	8922383
GO:0005911	Component	Cell-cell junction	IDA	23884246
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005911	Component	Cell-cell junction	TAS	8922383
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007267	Process	Cell-cell signaling	IMP	22889254
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	ISS
GO:0010810	Process	Regulation of cell-substrate adhesion	IMP	23884246
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	22781308
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	TAS	8922383
GO:0017080	Function	Sodium channel regulator activity	ISS
GO:0019215	Function	Intermediate filament binding	IDA	10852826
GO:0030054	Component	Cell junction	IDA
GO:0030057	Component	Desmosome	IDA	20613778, 20859650, 34368962
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0030057	Component	Desmosome	NAS	8922383
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045110	Process	Intermediate filament bundle assembly	IBA
GO:0045110	Process	Intermediate filament bundle assembly	IMP	18474624
GO:0045294	Function	Alpha-catenin binding	IPI	23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0048496	Process	Maintenance of animal organ identity	IMP	22889254
GO:0051286	Component	Cell tip	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	22889254
GO:0060090	Function	Molecular adaptor activity	IMP	18474624
GO:0070161	Component	Anchoring junction	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IMP	23863954
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	22889254
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	22889254
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	ISS
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	22889254
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	22889254
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17980246, 22889254
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0098609	Process	Cell-cell adhesion	NAS	8922383
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	22889254
GO:0099017	Process	Maintenance of protein localization at cell tip	IEA
GO:0099017	Process	Maintenance of protein localization at cell tip	ISS
GO:1900024	Process	Regulation of substrate adhesion-dependent cell spreading	IMP	23884246

Other IDs

• MIM: 602861
• HGNC: 9024
• e!Ensembl: ENSG00000057294

Protein

• UniProt ID: Q99959
• Protein name: Plakophilin-2
• Protein function: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, pote
• PDB: 3TT9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	384 → 424	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed at intercalated disks in the heart (at protein level) (PubMed:18662195). Expressed in gingival epithelial, endothelial and fibroblast cells (at protein level) (PubMed:34368962). Faintly expressed in tracheal epithelial cells
• Sequence:

  MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSGRGGQTVKSLRIQEQV
  QQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPVPKTYDMLKAGTTATYE
  GRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTHSDYQYSQRSQAGHTLHH
  QESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQHGSVSDTVFDSIPANPAL
  LTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVTQNRASRSSWHQSSFHSTRT
  LREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFTDSQLGNADMEMTLERAVSML
  EADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILKLLQLLKVQNEDVQRAVCGALR
  NLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQITDHTVNLRSRNGWPGAVAHACN
  PSTLGGQGGRITRSGVRDQPDQHGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPE
  GDYPKANGLLDFDIFYNVTGCLRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPD
  DKATENCVCILHNLSYQLEAELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQ
  DVPMPEEKSNPKGVEWLWHSIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSV
  AQTVVQKESGLQHTRKMLHVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPD
  TVPSTDLLIETTASACYTLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAA
  SVLLYSLWAHTELHHAYKKAQFKKTDFVNSRTAKAYHSLKD

• Sequence length: 881

Pathways

KEGG:

Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

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 cardiomyopathy	Pathogenic	rs2541339781	RCV002509866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic; Likely pathogenic	rs1956690062, rs2137773640, rs2137947261, rs2137946556, rs2137777604, rs727504786, rs727504430, rs727504432, rs786204389, rs786204388, rs786205353, rs794729116, rs794729130, rs764817683, rs201405287, rs78897684, rs794729137, rs794729126, rs794729133, rs766209297, rs754912778, rs772220644, rs767987619, rs794729122, rs769220833, rs763639737, rs794729120, rs121434420, rs121434421, rs193922674, rs111517471, rs869025496, rs876657659, rs886041322, rs2541285839, rs1484820531, rs2541385249, rs779241371, rs2541385187, rs1485712667, rs794729106, rs1064794350, rs1555148271, rs958681660, rs193922672, rs878898365, rs1555142994, rs1555148032, rs1555147210, rs1555148011, rs1555148035, rs1555142971, rs1555148259, rs397516986, rs397516987, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516996, rs397516997, rs397517001, rs397517003, rs397517005, rs397517008, rs397517009, rs397517010, rs397517012, rs397517013, rs397517015, rs397517017, rs397517021, rs397517022, rs397517025, rs397517030, rs1565574709, rs762753884, rs1591828796, rs1592738654, rs1393661338, rs1957129506	RCV002260405 RCV002260439 RCV002260440 RCV002260441 RCV002260476 RCV000156104 RCV000154661 RCV000154671 RCV000168929 RCV004806157 RCV000171843 RCV003996842 RCV004017465 RCV004017464 RCV003996838 RCV004017463 RCV000217215 RCV002251442 RCV004806179 RCV000208105 RCV003996831 RCV003996844 RCV003996830 RCV003996843 RCV000600205 RCV004017466 RCV000852449 RCV000211843 RCV000211738 RCV000054811 RCV000157417 RCV000208519 RCV000214880 RCV003995751 RCV004015375 RCV004018251 RCV004018334 RCV004018335 RCV004018340 RCV004018389 RCV004018392 RCV004003320 RCV004003637 RCV004003642 RCV000030359 RCV004002440 RCV000604450 RCV000616989 RCV000607669 RCV000616047 RCV000601848 RCV000627149 RCV000627148 RCV004003907 RCV000211737 RCV000038150 RCV000038154 RCV000038155 RCV000038158 RCV000038159 RCV000038161 RCV000038166 RCV000157418 RCV000038175 RCV000038177 RCV000038180 RCV000038185 RCV000038186 RCV000038187 RCV000211841 RCV000038191 RCV000038194 RCV000038199 RCV000211842 RCV000038205 RCV000038212 RCV000038216 RCV000038232 RCV004017740 RCV004001815 RCV000825601 RCV004017755 RCV000853147 RCV004000283 RCV004006521	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic right ventricular dysplasia 1	Likely pathogenic	rs1956082474	RCV001256700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic; Pathogenic	rs2137774389, rs2137783366, rs2137919527, rs532048791, rs2137950985, rs2137831087, rs1453983744, rs1393661338, rs1325285497, rs2137946568, rs2137946218, rs2137830958, rs2137952423, rs1956391770, rs2137777670, rs2137778300, rs2137698036, rs2137950376, rs1956378850, rs2137950267, rs2137953226, rs2137952811, rs2137952495, rs2137946195, rs1158333072, rs1956690062, rs2137948074, rs397516987, rs2541322583, rs727504430, rs727504432, rs2541338462, rs1447337068, rs2541229674, rs2541189820, rs786204393, rs786204392, rs786204389, rs786204388, rs1214999277, rs786205476, rs786205353, rs760576804, rs794729098, rs794729116, rs764817683, rs751288871, rs794729129, rs794729128, rs78897684, rs794729127, rs794729137, rs794729126, rs794729125, rs762103704, rs794729133, rs766209297, rs794729124, rs754912778, rs772220644, rs767987619, rs794729122, rs769220833, rs794729103, rs794729132, rs774663443, rs763639737, rs794729120, rs794729107, rs2541340225, rs2541343011, rs1555142907, rs757849830, rs2541286911, rs2541337920, rs2541184950, rs1204333387, rs2541265153, rs2541345285, rs2541234463, rs1225845438, rs2541338115, rs2541384623, rs2541384294, rs2541264915, rs2541342647, rs121434420, rs121434421, rs193922674, rs111517471, rs1956960817, rs869025496, rs2541344386, rs2541265388, rs878854710, rs1592737769, rs886041322, rs2541200399, rs2541384720, rs199643407, rs770498155, rs1956082308, rs2541200961, rs2541339186, rs747504380, rs2541341442, rs397516997, rs1226953182, rs2541232121, rs2541231754, rs2137772673, rs2541338791, rs1486464304, rs2541184794, rs2541340434, rs2541336939, rs2541229697, rs758097199, rs752060568, rs2541184345, rs1485712667, rs1064792927, rs1064792929, rs1064792928, rs1060501184, rs1060501186, rs1060501182, rs1555143134, rs1064794350, rs1555142963, rs1064793231, rs1064796069, rs1555143143, rs1555149952, rs762288961, rs958681660, rs193922672, rs193922673, rs1353074803, rs1555149975, rs1555145509, rs1425855043, rs763303290, rs1555144459, rs1555148035, rs1555142984, rs1555145520, rs1373300155, rs1555148048, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397517001, rs397517003, rs397517010, rs397517012, rs397517013, rs397517021, rs397517022, rs1565599473, rs1565586921, rs1565586958, rs1592729525, rs762753884, rs1591828796, rs1318070848, rs1956192035, rs1396519956, rs930283260, rs1957127435, rs1956374971, rs1957129506, rs1957126844, rs1956120794, rs1956120988, rs1956192249, rs1432861552, rs1257456477, rs1956082403, rs1444213066	RCV001377890 RCV001384945 RCV001390178 RCV001389694 RCV001386917 RCV003507376 RCV005094808 RCV001724742 RCV001868826 RCV001800163 RCV001838972 RCV001839442 RCV001848630 RCV001887779 RCV001943146 RCV002036135 RCV001870627 RCV001900827 RCV001994482 RCV001872924 RCV001918033 RCV001941937 RCV001864022 RCV001953666 RCV001959066 RCV001955774 RCV001886272 RCV002249134 RCV002273015 RCV002289249 RCV001237410 RCV000470468 RCV003617996 RCV003507448 RCV002471503 RCV002470660 RCV001389963 RCV000168932 RCV000543165 RCV001389964 RCV003058369 RCV003992206 RCV005055671 RCV000177212 RCV000456556 RCV002517817 RCV001852371 RCV000609212 RCV000794298 RCV003765143 RCV000702665 RCV000699079 RCV000229546 RCV001852370 RCV002516934 RCV001049197 RCV001048332 RCV000709751 RCV000477267 RCV001218972 RCV000464940 RCV000592966 RCV000640014 RCV000794490 RCV003508862 RCV000624999 RCV001068398 RCV000463730 RCV001221489 RCV002890496 RCV002806830 RCV002819002 RCV002857032 RCV002847600 RCV002876748 RCV002899013 RCV002863872 RCV002848276 RCV002899205 RCV002913879 RCV002900590 RCV002908047 RCV003008240 RCV003000162 RCV003025803 RCV003049582 RCV003057873 RCV003049560 RCV000007146 RCV000007147 RCV000007148 RCV000007149 RCV003048230 RCV000692391 RCV002789999 RCV003135746 RCV000229323 RCV003148166 RCV002519038 RCV003326299 RCV003340737 RCV003388971 RCV003508117 RCV003508854 RCV003508855 RCV003508858 RCV003508859 RCV003508860 RCV003508861 RCV003508864 RCV003507167 RCV003507134 RCV003507842 RCV003618237 RCV003618427 RCV003618636 RCV003618769 RCV003617302 RCV003617316 RCV003618716 RCV003617352 RCV003849267 RCV003867146 RCV003990114 RCV005103367 RCV000473315 RCV000458870 RCV000472745 RCV000456706 RCV000475518 RCV000461691 RCV000466040 RCV001239834 RCV005090972 RCV001067162 RCV001851243 RCV000530347 RCV001853663 RCV001853680 RCV001197670 RCV000470376 RCV000656557 RCV000541578 RCV000525388 RCV000551855 RCV000537958 RCV000805693 RCV000678352 RCV002528785 RCV000614039 RCV001383319 RCV001001115 RCV003485617 RCV002529810 RCV000640023 RCV000640024 RCV000798628 RCV002513498 RCV000603676 RCV000471559 RCV005051739 RCV003507249 RCV002513499 RCV000228638 RCV002513500 RCV000689131 RCV000640015 RCV000531123 RCV000640004 RCV000539343 RCV001246063 RCV001262835 RCV000700020 RCV000704429 RCV000688615 RCV000793628 RCV000818836 RCV002536058 RCV000850014 RCV003508856 RCV001041240 RCV001066775 RCV001062321 RCV001057002 RCV003617894 RCV001873651 RCV001875915 RCV001389962 RCV001216121 RCV001213810 RCV001207568 RCV001203788 RCV001204461 RCV001202833 RCV001205630 RCV003147602	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic ventricular cardiomyopathy	Pathogenic; Likely pathogenic	rs111517471, rs397516996	RCV000714906 RCV000714902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrhythmia	Pathogenic; Likely pathogenic	rs121434420, rs397516989, rs397516996	RCV001841230 RCV001841581 RCV001841582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs2137829787, rs2137948943, rs1956945634, rs532048791, rs727504432, rs786204392, rs786204388, rs760576804, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs121434420, rs121434421, rs193922674, rs111517471, rs869025496, rs2541200709, rs765852160, rs886041322, rs2541231907, rs1064792928, rs1064794350, rs1555142963, rs193922672, rs1425855043, rs878898365, rs1555144459, rs1555148035, rs1555142971, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs1565590309, rs1592729525, rs762753884, rs1956192035, rs1956374971, rs1956689333, rs1956688410, rs1956873853, rs1957129506, rs779082302	RCV001799313 RCV001799314 RCV001799315 RCV003533153 RCV001191916 RCV001798607 RCV001798606 RCV001177380 RCV003486740 RCV003532042 RCV001183812 RCV003532040 RCV003532039 RCV003532043 RCV001170219 RCV001183229 RCV003486741 RCV005401368 RCV005402876 RCV001190184 RCV005402796 RCV000771879 RCV001171154 RCV000218069 RCV003150762 RCV003150764 RCV005401411 RCV003532769 RCV001805063 RCV005401463 RCV000769390 RCV001189477 RCV000769393 RCV003532181 RCV000604904 RCV003532195 RCV003150311 RCV005401544 RCV001179300 RCV005402820 RCV001170218 RCV003486567 RCV003531935 RCV005401297 RCV000769400 RCV001181319 RCV001525490 RCV001171163 RCV001188338 RCV001171157 RCV000770417 RCV003532262 RCV001178375 RCV001177243 RCV001171159 RCV001170217 RCV001191025 RCV001177186 RCV001178978 RCV001183664 RCV001281667	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2137953226, rs1158333072, rs532048791, rs727504432, rs2541342283, rs2541338462, rs2541338147, rs779241371, rs2541184876, rs1447337068, rs2541229274, rs2541344871, rs786204393, rs786204392, rs786204389, rs786204388, rs760576804, rs794729098, rs794729116, rs764817683, rs751288871, rs794729128, rs78897684, rs794729127, rs794729137, rs762103704, rs794729133, rs754912778, rs772220644, rs767987619, rs794729122, rs769220833, rs794729132, rs774663443, rs763639737, rs794729107, rs121434420, rs121434421, rs193922674, rs111517471, rs869025496, rs1956082308, rs758097199, rs1064792927, rs1064792928, rs1064794350, rs1555142963, rs1064793231, rs1555148271, rs1555149952, rs762288961, rs193922672, rs1555149975, rs878898365, rs1555144459, rs1555142984, rs1453983744, rs1555145520, rs1555148090, rs1373300155, rs397516986, rs397516987, rs397516989, rs372827156, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517013, rs397517021, rs1565590309, rs1565574709, rs1592729525, rs1318070848, rs1396519956, rs930283260, rs1393661338, rs1957126844, rs1257456477, rs1444213066, rs1956120566	RCV003167057 RCV005405794 RCV004047480 RCV000251945 RCV002328722 RCV002385362 RCV002376491 RCV002387031 RCV002433005 RCV002410692 RCV002417687 RCV002437396 RCV002326930 RCV005462902 RCV000254457 RCV002426802 RCV002345614 RCV003165405 RCV002446279 RCV000622076 RCV002415788 RCV002415787 RCV002408812 RCV002408810 RCV002399681 RCV000619593 RCV002381608 RCV002326994 RCV004020235 RCV003165406 RCV000620046 RCV002362943 RCV002345646 RCV002354495 RCV000621084 RCV005384668 RCV006342608 RCV000246785 RCV002426495 RCV000252055 RCV000618114 RCV000587793 RCV004369274 RCV004369275 RCV004987099 RCV005452988 RCV005462977 RCV002431401 RCV002413336 RCV002413316 RCV002431490 RCV005692214 RCV002413418 RCV000621931 RCV004984961 RCV000621081 RCV004025016 RCV000620681 RCV000619338 RCV000618254 RCV000621331 RCV006342409 RCV002388062 RCV000621345 RCV002326740 RCV002354195 RCV000619035 RCV005384645 RCV000244525 RCV002390156 RCV002408517 RCV002408518 RCV000242219 RCV000622111 RCV000247451 RCV002360879 RCV006342542 RCV006342552 RCV006343042 RCV002402459 RCV002393306 RCV002379674 RCV005702453 RCV003293996 RCV005405557 RCV004659451	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial isolated arrhythmogenic right ventricular dysplasia	Pathogenic; Likely pathogenic	rs1325285497, rs727504432, rs786204389, rs794729098, rs764817683, rs794729137, rs794729126, rs772220644, rs794729132, rs111517471, rs1197820814, rs1064792928, rs1064794350, rs193922672, rs193922673, rs878898365, rs1555142994, rs397516986, rs372827156, rs397516993, rs397516997, rs397517010, rs397517012, rs397517021, rs1393661338, rs1432861552	RCV001779518 RCV002469029 RCV004689647 RCV003114339 RCV005406910 RCV001260419 RCV001251408 RCV004800320 RCV001193344 RCV001526972 RCV003317864 RCV002307502 RCV000587679 RCV001293424 RCV005417438 RCV000589832 RCV000588591 RCV004700308 RCV000588929 RCV004782030 RCV001293469 RCV002265578 RCV001175485 RCV000587629 RCV001174751 RCV003387973	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs397517021, rs1956121988	RCV005622036 RCV005054337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs2137919964	RCV001818107	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 1	Likely pathogenic	rs786204395	RCV000586198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1592737769	RCV005927095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PKP2-related disorder	Likely pathogenic; Pathogenic	rs2137830958, rs794729124, rs121434421, rs193922674, rs372827156, rs397516997, rs397517021	RCV004728839 RCV003398913 RCV004724729 RCV003924809 RCV003952434 RCV004742235 RCV004742236	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sudden unexplained death	Likely pathogenic; Pathogenic	rs786204388, rs111517471, rs1181152684	RCV000999610 RCV005054136 RCV001089604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs794729116	RCV005931931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular tachycardia	Likely pathogenic; Pathogenic	rs727504432, rs397517025	RCV000852448 RCV000415162	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, hereditary systemic 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AV junctional rhythm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRUGADA SYNDROME 1	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ 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, 1S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1S	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 3B	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duchenne muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Family history of cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	-; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	10374264		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31126818		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	22035158, 23651034, 30790397	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	15489853, 16415378, 16505173, 16549640, 16567567, 16799251, 16876743, 16893920, 16917092, 17010805, 17033975, 17041889, 17521752, 18508782, 18662195, 19084810, 19302745, 19427443, 19533476, 19955750, 20031616, 20124997, 20596727, 20829228, 21378009, 21397041, 21822014, 21908389, 22019812, 22035158, 22036071, 22170284, 22727198, 22781308, 22798562, 22889254, 23147395, 23168288, 23307527, 23354045, 23486541, 23810894, 23871674, 24200905, 24238504, 24352520, 24967631, 25034067, 25676813, 25837155, 25857910, 26264440, 26688388, 26701096, 27000522, 27030002, 28253841, 28431057, 28523642, 29034900, 29178656, 29705154, 29802319, 30476063, 30568602, 30782136, 30790397, 31315456, 31347734, 31386562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	15489853, 16415378, 16549640, 16567567, 16774985, 16893920, 17010805, 18554203, 18662195, 19084810, 19279339, 19302745, 19358943, 19427443, 19863551, 19880068, 19955750, 20031616, 20031617, 20129281, 20152563, 20400443, 20525856, 20857253, 20864495, 21301620, 21606390, 21606396, 21636032, 21822014, 22019812, 22177269, 22214898, 22458570, 23178689, 23347029, 23514727, 23671136, 23810883, 23810894, 23812740, 23871674, 23871885, 23973953, 2412583, 24125834, 24200905, 24585727, 24704780, 24967631, 25087486, 25447171, 25525159, 25820315, 25857910, 26264440, 26676851, 27335691, 27532257, 27727376, 28253841, 28341588, 28431057, 28588093, 29178656, 30562116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	16415378, 16549640, 16567567, 16876743, 17521752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	16415378, 16698823, 16799251, 17010805, 17033975, 17041889, 18596851, 19084810, 19358943, 19533476, 20031617, 20124997, 20152563, 21636032, 21822014, 21908389, 22019812, 22035158, 22214898, 23168288, 23486541, 23514727, 23810894, 24967631, 25034067, 25315082, 25445213, 25837155, 26701096, 28215569, 28253841, 28767663, 29034900, 29178656, 29221435, 29288195, 29497013, 29961461, 30129429, 30219716, 30391969, 30678776, 30764827, 30782136, 30790397, 30985088, 31386562, 32362023, 32397162, 32443836, 32485643, 32504717, 32768677, 32916635, 33640690, 33743362, 33831308, 34034221, 34120153, 34134068, 34191271, 34469894, 34953065, 35063130, 35536239, 35627167, 35766183, 35819174, 36768439, 37393721, 37418234, 37433034, 37510372, 37595583, 37632291, 37833253, 37851708, 38382214, 40282378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	23500315, 27532257, 27761167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	26590176, 35628349	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia Familial 9	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	21908389, 39332132	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINGEN_DG	11790773, 15479741, 15489853, 16415378, 19533476, 24200905, 25857910, 8922383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	15489853, 19533476, 19863551, 19955750, 20031617, 22781308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	15489853, 16415378, 16549640, 16567567, 16893920, 17010805, 18554203, 19084810, 19279339, 19302745, 19358943, 19863551, 19880068, 19955750, 20031616, 20031617, 20152563, 20400443, 20525856, 20829228, 20857253, 20864495, 21301620, 21606390, 21606396, 21636032, 21822014, 22019812, 22214898, 22781308, 23307527, 23347029, 23514727, 23671136, 23810883, 23812740, 23863954, 23871674, 23889974, 23911551, 24070718, 24200905, 24585727, 24704780, 24784157, 24832006, 24967631, 25087486, 25447171, 25765472, 26676851, 26701096, 26743238, 27335691, 27532257, 28588093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	16301704, 23500315, 27532257, 27761167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416818, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	30061737, 31539150, 36669898	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	36352534	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG	15489853, 16549640, 22781308		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Brugada syndrome	Brugada Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome	Brugada syndrome	Pubtator	32443836	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	18508782, 24352520, 24656989, 27085656, 27122407		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	19661460, 22764151, 24352520, 24656989, 24681023, 25900994, 25998140, 8922383		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	27085656		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	GENOMICS_ENGLAND_DG	27761167		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	19661460, 22764151, 24352520, 24656989, 24681023, 25900994, 25998140, 8922383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bundle Branch Block	Bundle branch block	Pubtator	34491328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10374264, 8922383		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31126818		★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	19661460, 22764151, 24352520, 24656989, 24681023, 25900994, 25998140, 8922383		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	16549640, 16567567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	20423733, 24704780, 27030002, 28740174, 29253866, 30219716, 30568602, 30830208, 31315456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	28359509, 29253866, 30061737, 30678776, 33260757, 34120153, 35627167, 37449562	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31024045	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26264440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	GENOMICS_ENGLAND_DG	27761167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	21859740, 22177269, 26264440		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	36352534	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29044515		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29044515	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25616645, 26264440, 30765282, 30790397, 30830208		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30948763		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30948763		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30948763		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	27357287		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27357287		★☆☆☆☆ Found in Text Mining only
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
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28124385		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	21378009		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32397162, 37433034, 37607954, 37833253, 38382214, 40282378	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23514727, 28359509, 30790397, 37510372, 40406876	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25616645, 26264440, 30765282, 30790397, 30830208		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28253841		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	27030002		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30082491	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31126818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22119253		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19551809, 28124385, 31126818		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29044515		★☆☆☆☆ Found in Text Mining only
Naxos disease	Naxos Disease	BEFREE	16893920		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22119253, 28323918, 31126818		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31126818		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37607954	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	26800703		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35819174	Associate	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	30678776, 34557911	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	CLINVAR_DG	20152563, 23168288, 24070718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 1	Short qt syndrome	Pubtator	34281161	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CLINGEN_DG	19661460, 22764151, 24352520, 24656989, 24681023, 25900994, 25998140, 8922383		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10374264		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21194493	Associate	★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	29961461, 34491328, 37851708	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	16549640, 31319917		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	23810894, 30568602, 30790397		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	30790397	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	29288195, 29961461, 30790397	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	31319917	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)