ANK2 (ankyrin 2)

Gene

• Entrez ID: 287
• Gene name: Ankyrin 2
• Gene symbol: ANK2
• Synonyms (NCBI Gene): ANK-2, CFAP87, FAP87, LQT4, brank-2
• Chromosome: 4
• Chromosome location: 4q25-q26
• Summary: This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the ma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs29372	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs34591340	G>T	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs35530544	C>A	Likely-benign, benign-likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs45602336	C>T	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs72544141	A>G	Likely-benign, pathogenic, not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs121912705	C>A	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121912706	C>T	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, intron variant
rs140606121	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142534126	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs144848998	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs147458476	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs148405740	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150226540	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, genic upstream transcript variant, missense variant
rs150684838	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs180843436	G>A	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193922637	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs199473346	T>A	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199549660	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs370475820	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs528909081	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs556640912	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs755287627	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs761413864	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs770530257	CAC>-,CACCAC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs786205420	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786205571	C>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs786205724	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796052197	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs796052198	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1588354762	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1588487990	ATTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003081	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT018205	hsa-miR-335-5p	Microarray	18185580
MIRT037121	hsa-miR-877-3p	CLASH	23622248
MIRT781631	hsa-miR-1229	CLIP-seq
MIRT781632	hsa-miR-1261	CLIP-seq
MIRT781633	hsa-miR-1270	CLIP-seq
MIRT781634	hsa-miR-128	CLIP-seq
MIRT781635	hsa-miR-1287	CLIP-seq
MIRT781636	hsa-miR-1297	CLIP-seq
MIRT781637	hsa-miR-141	CLIP-seq
MIRT781638	hsa-miR-142-3p	CLIP-seq
MIRT781639	hsa-miR-144	CLIP-seq
MIRT781640	hsa-miR-200a	CLIP-seq
MIRT781641	hsa-miR-26a	CLIP-seq
MIRT781642	hsa-miR-26b	CLIP-seq
MIRT781643	hsa-miR-27a	CLIP-seq
MIRT781644	hsa-miR-27b	CLIP-seq
MIRT781645	hsa-miR-28-5p	CLIP-seq
MIRT781646	hsa-miR-3065-5p	CLIP-seq
MIRT781647	hsa-miR-3135b	CLIP-seq
MIRT781648	hsa-miR-3139	CLIP-seq
MIRT781649	hsa-miR-3145-5p	CLIP-seq
MIRT781650	hsa-miR-342-3p	CLIP-seq
MIRT781651	hsa-miR-3668	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT781653	hsa-miR-3924	CLIP-seq
MIRT781654	hsa-miR-3973	CLIP-seq
MIRT781655	hsa-miR-4272	CLIP-seq
MIRT781656	hsa-miR-4465	CLIP-seq
MIRT781657	hsa-miR-4683	CLIP-seq
MIRT781658	hsa-miR-4727-3p	CLIP-seq
MIRT781659	hsa-miR-489	CLIP-seq
MIRT781660	hsa-miR-514	CLIP-seq
MIRT781661	hsa-miR-514b-3p	CLIP-seq
MIRT781662	hsa-miR-548l	CLIP-seq
MIRT781663	hsa-miR-555	CLIP-seq
MIRT781664	hsa-miR-558	CLIP-seq
MIRT781665	hsa-miR-620	CLIP-seq
MIRT781666	hsa-miR-708	CLIP-seq
MIRT781638	hsa-miR-142-3p	CLIP-seq
MIRT781651	hsa-miR-3668	CLIP-seq
MIRT781653	hsa-miR-3924	CLIP-seq
MIRT781658	hsa-miR-4727-3p	CLIP-seq
MIRT781663	hsa-miR-555	CLIP-seq
MIRT781637	hsa-miR-141	CLIP-seq
MIRT781640	hsa-miR-200a	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT781659	hsa-miR-489	CLIP-seq
MIRT781660	hsa-miR-514	CLIP-seq
MIRT781661	hsa-miR-514b-3p	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT781659	hsa-miR-489	CLIP-seq
MIRT781660	hsa-miR-514	CLIP-seq
MIRT781661	hsa-miR-514b-3p	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT781659	hsa-miR-489	CLIP-seq
MIRT1930693	hsa-miR-493	CLIP-seq
MIRT781660	hsa-miR-514	CLIP-seq
MIRT781661	hsa-miR-514b-3p	CLIP-seq
MIRT2171293	hsa-miR-140-5p	CLIP-seq
MIRT781639	hsa-miR-144	CLIP-seq
MIRT2171294	hsa-miR-199a-5p	CLIP-seq
MIRT2171295	hsa-miR-199b-5p	CLIP-seq
MIRT2171296	hsa-miR-2682	CLIP-seq
MIRT2171297	hsa-miR-34a	CLIP-seq
MIRT2171298	hsa-miR-34c-5p	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT2171299	hsa-miR-4422	CLIP-seq
MIRT2171300	hsa-miR-449a	CLIP-seq
MIRT2171301	hsa-miR-449b	CLIP-seq
MIRT2171302	hsa-miR-449c	CLIP-seq
MIRT781659	hsa-miR-489	CLIP-seq
MIRT781660	hsa-miR-514	CLIP-seq
MIRT781661	hsa-miR-514b-3p	CLIP-seq
MIRT2171303	hsa-miR-940	CLIP-seq
MIRT2384150	hsa-miR-1184	CLIP-seq
MIRT2384151	hsa-miR-1205	CLIP-seq
MIRT2384152	hsa-miR-1257	CLIP-seq
MIRT2384153	hsa-miR-1279	CLIP-seq
MIRT2384154	hsa-miR-3158-5p	CLIP-seq
MIRT2384155	hsa-miR-3614-5p	CLIP-seq
MIRT2384156	hsa-miR-3665	CLIP-seq
MIRT2384157	hsa-miR-3911	CLIP-seq
MIRT2384158	hsa-miR-4461	CLIP-seq
MIRT2384159	hsa-miR-448	CLIP-seq
MIRT2384160	hsa-miR-4527	CLIP-seq
MIRT2384161	hsa-miR-4635	CLIP-seq
MIRT2384162	hsa-miR-4658	CLIP-seq
MIRT2384163	hsa-miR-4709-3p	CLIP-seq
MIRT2384164	hsa-miR-4758-5p	CLIP-seq
MIRT2384165	hsa-miR-4765	CLIP-seq
MIRT2384166	hsa-miR-494	CLIP-seq
MIRT2384167	hsa-miR-657	CLIP-seq
MIRT2384168	hsa-miR-668	CLIP-seq
MIRT2474099	hsa-miR-106a	CLIP-seq
MIRT2474100	hsa-miR-106b	CLIP-seq
MIRT2474101	hsa-miR-1179	CLIP-seq
MIRT2474102	hsa-miR-1185	CLIP-seq
MIRT2474103	hsa-miR-1202	CLIP-seq
MIRT2474104	hsa-miR-1204	CLIP-seq
MIRT2474105	hsa-miR-1224-3p	CLIP-seq
MIRT2474106	hsa-miR-1226	CLIP-seq
MIRT781631	hsa-miR-1229	CLIP-seq
MIRT2474107	hsa-miR-1252	CLIP-seq
MIRT2384152	hsa-miR-1257	CLIP-seq
MIRT781632	hsa-miR-1261	CLIP-seq
MIRT781633	hsa-miR-1270	CLIP-seq
MIRT2474108	hsa-miR-1272	CLIP-seq
MIRT2474109	hsa-miR-1273g	CLIP-seq
MIRT2474110	hsa-miR-1275	CLIP-seq
MIRT2474111	hsa-miR-1276	CLIP-seq
MIRT2384153	hsa-miR-1279	CLIP-seq
MIRT781634	hsa-miR-128	CLIP-seq
MIRT2474112	hsa-miR-1285	CLIP-seq
MIRT781635	hsa-miR-1287	CLIP-seq
MIRT2474113	hsa-miR-1289	CLIP-seq
MIRT2474114	hsa-miR-1292	CLIP-seq
MIRT2474115	hsa-miR-129-5p	CLIP-seq
MIRT781636	hsa-miR-1297	CLIP-seq
MIRT2474116	hsa-miR-1298	CLIP-seq
MIRT2474117	hsa-miR-1299	CLIP-seq
MIRT2474118	hsa-miR-1304	CLIP-seq
MIRT2474119	hsa-miR-133a	CLIP-seq
MIRT2474120	hsa-miR-133b	CLIP-seq
MIRT781639	hsa-miR-144	CLIP-seq
MIRT2474121	hsa-miR-146a	CLIP-seq
MIRT2474122	hsa-miR-146b-5p	CLIP-seq
MIRT2474123	hsa-miR-147	CLIP-seq
MIRT2474124	hsa-miR-1470	CLIP-seq
MIRT2474125	hsa-miR-17	CLIP-seq
MIRT2474126	hsa-miR-182	CLIP-seq
MIRT2474127	hsa-miR-1915	CLIP-seq
MIRT2474128	hsa-miR-20a	CLIP-seq
MIRT2474129	hsa-miR-20b	CLIP-seq
MIRT2474130	hsa-miR-22	CLIP-seq
MIRT2474131	hsa-miR-221	CLIP-seq
MIRT2474132	hsa-miR-222	CLIP-seq
MIRT2474133	hsa-miR-2392	CLIP-seq
MIRT2474134	hsa-miR-2467-5p	CLIP-seq
MIRT781641	hsa-miR-26a	CLIP-seq
MIRT781642	hsa-miR-26b	CLIP-seq
MIRT781643	hsa-miR-27a	CLIP-seq
MIRT781644	hsa-miR-27b	CLIP-seq
MIRT781645	hsa-miR-28-5p	CLIP-seq
MIRT2474135	hsa-miR-298	CLIP-seq
MIRT2474136	hsa-miR-29a	CLIP-seq
MIRT2474137	hsa-miR-29b	CLIP-seq
MIRT2474138	hsa-miR-29c	CLIP-seq
MIRT2474139	hsa-miR-302a	CLIP-seq
MIRT2474140	hsa-miR-302b	CLIP-seq
MIRT2474141	hsa-miR-302c	CLIP-seq
MIRT2474142	hsa-miR-302d	CLIP-seq
MIRT2474143	hsa-miR-302e	CLIP-seq
MIRT2474144	hsa-miR-3064-3p	CLIP-seq
MIRT2474145	hsa-miR-3065-3p	CLIP-seq
MIRT781646	hsa-miR-3065-5p	CLIP-seq
MIRT2474146	hsa-miR-3120-3p	CLIP-seq
MIRT2474147	hsa-miR-3125	CLIP-seq
MIRT2474148	hsa-miR-3130-3p	CLIP-seq
MIRT781647	hsa-miR-3135b	CLIP-seq
MIRT781648	hsa-miR-3139	CLIP-seq
MIRT2474149	hsa-miR-3148	CLIP-seq
MIRT2474150	hsa-miR-3152-3p	CLIP-seq
MIRT2474151	hsa-miR-3153	CLIP-seq
MIRT2474152	hsa-miR-3168	CLIP-seq
MIRT2474153	hsa-miR-3187-5p	CLIP-seq
MIRT2474154	hsa-miR-3188	CLIP-seq
MIRT2474155	hsa-miR-3192	CLIP-seq
MIRT2474156	hsa-miR-3194-5p	CLIP-seq
MIRT2474157	hsa-miR-3198	CLIP-seq
MIRT2474158	hsa-miR-323-3p	CLIP-seq
MIRT781650	hsa-miR-342-3p	CLIP-seq
MIRT2474159	hsa-miR-34c-3p	CLIP-seq
MIRT2474160	hsa-miR-3591-5p	CLIP-seq
MIRT2474161	hsa-miR-3605-5p	CLIP-seq
MIRT2474162	hsa-miR-3611	CLIP-seq
MIRT2474163	hsa-miR-3613-3p	CLIP-seq
MIRT2384155	hsa-miR-3614-5p	CLIP-seq
MIRT2474164	hsa-miR-3616-5p	CLIP-seq
MIRT2474165	hsa-miR-3646	CLIP-seq
MIRT2474166	hsa-miR-3647-3p	CLIP-seq
MIRT2474167	hsa-miR-3647-5p	CLIP-seq
MIRT2474168	hsa-miR-3650	CLIP-seq
MIRT2474169	hsa-miR-3652	CLIP-seq
MIRT2474170	hsa-miR-3662	CLIP-seq
MIRT2474171	hsa-miR-3663-5p	CLIP-seq
MIRT2474172	hsa-miR-3664-5p	CLIP-seq
MIRT2474173	hsa-miR-3678-3p	CLIP-seq
MIRT2474174	hsa-miR-3679-5p	CLIP-seq
MIRT2474175	hsa-miR-3689d	CLIP-seq
MIRT2474176	hsa-miR-371-5p	CLIP-seq
MIRT2474177	hsa-miR-371b-5p	CLIP-seq
MIRT2474178	hsa-miR-372	CLIP-seq
MIRT2474179	hsa-miR-373	CLIP-seq
MIRT2474180	hsa-miR-374c	CLIP-seq
MIRT2474181	hsa-miR-376a	CLIP-seq
MIRT2474182	hsa-miR-376b	CLIP-seq
MIRT781652	hsa-miR-3908	CLIP-seq
MIRT2384157	hsa-miR-3911	CLIP-seq
MIRT2474183	hsa-miR-3913-3p	CLIP-seq
MIRT2474184	hsa-miR-3916	CLIP-seq
MIRT2474185	hsa-miR-3942-5p	CLIP-seq
MIRT2474186	hsa-miR-3972	CLIP-seq
MIRT781654	hsa-miR-3973	CLIP-seq
MIRT2474187	hsa-miR-3975	CLIP-seq
MIRT2474188	hsa-miR-3977	CLIP-seq
MIRT2474189	hsa-miR-3978	CLIP-seq
MIRT2474190	hsa-miR-4254	CLIP-seq
MIRT2474191	hsa-miR-4255	CLIP-seq
MIRT2474192	hsa-miR-4263	CLIP-seq
MIRT2474193	hsa-miR-4265	CLIP-seq
MIRT2474194	hsa-miR-4266	CLIP-seq
MIRT781655	hsa-miR-4272	CLIP-seq
MIRT2474195	hsa-miR-4275	CLIP-seq
MIRT2474196	hsa-miR-4287	CLIP-seq
MIRT2474197	hsa-miR-4290	CLIP-seq
MIRT2474198	hsa-miR-4292	CLIP-seq
MIRT2474199	hsa-miR-4294	CLIP-seq
MIRT2474200	hsa-miR-4296	CLIP-seq
MIRT2474201	hsa-miR-4299	CLIP-seq
MIRT2474202	hsa-miR-4300	CLIP-seq
MIRT2474203	hsa-miR-4308	CLIP-seq
MIRT2474204	hsa-miR-4309	CLIP-seq
MIRT2474205	hsa-miR-4311	CLIP-seq
MIRT2474206	hsa-miR-4322	CLIP-seq
MIRT2171299	hsa-miR-4422	CLIP-seq
MIRT2474207	hsa-miR-4427	CLIP-seq
MIRT2474208	hsa-miR-4430	CLIP-seq
MIRT2474209	hsa-miR-4435	CLIP-seq
MIRT2474210	hsa-miR-4456	CLIP-seq
MIRT2384158	hsa-miR-4461	CLIP-seq
MIRT2474211	hsa-miR-4464	CLIP-seq
MIRT781656	hsa-miR-4465	CLIP-seq
MIRT2474212	hsa-miR-4469	CLIP-seq
MIRT2474213	hsa-miR-4471	CLIP-seq
MIRT2384159	hsa-miR-448	CLIP-seq
MIRT2474214	hsa-miR-4493	CLIP-seq
MIRT2474215	hsa-miR-4505	CLIP-seq
MIRT2474216	hsa-miR-450b-5p	CLIP-seq
MIRT2474217	hsa-miR-4519	CLIP-seq
MIRT2474218	hsa-miR-452	CLIP-seq
MIRT2474219	hsa-miR-4520a-5p	CLIP-seq
MIRT2474220	hsa-miR-4520b-5p	CLIP-seq
MIRT2474221	hsa-miR-4521	CLIP-seq
MIRT2474222	hsa-miR-4522	CLIP-seq
MIRT2474223	hsa-miR-4525	CLIP-seq
MIRT2474224	hsa-miR-4648	CLIP-seq
MIRT2474225	hsa-miR-4654	CLIP-seq
MIRT2384162	hsa-miR-4658	CLIP-seq
MIRT2474226	hsa-miR-4659a-3p	CLIP-seq
MIRT2474227	hsa-miR-4659b-3p	CLIP-seq
MIRT2474228	hsa-miR-4665-5p	CLIP-seq
MIRT2474229	hsa-miR-4667-3p	CLIP-seq
MIRT2474230	hsa-miR-4668-5p	CLIP-seq
MIRT2474231	hsa-miR-4672	CLIP-seq
MIRT2474232	hsa-miR-4676-3p	CLIP-seq
MIRT781657	hsa-miR-4683	CLIP-seq
MIRT2474233	hsa-miR-4685-3p	CLIP-seq
MIRT2474234	hsa-miR-4687-3p	CLIP-seq
MIRT2474235	hsa-miR-4698	CLIP-seq
MIRT2474236	hsa-miR-4703-5p	CLIP-seq
MIRT2474237	hsa-miR-4712-5p	CLIP-seq
MIRT2474238	hsa-miR-4713-5p	CLIP-seq
MIRT2474239	hsa-miR-4714-5p	CLIP-seq
MIRT2474240	hsa-miR-4719	CLIP-seq
MIRT2474241	hsa-miR-4723-5p	CLIP-seq
MIRT2474242	hsa-miR-4726-3p	CLIP-seq
MIRT2474243	hsa-miR-4728-3p	CLIP-seq
MIRT2474244	hsa-miR-4742-3p	CLIP-seq
MIRT2474245	hsa-miR-4748	CLIP-seq
MIRT2474246	hsa-miR-4749-3p	CLIP-seq
MIRT2474247	hsa-miR-4753-3p	CLIP-seq
MIRT2474248	hsa-miR-4753-5p	CLIP-seq
MIRT2474249	hsa-miR-4757-5p	CLIP-seq
MIRT2384164	hsa-miR-4758-5p	CLIP-seq
MIRT2384165	hsa-miR-4765	CLIP-seq
MIRT2474250	hsa-miR-4766-3p	CLIP-seq
MIRT2474251	hsa-miR-4768-5p	CLIP-seq
MIRT2474252	hsa-miR-4769-5p	CLIP-seq
MIRT2474253	hsa-miR-4778-3p	CLIP-seq
MIRT2474254	hsa-miR-4793-3p	CLIP-seq
MIRT2474255	hsa-miR-4795-5p	CLIP-seq
MIRT2474256	hsa-miR-485-5p	CLIP-seq
MIRT2384166	hsa-miR-494	CLIP-seq
MIRT2474257	hsa-miR-502-5p	CLIP-seq
MIRT2474258	hsa-miR-507	CLIP-seq
MIRT2474259	hsa-miR-513a-3p	CLIP-seq
MIRT2474260	hsa-miR-519d	CLIP-seq
MIRT2474261	hsa-miR-520a-3p	CLIP-seq
MIRT2474262	hsa-miR-520b	CLIP-seq
MIRT2474263	hsa-miR-520c-3p	CLIP-seq
MIRT2474264	hsa-miR-520d-3p	CLIP-seq
MIRT2474265	hsa-miR-520e	CLIP-seq
MIRT2474266	hsa-miR-520f	CLIP-seq
MIRT2474267	hsa-miR-548a-3p	CLIP-seq
MIRT2474268	hsa-miR-548e	CLIP-seq
MIRT2474269	hsa-miR-548f	CLIP-seq
MIRT2474270	hsa-miR-548g	CLIP-seq
MIRT781662	hsa-miR-548l	CLIP-seq
MIRT2474271	hsa-miR-548p	CLIP-seq
MIRT2474272	hsa-miR-548q	CLIP-seq
MIRT2474273	hsa-miR-548t	CLIP-seq
MIRT2474274	hsa-miR-548v	CLIP-seq
MIRT2474275	hsa-miR-557	CLIP-seq
MIRT781664	hsa-miR-558	CLIP-seq
MIRT2474276	hsa-miR-573	CLIP-seq
MIRT2474277	hsa-miR-582-3p	CLIP-seq
MIRT2474278	hsa-miR-583	CLIP-seq
MIRT2474279	hsa-miR-589	CLIP-seq
MIRT2474280	hsa-miR-601	CLIP-seq
MIRT2474281	hsa-miR-612	CLIP-seq
MIRT781665	hsa-miR-620	CLIP-seq
MIRT2474282	hsa-miR-621	CLIP-seq
MIRT2474283	hsa-miR-625	CLIP-seq
MIRT2474284	hsa-miR-634	CLIP-seq
MIRT2474285	hsa-miR-644	CLIP-seq
MIRT2474286	hsa-miR-655	CLIP-seq
MIRT781666	hsa-miR-708	CLIP-seq
MIRT2474287	hsa-miR-758	CLIP-seq
MIRT2474288	hsa-miR-759	CLIP-seq
MIRT2474289	hsa-miR-765	CLIP-seq
MIRT2474290	hsa-miR-767-3p	CLIP-seq
MIRT2474291	hsa-miR-770-5p	CLIP-seq
MIRT2474292	hsa-miR-875-3p	CLIP-seq
MIRT2474293	hsa-miR-877	CLIP-seq
MIRT2474294	hsa-miR-9	CLIP-seq
MIRT2474295	hsa-miR-920	CLIP-seq
MIRT2474296	hsa-miR-93	CLIP-seq
MIRT2474297	hsa-miR-942	CLIP-seq
MIRT781636	hsa-miR-1297	CLIP-seq
MIRT781641	hsa-miR-26a	CLIP-seq
MIRT781642	hsa-miR-26b	CLIP-seq
MIRT781656	hsa-miR-4465	CLIP-seq
MIRT2474249	hsa-miR-4757-5p	CLIP-seq
MIRT2474258	hsa-miR-507	CLIP-seq
MIRT2474275	hsa-miR-557	CLIP-seq
MIRT781636	hsa-miR-1297	CLIP-seq
MIRT781641	hsa-miR-26a	CLIP-seq
MIRT781642	hsa-miR-26b	CLIP-seq
MIRT781656	hsa-miR-4465	CLIP-seq
MIRT2474249	hsa-miR-4757-5p	CLIP-seq
MIRT2474258	hsa-miR-507	CLIP-seq
MIRT2474275	hsa-miR-557	CLIP-seq
MIRT2474235	hsa-miR-4698	CLIP-seq
MIRT2474249	hsa-miR-4757-5p	CLIP-seq
MIRT2474258	hsa-miR-507	CLIP-seq
MIRT2474275	hsa-miR-557	CLIP-seq
MIRT2474235	hsa-miR-4698	CLIP-seq
MIRT2474249	hsa-miR-4757-5p	CLIP-seq
MIRT2474258	hsa-miR-507	CLIP-seq
MIRT2474275	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	18832177
GO:0003283	Process	Atrial septum development	IMP	18832177
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	15262991, 15611082, 16292983, 17178715, 17474147, 19109891, 19805355, 20489164, 21859974, 26949739, 30021884, 36950384
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	17178715
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006897	Process	Endocytosis	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IBA
GO:0008104	Process	Intracellular protein localization	IGI	15262991, 17242276
GO:0010628	Process	Positive regulation of gene expression	IGI	17242276
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IGI	17178715
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	21859974
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	12571597
GO:0014704	Component	Intercalated disc	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15611082
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	21177872
GO:0019901	Function	Protein kinase binding	IPI	18782775
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030507	Function	Spectrin binding	IBA
GO:0030507	Function	Spectrin binding	IPI	15262991
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0030913	Process	Paranodal junction assembly	IEA
GO:0031430	Component	M band	IEA
GO:0031430	Component	M band	ISS
GO:0031647	Process	Regulation of protein stability	IC	18832177
GO:0031672	Component	A band	ISS
GO:0033292	Process	T-tubule organization	ISS
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0036309	Process	Protein localization to M-band	ISS
GO:0036371	Process	Protein localization to T-tubule	ISS
GO:0042383	Component	Sarcolemma	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043034	Component	Costamere	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IPI	20610380, 21859974
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050821	Process	Protein stabilization	ISS	17178715
GO:0051117	Function	ATPase binding	ISS
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IGI	17242276
GO:0051597	Process	Response to methylmercury	IEA
GO:0051924	Process	Regulation of calcium ion transport	IGI	12571597, 15178757
GO:0051928	Process	Positive regulation of calcium ion transport	ISS
GO:0055037	Component	Recycling endosome	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	15178757
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18832177
GO:0070296	Process	Sarcoplasmic reticulum calcium ion transport	TAS	19098452
GO:0070972	Process	Protein localization to endoplasmic reticulum	IGI	15178757
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IGI	17178715
GO:0072659	Process	Protein localization to plasma membrane	IMP	19805355
GO:0072659	Process	Protein localization to plasma membrane	ISS	21859974
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IGI	17242276
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	17242276
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	17242276, 18832177, 21859974
GO:0086015	Process	SA node cell action potential	ISS
GO:0086046	Process	Membrane depolarization during SA node cell action potential	TAS	19098452
GO:0086066	Process	Atrial cardiac muscle cell to AV node cell communication	ISS
GO:0086070	Process	SA node cell to atrial cardiac muscle cell communication	IMP	12571597, 18832177, 21859974
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	12571597, 15178757, 17242276, 21859974
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0098907	Process	Regulation of SA node cell action potential	IMP	12571597, 18832177
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	12571597
GO:0099103	Function	Channel activator activity	ISS	21859974
GO:0099104	Function	Potassium channel activator activity	ISS
GO:0140031	Function	Phosphorylation-dependent protein binding	IPI	25950943
GO:1903288	Process	Positive regulation of potassium ion import across plasma membrane	IMP	19805355
GO:1903288	Process	Positive regulation of potassium ion import across plasma membrane	ISS

Other IDs

• MIM: 106410
• HGNC: 493
• e!Ensembl: ENSG00000145362

Protein

• UniProt ID: Q01484
• Protein name: Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non-erythroid ankyrin)
• Protein function: Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localizatio
• PDB: 4D8O, 4RLV, 4RLY, 5Y4D, 5Y4E, 5Y4F, 5YIR, 5YIS, 6KZJ, 6M3Q, 8ZE8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	96 → 128	Ankyrin repeat	Repeat
  PF12796	Ank_2	125 → 193	Ankyrin repeats (3 copies)	Repeat
  PF00023	Ank	232 → 264	Ankyrin repeat	Repeat
  PF00023	Ank	265 → 297	Ankyrin repeat	Repeat
  PF00023	Ank	298 → 330	Ankyrin repeat	Repeat
  PF00023	Ank	331 → 363	Ankyrin repeat	Repeat
  PF00023	Ank	364 → 395	Ankyrin repeat	Repeat
  PF00023	Ank	397 → 429	Ankyrin repeat	Repeat
  PF00023	Ank	430 → 462	Ankyrin repeat	Repeat
  PF00023	Ank	463 → 494	Ankyrin repeat	Repeat
  PF00023	Ank	496 → 528	Ankyrin repeat	Repeat
  PF00023	Ank	529 → 560	Ankyrin repeat	Repeat
  PF00023	Ank	562 → 591	Ankyrin repeat	Repeat
  PF00023	Ank	595 → 627	Ankyrin repeat	Repeat
  PF00023	Ank	628 → 660	Ankyrin repeat	Repeat
  PF00023	Ank	661 → 693	Ankyrin repeat	Repeat
  PF00023	Ank	727 → 759	Ankyrin repeat	Repeat
  PF00023	Ank	760 → 792	Ankyrin repeat	Repeat
  PF00791	ZU5	969 → 1048	ZU5 domain	Family
  PF00791	ZU5	1044 → 1100	ZU5 domain	Family
  PF17809	UPA_2	1324 → 1454	UPA domain	Domain
  PF00531	Death	3570 → 3653	Death domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina. {ECO:0000269|PubMe
• Sequence:

  MMNEDAAQKSDSGEKFNGSSQRRKRPKKSDSNASFLRAARAGNLDKVVEYLKGGIDINTC
  NQNGLNALHLAAKEGHVGLVQELLGRGSSVDSATKKGNTALHIASLAGQAEVVKVLVKEG
  ANINAQSQNGFTPLYMAAQENHIDVVKYLLENGANQSTATEDGFTPLAVALQQGHNQAVA
  ILLENDTKGKVRLPALHIAARKDDTKSAALLLQNDHNADVQSKMMVNRTTESGFTPLHIA
  AHYGNVNVATLLLNRGAAVDFTARNGITPLHVASKRGNTNMVKLLLDRGGQIDAKTRDGL
  TPLHCAARSGHDQVVELLLERGAPLLARTKNGLSPLHMAAQGDHVECVKHLLQHKAPVDD
  VTLDYLTALHVAAHCGHYRVTKLLLDKRANPNARALNGFTPLHIACKKNRIKVMELLVKY
  GASIQAITESGLTPIHVAAFMGHLNIVLLLLQNGASPDVTNIRGETALHMAARAGQVEVV
  RCLLRNGALVDARAREEQTPLHIASRLGKTEIVQLLLQHMAHPDAATTNGYTPLHISARE
  GQVDVASVLLEAGAAHSLATKKGFTPLHVAAKYGSLDVAKLLLQRRAAADSAGKNGLTPL
  HVAAHYDNQKVALLLLEKGASPHATAKNGYTPLHIAAKKNQMQIASTLLNYGAETNIVTK
  QGVTPLHLASQEGHTDMVTLLLDKGANIHMSTKSGLTSLHLAAQEDKVNVADILTKHGAD
  QDAHTKLGYTPLIVACHYGNVKMVNFLLKQGANVNAKTKNGYTPLHQAAQQGHTHIINVL
  LQHGAKPNATTANGNTALAIAKRLGYISVVDTLKVVTEEVTTTTTTITEKHKLNVPETMT
  EVLDVSDEEGDDTMTGDGGEYLRPEDLKELGDDSLPSSQFLDGMNYLRYSLEGGRSDSLR
  SFSSDRSHTLSHASYLRDSAVMDDSVVIPSHQVSTLAKEAERNSYRLSWGTENLDNVALS
  SSPIHSGFLVSFMVDARGGAMRGCRHNGLRIIIPPRKCTAPTRVTCRLVKRHRLATMPPM
  VEGEGLASRLIEVGPSGAQFLGKLHLPTAPPPLNEGESLVSRILQLGPPGTKFLGPVIVE
  IPHFAALRGKERELVVLRSENGDSWKEHFCDYTEDELNEILNGMDEVLDSPEDLEKKRIC
  RIITRDFPQYFAVVSRIKQDSNLIGPEGGVLSSTVVPQVQAVFPEGALTKRIRVGLQAQP
  MHSELVKKILGNKATFSPIVTLEPRRRKFHKPITMTIPVPKASSDVMLNGFGGDAPTLRL
  LCSITGGTTPAQWEDITGTTPLTFVNECVSFTTNVSARFWLIDCRQIQESVTFASQVYRE
  IICVPYMAKFVVFAKSHDPIEARLRCFCMTDDKVDKTLEQQENFAEVARSRDVEVLEGKP
  IYVDCFGNLVPLTKSGQHHIFSFFAFKENRLPLFVKVRDTTQEPCGRLSFMKEPKSTRGL
  VHQAICNLNITLPIYTKESESDQEQEEEIDMTSEKNDETESTETSVLKSHLVNEVPVLAS
  PDLLSEVSEMKQDLIKMTAILTTDVSDKAGSIKVKELVKAAEEEPGEPFEIVERVKEDLE
  KVNEILRSGTCTRDESSVQSSRSERGLVEEEWVIVSDEEIEEARQKAPLEITEYPCVEVR
  IDKEIKGKVEKDSTGLVNYLTDDLNTCVPLPKEQLQTVQDKAGKKCEALAVGRSSEKEGK
  DIPPDETQSTQKQHKPSLGIKKPVRRKLKEKQKQKEEGLQASAEKAELKKGSSEESLGED
  PGLAPEPLPTVKATSPLIEETPIGSIKDKVKALQKRVEDEQKGRSKLPIRVKGKEDVPKK
  TTHRPHPAASPSLKSERHAPGSPSPKTERHSTLSSSAKTERHPPVSPSSKTEKHSPVSPS
  AKTERHSPASSSSKTEKHSPVSPSTKTERHSPVSSTKTERHPPVSPSGKTDKRPPVSPSG
  RTEKHPPVSPGRTEKRLPVSPSGRTDKHQPVSTAGKTEKHLPVSPSGKTEKQPPVSPTSK
  TERIEETMSVRELMKAFQSGQDPSKHKTGLFEHKSAKQKQPQEKGKVRVEKEKGPILTQR
  EAQKTENQTIKRGQRLPVTGTAESKRGVRVSSIGVKKEDAAGGKEKVLSHKIPEPVQSVP
  EEESHRESEVPKEKMADEQGDMDLQISPDRKTSTDFSEVIKQELEDNDKYQQFRLSEETE
  KAQLHLDQVLTSPFNTTFPLDYMKDEFLPALSLQSGALDGSSESLKNEGVAGSPCGSLME
  GTPQISSEESYKHEGLAETPETSPESLSFSPKKSEEQTGETKESTKTETTTEIRSEKEHP
  TTKDITGGSEERGATVTEDSETSTESFQKEATLGSPKDTSPKRQDDCTGSCSVALAKETP
  TGLTEEAACDEGQRTFGSSAHKTQTDSEVQESTATSDETKALPLPEASVKTDTGTESKPQ
  GVIRSPQGLELALPSRDSEVLSAVADDSLAVSHKDSLEASPVLEDNSSHKTPDSLEPSPL
  KESPCRDSLESSPVEPKMKAGIFPSHFPLPAAVAKTELLTEVASVRSRLLRDPDGSAEDD
  SLEQTSLMESSGKSPLSPDTPSSEEVSYEVTPKTTDVSTPKPAVIHECAEEDDSENGEKK
  RFTPEEEMFKMVTKIKMFDELEQEAKQKRDYKKEPKQEESSSSSDPDADCSVDVDEPKHT
  GSGEDESGVPVLVTSESRKVSSSSESEPELAQLKKGADSGLLPEPVIRVQPPSPLPSSMD
  SNSSPEEVQFQPVVSKQYTFKMNEDTQEEPGKSEEEKDSESHLAEDRHAVSTEAEDRSYD
  KLNRDTDQPKICDGHGCEAMSPSSSAAPVSSGLQSPTGDDVDEQPVIYKESLALQGTHEK
  DTEGEELDVSRAESPQADCPSESFSSSSSLPHCLVSEGKELDEDISATSSIQKTEVTKTD
  ETFENLPKDCPSQDSSITTQTDRFSMDVPVSDLAENDEIYDPQITSPYENVPSQSFFSSE
  ESKTQTDANHTTSFHSSEVYSVTITSPVEDVVVASSSSGTVLSKESNFEGQDIKMESQQE
  STLWEMQSDSVSSSFEPTMSATTTVVGEQISKVIITKTDVDSDSWSEIREDDEAFEARVK
  EEEQKIFGLMVDRQSQGTTPDTTPARTPTEEGTPTSEQNPFLFQEGKLFEMTRSGAIDMT
  KRSYADESFHFFQIGQESREETLSEDVKEGATGADPLPLETSAESLALSESKETVDDEAD
  LLPDDVSEEVEEIPASDAQLNSQMGISASTETPTKEAVSVGTKDLPTVQTGDIPPLSGVK
  QISCPDSSEPAVQVQLDFSTLTRSVYSDRGDDSPDSSPEEQKSVIEIPTAPMENVPFTES
  KSKIPVRTMPTSTPAPPSAEYESSVSEDFLSSVDEENKADEAKPKSKLPVKVPLQRVEQQ
  LSDLDTSVQKTVAPQGQDMASIAPDNRSKSESDASSLDSKTKCPVKTRSYTETETESRER
  AEELELESEEGATRPKILTSRLPVKSRSTTSSCRGGTSPTKESKEHFFDLYRNSIEFFEE
  ISDEASKLVDRLTQSEREQEIVSDDESSSALEVSVIENLPPVETEHSVPEDIFDTRPIWD
  ESIETLIERIPDENGHDHAEDPQDEQERIEERLAYIADHLGFSWTELARELDFTEEQIHQ
  IRIENPNSLQDQSHALLKYWLERDGKHATDTNLVECLTKINRMDIVHLMETNTEPLQERI
  SHSYAEIEQTITLDHSEGFSVLQEELCTAQHKQKEEQAVSKESETCDHPPIVSEEDISVG
  YSTFQDGVPKTEGDSSATALFPQTHKEQVQQDFSGKMQDLPEESSLEYQQEYFVTTPGTE
  TSETQKAMIVPSSPSKTPEEVSTPAEEEKLYLQTPTSSERGGSPIIQEPEEPSEHREESS
  PRKTSLVIVESADNQPETCERLDEDAAFEKGDDMPEIPPETVTEEEYIDEHGHTVVKKVT
  RKIIRRYVSSEGTEKEEIMVQGMPQEPVNIEEGDGYSKVIKRVVLKSDTEQSEDNNE

• Sequence length: 3957

Pathways

KEGG:

Cytoskeleton in muscle cells
Proteoglycans in cancer

Reactome:

Interaction between L1 and Ankyrins
COPI-mediated anterograde transport

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
ANK2-associated Neurodevelopmental Disorder	Pathogenic	rs2153942439, rs2506612939	RCV003322720 RCV003992137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANK2-related disorder	Likely pathogenic	rs1162799877, rs2505509206	RCV003405828 RCV003893965	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs2505933210	RCV003128046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada syndrome	Likely pathogenic	rs1049367287	RCV005627845	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrhythmia, ankyrin-B-related	Pathogenic; Likely pathogenic	rs2153942439, rs2092061253, rs768327292	RCV004763651 RCV002290673 RCV003994249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2502650416, rs2154066387, rs1298807209, rs2497089116, rs2508495239, rs2505926865, rs1588354762, rs768327292	RCV002445765 RCV004093450 RCV005655245 RCV004318778 RCV003301816 RCV004410432 RCV003160150 RCV002327614	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complex neurodevelopmental disorder	Likely pathogenic	rs2504036153	RCV003458996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Pathogenic; Likely pathogenic	rs2154031263, rs755287627, rs796052197, rs796052198, rs2505994536, rs763130672, rs2484401756, rs2505931124, rs1398611672, rs1564067737, rs2095919119	RCV002003149 RCV000190219 RCV000190220 RCV000190221 RCV002880823 RCV003033731 RCV003049348 RCV003648596 RCV003882549 RCV000691516 RCV001227047	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acromesomelic dysplasia 2B	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANK2-associated Complex Neurodevelopmental Disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANK2-related Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ 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	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Channelopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ANOMALY OF CARDIOVASCULAR SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Death in infancy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy and peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 2	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 4	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligosynaptic infertility	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac arrest	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supraventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de pointes	Uncertain significance; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	16818210		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27784853, 27916589, 32233023, 35224819	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	37658721	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	21859974, 22778271, 28086167, 29658562		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	27916589, 31539150	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31285321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31285321		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	27784853	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	15310273		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24882193	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	26230511	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	15579534, 17242276, 26230511, 27784853		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28334977	Associate	★☆☆☆☆ Found in Text Mining only
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	Cardiac arrhythmia	UNIPROT_DG	12571597, 15178757, 17940615		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	Cardiac arrhythmia	CLINVAR_DG	12571597, 16864073, 27784853, 28736713		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	Cardiac arrhythmia	GENOMICS_ENGLAND_DG	12571597, 16301704, 27818464		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	Cardiac arrhythmia	BEFREE	16800854, 17242276, 19394342, 27916589, 28765088		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	Cardiac arrhythmia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathies	Cardiomyopathy	Pubtator	32233023, 37658721	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28750076	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	27916589	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22778271, 28765088		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22778271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26168218		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19597845		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33441621, 37195288	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	18790697		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	18790697		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22778271		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32764209	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37195288	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	24454846		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	16253912, 17242276, 18052691, 19394342, 28003625, 30929919		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	LHGDN	16864073		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	19029296, 20809527, 27135274, 28003625	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long Qt Syndrome 4	Long QT Syndrome	BEFREE	30929919		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 4	Long QT Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26168218		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19394342		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24462599, 7805894		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	7805894	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29133412		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	27692602		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31277379		★☆☆☆☆ Found in Text Mining only
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	BEFREE	31277379		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27784853	Associate	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	34557911	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	12571597, 17242276, 19862833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	27916589, 35224819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	18832177, 22778271, 27916589		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25863124	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	29078305		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	30571258		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	LHGDN	17161064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de Pointes	BEFREE	25456501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de Pointes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37247272	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	19394342		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	27784853, 35224819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	15840485, 28765088		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only