CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2)

Gene

• Entrez ID: 1952
• Gene name: Cadherin EGF LAG seven-pass G-type receptor 2
• Gene symbol: CELSR2
• Synonyms (NCBI Gene): ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are locate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs561330579	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773722162	->AGAAGAGGAGGA	Likely-pathogenic	Inframe insertion, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037380	hsa-miR-744-3p	CLASH	23622248
MIRT659613	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT659612	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT659611	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT659610	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT659609	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT659608	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT570729	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570727	hsa-miR-4784	PAR-CLIP	20371350
MIRT570728	hsa-miR-6134	PAR-CLIP	20371350
MIRT570726	hsa-miR-765	PAR-CLIP	20371350
MIRT570725	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570724	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT570723	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT570722	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570721	hsa-miR-92a-2-5p	PAR-CLIP	20371350
MIRT570720	hsa-miR-491-5p	PAR-CLIP	20371350
MIRT570719	hsa-miR-4689	PAR-CLIP	20371350
MIRT570718	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT570717	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT570716	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT736854	hsa-miR-31-5p	Immunoprecipitaion (IP), RNA-seq, Flow cytometry	34236760
MIRT659613	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT659612	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT659611	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT659610	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT659609	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT659608	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT570729	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570727	hsa-miR-4784	PAR-CLIP	20371350
MIRT570728	hsa-miR-6134	PAR-CLIP	20371350
MIRT570726	hsa-miR-765	PAR-CLIP	20371350
MIRT570725	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570724	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT570723	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT570722	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570721	hsa-miR-92a-2-5p	PAR-CLIP	20371350
MIRT570720	hsa-miR-491-5p	PAR-CLIP	20371350
MIRT570719	hsa-miR-4689	PAR-CLIP	20371350
MIRT570718	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT570717	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT570716	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT884301	hsa-miR-103a	CLIP-seq
MIRT884302	hsa-miR-106a	CLIP-seq
MIRT884303	hsa-miR-106b	CLIP-seq
MIRT884304	hsa-miR-107	CLIP-seq
MIRT884305	hsa-miR-1179	CLIP-seq
MIRT884306	hsa-miR-1206	CLIP-seq
MIRT884307	hsa-miR-1231	CLIP-seq
MIRT884308	hsa-miR-1236	CLIP-seq
MIRT884309	hsa-miR-1245b-3p	CLIP-seq
MIRT884310	hsa-miR-1252	CLIP-seq
MIRT884311	hsa-miR-1253	CLIP-seq
MIRT884312	hsa-miR-1262	CLIP-seq
MIRT884313	hsa-miR-1270	CLIP-seq
MIRT884314	hsa-miR-1275	CLIP-seq
MIRT884315	hsa-miR-1286	CLIP-seq
MIRT884316	hsa-miR-1289	CLIP-seq
MIRT884317	hsa-miR-1299	CLIP-seq
MIRT884318	hsa-miR-1323	CLIP-seq
MIRT884319	hsa-miR-143	CLIP-seq
MIRT884320	hsa-miR-1587	CLIP-seq
MIRT884321	hsa-miR-17	CLIP-seq
MIRT884322	hsa-miR-1911	CLIP-seq
MIRT884323	hsa-miR-1915	CLIP-seq
MIRT884324	hsa-miR-199a-3p	CLIP-seq
MIRT884325	hsa-miR-199b-3p	CLIP-seq
MIRT884326	hsa-miR-20a	CLIP-seq
MIRT884327	hsa-miR-20b	CLIP-seq
MIRT884328	hsa-miR-214	CLIP-seq
MIRT884329	hsa-miR-27a	CLIP-seq
MIRT884330	hsa-miR-27b	CLIP-seq
MIRT884331	hsa-miR-28-3p	CLIP-seq
MIRT884332	hsa-miR-2964a-3p	CLIP-seq
MIRT884333	hsa-miR-302f	CLIP-seq
MIRT884334	hsa-miR-3065-5p	CLIP-seq
MIRT884335	hsa-miR-3074-5p	CLIP-seq
MIRT884336	hsa-miR-3120-3p	CLIP-seq
MIRT884337	hsa-miR-3121-3p	CLIP-seq
MIRT884338	hsa-miR-3121-5p	CLIP-seq
MIRT884339	hsa-miR-3124-3p	CLIP-seq
MIRT884340	hsa-miR-3129-5p	CLIP-seq
MIRT884341	hsa-miR-3149	CLIP-seq
MIRT884342	hsa-miR-3153	CLIP-seq
MIRT884343	hsa-miR-3154	CLIP-seq
MIRT884344	hsa-miR-3155	CLIP-seq
MIRT884345	hsa-miR-3155b	CLIP-seq
MIRT884346	hsa-miR-3175	CLIP-seq
MIRT884347	hsa-miR-3176	CLIP-seq
MIRT884348	hsa-miR-3177-3p	CLIP-seq
MIRT884349	hsa-miR-3179	CLIP-seq
MIRT884350	hsa-miR-3184	CLIP-seq
MIRT884351	hsa-miR-3198	CLIP-seq
MIRT884352	hsa-miR-3202	CLIP-seq
MIRT884353	hsa-miR-328	CLIP-seq
MIRT884354	hsa-miR-331-3p	CLIP-seq
MIRT884355	hsa-miR-338-3p	CLIP-seq
MIRT884356	hsa-miR-342-5p	CLIP-seq
MIRT884357	hsa-miR-361-3p	CLIP-seq
MIRT884358	hsa-miR-3619-5p	CLIP-seq
MIRT884359	hsa-miR-3646	CLIP-seq
MIRT884360	hsa-miR-3647-3p	CLIP-seq
MIRT884361	hsa-miR-3648	CLIP-seq
MIRT884362	hsa-miR-3662	CLIP-seq
MIRT884363	hsa-miR-3675-5p	CLIP-seq
MIRT884364	hsa-miR-378g	CLIP-seq
MIRT884365	hsa-miR-3920	CLIP-seq
MIRT884366	hsa-miR-3922-3p	CLIP-seq
MIRT884367	hsa-miR-3936	CLIP-seq
MIRT884368	hsa-miR-3944-5p	CLIP-seq
MIRT884369	hsa-miR-3973	CLIP-seq
MIRT884370	hsa-miR-412	CLIP-seq
MIRT884371	hsa-miR-423-5p	CLIP-seq
MIRT884372	hsa-miR-4253	CLIP-seq
MIRT884373	hsa-miR-4257	CLIP-seq
MIRT884374	hsa-miR-4260	CLIP-seq
MIRT884375	hsa-miR-4270	CLIP-seq
MIRT884376	hsa-miR-4271	CLIP-seq
MIRT884377	hsa-miR-4274	CLIP-seq
MIRT884378	hsa-miR-4276	CLIP-seq
MIRT884379	hsa-miR-4279	CLIP-seq
MIRT884380	hsa-miR-4283	CLIP-seq
MIRT884381	hsa-miR-4288	CLIP-seq
MIRT884382	hsa-miR-4293	CLIP-seq
MIRT884383	hsa-miR-4294	CLIP-seq
MIRT884384	hsa-miR-4300	CLIP-seq
MIRT884385	hsa-miR-4309	CLIP-seq
MIRT884386	hsa-miR-431	CLIP-seq
MIRT884387	hsa-miR-4310	CLIP-seq
MIRT884388	hsa-miR-432	CLIP-seq
MIRT884389	hsa-miR-4330	CLIP-seq
MIRT884390	hsa-miR-4428	CLIP-seq
MIRT884391	hsa-miR-4434	CLIP-seq
MIRT884392	hsa-miR-4438	CLIP-seq
MIRT884393	hsa-miR-4441	CLIP-seq
MIRT884394	hsa-miR-4447	CLIP-seq
MIRT884395	hsa-miR-4455	CLIP-seq
MIRT884396	hsa-miR-4472	CLIP-seq
MIRT884397	hsa-miR-4481	CLIP-seq
MIRT884398	hsa-miR-4487	CLIP-seq
MIRT884399	hsa-miR-4488	CLIP-seq
MIRT884400	hsa-miR-4489	CLIP-seq
MIRT884401	hsa-miR-4492	CLIP-seq
MIRT884402	hsa-miR-4498	CLIP-seq
MIRT884403	hsa-miR-4502	CLIP-seq
MIRT884404	hsa-miR-4504	CLIP-seq
MIRT884405	hsa-miR-4505	CLIP-seq
MIRT884406	hsa-miR-4516	CLIP-seq
MIRT884407	hsa-miR-4530	CLIP-seq
MIRT884408	hsa-miR-4531	CLIP-seq
MIRT884409	hsa-miR-4646-5p	CLIP-seq
MIRT884410	hsa-miR-4651	CLIP-seq
MIRT884411	hsa-miR-4656	CLIP-seq
MIRT884412	hsa-miR-4663	CLIP-seq
MIRT884413	hsa-miR-4664-5p	CLIP-seq
MIRT884414	hsa-miR-4665-5p	CLIP-seq
MIRT884415	hsa-miR-4668-5p	CLIP-seq
MIRT884416	hsa-miR-4675	CLIP-seq
MIRT884417	hsa-miR-4683	CLIP-seq
MIRT884418	hsa-miR-4685-5p	CLIP-seq
MIRT884419	hsa-miR-4691-5p	CLIP-seq
MIRT884420	hsa-miR-4694-3p	CLIP-seq
MIRT884421	hsa-miR-4697-3p	CLIP-seq
MIRT884422	hsa-miR-4697-5p	CLIP-seq
MIRT884423	hsa-miR-4699-3p	CLIP-seq
MIRT884424	hsa-miR-4701-3p	CLIP-seq
MIRT884425	hsa-miR-4717-5p	CLIP-seq
MIRT884426	hsa-miR-4718	CLIP-seq
MIRT884427	hsa-miR-4719	CLIP-seq
MIRT884428	hsa-miR-4722-3p	CLIP-seq
MIRT884429	hsa-miR-4722-5p	CLIP-seq
MIRT884430	hsa-miR-4723-5p	CLIP-seq
MIRT884431	hsa-miR-4725-3p	CLIP-seq
MIRT884432	hsa-miR-4731-5p	CLIP-seq
MIRT884433	hsa-miR-4738-3p	CLIP-seq
MIRT884434	hsa-miR-4741	CLIP-seq
MIRT884435	hsa-miR-4745-5p	CLIP-seq
MIRT884436	hsa-miR-4747-5p	CLIP-seq
MIRT884437	hsa-miR-4757-5p	CLIP-seq
MIRT884438	hsa-miR-4758-5p	CLIP-seq
MIRT884439	hsa-miR-4762-3p	CLIP-seq
MIRT884440	hsa-miR-4764-3p	CLIP-seq
MIRT884441	hsa-miR-4766-5p	CLIP-seq
MIRT884442	hsa-miR-4770	CLIP-seq
MIRT884443	hsa-miR-4773	CLIP-seq
MIRT884444	hsa-miR-4781-3p	CLIP-seq
MIRT884445	hsa-miR-4785	CLIP-seq
MIRT884446	hsa-miR-4790-3p	CLIP-seq
MIRT884447	hsa-miR-483-5p	CLIP-seq
MIRT884448	hsa-miR-484	CLIP-seq
MIRT884449	hsa-miR-485-5p	CLIP-seq
MIRT884450	hsa-miR-486-3p	CLIP-seq
MIRT884451	hsa-miR-499-3p	CLIP-seq
MIRT884452	hsa-miR-499a-3p	CLIP-seq
MIRT884453	hsa-miR-511	CLIP-seq
MIRT884454	hsa-miR-513a-3p	CLIP-seq
MIRT884455	hsa-miR-513a-5p	CLIP-seq
MIRT884456	hsa-miR-519a	CLIP-seq
MIRT884457	hsa-miR-519b-3p	CLIP-seq
MIRT884458	hsa-miR-519c-3p	CLIP-seq
MIRT884459	hsa-miR-519d	CLIP-seq
MIRT884460	hsa-miR-520g	CLIP-seq
MIRT884461	hsa-miR-520h	CLIP-seq
MIRT884462	hsa-miR-522	CLIP-seq
MIRT884463	hsa-miR-541	CLIP-seq
MIRT884464	hsa-miR-542-5p	CLIP-seq
MIRT884465	hsa-miR-545	CLIP-seq
MIRT884466	hsa-miR-548a-3p	CLIP-seq
MIRT884467	hsa-miR-548aa	CLIP-seq
MIRT884468	hsa-miR-548ac	CLIP-seq
MIRT884469	hsa-miR-548ae	CLIP-seq
MIRT884470	hsa-miR-548aj	CLIP-seq
MIRT884471	hsa-miR-548am	CLIP-seq
MIRT884472	hsa-miR-548c-3p	CLIP-seq
MIRT884473	hsa-miR-548d-3p	CLIP-seq
MIRT884474	hsa-miR-548e	CLIP-seq
MIRT884475	hsa-miR-548f	CLIP-seq
MIRT884476	hsa-miR-548g	CLIP-seq
MIRT884477	hsa-miR-548o	CLIP-seq
MIRT884478	hsa-miR-548x	CLIP-seq
MIRT884479	hsa-miR-548z	CLIP-seq
MIRT884480	hsa-miR-562	CLIP-seq
MIRT884481	hsa-miR-571	CLIP-seq
MIRT884482	hsa-miR-583	CLIP-seq
MIRT884483	hsa-miR-608	CLIP-seq
MIRT884484	hsa-miR-615-3p	CLIP-seq
MIRT884485	hsa-miR-615-5p	CLIP-seq
MIRT884486	hsa-miR-618	CLIP-seq
MIRT884487	hsa-miR-620	CLIP-seq
MIRT884488	hsa-miR-628-5p	CLIP-seq
MIRT884489	hsa-miR-632	CLIP-seq
MIRT884490	hsa-miR-637	CLIP-seq
MIRT884491	hsa-miR-654-5p	CLIP-seq
MIRT884492	hsa-miR-656	CLIP-seq
MIRT884493	hsa-miR-657	CLIP-seq
MIRT884494	hsa-miR-661	CLIP-seq
MIRT884495	hsa-miR-665	CLIP-seq
MIRT884496	hsa-miR-761	CLIP-seq
MIRT884497	hsa-miR-762	CLIP-seq
MIRT884498	hsa-miR-875-3p	CLIP-seq
MIRT884499	hsa-miR-892a	CLIP-seq
MIRT884500	hsa-miR-920	CLIP-seq
MIRT884501	hsa-miR-922	CLIP-seq
MIRT884502	hsa-miR-93	CLIP-seq
MIRT884503	hsa-miR-936	CLIP-seq
MIRT884504	hsa-miR-939	CLIP-seq
MIRT884342	hsa-miR-3153	CLIP-seq
MIRT884301	hsa-miR-103a	CLIP-seq
MIRT884302	hsa-miR-106a	CLIP-seq
MIRT884303	hsa-miR-106b	CLIP-seq
MIRT884304	hsa-miR-107	CLIP-seq
MIRT884305	hsa-miR-1179	CLIP-seq
MIRT884306	hsa-miR-1206	CLIP-seq
MIRT884307	hsa-miR-1231	CLIP-seq
MIRT884308	hsa-miR-1236	CLIP-seq
MIRT1962242	hsa-miR-1237	CLIP-seq
MIRT884309	hsa-miR-1245b-3p	CLIP-seq
MIRT1962243	hsa-miR-1248	CLIP-seq
MIRT884310	hsa-miR-1252	CLIP-seq
MIRT884311	hsa-miR-1253	CLIP-seq
MIRT1962244	hsa-miR-125a-5p	CLIP-seq
MIRT1962245	hsa-miR-125b	CLIP-seq
MIRT884312	hsa-miR-1262	CLIP-seq
MIRT1962246	hsa-miR-1266	CLIP-seq
MIRT1962247	hsa-miR-1271	CLIP-seq
MIRT1962248	hsa-miR-1273e	CLIP-seq
MIRT884314	hsa-miR-1275	CLIP-seq
MIRT884315	hsa-miR-1286	CLIP-seq
MIRT884316	hsa-miR-1289	CLIP-seq
MIRT884317	hsa-miR-1299	CLIP-seq
MIRT884318	hsa-miR-1323	CLIP-seq
MIRT1962249	hsa-miR-1343	CLIP-seq
MIRT884319	hsa-miR-143	CLIP-seq
MIRT1962250	hsa-miR-145	CLIP-seq
MIRT884320	hsa-miR-1587	CLIP-seq
MIRT884321	hsa-miR-17	CLIP-seq
MIRT1962251	hsa-miR-1827	CLIP-seq
MIRT884322	hsa-miR-1911	CLIP-seq
MIRT1962252	hsa-miR-1912	CLIP-seq
MIRT1962253	hsa-miR-1913	CLIP-seq
MIRT1962254	hsa-miR-1914	CLIP-seq
MIRT884323	hsa-miR-1915	CLIP-seq
MIRT1962255	hsa-miR-193a-3p	CLIP-seq
MIRT1962256	hsa-miR-193b	CLIP-seq
MIRT884324	hsa-miR-199a-3p	CLIP-seq
MIRT884325	hsa-miR-199b-3p	CLIP-seq
MIRT884326	hsa-miR-20a	CLIP-seq
MIRT884327	hsa-miR-20b	CLIP-seq
MIRT1962257	hsa-miR-2114	CLIP-seq
MIRT884328	hsa-miR-214	CLIP-seq
MIRT1962258	hsa-miR-218	CLIP-seq
MIRT1962259	hsa-miR-2682	CLIP-seq
MIRT884329	hsa-miR-27a	CLIP-seq
MIRT884330	hsa-miR-27b	CLIP-seq
MIRT884331	hsa-miR-28-3p	CLIP-seq
MIRT884332	hsa-miR-2964a-3p	CLIP-seq
MIRT884333	hsa-miR-302f	CLIP-seq
MIRT1962260	hsa-miR-3064-5p	CLIP-seq
MIRT884334	hsa-miR-3065-5p	CLIP-seq
MIRT1962261	hsa-miR-3119	CLIP-seq
MIRT884336	hsa-miR-3120-3p	CLIP-seq
MIRT884337	hsa-miR-3121-3p	CLIP-seq
MIRT884338	hsa-miR-3121-5p	CLIP-seq
MIRT1962262	hsa-miR-3122	CLIP-seq
MIRT884339	hsa-miR-3124-3p	CLIP-seq
MIRT1962263	hsa-miR-3127-5p	CLIP-seq
MIRT884340	hsa-miR-3129-5p	CLIP-seq
MIRT1962264	hsa-miR-3138	CLIP-seq
MIRT884341	hsa-miR-3149	CLIP-seq
MIRT884342	hsa-miR-3153	CLIP-seq
MIRT884344	hsa-miR-3155	CLIP-seq
MIRT884345	hsa-miR-3155b	CLIP-seq
MIRT1962265	hsa-miR-3158-3p	CLIP-seq
MIRT1962266	hsa-miR-3163	CLIP-seq
MIRT884346	hsa-miR-3175	CLIP-seq
MIRT884347	hsa-miR-3176	CLIP-seq
MIRT884348	hsa-miR-3177-3p	CLIP-seq
MIRT1962267	hsa-miR-3180-5p	CLIP-seq
MIRT884350	hsa-miR-3184	CLIP-seq
MIRT1962268	hsa-miR-3192	CLIP-seq
MIRT884351	hsa-miR-3198	CLIP-seq
MIRT884352	hsa-miR-3202	CLIP-seq
MIRT1962269	hsa-miR-324-3p	CLIP-seq
MIRT884353	hsa-miR-328	CLIP-seq
MIRT884354	hsa-miR-331-3p	CLIP-seq
MIRT884355	hsa-miR-338-3p	CLIP-seq
MIRT884356	hsa-miR-342-5p	CLIP-seq
MIRT1962270	hsa-miR-34a	CLIP-seq
MIRT1962271	hsa-miR-34c-5p	CLIP-seq
MIRT1962272	hsa-miR-3611	CLIP-seq
MIRT884357	hsa-miR-361-3p	CLIP-seq
MIRT884358	hsa-miR-3619-5p	CLIP-seq
MIRT884359	hsa-miR-3646	CLIP-seq
MIRT884360	hsa-miR-3647-3p	CLIP-seq
MIRT884361	hsa-miR-3648	CLIP-seq
MIRT884362	hsa-miR-3662	CLIP-seq
MIRT1962273	hsa-miR-3663-3p	CLIP-seq
MIRT884363	hsa-miR-3675-5p	CLIP-seq
MIRT1962274	hsa-miR-3687	CLIP-seq
MIRT1962275	hsa-miR-3689a-3p	CLIP-seq
MIRT1962276	hsa-miR-3689c	CLIP-seq
MIRT884364	hsa-miR-378g	CLIP-seq
MIRT1962277	hsa-miR-3913-5p	CLIP-seq
MIRT1962278	hsa-miR-3918	CLIP-seq
MIRT884366	hsa-miR-3922-3p	CLIP-seq
MIRT884369	hsa-miR-3973	CLIP-seq
MIRT884370	hsa-miR-412	CLIP-seq
MIRT884371	hsa-miR-423-5p	CLIP-seq
MIRT884372	hsa-miR-4253	CLIP-seq
MIRT884373	hsa-miR-4257	CLIP-seq
MIRT884374	hsa-miR-4260	CLIP-seq
MIRT1962279	hsa-miR-4268	CLIP-seq
MIRT884375	hsa-miR-4270	CLIP-seq
MIRT884376	hsa-miR-4271	CLIP-seq
MIRT884378	hsa-miR-4276	CLIP-seq
MIRT884379	hsa-miR-4279	CLIP-seq
MIRT884380	hsa-miR-4283	CLIP-seq
MIRT884381	hsa-miR-4288	CLIP-seq
MIRT884383	hsa-miR-4294	CLIP-seq
MIRT884384	hsa-miR-4300	CLIP-seq
MIRT884385	hsa-miR-4309	CLIP-seq
MIRT884387	hsa-miR-4310	CLIP-seq
MIRT1962280	hsa-miR-4313	CLIP-seq
MIRT1962281	hsa-miR-4319	CLIP-seq
MIRT884388	hsa-miR-432	CLIP-seq
MIRT884389	hsa-miR-4330	CLIP-seq
MIRT884390	hsa-miR-4428	CLIP-seq
MIRT1962282	hsa-miR-4433	CLIP-seq
MIRT884391	hsa-miR-4434	CLIP-seq
MIRT1962283	hsa-miR-4436b-3p	CLIP-seq
MIRT884392	hsa-miR-4438	CLIP-seq
MIRT884393	hsa-miR-4441	CLIP-seq
MIRT1962284	hsa-miR-4442	CLIP-seq
MIRT884394	hsa-miR-4447	CLIP-seq
MIRT884396	hsa-miR-4472	CLIP-seq
MIRT1962285	hsa-miR-4474-3p	CLIP-seq
MIRT884397	hsa-miR-4481	CLIP-seq
MIRT884398	hsa-miR-4487	CLIP-seq
MIRT884399	hsa-miR-4488	CLIP-seq
MIRT884400	hsa-miR-4489	CLIP-seq
MIRT884401	hsa-miR-4492	CLIP-seq
MIRT884402	hsa-miR-4498	CLIP-seq
MIRT1962286	hsa-miR-449a	CLIP-seq
MIRT1962287	hsa-miR-449b	CLIP-seq
MIRT1962288	hsa-miR-449c	CLIP-seq
MIRT884403	hsa-miR-4502	CLIP-seq
MIRT884404	hsa-miR-4504	CLIP-seq
MIRT884405	hsa-miR-4505	CLIP-seq
MIRT884406	hsa-miR-4516	CLIP-seq
MIRT1962289	hsa-miR-4518	CLIP-seq
MIRT1962290	hsa-miR-4520a-5p	CLIP-seq
MIRT1962291	hsa-miR-4520b-5p	CLIP-seq
MIRT884407	hsa-miR-4530	CLIP-seq
MIRT1962292	hsa-miR-4643	CLIP-seq
MIRT884409	hsa-miR-4646-5p	CLIP-seq
MIRT884410	hsa-miR-4651	CLIP-seq
MIRT884411	hsa-miR-4656	CLIP-seq
MIRT884412	hsa-miR-4663	CLIP-seq
MIRT884413	hsa-miR-4664-5p	CLIP-seq
MIRT884414	hsa-miR-4665-5p	CLIP-seq
MIRT884415	hsa-miR-4668-5p	CLIP-seq
MIRT884416	hsa-miR-4675	CLIP-seq
MIRT884418	hsa-miR-4685-5p	CLIP-seq
MIRT1962293	hsa-miR-4688	CLIP-seq
MIRT884419	hsa-miR-4691-5p	CLIP-seq
MIRT884420	hsa-miR-4694-3p	CLIP-seq
MIRT884421	hsa-miR-4697-3p	CLIP-seq
MIRT884422	hsa-miR-4697-5p	CLIP-seq
MIRT884423	hsa-miR-4699-3p	CLIP-seq
MIRT884424	hsa-miR-4701-3p	CLIP-seq
MIRT1962294	hsa-miR-4709-3p	CLIP-seq
MIRT1962295	hsa-miR-4715-5p	CLIP-seq
MIRT884425	hsa-miR-4717-5p	CLIP-seq
MIRT884429	hsa-miR-4722-5p	CLIP-seq
MIRT884430	hsa-miR-4723-5p	CLIP-seq
MIRT884431	hsa-miR-4725-3p	CLIP-seq
MIRT1962296	hsa-miR-4727-5p	CLIP-seq
MIRT1962297	hsa-miR-4728-5p	CLIP-seq
MIRT884432	hsa-miR-4731-5p	CLIP-seq
MIRT1962298	hsa-miR-4732-3p	CLIP-seq
MIRT884433	hsa-miR-4738-3p	CLIP-seq
MIRT1962299	hsa-miR-4738-5p	CLIP-seq
MIRT884434	hsa-miR-4741	CLIP-seq
MIRT884435	hsa-miR-4745-5p	CLIP-seq
MIRT884436	hsa-miR-4747-5p	CLIP-seq
MIRT884438	hsa-miR-4758-5p	CLIP-seq
MIRT884440	hsa-miR-4764-3p	CLIP-seq
MIRT884442	hsa-miR-4770	CLIP-seq
MIRT884443	hsa-miR-4773	CLIP-seq
MIRT884444	hsa-miR-4781-3p	CLIP-seq
MIRT1962300	hsa-miR-4781-5p	CLIP-seq
MIRT1962301	hsa-miR-4786-3p	CLIP-seq
MIRT884446	hsa-miR-4790-3p	CLIP-seq
MIRT1962302	hsa-miR-4793-5p	CLIP-seq
MIRT884447	hsa-miR-483-5p	CLIP-seq
MIRT884448	hsa-miR-484	CLIP-seq
MIRT884449	hsa-miR-485-5p	CLIP-seq
MIRT884450	hsa-miR-486-3p	CLIP-seq
MIRT884451	hsa-miR-499-3p	CLIP-seq
MIRT884452	hsa-miR-499a-3p	CLIP-seq
MIRT1962303	hsa-miR-499a-5p	CLIP-seq
MIRT884454	hsa-miR-513a-3p	CLIP-seq
MIRT884455	hsa-miR-513a-5p	CLIP-seq
MIRT884456	hsa-miR-519a	CLIP-seq
MIRT884457	hsa-miR-519b-3p	CLIP-seq
MIRT884458	hsa-miR-519c-3p	CLIP-seq
MIRT884459	hsa-miR-519d	CLIP-seq
MIRT884460	hsa-miR-520g	CLIP-seq
MIRT884461	hsa-miR-520h	CLIP-seq
MIRT884462	hsa-miR-522	CLIP-seq
MIRT884463	hsa-miR-541	CLIP-seq
MIRT884465	hsa-miR-545	CLIP-seq
MIRT884466	hsa-miR-548a-3p	CLIP-seq
MIRT884467	hsa-miR-548aa	CLIP-seq
MIRT884468	hsa-miR-548ac	CLIP-seq
MIRT884469	hsa-miR-548ae	CLIP-seq
MIRT884470	hsa-miR-548aj	CLIP-seq
MIRT884471	hsa-miR-548am	CLIP-seq
MIRT884472	hsa-miR-548c-3p	CLIP-seq
MIRT884473	hsa-miR-548d-3p	CLIP-seq
MIRT884474	hsa-miR-548e	CLIP-seq
MIRT884475	hsa-miR-548f	CLIP-seq
MIRT884476	hsa-miR-548g	CLIP-seq
MIRT884477	hsa-miR-548o	CLIP-seq
MIRT884478	hsa-miR-548x	CLIP-seq
MIRT884479	hsa-miR-548z	CLIP-seq
MIRT884480	hsa-miR-562	CLIP-seq
MIRT884481	hsa-miR-571	CLIP-seq
MIRT1962304	hsa-miR-604	CLIP-seq
MIRT884483	hsa-miR-608	CLIP-seq
MIRT884484	hsa-miR-615-3p	CLIP-seq
MIRT884485	hsa-miR-615-5p	CLIP-seq
MIRT884486	hsa-miR-618	CLIP-seq
MIRT884488	hsa-miR-628-5p	CLIP-seq
MIRT884489	hsa-miR-632	CLIP-seq
MIRT1962305	hsa-miR-636	CLIP-seq
MIRT884490	hsa-miR-637	CLIP-seq
MIRT1962306	hsa-miR-642a	CLIP-seq
MIRT1962307	hsa-miR-644	CLIP-seq
MIRT1962308	hsa-miR-647	CLIP-seq
MIRT1962309	hsa-miR-649	CLIP-seq
MIRT884491	hsa-miR-654-5p	CLIP-seq
MIRT884492	hsa-miR-656	CLIP-seq
MIRT884493	hsa-miR-657	CLIP-seq
MIRT884494	hsa-miR-661	CLIP-seq
MIRT884495	hsa-miR-665	CLIP-seq
MIRT1962310	hsa-miR-670	CLIP-seq
MIRT1962311	hsa-miR-744	CLIP-seq
MIRT884496	hsa-miR-761	CLIP-seq
MIRT884497	hsa-miR-762	CLIP-seq
MIRT884498	hsa-miR-875-3p	CLIP-seq
MIRT1962312	hsa-miR-891b	CLIP-seq
MIRT884499	hsa-miR-892a	CLIP-seq
MIRT1962313	hsa-miR-9	CLIP-seq
MIRT884500	hsa-miR-920	CLIP-seq
MIRT884501	hsa-miR-922	CLIP-seq
MIRT884502	hsa-miR-93	CLIP-seq
MIRT884503	hsa-miR-936	CLIP-seq
MIRT884504	hsa-miR-939	CLIP-seq
MIRT1962314	hsa-miR-96	CLIP-seq
MIRT884309	hsa-miR-1245b-3p	CLIP-seq
MIRT2198735	hsa-miR-1273d	CLIP-seq
MIRT884318	hsa-miR-1323	CLIP-seq
MIRT1962249	hsa-miR-1343	CLIP-seq
MIRT884319	hsa-miR-143	CLIP-seq
MIRT1962250	hsa-miR-145	CLIP-seq
MIRT1962251	hsa-miR-1827	CLIP-seq
MIRT884324	hsa-miR-199a-3p	CLIP-seq
MIRT884325	hsa-miR-199b-3p	CLIP-seq
MIRT884328	hsa-miR-214	CLIP-seq
MIRT1962259	hsa-miR-2682	CLIP-seq
MIRT884336	hsa-miR-3120-3p	CLIP-seq
MIRT884340	hsa-miR-3129-5p	CLIP-seq
MIRT884346	hsa-miR-3175	CLIP-seq
MIRT1962267	hsa-miR-3180-5p	CLIP-seq
MIRT1962268	hsa-miR-3192	CLIP-seq
MIRT2198736	hsa-miR-3199	CLIP-seq
MIRT884352	hsa-miR-3202	CLIP-seq
MIRT1962270	hsa-miR-34a	CLIP-seq
MIRT1962271	hsa-miR-34c-5p	CLIP-seq
MIRT884357	hsa-miR-361-3p	CLIP-seq
MIRT884358	hsa-miR-3619-5p	CLIP-seq
MIRT2198737	hsa-miR-3654	CLIP-seq
MIRT884363	hsa-miR-3675-5p	CLIP-seq
MIRT884372	hsa-miR-4253	CLIP-seq
MIRT884373	hsa-miR-4257	CLIP-seq
MIRT884374	hsa-miR-4260	CLIP-seq
MIRT884376	hsa-miR-4271	CLIP-seq
MIRT884379	hsa-miR-4279	CLIP-seq
MIRT884389	hsa-miR-4330	CLIP-seq
MIRT884394	hsa-miR-4447	CLIP-seq
MIRT884396	hsa-miR-4472	CLIP-seq
MIRT1962286	hsa-miR-449a	CLIP-seq
MIRT1962287	hsa-miR-449b	CLIP-seq
MIRT1962288	hsa-miR-449c	CLIP-seq
MIRT884403	hsa-miR-4502	CLIP-seq
MIRT2198738	hsa-miR-4515	CLIP-seq
MIRT2198739	hsa-miR-4638-3p	CLIP-seq
MIRT884423	hsa-miR-4699-3p	CLIP-seq
MIRT1962295	hsa-miR-4715-5p	CLIP-seq
MIRT884425	hsa-miR-4717-5p	CLIP-seq
MIRT884430	hsa-miR-4723-5p	CLIP-seq
MIRT884431	hsa-miR-4725-3p	CLIP-seq
MIRT884436	hsa-miR-4747-5p	CLIP-seq
MIRT884442	hsa-miR-4770	CLIP-seq
MIRT884446	hsa-miR-4790-3p	CLIP-seq
MIRT884450	hsa-miR-486-3p	CLIP-seq
MIRT884463	hsa-miR-541	CLIP-seq
MIRT884466	hsa-miR-548a-3p	CLIP-seq
MIRT884474	hsa-miR-548e	CLIP-seq
MIRT884475	hsa-miR-548f	CLIP-seq
MIRT884476	hsa-miR-548g	CLIP-seq
MIRT884477	hsa-miR-548o	CLIP-seq
MIRT884481	hsa-miR-571	CLIP-seq
MIRT884491	hsa-miR-654-5p	CLIP-seq
MIRT884494	hsa-miR-661	CLIP-seq
MIRT884495	hsa-miR-665	CLIP-seq
MIRT884496	hsa-miR-761	CLIP-seq
MIRT884501	hsa-miR-922	CLIP-seq
MIRT884503	hsa-miR-936	CLIP-seq
MIRT884504	hsa-miR-939	CLIP-seq
MIRT884350	hsa-miR-3184	CLIP-seq
MIRT884371	hsa-miR-423-5p	CLIP-seq
MIRT884449	hsa-miR-485-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	NAS	10907856
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005912	Component	Adherens junction	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	10907856
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10907856
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	ISS
GO:0021591	Process	Ventricular system development	IEA
GO:0021999	Process	Neural plate anterior/posterior regionalization	IEA
GO:0021999	Process	Neural plate anterior/posterior regionalization	ISS
GO:0022407	Process	Regulation of cell-cell adhesion	ISS
GO:0032880	Process	Regulation of protein localization	IEA
GO:0033326	Process	Cerebrospinal fluid secretion	IEA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0048513	Process	Animal organ development	IEA
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060271	Process	Cilium assembly	IEA
GO:0097475	Process	Motor neuron migration	IEA
GO:0120036	Process	Plasma membrane bounded cell projection organization	IEA

Other IDs

• MIM: 604265
• HGNC: 3231
• e!Ensembl: ENSG00000143126

Protein

• UniProt ID: Q9HCU4
• Protein name: Cadherin EGF LAG seven-pass G-type receptor 2 (Cadherin family member 10) (Epidermal growth factor-like protein 2) (EGF-like protein 2) (Flamingo homolog 3) (Multiple epidermal growth factor-like domains protein 3) (Multiple EGF-like domains protein 3)
• Protein function: Receptor that may have an important role in cell/cell signaling during nervous system formation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	186 → 280	Cadherin domain	Domain
  PF00028	Cadherin	294 → 390	Cadherin domain	Domain
  PF00028	Cadherin	404 → 496	Cadherin domain	Domain
  PF00028	Cadherin	510 → 601	Cadherin domain	Domain
  PF00028	Cadherin	615 → 703	Cadherin domain	Domain
  PF00028	Cadherin	717 → 806	Cadherin domain	Domain
  PF00028	Cadherin	820 → 912	Cadherin domain	Domain
  PF00028	Cadherin	926 → 1014	Cadherin domain	Domain
  PF12661	hEGF	1337 → 1358	Human growth factor-like EGF	Domain
  PF02210	Laminin_G_2	1395 → 1554	Laminin G domain	Domain
  PF00008	EGF	1578 → 1608	EGF-like domain	Domain
  PF02210	Laminin_G_2	1644 → 1770	Laminin G domain	Domain
  PF00053	Laminin_EGF	1924 → 1970	Laminin EGF domain	Domain
  PF16489	GAIN	2051 → 2289	GPCR-Autoproteolysis INducing (GAIN) domain	Domain
  PF01825	GPS	2317 → 2362	GPCR proteolysis site, GPS, motif	Motif
  PF00002	7tm_2	2373 → 2605	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in brain and testis.
• Sequence:

  MRSPATGVPLPTPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPS
  SASNLWLYTSRCRDAGTELTGHLVPHHDGLRVWCPESEAHIPLPPAPEGCPWSCRLLGIG
  GHLSPQGKLTLPEEHPCLKAPRLRCQSCKLAQAPGLRAGERSPEESLGGRRKRNVNTAPQ
  FQPPSYQATVPENQPAGTPVASLRAIDPDEGEAGRLEYTMDALFDSRSNQFFSLDPVTGA
  VTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVTDTNDHDPVFEQQEYKESLRE
  NLEVGYEVLTVRATDGDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEV
  ESYQLTVEASDQGRDPGPRSTTAAVFLSVEDDNDNAPQFSEKRYVVQVREDVTPGAPVLR
  VTASDRDKGSNAVVHYSIMSGNARGQFYLDAQTGALDVVSPLDYETTKEYTLRVRAQDGG
  RPPLSNVSGLVTVQVLDINDNAPIFVSTPFQATVLESVPLGYLVLHVQAIDADAGDNARL
  EYRLAGVGHDFPFTINNGTGWISVAAELDREEVDFYSFGVEARDHGTPALTASASVSVTV
  LDVNDNNPTFTQPEYTVRLNEDAAVGTSVVTVSAVDRDAHSVITYQITSGNTRNRFSITS
  QSGGGLVSLALPLDYKLERQYVLAVTASDGTRQDTAQIVVNVTDANTHRPVFQSSHYTVN
  VNEDRPAGTTVVLISATDEDTGENARITYFMEDSIPQFRIDADTGAVTTQAELDYEDQVS
  YTLAITARDNGIPQKSDTTYLEILVNDVNDNAPQFLRDSYQGSVYEDVPPFTSVLQISAT
  DRDSGLNGRVFYTFQGGDDGDGDFIVESTSGIVRTLRRLDRENVAQYVLRAYAVDKGMPP
  ARTPMEVTVTVLDVNDNPPVFEQDEFDVFVEENSPIGLAVARVTATDPDEGTNAQIMYQI
  VEGNIPEVFQLDIFSGELTALVDLDYEDRPEYVLVIQATSAPLVSRATVHVRLLDRNDNP
  PVLGNFEILFNNYVTNRSSSFPGGAIGRVPAHDPDISDSLTYSFERGNELSLVLLNASTG
  ELKLSRALDNNRPLEAIMSVLVSDGVHSVTAQCALRVTIITDEMLTHSITLRLEDMSPER
  FLSPLLGLFIQAVAATLATPPDHVVVFNVQRDTDAPGGHILNVSLSVGQPPGPGGGPPFL
  PSEDLQERLYLNRSLLTAISAQRVLPFDDNICLREPCENYMRCVSVLRFDSSAPFIASSS
  VLFRPIHPVGGLRCRCPPGFTGDYCETEVDLCYSRPCGPHGRCRSREGGYTCLCRDGYTG
  EHCEVSARSGRCTPGVCKNGGTCVNLLVGGFKCDCPSGDFEKPYCQVTTRSFPAHSFITF
  RGLRQRFHFTLALSFATKERDGLLLYNGRFNEKHDFVALEVIQEQVQLTFSAGESTTTVS
  PFVPGGVSDGQWHTVQLKYYNKPLLGQTGLPQGPSEQKVAVVTVDGCDTGVALRFGSVLG
  NYSCAAQGTQGGSKKSLDLTGPLLLGGVPDLPESFPVRMRQFVGCMRNLQVDSRHIDMAD
  FIANNGTVPGCPAKKNVCDSNTCHNGGTCVNQWDAFSCECPLGFGGKSCAQEMANPQHFL
  GSSLVAWHGLSLPISQPWYLSLMFRTRQADGVLLQAITRGRSTITLQLREGHVMLSVEGT
  GLQASSLRLEPGRANDGDWHHAQLALGASGGPGHAILSFDYGQQRAEGNLGPRLHGLHLS
  NITVGGIPGPAGGVARGFRGCLQGVRVSDTPEGVNSLDPSHGESINVEQGCSLPDPCDSN
  PCPANSYCSNDWDSYSCSCDPGYYGDNCTNVCDLNPCEHQSVCTRKPSAPHGYTCECPPN
  YLGPYCETRIDQPCPRGWWGHPTCGPCNCDVSKGFDPDCNKTSGECHCKENHYRPPGSPT
  CLLCDCYPTGSLSRVCDPEDGQCPCKPGVIGRQCDRCDNPFAEVTTNGCEVNYDSCPRAI
  EAGIWWPRTRFGLPAAAPCPKGSFGTAVRHCDEHRGWLPPNLFNCTSITFSELKGFAERL
  QRNESGLDSGRSQQLALLLRNATQHTAGYFGSDVKVAYQLATRLLAHESTQRGFGLSATQ
  DVHFTENLLRVGSALLDTANKRHWELIQQTEGGTAWLLQHYEAYASALAQNMRHTYLSPF
  TIVTPNIVISVVRLDKGNFAGAKLPRYEALRGEQPPDLETTVILPESVFRETPPVVRPAG
  PGEAQEPEELARRQRRHPELSQGEAVASVIIYRTLAGLLPHNYDPDKRSLRVPKRPIINT
  PVVSISVHDDEELLPRALDKPVTVQFRLLETEERTKPICVFWNHSILVSGTGGWSARGCE
  VVFRNESHVSCQCNHMTSFAVLMDVSRRENGEILPLKTLTYVALGVTLAALLLTFFFLTL
  LRILRSNQHGIRRNLTAALGLAQLVFLLGINQADLPFACTVIAILLHFLYLCTFSWALLE
  ALHLYRALTEVRDVNTGPMRFYYMLGWGVPAFITGLAVGLDPEGYGNPDFCWLSIYDTLI
  WSFAGPVAFAVSMSVFLYILAARASCAAQRQGFEKKGPVSGLQPSFAVLLLLSATWLLAL
  LSVNSDTLLFHYLFATCNCIQGPFIFLSYVVLSKEVRKALKLACSRKPSPDPALTTKSTL
  TSSYNCPSPYADGRLYQPYGDSAGSLHSTSRSGKSQPSYIPFLLREESALNPGQGPPGLG
  DPGSLFLEGQDQQHDPDTDSDSDLSLEDDQSGSYASTHSSDSEEEEEEEEEEAAFPGEQG
  WDSLLGPGAERLPLHSTPKDGGPGPGKAPWPGDFGTTAKESSGNGAPEERLRENGDALSR
  EGSLGPLPGSSAQPHKGILKKKCLPTISEKSSLLRLPLEQCTGSSRGSSASEGSRGGPPP
  RPPPRQSLQEQLNGVMPIAMSIKAGTVDEDSSGSEFLFFNFLH

• Sequence length: 2923

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1223692503	RCV001172288
Global developmental delay	Likely pathogenic	rs561330579	RCV000454284
Intellectual disability	Likely pathogenic	rs561330579	RCV000454284

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CELSR2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs777511741, rs6698843, rs147160924, rs149683589, rs201869358, rs684138, rs653635, rs6689614, rs611917, rs562694493, rs41279712, rs368143806, rs139406620, rs377543974, rs12567377, rs369285532, rs140655472, rs183828529, rs201241773, rs150411435, rs763638740, rs778661369, rs1165128428, rs754204028, rs117684956, rs746343874, rs72703204, rs147655719, rs72703203, rs372059046, rs368138606, rs138135177, rs745890195, rs199953383, rs773120150, rs367633301, rs199897779, rs117469174, rs79850681, rs199761472, rs141489111, rs149311467, rs12083590, rs111634368, rs62623708, rs138787753, rs202085579, rs139971294, rs768661744, rs151136134, rs201291428, rs74763583, rs115995897, rs75497225, rs769441286, rs61799458, rs766950570, rs150322062	RCV003978439 RCV003984173 RCV003933349 RCV003903560 RCV003933667 RCV003968730 RCV003978576 RCV003978800 RCV003978479 RCV003926668 RCV003973665 RCV003936621 RCV003943515 RCV003973564 RCV003926564 RCV003906715 RCV003919264 RCV003894741 RCV003919677 RCV003929648 RCV003981468 RCV003981728 RCV003904315 RCV003974218 RCV003961628 RCV003959553 RCV003917175 RCV003917193 RCV003917222 RCV003917231 RCV003929424 RCV003951410 RCV003932127 RCV003932174 RCV003934297 RCV003944343 RCV003956769 RCV003954572 RCV003967101 RCV003954798 RCV003942466 RCV003915985 RCV003926083 RCV003978326 RCV003905878 RCV003920681 RCV003975630 RCV003940805 RCV003950681 RCV003902830 RCV003912906 RCV003902831 RCV003902832 RCV003902833 RCV003970496 RCV003902956 RCV003933098 RCV003974444
Cervical cancer	Benign	rs112983744	RCV005910756
Idiopathic scoliosis	Uncertain significance	rs141489111	RCV000656435
Lung cancer	Likely benign	rs140655472	RCV005931354
Orofacial-digital syndrome III	Uncertain significance	rs773722162	RCV000256426
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	rs12567377, rs140655472	RCV005926517 RCV005931353
Sarcoma	Benign	rs112983744	RCV005910757
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs920137746	RCV005939113

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	25969834, 38252350
Agenesis of Cerebellar Vermis	Associate	28052552
Angina Pectoris	Associate	33152005
Asthma	Associate	33152005
Calcinosis	Associate	24725463
Carcinoma Hepatocellular	Associate	32293343
Cardiovascular Diseases	Associate	24725463
Carotid Artery Diseases	Associate	19951432
Cerebral Infarction	Associate	26464717
Ciliopathies	Associate	27894351
Coronary Artery Disease	Associate	23050023, 24674750, 35192625, 40649979
Coronary Artery Disease Autosomal Dominant 1	Associate	22216278
Coronary Disease	Associate	20084173, 22152955, 27112212, 37147786
Coronary Stenosis	Associate	25969834
Dwarfism Pituitary	Associate	28052552
Dyslipidemias	Associate	37147786, 37582372
Fraser Syndrome	Associate	37493047
Frontotemporal Dementia	Associate	33152005
Frontotemporal Lobar Degeneration	Associate	21087763, 24373676
Hyperlipoproteinemia Type II	Associate	25414277, 36648309
Hypertension	Associate	33152005
Leukemia Myeloid Acute	Associate	31153896
Metabolic Syndrome	Associate	28388431
Myocardial Infarction	Associate	20839009, 21242481
Myotonic Dystrophy	Associate	29356453
Neoplasms	Stimulate	32293343
Neural Tube Defects	Associate	29618362
Peripheral Arterial Disease	Associate	29356453
Periventricular Nodular Heterotopia	Associate	28052552
Scoliosis	Associate	29240829