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

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
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1223692503	RCV001172288	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs561330579	RCV000454284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs561330579	RCV000454284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELSR2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL HYPERPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic scoliosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE CORONARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial-digital syndrome III	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15958618, 29489009		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	24725463	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32293343	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24725463	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	19951432		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	19951432	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26464717	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	27894351	Associate	★☆☆☆☆ Found in Text Mining only
Complex Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18462017, 18649068, 24674750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	18462017, 18649068, 24674750, 26464717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	23050023, 24674750, 35192625, 40649979	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	22216278	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	20084173, 22152955, 27112212, 37147786	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18462017, 18649068, 24674750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 22319020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247, 28753643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	25969834	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25599387		★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	28052552	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	37147786, 37582372	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	28052552, 28125082		★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	37493047	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25414277		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	25414277, 36648309	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25414277		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33152005	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26464717		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28052552		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31153896	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15958618, 29489009		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29489009		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29489009		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28388431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micropenis	Micropenis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20839009, 21242481	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	29356453	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29489009		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29618362	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	BEFREE	28052552		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	29618362		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	29356453	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	31285632		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	28052552	Associate	★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	29240829	Associate	★☆☆☆☆ Found in Text Mining only
Simple Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	28052552		★☆☆☆☆ Found in Text Mining only