FREM2 (FRAS1 related extracellular matrix 2)

Gene

• Entrez ID: 341640
• Gene name: FRAS1 related extracellular matrix 2
• Gene symbol: FREM2
• Synonyms (NCBI Gene): CRYPTOP, FRASRS2
• Chromosome: 13
• Chromosome location: 13q13.3
• Summary: This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epider

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41286130	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs114400765	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs114688149	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs114837786	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs121434355	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs139804851	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs140101984	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs142322683	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143044921	G>A,T	Risk-factor, likely-pathogenic, uncertain-significance, benign	Missense variant, non coding transcript variant, coding sequence variant
rs145657148	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs146685625	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs148794835	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs150154438	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs749834830	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs752032044	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs757243985	G>A,T	Likely-pathogenic	Splice donor variant
rs765324128	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs767978562	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs775394591	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs776269575	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs863223346	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886043213	->T	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs939534674	C>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs1555261304	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555261576	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs1566133616	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1566169711	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020399	hsa-miR-29c-3p	Sequencing	20371350
MIRT040156	hsa-miR-615-3p	CLASH	23622248
MIRT628213	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT557798	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT628212	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT628211	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT628210	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT628209	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT628208	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT628207	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT628206	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT628205	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT628204	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628203	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT557794	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT628202	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628201	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT557790	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT557799	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT557798	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT557797	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT557796	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT557795	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT557794	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT557793	hsa-miR-3924	PAR-CLIP	21572407
MIRT557792	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT557791	hsa-miR-297	PAR-CLIP	21572407
MIRT557790	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT557789	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT628213	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT557798	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT628212	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT628211	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT628210	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT628209	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT628208	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT628207	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT628206	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT628205	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT628204	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT628203	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT557794	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT628202	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628201	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT557790	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT557799	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT557798	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT557797	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT557796	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT557795	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT557794	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT557793	hsa-miR-3924	PAR-CLIP	21572407
MIRT557792	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT557791	hsa-miR-297	PAR-CLIP	21572407
MIRT557790	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT557789	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT1004180	hsa-let-7a	CLIP-seq
MIRT1004181	hsa-let-7b	CLIP-seq
MIRT1004182	hsa-let-7c	CLIP-seq
MIRT1004183	hsa-let-7d	CLIP-seq
MIRT1004184	hsa-let-7e	CLIP-seq
MIRT1004185	hsa-let-7f	CLIP-seq
MIRT1004186	hsa-let-7g	CLIP-seq
MIRT1004187	hsa-let-7i	CLIP-seq
MIRT1004188	hsa-miR-101	CLIP-seq
MIRT1004189	hsa-miR-106a	CLIP-seq
MIRT1004190	hsa-miR-106b	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT1004193	hsa-miR-1208	CLIP-seq
MIRT1004194	hsa-miR-1237	CLIP-seq
MIRT1004195	hsa-miR-1248	CLIP-seq
MIRT1004196	hsa-miR-1257	CLIP-seq
MIRT1004197	hsa-miR-1297	CLIP-seq
MIRT1004198	hsa-miR-132	CLIP-seq
MIRT1004199	hsa-miR-137	CLIP-seq
MIRT1004200	hsa-miR-141	CLIP-seq
MIRT1004201	hsa-miR-142-5p	CLIP-seq
MIRT1004202	hsa-miR-144	CLIP-seq
MIRT1004203	hsa-miR-145	CLIP-seq
MIRT1004204	hsa-miR-147	CLIP-seq
MIRT1004205	hsa-miR-155	CLIP-seq
MIRT1004206	hsa-miR-17	CLIP-seq
MIRT1004207	hsa-miR-186	CLIP-seq
MIRT1004208	hsa-miR-18a	CLIP-seq
MIRT1004209	hsa-miR-18b	CLIP-seq
MIRT1004210	hsa-miR-1912	CLIP-seq
MIRT1004211	hsa-miR-194	CLIP-seq
MIRT1004212	hsa-miR-200a	CLIP-seq
MIRT1004213	hsa-miR-200b	CLIP-seq
MIRT1004214	hsa-miR-200c	CLIP-seq
MIRT1004215	hsa-miR-202	CLIP-seq
MIRT1004216	hsa-miR-203	CLIP-seq
MIRT1004217	hsa-miR-2052	CLIP-seq
MIRT1004218	hsa-miR-20a	CLIP-seq
MIRT1004219	hsa-miR-20b	CLIP-seq
MIRT1004220	hsa-miR-2115	CLIP-seq
MIRT1004221	hsa-miR-2117	CLIP-seq
MIRT1004222	hsa-miR-212	CLIP-seq
MIRT1004223	hsa-miR-217	CLIP-seq
MIRT1004224	hsa-miR-24	CLIP-seq
MIRT1004225	hsa-miR-2681	CLIP-seq
MIRT1004226	hsa-miR-26a	CLIP-seq
MIRT1004227	hsa-miR-26b	CLIP-seq
MIRT1004228	hsa-miR-28-5p	CLIP-seq
MIRT1004229	hsa-miR-2861	CLIP-seq
MIRT1004230	hsa-miR-3115	CLIP-seq
MIRT1004231	hsa-miR-3119	CLIP-seq
MIRT1004232	hsa-miR-3122	CLIP-seq
MIRT1004233	hsa-miR-3125	CLIP-seq
MIRT1004234	hsa-miR-3130-5p	CLIP-seq
MIRT1004235	hsa-miR-3139	CLIP-seq
MIRT1004236	hsa-miR-3143	CLIP-seq
MIRT1004237	hsa-miR-3145-5p	CLIP-seq
MIRT1004238	hsa-miR-3148	CLIP-seq
MIRT1004239	hsa-miR-3158-3p	CLIP-seq
MIRT1004240	hsa-miR-3173-3p	CLIP-seq
MIRT1004241	hsa-miR-3174	CLIP-seq
MIRT1004242	hsa-miR-3175	CLIP-seq
MIRT1004243	hsa-miR-3189-3p	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1004245	hsa-miR-34b	CLIP-seq
MIRT1004246	hsa-miR-3545-3p	CLIP-seq
MIRT1004247	hsa-miR-3609	CLIP-seq
MIRT1004248	hsa-miR-3612	CLIP-seq
MIRT1004249	hsa-miR-3614-5p	CLIP-seq
MIRT1004250	hsa-miR-3618	CLIP-seq
MIRT1004251	hsa-miR-3622b-5p	CLIP-seq
MIRT1004252	hsa-miR-3646	CLIP-seq
MIRT1004253	hsa-miR-3659	CLIP-seq
MIRT1004254	hsa-miR-3671	CLIP-seq
MIRT1004255	hsa-miR-3673	CLIP-seq
MIRT1004256	hsa-miR-3688-3p	CLIP-seq
MIRT1004257	hsa-miR-3689a-3p	CLIP-seq
MIRT1004258	hsa-miR-3689a-5p	CLIP-seq
MIRT1004259	hsa-miR-3689b	CLIP-seq
MIRT1004260	hsa-miR-3689c	CLIP-seq
MIRT1004261	hsa-miR-3689d	CLIP-seq
MIRT1004262	hsa-miR-3689e	CLIP-seq
MIRT1004263	hsa-miR-3689f	CLIP-seq
MIRT1004264	hsa-miR-3691-5p	CLIP-seq
MIRT1004265	hsa-miR-3911	CLIP-seq
MIRT1004266	hsa-miR-3913-5p	CLIP-seq
MIRT1004267	hsa-miR-3916	CLIP-seq
MIRT1004268	hsa-miR-3977	CLIP-seq
MIRT1004269	hsa-miR-4252	CLIP-seq
MIRT1004270	hsa-miR-4254	CLIP-seq
MIRT1004271	hsa-miR-4273	CLIP-seq
MIRT1004272	hsa-miR-4277	CLIP-seq
MIRT1004273	hsa-miR-429	CLIP-seq
MIRT1004274	hsa-miR-4293	CLIP-seq
MIRT1004275	hsa-miR-4302	CLIP-seq
MIRT1004276	hsa-miR-4308	CLIP-seq
MIRT1004277	hsa-miR-4311	CLIP-seq
MIRT1004278	hsa-miR-4318	CLIP-seq
MIRT1004279	hsa-miR-432	CLIP-seq
MIRT1004280	hsa-miR-4320	CLIP-seq
MIRT1004281	hsa-miR-4418	CLIP-seq
MIRT1004282	hsa-miR-4420	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT1004284	hsa-miR-4422	CLIP-seq
MIRT1004285	hsa-miR-4428	CLIP-seq
MIRT1004286	hsa-miR-4434	CLIP-seq
MIRT1004287	hsa-miR-4443	CLIP-seq
MIRT1004288	hsa-miR-4446-3p	CLIP-seq
MIRT1004289	hsa-miR-4458	CLIP-seq
MIRT1004290	hsa-miR-4465	CLIP-seq
MIRT1004291	hsa-miR-4474-3p	CLIP-seq
MIRT1004292	hsa-miR-4482	CLIP-seq
MIRT1004293	hsa-miR-4500	CLIP-seq
MIRT1004294	hsa-miR-450b-5p	CLIP-seq
MIRT1004295	hsa-miR-4516	CLIP-seq
MIRT1004296	hsa-miR-4521	CLIP-seq
MIRT1004297	hsa-miR-4531	CLIP-seq
MIRT1004298	hsa-miR-4539	CLIP-seq
MIRT1004299	hsa-miR-455-5p	CLIP-seq
MIRT1004300	hsa-miR-4633-3p	CLIP-seq
MIRT1004301	hsa-miR-4639-5p	CLIP-seq
MIRT1004302	hsa-miR-4658	CLIP-seq
MIRT1004303	hsa-miR-4662a-5p	CLIP-seq
MIRT1004304	hsa-miR-4667-5p	CLIP-seq
MIRT1004305	hsa-miR-4668-3p	CLIP-seq
MIRT1004306	hsa-miR-4668-5p	CLIP-seq
MIRT1004307	hsa-miR-4670-3p	CLIP-seq
MIRT1004308	hsa-miR-4679	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT1004310	hsa-miR-4687-3p	CLIP-seq
MIRT1004311	hsa-miR-4698	CLIP-seq
MIRT1004312	hsa-miR-4700-5p	CLIP-seq
MIRT1004313	hsa-miR-4712-5p	CLIP-seq
MIRT1004314	hsa-miR-4713-5p	CLIP-seq
MIRT1004315	hsa-miR-4722-5p	CLIP-seq
MIRT1004316	hsa-miR-4724-5p	CLIP-seq
MIRT1004317	hsa-miR-4727-3p	CLIP-seq
MIRT1004318	hsa-miR-4727-5p	CLIP-seq
MIRT1004319	hsa-miR-4728-5p	CLIP-seq
MIRT1004320	hsa-miR-4729	CLIP-seq
MIRT1004321	hsa-miR-4735-3p	CLIP-seq
MIRT1004322	hsa-miR-4746-3p	CLIP-seq
MIRT1004323	hsa-miR-4747-5p	CLIP-seq
MIRT1004324	hsa-miR-4752	CLIP-seq
MIRT1004325	hsa-miR-4765	CLIP-seq
MIRT1004326	hsa-miR-4768-3p	CLIP-seq
MIRT1004327	hsa-miR-4769-3p	CLIP-seq
MIRT1004328	hsa-miR-4790-3p	CLIP-seq
MIRT1004329	hsa-miR-4792	CLIP-seq
MIRT1004330	hsa-miR-4795-3p	CLIP-seq
MIRT1004331	hsa-miR-4796-3p	CLIP-seq
MIRT1004332	hsa-miR-4802-3p	CLIP-seq
MIRT1004333	hsa-miR-496	CLIP-seq
MIRT1004334	hsa-miR-499-3p	CLIP-seq
MIRT1004335	hsa-miR-499a-3p	CLIP-seq
MIRT1004336	hsa-miR-499a-5p	CLIP-seq
MIRT1004337	hsa-miR-502-5p	CLIP-seq
MIRT1004338	hsa-miR-509-3-5p	CLIP-seq
MIRT1004339	hsa-miR-509-5p	CLIP-seq
MIRT1004340	hsa-miR-516a-3p	CLIP-seq
MIRT1004341	hsa-miR-518a-5p	CLIP-seq
MIRT1004342	hsa-miR-519d	CLIP-seq
MIRT1004343	hsa-miR-520d-5p	CLIP-seq
MIRT1004344	hsa-miR-521	CLIP-seq
MIRT1004345	hsa-miR-524-5p	CLIP-seq
MIRT1004346	hsa-miR-527	CLIP-seq
MIRT1004347	hsa-miR-539	CLIP-seq
MIRT1004348	hsa-miR-543	CLIP-seq
MIRT1004349	hsa-miR-548ag	CLIP-seq
MIRT1004350	hsa-miR-548ah	CLIP-seq
MIRT1004351	hsa-miR-548ai	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT1004353	hsa-miR-561	CLIP-seq
MIRT1004354	hsa-miR-562	CLIP-seq
MIRT1004355	hsa-miR-567	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT1004357	hsa-miR-595	CLIP-seq
MIRT1004358	hsa-miR-607	CLIP-seq
MIRT1004359	hsa-miR-640	CLIP-seq
MIRT1004360	hsa-miR-644	CLIP-seq
MIRT1004361	hsa-miR-645	CLIP-seq
MIRT1004362	hsa-miR-650	CLIP-seq
MIRT1004363	hsa-miR-654-3p	CLIP-seq
MIRT1004364	hsa-miR-656	CLIP-seq
MIRT1004365	hsa-miR-658	CLIP-seq
MIRT1004366	hsa-miR-659	CLIP-seq
MIRT1004367	hsa-miR-664	CLIP-seq
MIRT1004368	hsa-miR-708	CLIP-seq
MIRT1004369	hsa-miR-770-5p	CLIP-seq
MIRT1004370	hsa-miR-889	CLIP-seq
MIRT1004371	hsa-miR-93	CLIP-seq
MIRT1004372	hsa-miR-935	CLIP-seq
MIRT1004373	hsa-miR-98	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT1997646	hsa-miR-1253	CLIP-seq
MIRT1997647	hsa-miR-1276	CLIP-seq
MIRT1997648	hsa-miR-1285	CLIP-seq
MIRT1997649	hsa-miR-1289	CLIP-seq
MIRT1997650	hsa-miR-1294	CLIP-seq
MIRT1997651	hsa-miR-136	CLIP-seq
MIRT1004200	hsa-miR-141	CLIP-seq
MIRT1004205	hsa-miR-155	CLIP-seq
MIRT1997652	hsa-miR-185	CLIP-seq
MIRT1004208	hsa-miR-18a	CLIP-seq
MIRT1004209	hsa-miR-18b	CLIP-seq
MIRT1004212	hsa-miR-200a	CLIP-seq
MIRT1004223	hsa-miR-217	CLIP-seq
MIRT1997653	hsa-miR-218	CLIP-seq
MIRT1997654	hsa-miR-25	CLIP-seq
MIRT1997655	hsa-miR-29a	CLIP-seq
MIRT1997656	hsa-miR-29b	CLIP-seq
MIRT1997657	hsa-miR-29c	CLIP-seq
MIRT1997658	hsa-miR-3117-5p	CLIP-seq
MIRT1997659	hsa-miR-3120-3p	CLIP-seq
MIRT1997660	hsa-miR-3123	CLIP-seq
MIRT1997661	hsa-miR-3129-3p	CLIP-seq
MIRT1997662	hsa-miR-3133	CLIP-seq
MIRT1004236	hsa-miR-3143	CLIP-seq
MIRT1997663	hsa-miR-3145-3p	CLIP-seq
MIRT1997664	hsa-miR-3150b-3p	CLIP-seq
MIRT1997665	hsa-miR-3154	CLIP-seq
MIRT1997666	hsa-miR-3156-5p	CLIP-seq
MIRT1997667	hsa-miR-3187-5p	CLIP-seq
MIRT1997668	hsa-miR-3198	CLIP-seq
MIRT1997669	hsa-miR-32	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1997670	hsa-miR-3591-5p	CLIP-seq
MIRT1997671	hsa-miR-3607-5p	CLIP-seq
MIRT1997672	hsa-miR-361-3p	CLIP-seq
MIRT1997673	hsa-miR-3620	CLIP-seq
MIRT1997674	hsa-miR-363	CLIP-seq
MIRT1997675	hsa-miR-367	CLIP-seq
MIRT1004258	hsa-miR-3689a-5p	CLIP-seq
MIRT1004259	hsa-miR-3689b	CLIP-seq
MIRT1004262	hsa-miR-3689e	CLIP-seq
MIRT1004263	hsa-miR-3689f	CLIP-seq
MIRT1004264	hsa-miR-3691-5p	CLIP-seq
MIRT1997676	hsa-miR-374c	CLIP-seq
MIRT1997677	hsa-miR-3920	CLIP-seq
MIRT1997678	hsa-miR-3940-5p	CLIP-seq
MIRT1997679	hsa-miR-3941	CLIP-seq
MIRT1997680	hsa-miR-3974	CLIP-seq
MIRT1997681	hsa-miR-4255	CLIP-seq
MIRT1997682	hsa-miR-4289	CLIP-seq
MIRT1004274	hsa-miR-4293	CLIP-seq
MIRT1997683	hsa-miR-4294	CLIP-seq
MIRT1997684	hsa-miR-4306	CLIP-seq
MIRT1997685	hsa-miR-4309	CLIP-seq
MIRT1004277	hsa-miR-4311	CLIP-seq
MIRT1004278	hsa-miR-4318	CLIP-seq
MIRT1004280	hsa-miR-4320	CLIP-seq
MIRT1997686	hsa-miR-4325	CLIP-seq
MIRT1004281	hsa-miR-4418	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT1997687	hsa-miR-4426	CLIP-seq
MIRT1004286	hsa-miR-4434	CLIP-seq
MIRT1997688	hsa-miR-4453	CLIP-seq
MIRT1997689	hsa-miR-4507	CLIP-seq
MIRT1997690	hsa-miR-450a	CLIP-seq
MIRT1997691	hsa-miR-4511	CLIP-seq
MIRT1004295	hsa-miR-4516	CLIP-seq
MIRT1997692	hsa-miR-4520b-3p	CLIP-seq
MIRT1004297	hsa-miR-4531	CLIP-seq
MIRT1997693	hsa-miR-4538	CLIP-seq
MIRT1997694	hsa-miR-4540	CLIP-seq
MIRT1004300	hsa-miR-4633-3p	CLIP-seq
MIRT1997695	hsa-miR-4644	CLIP-seq
MIRT1997696	hsa-miR-4647	CLIP-seq
MIRT1997697	hsa-miR-466	CLIP-seq
MIRT1004303	hsa-miR-4662a-5p	CLIP-seq
MIRT1997698	hsa-miR-4662b	CLIP-seq
MIRT1997699	hsa-miR-4666-3p	CLIP-seq
MIRT1997700	hsa-miR-4666-5p	CLIP-seq
MIRT1004307	hsa-miR-4670-3p	CLIP-seq
MIRT1997701	hsa-miR-4672	CLIP-seq
MIRT1997702	hsa-miR-4677-3p	CLIP-seq
MIRT1004308	hsa-miR-4679	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT1997703	hsa-miR-4696	CLIP-seq
MIRT1004311	hsa-miR-4698	CLIP-seq
MIRT1997704	hsa-miR-4699-3p	CLIP-seq
MIRT1997705	hsa-miR-4701-5p	CLIP-seq
MIRT1004321	hsa-miR-4735-3p	CLIP-seq
MIRT1004324	hsa-miR-4752	CLIP-seq
MIRT1997706	hsa-miR-4762-3p	CLIP-seq
MIRT1997707	hsa-miR-4766-5p	CLIP-seq
MIRT1997708	hsa-miR-4784	CLIP-seq
MIRT1997709	hsa-miR-4793-5p	CLIP-seq
MIRT1004330	hsa-miR-4795-3p	CLIP-seq
MIRT1004332	hsa-miR-4802-3p	CLIP-seq
MIRT1997710	hsa-miR-493	CLIP-seq
MIRT1997711	hsa-miR-501-5p	CLIP-seq
MIRT1997712	hsa-miR-508-5p	CLIP-seq
MIRT1004338	hsa-miR-509-3-5p	CLIP-seq
MIRT1004339	hsa-miR-509-5p	CLIP-seq
MIRT1004344	hsa-miR-521	CLIP-seq
MIRT1004348	hsa-miR-543	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT1997713	hsa-miR-556-3p	CLIP-seq
MIRT1997714	hsa-miR-558	CLIP-seq
MIRT1997715	hsa-miR-576-3p	CLIP-seq
MIRT1997716	hsa-miR-579	CLIP-seq
MIRT1997717	hsa-miR-583	CLIP-seq
MIRT1997718	hsa-miR-588	CLIP-seq
MIRT1997719	hsa-miR-590-3p	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT1004358	hsa-miR-607	CLIP-seq
MIRT1997720	hsa-miR-612	CLIP-seq
MIRT1997721	hsa-miR-636	CLIP-seq
MIRT1997722	hsa-miR-655	CLIP-seq
MIRT1997723	hsa-miR-661	CLIP-seq
MIRT1997724	hsa-miR-766	CLIP-seq
MIRT1997725	hsa-miR-877	CLIP-seq
MIRT1997726	hsa-miR-92a	CLIP-seq
MIRT1997727	hsa-miR-92b	CLIP-seq
MIRT1004372	hsa-miR-935	CLIP-seq
MIRT1997728	hsa-miR-943	CLIP-seq
MIRT2231338	hsa-miR-105	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT2231339	hsa-miR-1226	CLIP-seq
MIRT1997647	hsa-miR-1276	CLIP-seq
MIRT2231340	hsa-miR-1279	CLIP-seq
MIRT2231341	hsa-miR-1282	CLIP-seq
MIRT2231342	hsa-miR-1287	CLIP-seq
MIRT2231343	hsa-miR-1304	CLIP-seq
MIRT1004200	hsa-miR-141	CLIP-seq
MIRT1004205	hsa-miR-155	CLIP-seq
MIRT2231344	hsa-miR-181a	CLIP-seq
MIRT2231345	hsa-miR-181b	CLIP-seq
MIRT2231346	hsa-miR-181c	CLIP-seq
MIRT2231347	hsa-miR-181d	CLIP-seq
MIRT2231348	hsa-miR-1827	CLIP-seq
MIRT1004207	hsa-miR-186	CLIP-seq
MIRT2231349	hsa-miR-197	CLIP-seq
MIRT1004212	hsa-miR-200a	CLIP-seq
MIRT2231350	hsa-miR-2110	CLIP-seq
MIRT1004223	hsa-miR-217	CLIP-seq
MIRT1997654	hsa-miR-25	CLIP-seq
MIRT1004225	hsa-miR-2681	CLIP-seq
MIRT1997655	hsa-miR-29a	CLIP-seq
MIRT1997656	hsa-miR-29b	CLIP-seq
MIRT1997657	hsa-miR-29c	CLIP-seq
MIRT2231351	hsa-miR-302f	CLIP-seq
MIRT1997658	hsa-miR-3117-5p	CLIP-seq
MIRT1997659	hsa-miR-3120-3p	CLIP-seq
MIRT2231352	hsa-miR-3124-3p	CLIP-seq
MIRT1997662	hsa-miR-3133	CLIP-seq
MIRT2231353	hsa-miR-3135b	CLIP-seq
MIRT2231354	hsa-miR-3137	CLIP-seq
MIRT2231355	hsa-miR-3138	CLIP-seq
MIRT1997663	hsa-miR-3145-3p	CLIP-seq
MIRT1004237	hsa-miR-3145-5p	CLIP-seq
MIRT1004238	hsa-miR-3148	CLIP-seq
MIRT2231356	hsa-miR-3150a-3p	CLIP-seq
MIRT1997664	hsa-miR-3150b-3p	CLIP-seq
MIRT2231357	hsa-miR-3160-5p	CLIP-seq
MIRT2231358	hsa-miR-3163	CLIP-seq
MIRT2231359	hsa-miR-3177-5p	CLIP-seq
MIRT2231360	hsa-miR-3180-5p	CLIP-seq
MIRT1997669	hsa-miR-32	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1004245	hsa-miR-34b	CLIP-seq
MIRT1004246	hsa-miR-3545-3p	CLIP-seq
MIRT1997671	hsa-miR-3607-5p	CLIP-seq
MIRT2231361	hsa-miR-3619-3p	CLIP-seq
MIRT1997674	hsa-miR-363	CLIP-seq
MIRT2231362	hsa-miR-3662	CLIP-seq
MIRT2231363	hsa-miR-3664-3p	CLIP-seq
MIRT1997675	hsa-miR-367	CLIP-seq
MIRT1004257	hsa-miR-3689a-3p	CLIP-seq
MIRT1004258	hsa-miR-3689a-5p	CLIP-seq
MIRT1004259	hsa-miR-3689b	CLIP-seq
MIRT1004260	hsa-miR-3689c	CLIP-seq
MIRT1004262	hsa-miR-3689e	CLIP-seq
MIRT1004263	hsa-miR-3689f	CLIP-seq
MIRT2231364	hsa-miR-377	CLIP-seq
MIRT1997679	hsa-miR-3941	CLIP-seq
MIRT1004268	hsa-miR-3977	CLIP-seq
MIRT2231365	hsa-miR-412	CLIP-seq
MIRT2231366	hsa-miR-421	CLIP-seq
MIRT2231367	hsa-miR-4262	CLIP-seq
MIRT2231368	hsa-miR-4267	CLIP-seq
MIRT2231369	hsa-miR-4271	CLIP-seq
MIRT1004274	hsa-miR-4293	CLIP-seq
MIRT1004275	hsa-miR-4302	CLIP-seq
MIRT1004277	hsa-miR-4311	CLIP-seq
MIRT2231370	hsa-miR-4328	CLIP-seq
MIRT1004281	hsa-miR-4418	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT1004284	hsa-miR-4422	CLIP-seq
MIRT1997687	hsa-miR-4426	CLIP-seq
MIRT2231371	hsa-miR-4433	CLIP-seq
MIRT1004286	hsa-miR-4434	CLIP-seq
MIRT2231372	hsa-miR-4435	CLIP-seq
MIRT2231373	hsa-miR-4450	CLIP-seq
MIRT2231374	hsa-miR-4459	CLIP-seq
MIRT2231375	hsa-miR-4502	CLIP-seq
MIRT1997691	hsa-miR-4511	CLIP-seq
MIRT1004295	hsa-miR-4516	CLIP-seq
MIRT1997692	hsa-miR-4520b-3p	CLIP-seq
MIRT2231376	hsa-miR-4529-3p	CLIP-seq
MIRT1004297	hsa-miR-4531	CLIP-seq
MIRT2231377	hsa-miR-4535	CLIP-seq
MIRT1004298	hsa-miR-4539	CLIP-seq
MIRT1997694	hsa-miR-4540	CLIP-seq
MIRT1004300	hsa-miR-4633-3p	CLIP-seq
MIRT1997696	hsa-miR-4647	CLIP-seq
MIRT1004303	hsa-miR-4662a-5p	CLIP-seq
MIRT1997698	hsa-miR-4662b	CLIP-seq
MIRT1997700	hsa-miR-4666-5p	CLIP-seq
MIRT1004304	hsa-miR-4667-5p	CLIP-seq
MIRT1004306	hsa-miR-4668-5p	CLIP-seq
MIRT2231378	hsa-miR-4677-5p	CLIP-seq
MIRT2231379	hsa-miR-4678	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT2231380	hsa-miR-4689	CLIP-seq
MIRT1004312	hsa-miR-4700-5p	CLIP-seq
MIRT1997705	hsa-miR-4701-5p	CLIP-seq
MIRT2231381	hsa-miR-4709-5p	CLIP-seq
MIRT2231382	hsa-miR-4719	CLIP-seq
MIRT1004315	hsa-miR-4722-5p	CLIP-seq
MIRT1004316	hsa-miR-4724-5p	CLIP-seq
MIRT2231383	hsa-miR-4725-3p	CLIP-seq
MIRT2231384	hsa-miR-4733-3p	CLIP-seq
MIRT2231385	hsa-miR-4753-3p	CLIP-seq
MIRT1997706	hsa-miR-4762-3p	CLIP-seq
MIRT1004326	hsa-miR-4768-3p	CLIP-seq
MIRT2231386	hsa-miR-4776-5p	CLIP-seq
MIRT1997708	hsa-miR-4784	CLIP-seq
MIRT1004329	hsa-miR-4792	CLIP-seq
MIRT1997709	hsa-miR-4793-5p	CLIP-seq
MIRT2231387	hsa-miR-4800-5p	CLIP-seq
MIRT1004332	hsa-miR-4802-3p	CLIP-seq
MIRT2231388	hsa-miR-4803	CLIP-seq
MIRT2231389	hsa-miR-486-5p	CLIP-seq
MIRT1004333	hsa-miR-496	CLIP-seq
MIRT1997711	hsa-miR-501-5p	CLIP-seq
MIRT1004338	hsa-miR-509-3-5p	CLIP-seq
MIRT1004339	hsa-miR-509-5p	CLIP-seq
MIRT2231390	hsa-miR-510	CLIP-seq
MIRT2231391	hsa-miR-512-5p	CLIP-seq
MIRT2231392	hsa-miR-515-5p	CLIP-seq
MIRT1004348	hsa-miR-543	CLIP-seq
MIRT1004349	hsa-miR-548ag	CLIP-seq
MIRT1004351	hsa-miR-548ai	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT1997713	hsa-miR-556-3p	CLIP-seq
MIRT1997714	hsa-miR-558	CLIP-seq
MIRT2231393	hsa-miR-570	CLIP-seq
MIRT1997715	hsa-miR-576-3p	CLIP-seq
MIRT1997717	hsa-miR-583	CLIP-seq
MIRT1997718	hsa-miR-588	CLIP-seq
MIRT1997719	hsa-miR-590-3p	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT2231394	hsa-miR-626	CLIP-seq
MIRT2231395	hsa-miR-634	CLIP-seq
MIRT1004359	hsa-miR-640	CLIP-seq
MIRT2231396	hsa-miR-760	CLIP-seq
MIRT2231397	hsa-miR-875-3p	CLIP-seq
MIRT1997725	hsa-miR-877	CLIP-seq
MIRT1997726	hsa-miR-92a	CLIP-seq
MIRT1997727	hsa-miR-92b	CLIP-seq
MIRT1004372	hsa-miR-935	CLIP-seq
MIRT2231398	hsa-miR-936	CLIP-seq
MIRT2231399	hsa-miR-940	CLIP-seq
MIRT1997649	hsa-miR-1289	CLIP-seq
MIRT1997652	hsa-miR-185	CLIP-seq
MIRT2388190	hsa-miR-1976	CLIP-seq
MIRT1997660	hsa-miR-3123	CLIP-seq
MIRT1997664	hsa-miR-3150b-3p	CLIP-seq
MIRT1997668	hsa-miR-3198	CLIP-seq
MIRT1004251	hsa-miR-3622b-5p	CLIP-seq
MIRT2388191	hsa-miR-4279	CLIP-seq
MIRT1004274	hsa-miR-4293	CLIP-seq
MIRT1997683	hsa-miR-4294	CLIP-seq
MIRT1997684	hsa-miR-4306	CLIP-seq
MIRT1997685	hsa-miR-4309	CLIP-seq
MIRT1997695	hsa-miR-4644	CLIP-seq
MIRT2388192	hsa-miR-4645-5p	CLIP-seq
MIRT2388193	hsa-miR-4673	CLIP-seq
MIRT2388194	hsa-miR-4676-5p	CLIP-seq
MIRT1004317	hsa-miR-4727-3p	CLIP-seq
MIRT1004323	hsa-miR-4747-5p	CLIP-seq
MIRT2388195	hsa-miR-4755-3p	CLIP-seq
MIRT1004326	hsa-miR-4768-3p	CLIP-seq
MIRT1997708	hsa-miR-4784	CLIP-seq
MIRT2388196	hsa-miR-4786-3p	CLIP-seq
MIRT1997714	hsa-miR-558	CLIP-seq
MIRT2388197	hsa-miR-575	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT2388194	hsa-miR-4676-5p	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT2449906	hsa-miR-548ae	CLIP-seq
MIRT2449907	hsa-miR-548aj	CLIP-seq
MIRT2449908	hsa-miR-548am	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT2449909	hsa-miR-548x	CLIP-seq
MIRT2388197	hsa-miR-575	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT1004275	hsa-miR-4302	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT1997648	hsa-miR-1285	CLIP-seq
MIRT1997652	hsa-miR-185	CLIP-seq
MIRT1997654	hsa-miR-25	CLIP-seq
MIRT1004238	hsa-miR-3148	CLIP-seq
MIRT1997664	hsa-miR-3150b-3p	CLIP-seq
MIRT1997667	hsa-miR-3187-5p	CLIP-seq
MIRT1997669	hsa-miR-32	CLIP-seq
MIRT2535288	hsa-miR-335	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1997674	hsa-miR-363	CLIP-seq
MIRT1997675	hsa-miR-367	CLIP-seq
MIRT2535289	hsa-miR-371-5p	CLIP-seq
MIRT1997684	hsa-miR-4306	CLIP-seq
MIRT1997686	hsa-miR-4325	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT1004286	hsa-miR-4434	CLIP-seq
MIRT1004295	hsa-miR-4516	CLIP-seq
MIRT1004297	hsa-miR-4531	CLIP-seq
MIRT1997695	hsa-miR-4644	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT1997708	hsa-miR-4784	CLIP-seq
MIRT1004332	hsa-miR-4802-3p	CLIP-seq
MIRT1997712	hsa-miR-508-5p	CLIP-seq
MIRT2449906	hsa-miR-548ae	CLIP-seq
MIRT2449907	hsa-miR-548aj	CLIP-seq
MIRT2449908	hsa-miR-548am	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT2449909	hsa-miR-548x	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT1997720	hsa-miR-612	CLIP-seq
MIRT1997723	hsa-miR-661	CLIP-seq
MIRT1997724	hsa-miR-766	CLIP-seq
MIRT1997726	hsa-miR-92a	CLIP-seq
MIRT1997727	hsa-miR-92b	CLIP-seq
MIRT1004191	hsa-miR-10a	CLIP-seq
MIRT1004192	hsa-miR-10b	CLIP-seq
MIRT1997648	hsa-miR-1285	CLIP-seq
MIRT2231348	hsa-miR-1827	CLIP-seq
MIRT1997652	hsa-miR-185	CLIP-seq
MIRT1997654	hsa-miR-25	CLIP-seq
MIRT1004238	hsa-miR-3148	CLIP-seq
MIRT1997664	hsa-miR-3150b-3p	CLIP-seq
MIRT1997667	hsa-miR-3187-5p	CLIP-seq
MIRT1997669	hsa-miR-32	CLIP-seq
MIRT2535288	hsa-miR-335	CLIP-seq
MIRT1004244	hsa-miR-339-5p	CLIP-seq
MIRT1004245	hsa-miR-34b	CLIP-seq
MIRT1004249	hsa-miR-3614-5p	CLIP-seq
MIRT1997674	hsa-miR-363	CLIP-seq
MIRT1997675	hsa-miR-367	CLIP-seq
MIRT2535289	hsa-miR-371-5p	CLIP-seq
MIRT1004274	hsa-miR-4293	CLIP-seq
MIRT1997684	hsa-miR-4306	CLIP-seq
MIRT1997686	hsa-miR-4325	CLIP-seq
MIRT1004283	hsa-miR-4421	CLIP-seq
MIRT1004286	hsa-miR-4434	CLIP-seq
MIRT1004295	hsa-miR-4516	CLIP-seq
MIRT1004297	hsa-miR-4531	CLIP-seq
MIRT1997695	hsa-miR-4644	CLIP-seq
MIRT1004309	hsa-miR-4684-5p	CLIP-seq
MIRT1004315	hsa-miR-4722-5p	CLIP-seq
MIRT1004326	hsa-miR-4768-3p	CLIP-seq
MIRT1997708	hsa-miR-4784	CLIP-seq
MIRT1004332	hsa-miR-4802-3p	CLIP-seq
MIRT1997712	hsa-miR-508-5p	CLIP-seq
MIRT2449906	hsa-miR-548ae	CLIP-seq
MIRT2449907	hsa-miR-548aj	CLIP-seq
MIRT2449908	hsa-miR-548am	CLIP-seq
MIRT1004352	hsa-miR-548c-3p	CLIP-seq
MIRT2449909	hsa-miR-548x	CLIP-seq
MIRT1004356	hsa-miR-593	CLIP-seq
MIRT1997720	hsa-miR-612	CLIP-seq
MIRT1997723	hsa-miR-661	CLIP-seq
MIRT1997724	hsa-miR-766	CLIP-seq
MIRT1997726	hsa-miR-92a	CLIP-seq
MIRT1997727	hsa-miR-92b	CLIP-seq
MIRT2231399	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IMP	29688405, 30802441
GO:0001822	Process	Kidney development	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0005515	Function	Protein binding	IPI	29688405
GO:0005604	Component	Basement membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IMP	29688405
GO:0007507	Process	Heart development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 608945
• HGNC: 25396
• e!Ensembl: ENSG00000150893

Protein

• UniProt ID: Q5SZK8
• Protein name: FRAS1-related extracellular matrix protein 2 (ECM3 homolog)
• Protein function: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16184	Cadherin_3	302 → 416		Domain
  PF16184	Cadherin_3	421 → 539		Domain
  PF16184	Cadherin_3	543 → 677		Domain
  PF16184	Cadherin_3	683 → 809		Domain
  PF16184	Cadherin_3	812 → 921		Domain
  PF16184	Cadherin_3	923 → 1039		Domain
  PF16184	Cadherin_3	1050 → 1170		Domain
  PF16184	Cadherin_3	1173 → 1284		Domain
  PF16184	Cadherin_3	1286 → 1401		Domain
  PF16184	Cadherin_3	1405 → 1514		Domain
  PF16184	Cadherin_3	1516 → 1623		Domain
  PF16184	Cadherin_3	1638 → 1754		Domain
  PF03160	Calx-beta	1762 → 1858	Calx-beta domain	Domain
  PF03160	Calx-beta	1871 → 1982	Calx-beta domain	Domain
  PF03160	Calx-beta	1996 → 2103	Calx-beta domain	Domain
  PF03160	Calx-beta	2116 → 2220	Calx-beta domain	Domain
  PF03160	Calx-beta	2238 → 2342	Calx-beta domain	Domain

• Sequence:

  MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGL
  AGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPG
  RLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLE
  VVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVP
  GGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKR
  EHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLT
  SPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGA
  ASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVR
  LEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGG
  GRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVL
  ESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGP
  HSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTP
  LRKKWLRYTDLDTDDRELRYTVTQSPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQIN
  HHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQ
  EKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRV
  SYAHNGDKSLTDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENG
  ATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTS
  GEIGLLPKADSFNLSLSDMSQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEG
  DKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKD
  LRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQPEMFMREFMV
  MEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIES
  SSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTK
  IINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLI
  QYVHLGQEGIRDLIKFDVTDGINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLT
  TDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADD
  EVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVED
  RDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTV
  TDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMIT
  SKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGA
  NATSDMFYFAVEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGET
  SFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEP
  VLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYT
  QQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVL
  LSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKS
  SSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFEL
  VLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRS
  SVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLG
  TPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQG
  DTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVH
  LKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYP
  VICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFT
  SSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAE
  PFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKC
  SNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFV
  SYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSEL
  RLTFVYDTAILWNDGIGSPPEAELQGSLYPTSMRIGDEGRLAVHFKTEAQFHGLFVLSHP
  ASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTA
  PSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGF
  GQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCL
  ADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPL
  FQVALGREWYIHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPS
  LAWEIGAENSRGTNIQHIALDRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTV
  GLLTICLTVIAVLMCRGKESFRGKDAPKGSSSSEPMVPPQSHHNDSSEV

• Sequence length: 3169

Pathways

KEGG:

ECM-receptor interaction

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
Childhood-onset schizophrenia	Likely pathogenic	rs863223346	RCV000202338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diaphragmatic hernia	Likely pathogenic	rs775394591	RCV000578072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fraser syndrome 1	Likely pathogenic; Pathogenic	rs759257554, rs2137911471, rs2541358924, rs2541504813, rs1171150612, rs767978562, rs752032044	RCV003230695 RCV002238690 RCV002308536 RCV003155888 RCV003486519 RCV002509476 RCV000826108	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fraser syndrome 2	Likely pathogenic; Pathogenic	rs2138066721, rs759257554, rs376122266, rs1566169711, rs2541488826, rs2541495847, rs886043213, rs764607184, rs2541497277, rs1219155526, rs2541507235, rs746915794, rs760715972, rs753746099, rs1555261304, rs776269575, rs1869502750, rs939534674, rs765324128, rs750020230, rs1869545423, rs1869623039, rs1869683236, rs1869886793, rs1877244252, rs1869579851, rs769926034	RCV001844350 RCV005006042 RCV002251218 RCV000002063 RCV003228065 RCV005010877 RCV005008250 RCV003334335 RCV003389277 RCV005012918 RCV003447900 RCV005013074 RCV004594709 RCV005013261 RCV000625674 RCV000625675 RCV000767222 RCV002493397 RCV005860143 RCV005012296 RCV001172418 RCV001172403 RCV001172417 RCV001172402 RCV001172404 RCV001263473 RCV001263472	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FREM2-related disorder	Likely pathogenic; Pathogenic	rs2541489672, rs1219155526, rs1290466457, rs2541507210, rs760715972, rs750020230	RCV003397346 RCV003391316 RCV003410485 RCV003408409 RCV003948931 RCV003892699	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated cryptophthalmia	Likely pathogenic; Pathogenic	rs759257554, rs2541495847, rs886043213, rs1219155526, rs746915794, rs753746099, rs939534674, rs1566133616, rs765324128, rs750020230, rs769926034	RCV005006042 RCV005010877 RCV005008250 RCV005012918 RCV005013074 RCV005013261 RCV000767223 RCV000767224 RCV000767225 RCV005012296 RCV002486009	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMBIGUOUS GENITALIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE CRYPTOPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE CRYPTOPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOTIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with nail dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME	—	CTD, Orphanet CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY OF THE TOES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	30720096		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous Genitalia	Ambiguous Genitalia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BNAR syndrome	BNAR Syndrome	BEFREE	21507892		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	21900877, 29197384	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete cryptophthalmia	Complete Cryptophthalmia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21182980		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	21182980		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29618029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	30691450	Associate	★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	15838507		★☆☆☆☆ Found in Text Mining only
Cryptophthalmos	Cryptophthalmos	BEFREE	21182980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos	Cryptophthalmos	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos	Cryptophthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos syndrome	Fraser syndrome	BEFREE	15838507, 16880404, 17163535, 17990920, 18671281, 21182980, 21507892, 21756877, 21900877, 22283518, 22510445, 24115501, 29197384, 29688405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos syndrome	Fraser syndrome	CTD_human_DG	17163535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos syndrome	Fraser syndrome	ORPHANET_DG	18671281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos syndrome	Fraser syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos, Unilateral or Bilateral, Isolated	Cryptophthalmos	UNIPROT_DG	29688405, 30802441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos, Unilateral or Bilateral, Isolated	Cryptophthalmos	ORPHANET_DG	29688405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptophthalmos, Unilateral or Bilateral, Isolated	Cryptophthalmos	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptotia	Cryptotia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	15838507		★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female Pseudohermaphroditism	Female Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fraser syndrome	Fraser Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser Syndrome	Fraser syndrome	Pubtator	21900877, 26552811, 29197384, 29688405, 34837691, 37353237	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME 1	Fraser Syndrome	GENOMICS_ENGLAND_DG	15838507, 18671281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRASER SYNDROME 2	Fraser syndrome	UNIPROT_DG	15838507, 29688405, 30802441		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRASER SYNDROME 2	Fraser syndrome	GENOMICS_ENGLAND_DG	15838507		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRASER SYNDROME 2	Fraser syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29734672, 31357584		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29734672		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	22538188		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimal duct aplasia	Lacrimal duct aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	GENOMICS_ENGLAND_DG	15838507		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	29688405	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	15838507		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21182980		★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of fingers	Syndactyly of fingers	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	21900877, 24700879		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only