Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	197131
Gene name	Ubiquitin protein ligase E3 component n-recognin 1
Gene symbol	UBR1
Synonyms (NCBI Gene)	JBS
Chromosome	15
Chromosome location	15q15.2
Summary	The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs78948790	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs119477054	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs119477055	G>A	Pathogenic	Coding sequence variant, stop gained
rs142558660	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs768686147	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205492	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs797045112	A>T	Pathogenic	Coding sequence variant, stop gained
rs1057523835	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691523	A>C	Likely-pathogenic	Intron variant
rs1131691524	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596106023	C>T	Pathogenic	Intron variant
rs1596118528	C>T	Pathogenic	Splice acceptor variant

389

Show/Hide all (389)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028165	hsa-miR-93-5p	Sequencing	20371350
MIRT050218	hsa-miR-25-3p	CLASH	23622248
MIRT049731	hsa-miR-92a-3p	CLASH	23622248
MIRT041472	hsa-miR-193b-3p	CLASH	23622248
MIRT512779	hsa-miR-6796-3p	PAR-CLIP	22012620
MIRT533352	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT512778	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT512777	hsa-miR-3928-5p	PAR-CLIP	22012620
MIRT512776	hsa-miR-6806-3p	PAR-CLIP	22012620
MIRT512775	hsa-miR-1827	PAR-CLIP	22012620
MIRT512774	hsa-miR-3612	PAR-CLIP	22012620
MIRT512773	hsa-miR-650	PAR-CLIP	22012620
MIRT512779	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT512778	hsa-miR-873-5p	PAR-CLIP	23446348
MIRT512777	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512776	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512775	hsa-miR-1827	PAR-CLIP	23446348
MIRT512774	hsa-miR-3612	PAR-CLIP	23446348
MIRT512773	hsa-miR-650	PAR-CLIP	23446348
MIRT512779	hsa-miR-6796-3p	PAR-CLIP	22012620
MIRT533352	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT512778	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT512777	hsa-miR-3928-5p	PAR-CLIP	22012620
MIRT512776	hsa-miR-6806-3p	PAR-CLIP	22012620
MIRT512775	hsa-miR-1827	PAR-CLIP	22012620
MIRT512774	hsa-miR-3612	PAR-CLIP	22012620
MIRT512773	hsa-miR-650	PAR-CLIP	22012620
MIRT512779	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT512778	hsa-miR-873-5p	PAR-CLIP	23446348
MIRT512777	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512776	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512775	hsa-miR-1827	PAR-CLIP	23446348
MIRT512774	hsa-miR-3612	PAR-CLIP	23446348
MIRT512773	hsa-miR-650	PAR-CLIP	23446348
MIRT1471225	hsa-miR-106a	CLIP-seq
MIRT1471226	hsa-miR-106b	CLIP-seq
MIRT1471227	hsa-miR-1197	CLIP-seq
MIRT1471228	hsa-miR-1255a	CLIP-seq
MIRT1471229	hsa-miR-1255b	CLIP-seq
MIRT1471230	hsa-miR-1267	CLIP-seq
MIRT1471231	hsa-miR-1273e	CLIP-seq
MIRT1471232	hsa-miR-1275	CLIP-seq
MIRT1471233	hsa-miR-128	CLIP-seq
MIRT1471234	hsa-miR-1299	CLIP-seq
MIRT1471235	hsa-miR-130a	CLIP-seq
MIRT1471236	hsa-miR-130b	CLIP-seq
MIRT1471237	hsa-miR-1323	CLIP-seq
MIRT1471238	hsa-miR-142-5p	CLIP-seq
MIRT1471239	hsa-miR-153	CLIP-seq
MIRT1471240	hsa-miR-17	CLIP-seq
MIRT1471241	hsa-miR-1825	CLIP-seq
MIRT1471242	hsa-miR-186	CLIP-seq
MIRT1471243	hsa-miR-19a	CLIP-seq
MIRT1471244	hsa-miR-19b	CLIP-seq
MIRT1471245	hsa-miR-203	CLIP-seq
MIRT1471246	hsa-miR-20a	CLIP-seq
MIRT1471247	hsa-miR-20b	CLIP-seq
MIRT1471248	hsa-miR-216a	CLIP-seq
MIRT1471249	hsa-miR-223	CLIP-seq
MIRT1471250	hsa-miR-23a	CLIP-seq
MIRT1471251	hsa-miR-23b	CLIP-seq
MIRT1471252	hsa-miR-23c	CLIP-seq
MIRT1471253	hsa-miR-27a	CLIP-seq
MIRT1471254	hsa-miR-27b	CLIP-seq
MIRT1471255	hsa-miR-301a	CLIP-seq
MIRT1471256	hsa-miR-301b	CLIP-seq
MIRT1471257	hsa-miR-3065-5p	CLIP-seq
MIRT1471258	hsa-miR-3133	CLIP-seq
MIRT1471259	hsa-miR-3143	CLIP-seq
MIRT1471260	hsa-miR-3163	CLIP-seq
MIRT1471261	hsa-miR-3164	CLIP-seq
MIRT1471262	hsa-miR-323-3p	CLIP-seq
MIRT1471263	hsa-miR-34b	CLIP-seq
MIRT1471264	hsa-miR-34c-3p	CLIP-seq
MIRT1471265	hsa-miR-3545-3p	CLIP-seq
MIRT1471266	hsa-miR-3591-3p	CLIP-seq
MIRT1471267	hsa-miR-3609	CLIP-seq
MIRT1471268	hsa-miR-3646	CLIP-seq
MIRT1471269	hsa-miR-3662	CLIP-seq
MIRT1471270	hsa-miR-3666	CLIP-seq
MIRT1471271	hsa-miR-3681	CLIP-seq
MIRT1471272	hsa-miR-3691-5p	CLIP-seq
MIRT1471273	hsa-miR-4277	CLIP-seq
MIRT1471274	hsa-miR-4295	CLIP-seq
MIRT1471275	hsa-miR-4297	CLIP-seq
MIRT1471276	hsa-miR-4427	CLIP-seq
MIRT1471277	hsa-miR-4433	CLIP-seq
MIRT1471278	hsa-miR-4459	CLIP-seq
MIRT1471279	hsa-miR-450b-5p	CLIP-seq
MIRT1471280	hsa-miR-454	CLIP-seq
MIRT1471281	hsa-miR-4665-5p	CLIP-seq
MIRT1471282	hsa-miR-4668-5p	CLIP-seq
MIRT1471283	hsa-miR-4680-3p	CLIP-seq
MIRT1471284	hsa-miR-4684-3p	CLIP-seq
MIRT1471285	hsa-miR-4687-5p	CLIP-seq
MIRT1471286	hsa-miR-4697-3p	CLIP-seq
MIRT1471287	hsa-miR-4698	CLIP-seq
MIRT1471288	hsa-miR-4704-3p	CLIP-seq
MIRT1471289	hsa-miR-4704-5p	CLIP-seq
MIRT1471290	hsa-miR-4719	CLIP-seq
MIRT1471291	hsa-miR-4744	CLIP-seq
MIRT1471292	hsa-miR-4761-5p	CLIP-seq
MIRT1471293	hsa-miR-4768-3p	CLIP-seq
MIRT1471294	hsa-miR-4775	CLIP-seq
MIRT1471295	hsa-miR-4782-5p	CLIP-seq
MIRT1471296	hsa-miR-4793-5p	CLIP-seq
MIRT1471297	hsa-miR-4796-3p	CLIP-seq
MIRT1471298	hsa-miR-498	CLIP-seq
MIRT1471299	hsa-miR-501-3p	CLIP-seq
MIRT1471300	hsa-miR-502-3p	CLIP-seq
MIRT1471301	hsa-miR-515-3p	CLIP-seq
MIRT1471302	hsa-miR-516b	CLIP-seq
MIRT1471303	hsa-miR-519d	CLIP-seq
MIRT1471304	hsa-miR-519e	CLIP-seq
MIRT1471305	hsa-miR-543	CLIP-seq
MIRT1471306	hsa-miR-548ag	CLIP-seq
MIRT1471307	hsa-miR-548ah	CLIP-seq
MIRT1471308	hsa-miR-548ai	CLIP-seq
MIRT1471309	hsa-miR-548c-3p	CLIP-seq
MIRT1471310	hsa-miR-548o	CLIP-seq
MIRT1471311	hsa-miR-561	CLIP-seq
MIRT1471312	hsa-miR-570	CLIP-seq
MIRT1471313	hsa-miR-587	CLIP-seq
MIRT1471314	hsa-miR-590-3p	CLIP-seq
MIRT1471315	hsa-miR-607	CLIP-seq
MIRT1471316	hsa-miR-617	CLIP-seq
MIRT1471317	hsa-miR-625	CLIP-seq
MIRT1471318	hsa-miR-653	CLIP-seq
MIRT1471319	hsa-miR-93	CLIP-seq
MIRT1471225	hsa-miR-106a	CLIP-seq
MIRT1471226	hsa-miR-106b	CLIP-seq
MIRT2141851	hsa-miR-1193	CLIP-seq
MIRT1471231	hsa-miR-1273e	CLIP-seq
MIRT2141852	hsa-miR-1298	CLIP-seq
MIRT2141853	hsa-miR-1304	CLIP-seq
MIRT2141854	hsa-miR-139-5p	CLIP-seq
MIRT1471238	hsa-miR-142-5p	CLIP-seq
MIRT1471240	hsa-miR-17	CLIP-seq
MIRT1471241	hsa-miR-1825	CLIP-seq
MIRT1471242	hsa-miR-186	CLIP-seq
MIRT1471246	hsa-miR-20a	CLIP-seq
MIRT1471247	hsa-miR-20b	CLIP-seq
MIRT2141855	hsa-miR-219-5p	CLIP-seq
MIRT1471249	hsa-miR-223	CLIP-seq
MIRT1471250	hsa-miR-23a	CLIP-seq
MIRT1471251	hsa-miR-23b	CLIP-seq
MIRT1471252	hsa-miR-23c	CLIP-seq
MIRT2141856	hsa-miR-3128	CLIP-seq
MIRT1471258	hsa-miR-3133	CLIP-seq
MIRT1471265	hsa-miR-3545-3p	CLIP-seq
MIRT1471267	hsa-miR-3609	CLIP-seq
MIRT1471275	hsa-miR-4297	CLIP-seq
MIRT2141857	hsa-miR-431	CLIP-seq
MIRT2141858	hsa-miR-4317	CLIP-seq
MIRT2141859	hsa-miR-4328	CLIP-seq
MIRT2141860	hsa-miR-433	CLIP-seq
MIRT2141861	hsa-miR-4445	CLIP-seq
MIRT2141862	hsa-miR-4470	CLIP-seq
MIRT2141863	hsa-miR-4666-3p	CLIP-seq
MIRT1471285	hsa-miR-4687-5p	CLIP-seq
MIRT1471286	hsa-miR-4697-3p	CLIP-seq
MIRT1471289	hsa-miR-4704-5p	CLIP-seq
MIRT2141864	hsa-miR-4720-5p	CLIP-seq
MIRT1471291	hsa-miR-4744	CLIP-seq
MIRT2141865	hsa-miR-4762-5p	CLIP-seq
MIRT1471294	hsa-miR-4775	CLIP-seq
MIRT2141866	hsa-miR-4782-3p	CLIP-seq
MIRT1471297	hsa-miR-4796-3p	CLIP-seq
MIRT2141867	hsa-miR-4799-3p	CLIP-seq
MIRT2141868	hsa-miR-508-3p	CLIP-seq
MIRT2141869	hsa-miR-511	CLIP-seq
MIRT1471301	hsa-miR-515-3p	CLIP-seq
MIRT1471303	hsa-miR-519d	CLIP-seq
MIRT1471304	hsa-miR-519e	CLIP-seq
MIRT2141870	hsa-miR-526b	CLIP-seq
MIRT1471307	hsa-miR-548ah	CLIP-seq
MIRT1471311	hsa-miR-561	CLIP-seq
MIRT2141871	hsa-miR-579	CLIP-seq
MIRT2141872	hsa-miR-582-5p	CLIP-seq
MIRT1471313	hsa-miR-587	CLIP-seq
MIRT1471314	hsa-miR-590-3p	CLIP-seq
MIRT2141873	hsa-miR-640	CLIP-seq
MIRT2141874	hsa-miR-758	CLIP-seq
MIRT1471319	hsa-miR-93	CLIP-seq
MIRT1471225	hsa-miR-106a	CLIP-seq
MIRT1471226	hsa-miR-106b	CLIP-seq
MIRT2141851	hsa-miR-1193	CLIP-seq
MIRT1471227	hsa-miR-1197	CLIP-seq
MIRT2362474	hsa-miR-1245	CLIP-seq
MIRT1471230	hsa-miR-1267	CLIP-seq
MIRT1471231	hsa-miR-1273e	CLIP-seq
MIRT1471233	hsa-miR-128	CLIP-seq
MIRT2362475	hsa-miR-1297	CLIP-seq
MIRT1471238	hsa-miR-142-5p	CLIP-seq
MIRT1471239	hsa-miR-153	CLIP-seq
MIRT1471240	hsa-miR-17	CLIP-seq
MIRT1471241	hsa-miR-1825	CLIP-seq
MIRT1471242	hsa-miR-186	CLIP-seq
MIRT1471245	hsa-miR-203	CLIP-seq
MIRT1471246	hsa-miR-20a	CLIP-seq
MIRT1471247	hsa-miR-20b	CLIP-seq
MIRT2141855	hsa-miR-219-5p	CLIP-seq
MIRT1471249	hsa-miR-223	CLIP-seq
MIRT2362476	hsa-miR-2276	CLIP-seq
MIRT1471250	hsa-miR-23a	CLIP-seq
MIRT1471251	hsa-miR-23b	CLIP-seq
MIRT1471252	hsa-miR-23c	CLIP-seq
MIRT2362477	hsa-miR-26a	CLIP-seq
MIRT2362478	hsa-miR-26b	CLIP-seq
MIRT1471253	hsa-miR-27a	CLIP-seq
MIRT1471254	hsa-miR-27b	CLIP-seq
MIRT2362479	hsa-miR-298	CLIP-seq
MIRT1471258	hsa-miR-3133	CLIP-seq
MIRT2362480	hsa-miR-3148	CLIP-seq
MIRT2362481	hsa-miR-3152-5p	CLIP-seq
MIRT1471262	hsa-miR-323-3p	CLIP-seq
MIRT1471263	hsa-miR-34b	CLIP-seq
MIRT1471264	hsa-miR-34c-3p	CLIP-seq
MIRT1471267	hsa-miR-3609	CLIP-seq
MIRT2362482	hsa-miR-3678-3p	CLIP-seq
MIRT2362483	hsa-miR-3978	CLIP-seq
MIRT2362484	hsa-miR-4251	CLIP-seq
MIRT2362485	hsa-miR-4276	CLIP-seq
MIRT2362486	hsa-miR-4278	CLIP-seq
MIRT1471275	hsa-miR-4297	CLIP-seq
MIRT2362487	hsa-miR-4303	CLIP-seq
MIRT2362488	hsa-miR-4329	CLIP-seq
MIRT1471276	hsa-miR-4427	CLIP-seq
MIRT2141861	hsa-miR-4445	CLIP-seq
MIRT2362489	hsa-miR-4465	CLIP-seq
MIRT1471283	hsa-miR-4680-3p	CLIP-seq
MIRT2362490	hsa-miR-4680-5p	CLIP-seq
MIRT2362491	hsa-miR-4690-3p	CLIP-seq
MIRT2362492	hsa-miR-4693-3p	CLIP-seq
MIRT1471286	hsa-miR-4697-3p	CLIP-seq
MIRT1471287	hsa-miR-4698	CLIP-seq
MIRT1471289	hsa-miR-4704-5p	CLIP-seq
MIRT1471291	hsa-miR-4744	CLIP-seq
MIRT2362493	hsa-miR-4762-3p	CLIP-seq
MIRT2362494	hsa-miR-4774-3p	CLIP-seq
MIRT1471294	hsa-miR-4775	CLIP-seq
MIRT2141866	hsa-miR-4782-3p	CLIP-seq
MIRT1471296	hsa-miR-4793-5p	CLIP-seq
MIRT1471297	hsa-miR-4796-3p	CLIP-seq
MIRT2141868	hsa-miR-508-3p	CLIP-seq
MIRT1471301	hsa-miR-515-3p	CLIP-seq
MIRT1471303	hsa-miR-519d	CLIP-seq
MIRT1471304	hsa-miR-519e	CLIP-seq
MIRT1471307	hsa-miR-548ah	CLIP-seq
MIRT2362495	hsa-miR-548p	CLIP-seq
MIRT2141871	hsa-miR-579	CLIP-seq
MIRT1471313	hsa-miR-587	CLIP-seq
MIRT1471314	hsa-miR-590-3p	CLIP-seq
MIRT2141873	hsa-miR-640	CLIP-seq
MIRT1471318	hsa-miR-653	CLIP-seq
MIRT2141874	hsa-miR-758	CLIP-seq
MIRT2362496	hsa-miR-889	CLIP-seq
MIRT1471319	hsa-miR-93	CLIP-seq
MIRT2362497	hsa-miR-944	CLIP-seq
MIRT1471238	hsa-miR-142-5p	CLIP-seq
MIRT2396609	hsa-miR-4260	CLIP-seq
MIRT2656379	hsa-miR-1200	CLIP-seq
MIRT2656380	hsa-miR-1202	CLIP-seq
MIRT2656381	hsa-miR-1271	CLIP-seq
MIRT2362475	hsa-miR-1297	CLIP-seq
MIRT1471235	hsa-miR-130a	CLIP-seq
MIRT1471236	hsa-miR-130b	CLIP-seq
MIRT2656382	hsa-miR-1324	CLIP-seq
MIRT2656383	hsa-miR-136	CLIP-seq
MIRT2141854	hsa-miR-139-5p	CLIP-seq
MIRT2656384	hsa-miR-148a	CLIP-seq
MIRT2656385	hsa-miR-148b	CLIP-seq
MIRT2656386	hsa-miR-149	CLIP-seq
MIRT2656387	hsa-miR-152	CLIP-seq
MIRT2656388	hsa-miR-182	CLIP-seq
MIRT2656389	hsa-miR-1914	CLIP-seq
MIRT1471243	hsa-miR-19a	CLIP-seq
MIRT1471244	hsa-miR-19b	CLIP-seq
MIRT2656390	hsa-miR-200b	CLIP-seq
MIRT2656391	hsa-miR-200c	CLIP-seq
MIRT1471245	hsa-miR-203	CLIP-seq
MIRT2656392	hsa-miR-2114	CLIP-seq
MIRT1471248	hsa-miR-216a	CLIP-seq
MIRT2362477	hsa-miR-26a	CLIP-seq
MIRT2362478	hsa-miR-26b	CLIP-seq
MIRT2362479	hsa-miR-298	CLIP-seq
MIRT1471255	hsa-miR-301a	CLIP-seq
MIRT1471256	hsa-miR-301b	CLIP-seq
MIRT2656393	hsa-miR-3064-3p	CLIP-seq
MIRT2656394	hsa-miR-3064-5p	CLIP-seq
MIRT2656395	hsa-miR-3074-5p	CLIP-seq
MIRT2656396	hsa-miR-3145-5p	CLIP-seq
MIRT2362480	hsa-miR-3148	CLIP-seq
MIRT2362481	hsa-miR-3152-5p	CLIP-seq
MIRT2656397	hsa-miR-3187-3p	CLIP-seq
MIRT2656398	hsa-miR-34a	CLIP-seq
MIRT2656399	hsa-miR-34c-5p	CLIP-seq
MIRT2656400	hsa-miR-3611	CLIP-seq
MIRT2656401	hsa-miR-3652	CLIP-seq
MIRT1471270	hsa-miR-3666	CLIP-seq
MIRT2362482	hsa-miR-3678-3p	CLIP-seq
MIRT2656402	hsa-miR-3909	CLIP-seq
MIRT2656403	hsa-miR-3942-5p	CLIP-seq
MIRT2656404	hsa-miR-3972	CLIP-seq
MIRT2362483	hsa-miR-3978	CLIP-seq
MIRT2362486	hsa-miR-4278	CLIP-seq
MIRT2656405	hsa-miR-429	CLIP-seq
MIRT1471274	hsa-miR-4295	CLIP-seq
MIRT2656406	hsa-miR-4305	CLIP-seq
MIRT2656407	hsa-miR-4307	CLIP-seq
MIRT2656408	hsa-miR-4311	CLIP-seq
MIRT2141858	hsa-miR-4317	CLIP-seq
MIRT1471276	hsa-miR-4427	CLIP-seq
MIRT2656409	hsa-miR-4430	CLIP-seq
MIRT2362489	hsa-miR-4465	CLIP-seq
MIRT2656410	hsa-miR-449a	CLIP-seq
MIRT2656411	hsa-miR-449b	CLIP-seq
MIRT2656412	hsa-miR-4505	CLIP-seq
MIRT2656413	hsa-miR-4506	CLIP-seq
MIRT2656414	hsa-miR-4517	CLIP-seq
MIRT2656415	hsa-miR-4529-5p	CLIP-seq
MIRT1471280	hsa-miR-454	CLIP-seq
MIRT2656416	hsa-miR-4639-5p	CLIP-seq
MIRT1471283	hsa-miR-4680-3p	CLIP-seq
MIRT2656417	hsa-miR-4703-5p	CLIP-seq
MIRT2656418	hsa-miR-4705	CLIP-seq
MIRT2656419	hsa-miR-4724-5p	CLIP-seq
MIRT2362494	hsa-miR-4774-3p	CLIP-seq
MIRT2656420	hsa-miR-4794	CLIP-seq
MIRT2656421	hsa-miR-488	CLIP-seq
MIRT2656422	hsa-miR-502-5p	CLIP-seq
MIRT2656423	hsa-miR-508-5p	CLIP-seq
MIRT2656424	hsa-miR-520d-5p	CLIP-seq
MIRT2656425	hsa-miR-524-5p	CLIP-seq
MIRT2141870	hsa-miR-526b	CLIP-seq
MIRT2656426	hsa-miR-539	CLIP-seq
MIRT1471309	hsa-miR-548c-3p	CLIP-seq
MIRT2656427	hsa-miR-548m	CLIP-seq
MIRT2656428	hsa-miR-574-3p	CLIP-seq
MIRT2656429	hsa-miR-642a	CLIP-seq
MIRT2656430	hsa-miR-885-5p	CLIP-seq
MIRT2656431	hsa-miR-9	CLIP-seq
MIRT2656432	hsa-miR-96	CLIP-seq
MIRT2656381	hsa-miR-1271	CLIP-seq
MIRT1471235	hsa-miR-130a	CLIP-seq
MIRT1471236	hsa-miR-130b	CLIP-seq
MIRT2141854	hsa-miR-139-5p	CLIP-seq
MIRT2656384	hsa-miR-148a	CLIP-seq
MIRT2656385	hsa-miR-148b	CLIP-seq
MIRT2656387	hsa-miR-152	CLIP-seq
MIRT2656388	hsa-miR-182	CLIP-seq
MIRT1471243	hsa-miR-19a	CLIP-seq
MIRT1471244	hsa-miR-19b	CLIP-seq
MIRT1471245	hsa-miR-203	CLIP-seq
MIRT1471248	hsa-miR-216a	CLIP-seq
MIRT2362479	hsa-miR-298	CLIP-seq
MIRT1471255	hsa-miR-301a	CLIP-seq
MIRT1471256	hsa-miR-301b	CLIP-seq
MIRT2656393	hsa-miR-3064-3p	CLIP-seq
MIRT2656395	hsa-miR-3074-5p	CLIP-seq
MIRT2362481	hsa-miR-3152-5p	CLIP-seq
MIRT2694688	hsa-miR-3182	CLIP-seq
MIRT2656398	hsa-miR-34a	CLIP-seq
MIRT2656399	hsa-miR-34c-5p	CLIP-seq
MIRT1471270	hsa-miR-3666	CLIP-seq
MIRT2362482	hsa-miR-3678-3p	CLIP-seq
MIRT2362486	hsa-miR-4278	CLIP-seq
MIRT1471274	hsa-miR-4295	CLIP-seq
MIRT2656408	hsa-miR-4311	CLIP-seq
MIRT1471276	hsa-miR-4427	CLIP-seq
MIRT2656410	hsa-miR-449a	CLIP-seq
MIRT2656411	hsa-miR-449b	CLIP-seq
MIRT2656413	hsa-miR-4506	CLIP-seq
MIRT2656414	hsa-miR-4517	CLIP-seq
MIRT1471280	hsa-miR-454	CLIP-seq
MIRT1471283	hsa-miR-4680-3p	CLIP-seq
MIRT2656418	hsa-miR-4705	CLIP-seq
MIRT2694689	hsa-miR-4729	CLIP-seq
MIRT2362494	hsa-miR-4774-3p	CLIP-seq
MIRT2656422	hsa-miR-502-5p	CLIP-seq
MIRT2141869	hsa-miR-511	CLIP-seq
MIRT2656424	hsa-miR-520d-5p	CLIP-seq
MIRT2656425	hsa-miR-524-5p	CLIP-seq
MIRT1471309	hsa-miR-548c-3p	CLIP-seq
MIRT2656427	hsa-miR-548m	CLIP-seq
MIRT2656428	hsa-miR-574-3p	CLIP-seq
MIRT1471313	hsa-miR-587	CLIP-seq
MIRT2656431	hsa-miR-9	CLIP-seq
MIRT2656432	hsa-miR-96	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0000502	Component	Proteasome complex	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 21422291, 28514442, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	16311597
GO:0005829	Component	Cytosol	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IMP	20298436
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15548684
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	15548684, 18162545
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070728	Function	L-leucine binding	IDA	20298436
GO:0070728	Function	L-leucine binding	IEA
GO:0071233	Process	Cellular response to L-leucine	IDA	20298436
GO:0071233	Process	Cellular response to L-leucine	IEA
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IDA	16311597, 18162545, 20835242, 28392261
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IEA

MIM	HGNC	e!Ensembl
605981	16808	ENSG00000159459

Q8IWV7

Protein name

E3 ubiquitin-protein ligase UBR1 (EC 2.3.2.27) (N-recognin-1) (Ubiquitin-protein ligase E3-alpha-1) (Ubiquitin-protein ligase E3-alpha-I)

Protein function

E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:16311597, PubMed:18162545, PubMed:20835242, PubMed:28392261). Recognizes and binds proteins bearing specific N-terminal residues that are destabi

PDB

3NY1 , 5TDC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02207	zf-UBR	98 → 166	Putative zinc finger in N-recognin (UBR box)	Family
PF02617	ClpS	221 → 301	ATP-dependent Clp protease adaptor protein ClpS	Family
PF18995	PRT6_C	1297 → 1724	Proteolysis_6 C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). {ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:16311597, ECO:0000269|PubMed:9653112}.

Sequence

MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLE
KQEESVQMSIFTPLEWYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPT
CVLCMDCFQDSVHKNHRYKMHTSTGGGFCDCGDTEAWKTGPFCVNHEPGRAGTIKENSRC
PLNEEVIVQARKIFPSVIKYVVEMTIWEEEKELPPELQIREKNERYYCVLFNDEHHSYDH
VIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQEAKEDIKSHSENVSQHPLHV
EVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPCLISRLMLWDA
KLYKGARKILHELIFSSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQ
MFTVPTLARHLIEEQNVISVITETLLEVLPEYLDRNNKFNFQGYSQDKLGRVYAVICDLK
YILISKPTIWTERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQHIEVDPDWEAAIAIQM
QLKNILLMFQEWCACDEELLLVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRV
SEDLVSIHLPLSRTLAGLHVRLSRLGAVSRLHEFVSFEDFQVEVLVEYPLRCLVLVAQVV
AEMWRRNGLSLISQVFYYQDVKCREEMYDKDIIMLQIGASLMDPNKFLLLVLQRYELAEA
FNKTISTKDQDLIKQYNTLIEEMLQVLIYIVGERYVPGVGNVTKEEVTMREIIHLLCIEP
MPHSAIAKNLPENENNETGLENVINKVATFKKPGVSGHGVYELKDESLKDFNMYFYHYSK
TQHSKAEHMQKKRRKQENKDEALPPPPPPEFCPAFSKVINLLNCDIMMYILRTVFERAID
TDSNLWTEGMLQMAFHILALGLLEEKQQLQKAPEEEVTFDFYHKASRLGSSAMNIQMLLE
KLKGIPQLEGQKDMITWILQMFDTVKRLREKSCLIVATTSGSESIKNDEITHDKEKAERK
RKAEAARLHRQKIMAQMSALQKNFIETHKLMYDNTSEMPGKEDSIMEEESTPAVSDYSRI
ALGPKRGPSVTEKEVLTCILCQEEQEVKIENNAMVLSACVQKSTALTQHRGKPIELSGEA
LDPLFMDPDLAYGTYTGSCGHVMHAVCWQKYFEAVQLSSQQRIHVDLFDLESGEYLCPLC
KSLCNTVIPIIPLQPQKINSENADALAQLLTLARWIQTVLARISGYNIRHAKGENPIPIF
FNQGMGDSTLEFHSILSFGVESSIKYSNSIKEMVILFATTIYRIGLKVPPDERDPRVPML
TWSTCAFTIQAIENLLGDEGKPLFGALQNRQHNGLKALMQFAVAQRITCPQVLIQKHLVR
LLSVVLPNIKSEDTPCLLSIDLFHVLVGAVLAFPSLYWDDPVDLQPSSVSSSYNHLYLFH
LITMAHMLQILLTVDTGLPLAQVQEDSEEAHSASSFFAEISQYTSGSIGCDIPGWYLWVS
LKNGITPYLRCAALFFHYLLGVTPPEELHTNSAEGEYSALCSYLSLPTNLFLLFQEYWDT
VRPLLQRWCADPALLNCLKQKNTVVRYPRKRNSLIELPDDYSCLLNQASHFRCPRSADDE
RKHPVLCLFCGAILCSQNICCQEIVNGEEVGACIFHALHCGAGVCIFLKIRECRVVLVEG
KARGCAYPAPYLDEYGETDPGLKRGNPLHLSRERYRKLHLVWQQHCIIEEIARSQETNQM
LFGFNWQLL

Sequence length

1749

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Johanson-Blizzard syndrome	Likely pathogenic; Pathogenic	rs2033511910, rs780491123, rs374049779, rs1265375100, rs2033232817, rs2141312913, rs119477055, rs1596106023, rs797045112, rs1873545198, rs2542967186, rs1596118528, rs1131691523, rs267604210	RCV001328772 RCV001844312 RCV001785111 RCV001797014 RCV002289270 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UBR1-related disorder	Likely pathogenic; Pathogenic	rs2543005722, rs2543041315, rs2033596870	RCV003404179 RCV003414302 RCV004731565	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	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
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (71)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	16862188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31072331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29541932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita of scalp	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16862188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	23322614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	31681945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19006206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24178751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34787049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16862188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	16632090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24178751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	20186173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16311597, 19006206, 26149651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	21711208, 23322614, 30097546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	BEFREE	16311597, 19006206, 19058315, 20556423, 20835242, 21711208, 21931868, 24599544, 25036160, 26149651, 27397733, 29178640, 30097546		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	ORPHANET_DG	16311597, 21931868, 23652379		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	UNIPROT_DG	16311597, 21931868, 22072859, 24599544, 26149651		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	GENOMICS_ENGLAND_DG	18553553		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lacrimal Puncta, Absence of	Absent lacrimal punctum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21303977, 34787049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16862188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	25920555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	25920555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16311597, 19006206, 26149651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20186173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31072331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30940687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	35222891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	26989884		★★★★★ ★☆☆☆☆ Found in Text Mining only
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	BEFREE	26989884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	16311597, 16632090, 27397733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	25076350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	27397733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16862188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39181686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26149651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

UBR1 (ubiquitin protein ligase E3 component n-recognin 1)