GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

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

Gene

197131

Ubiquitin protein ligase E3 component n-recognin 1

UBR1

JBS

15q15.2

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

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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA	21873635
GO:0000502	Component	Proteasome complex	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 21422291, 32814053
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA	21873635
GO:0016567	Process	Protein ubiquitination	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IMP	20298436
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:0070728	Function	Leucine binding	IDA	20298436
GO:0071233	Process	Cellular response to leucine	IDA	20298436
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA	21873635

MIM	HGNC	e!Ensembl
605981	16808	ENSG00000159459

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (14)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Aplasia cutis congenita	Aplasia cutis congenita of scalp	rs587777706
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Dextrocardia	Dextrocardia	rs1555672928
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Johanson-blizzard syndrome	Johanson-Blizzard syndrome	rs119477054, rs2141312913, rs119477055, rs1596106023, rs1596118528, rs797045112, rs1131691523	16311597, 22072859, 21931868, 18553553, 26149651, 23652379, 24599544
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Oligodontia	Oligodontia	rs1591901585
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (19)

Unknown
Disease name	Disease term	dbSNP ID	References
Absent lacrimal punctum	Lacrimal Puncta, Absence of
Alopecia	Alopecia
Anodontia	Anodontia of Permanent Dentition
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Dwarfism	Dwarfism
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency
Heart septal defects	Heart Septal Defects
Hydronephrosis	Hydronephrosis
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypodontia	Hypodontia
Hypoplasia of nipple	Hypoplasia of nipple
Hypoproteinemia	Hypoproteinemia
Hypospadias	Hypospadias
Imperforate anus	Anus, Imperforate
Malabsorption syndrome	Malabsorption Syndrome
Microdontia	Microdontia (disorder)
Penis agenesis	Penis agenesis
Strabismus	Strabismus

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412