LBR (lamin B receptor)

Gene

• Entrez ID: 3930
• Gene name: Lamin B receptor
• Gene symbol: LBR
• Synonyms (NCBI Gene): C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
• Chromosome: 1
• Chromosome location: 1q42.12
• Summary: The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148541545	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200180113	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs374343844	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906416	TAGAAGA>CTTCTAG	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs573510559	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587777171	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777172	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs754049402	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863223326	ACCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312905	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs886037616	ATAAAA>-	Pathogenic	Intron variant
rs886037655	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516045	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1131691304	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1236962991	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1558655670	ATG>TTTCTCATCA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019632	hsa-miR-340-5p	Sequencing	20371350
MIRT020277	hsa-miR-130b-3p	Sequencing	20371350
MIRT021190	hsa-miR-186-5p	Sequencing	20371350
MIRT022092	hsa-miR-128-3p	Sequencing	20371350
MIRT025202	hsa-miR-181a-5p	Sequencing	20371350
MIRT026004	hsa-miR-148a-3p	Sequencing	20371350
MIRT026051	hsa-miR-196a-5p	Sequencing	20371350
MIRT027366	hsa-miR-101-3p	Sequencing	20371350
MIRT028716	hsa-miR-27a-3p	Sequencing	20371350
MIRT030542	hsa-miR-24-3p	Sequencing	20371350
MIRT031247	hsa-miR-19b-3p	Sequencing	20371350
MIRT032162	hsa-let-7d-5p	Sequencing	20371350
MIRT032443	hsa-let-7b-5p	Proteomics	18668040
MIRT047214	hsa-miR-182-5p	CLASH	23622248
MIRT046348	hsa-miR-23b-3p	CLASH	23622248
MIRT041836	hsa-miR-484	CLASH	23622248
MIRT039426	hsa-miR-421	CLASH	23622248
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT566989	hsa-miR-3133	PAR-CLIP	20371350
MIRT021190	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT566988	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT566987	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT566986	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT336416	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT063764	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566985	hsa-miR-3671	PAR-CLIP	20371350
MIRT566984	hsa-miR-607	PAR-CLIP	20371350
MIRT566983	hsa-miR-603	PAR-CLIP	20371350
MIRT025202	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT566982	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT566981	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT566980	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT566979	hsa-miR-4262	PAR-CLIP	20371350
MIRT336389	hsa-miR-1278	PAR-CLIP	20371350
MIRT566978	hsa-miR-4307	PAR-CLIP	20371350
MIRT566977	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT566976	hsa-miR-4251	PAR-CLIP	20371350
MIRT566975	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT566974	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT566973	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT566972	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT566971	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT566970	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT566969	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT566968	hsa-miR-5088-5p	PAR-CLIP	20371350
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT496937	hsa-miR-655-5p	PAR-CLIP	22291592
MIRT496936	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT496935	hsa-miR-6086	PAR-CLIP	22291592
MIRT442418	hsa-miR-4729	PAR-CLIP	22100165
MIRT442417	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT185488	hsa-miR-5696	PAR-CLIP	22100165
MIRT185483	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT185487	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442415	hsa-miR-3658	PAR-CLIP	22100165
MIRT442416	hsa-miR-335-3p	PAR-CLIP	22100165
MIRT025202	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT566982	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT566981	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT566980	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT028716	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727321	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT019632	hsa-miR-340-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	34181735
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT566989	hsa-miR-3133	PAR-CLIP	20371350
MIRT021190	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT566988	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT566987	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT566986	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT336416	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT063764	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566985	hsa-miR-3671	PAR-CLIP	20371350
MIRT566984	hsa-miR-607	PAR-CLIP	20371350
MIRT566983	hsa-miR-603	PAR-CLIP	20371350
MIRT025202	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT566982	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT566981	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT566980	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT566979	hsa-miR-4262	PAR-CLIP	20371350
MIRT336389	hsa-miR-1278	PAR-CLIP	20371350
MIRT566978	hsa-miR-4307	PAR-CLIP	20371350
MIRT566977	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT566976	hsa-miR-4251	PAR-CLIP	20371350
MIRT566975	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT566974	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT566973	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT566972	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT566971	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT566970	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT566969	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT566968	hsa-miR-5088-5p	PAR-CLIP	20371350
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT496937	hsa-miR-655-5p	PAR-CLIP	22291592
MIRT496936	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT496935	hsa-miR-6086	PAR-CLIP	22291592
MIRT442418	hsa-miR-4729	PAR-CLIP	22100165
MIRT442417	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT185488	hsa-miR-5696	PAR-CLIP	22100165
MIRT185483	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT185487	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442415	hsa-miR-3658	PAR-CLIP	22100165
MIRT442416	hsa-miR-335-3p	PAR-CLIP	22100165
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105376	hsa-miR-1248	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105379	hsa-miR-129-5p	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105393	hsa-miR-3160-5p	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT1105411	hsa-miR-4747-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105448	hsa-miR-1207-3p	CLIP-seq
MIRT1105449	hsa-miR-1257	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT1105451	hsa-miR-1286	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105452	hsa-miR-132	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105453	hsa-miR-144	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105462	hsa-miR-2052	CLIP-seq
MIRT1105463	hsa-miR-2053	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105464	hsa-miR-212	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105468	hsa-miR-2964a-3p	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT1105470	hsa-miR-3074-3p	CLIP-seq
MIRT1105471	hsa-miR-3153	CLIP-seq
MIRT1105472	hsa-miR-323-3p	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105475	hsa-miR-3606	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105476	hsa-miR-3647-3p	CLIP-seq
MIRT1105477	hsa-miR-3667-3p	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105479	hsa-miR-4270	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105482	hsa-miR-4433	CLIP-seq
MIRT1105483	hsa-miR-4441	CLIP-seq
MIRT1105484	hsa-miR-4452	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105486	hsa-miR-4464	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT1105488	hsa-miR-4540	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT1105491	hsa-miR-4719	CLIP-seq
MIRT1105492	hsa-miR-4722-5p	CLIP-seq
MIRT1105493	hsa-miR-4748	CLIP-seq
MIRT1105494	hsa-miR-4760-3p	CLIP-seq
MIRT1105495	hsa-miR-4804-3p	CLIP-seq
MIRT1105496	hsa-miR-496	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105497	hsa-miR-5095	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105498	hsa-miR-513b	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105499	hsa-miR-548g	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105501	hsa-miR-885-3p	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105376	hsa-miR-1248	CLIP-seq
MIRT1105379	hsa-miR-129-5p	CLIP-seq
MIRT2029069	hsa-miR-142-5p	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT2029070	hsa-miR-340	CLIP-seq
MIRT2029071	hsa-miR-346	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT2029072	hsa-miR-4288	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105484	hsa-miR-4452	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT2029073	hsa-miR-4484	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT2029074	hsa-miR-450b-5p	CLIP-seq
MIRT2029075	hsa-miR-4709-5p	CLIP-seq
MIRT1105411	hsa-miR-4747-3p	CLIP-seq
MIRT2029076	hsa-miR-495	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT2029077	hsa-miR-548an	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT2029078	hsa-miR-632	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT2260048	hsa-miR-10a	CLIP-seq
MIRT2260049	hsa-miR-10b	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT2260050	hsa-miR-1290	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT2260051	hsa-miR-130a	CLIP-seq
MIRT2260052	hsa-miR-130b	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT2029069	hsa-miR-142-5p	CLIP-seq
MIRT2260053	hsa-miR-148a	CLIP-seq
MIRT2260054	hsa-miR-148b	CLIP-seq
MIRT2260055	hsa-miR-152	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT2260056	hsa-miR-223	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT2260057	hsa-miR-301a	CLIP-seq
MIRT2260058	hsa-miR-301b	CLIP-seq
MIRT2260059	hsa-miR-3065-5p	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT2260060	hsa-miR-3182	CLIP-seq
MIRT2260061	hsa-miR-337-3p	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT2260062	hsa-miR-339-5p	CLIP-seq
MIRT2029070	hsa-miR-340	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT2029071	hsa-miR-346	CLIP-seq
MIRT1105475	hsa-miR-3606	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT2260063	hsa-miR-3617	CLIP-seq
MIRT2260064	hsa-miR-3666	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT2260066	hsa-miR-3942-3p	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT2029072	hsa-miR-4288	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2260067	hsa-miR-4295	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT2029073	hsa-miR-4484	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT2260068	hsa-miR-4502	CLIP-seq
MIRT2260069	hsa-miR-4503	CLIP-seq
MIRT2260070	hsa-miR-4519	CLIP-seq
MIRT2260071	hsa-miR-454	CLIP-seq
MIRT1105488	hsa-miR-4540	CLIP-seq
MIRT2260072	hsa-miR-4652-3p	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT2260073	hsa-miR-4697-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT2260075	hsa-miR-4725-5p	CLIP-seq
MIRT2260076	hsa-miR-483-3p	CLIP-seq
MIRT2029076	hsa-miR-495	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT2260077	hsa-miR-504	CLIP-seq
MIRT1105497	hsa-miR-5095	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105498	hsa-miR-513b	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT2260078	hsa-miR-520g	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT2260079	hsa-miR-548ac	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT2029077	hsa-miR-548an	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT2260081	hsa-miR-548d-3p	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT2260082	hsa-miR-548z	CLIP-seq
MIRT2260083	hsa-miR-561	CLIP-seq
MIRT2260084	hsa-miR-579	CLIP-seq
MIRT2029078	hsa-miR-632	CLIP-seq
MIRT2260085	hsa-miR-641	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT2560307	hsa-miR-1287	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT2560308	hsa-miR-3135b	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2560309	hsa-miR-433	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT2560310	hsa-miR-548aa	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT2560311	hsa-miR-548u	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT2560307	hsa-miR-1287	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT2683802	hsa-miR-302f	CLIP-seq
MIRT1105470	hsa-miR-3074-3p	CLIP-seq
MIRT2560308	hsa-miR-3135b	CLIP-seq
MIRT2683803	hsa-miR-3143	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT2260060	hsa-miR-3182	CLIP-seq
MIRT2683804	hsa-miR-320a	CLIP-seq
MIRT2683805	hsa-miR-320b	CLIP-seq
MIRT2683806	hsa-miR-320c	CLIP-seq
MIRT2683807	hsa-miR-320d	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT2683808	hsa-miR-3672	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2560309	hsa-miR-433	CLIP-seq
MIRT2683809	hsa-miR-4429	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT2683810	hsa-miR-4639-5p	CLIP-seq
MIRT2260072	hsa-miR-4652-3p	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT2683811	hsa-miR-4803	CLIP-seq
MIRT2683812	hsa-miR-491-3p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT2683813	hsa-miR-501-3p	CLIP-seq
MIRT2683814	hsa-miR-502-3p	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT2560310	hsa-miR-548aa	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT2560311	hsa-miR-548u	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8157662
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	8663349, 26009488, 28514442, 28565870, 32296183, 32694168, 33961781, 35271311
GO:0005521	Function	Lamin binding	TAS	8157662
GO:0005634	Component	Nucleus	IDA	21327084
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IDA	32694168
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	TAS	8157662
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21327084
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21327084
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	16784888
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IMP	27336722
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	15698635
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA
GO:0030223	Process	Neutrophil differentiation	IEA
GO:0030223	Process	Neutrophil differentiation	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0050613	Function	Delta14-sterol reductase activity	IBA
GO:0050613	Function	Delta14-sterol reductase activity	IDA	9630650, 16784888
GO:0050613	Function	Delta14-sterol reductase activity	IEA
GO:0050613	Function	Delta14-sterol reductase activity	IMP	12618959, 21327084, 27336722
GO:0050613	Function	Delta14-sterol reductase activity	TAS
GO:0060816	Process	Random inactivation of X chromosome	IEA
GO:0070087	Function	Chromo shadow domain binding	IPI	15882967
GO:0070402	Function	NADPH binding	IMP	27336722
GO:0140463	Function	Chromatin-protein adaptor activity	IEA

Other IDs

• MIM: 600024
• HGNC: 6518
• e!Ensembl: ENSG00000143815

Protein

• UniProt ID: Q14739
• Protein name: Delta(14)-sterol reductase LBR (Delta-14-SR) (EC 1.3.1.70) (3-beta-hydroxysterol Delta (14)-reductase) (C-14 sterol reductase) (C14SR) (Integral nuclear envelope inner membrane protein) (LMN2R) (Lamin-B receptor) (Sterol C14-reductase)
• Protein function: Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role i
• PDB: 2DIG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09465	LBR_tudor	1 → 55	Lamin-B receptor of TUDOR domain	Domain
  PF01222	ERG4_ERG24	183 → 615	Ergosterol biosynthesis ERG4/ERG24 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus (PubMed:16784888). Expressed in osteoclasts and osteoblast-like cells (PubMed:21327084). {ECO:0000269|PubMed:16784888, ECO:0000269|PubMed:21327084}.
• Sequence:

  MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF
  RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL
  ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI
  DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL
  LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
  AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS
  SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
  ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN
  EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW
  GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
  KYCQRVPYRIFPYIY

• Sequence length: 615

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways
Cytoskeleton in muscle cells

Reactome:

Cholesterol biosynthesis
Initiation of Nuclear Envelope (NE) Reformation
Regulation of MECP2 expression and activity

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
Acute myeloid leukemia	Pathogenic	rs374343844	RCV005893843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	Pathogenic	rs374343844, rs869312905	RCV000210471 RCV000210455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Greenberg dysplasia	Likely pathogenic; Pathogenic	rs587777171, rs587777172, rs863223326, rs886037655, rs2150958142, rs2150945343, rs374343844, rs869312905, rs387906416, rs754049402, rs573510559	RCV000087263 RCV000087264 RCV000087265 RCV000087267 RCV001824087 RCV001824088 RCV001250665 RCV001250666 RCV000010137 RCV005860087 RCV003163026	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs754049402, rs1236962991	RCV000516056 RCV000515924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LBR-related disorder	Pathogenic; Likely pathogenic	rs374343844, rs2527778968, rs754049402	RCV004530256 RCV004534269 RCV003987561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs587777171, rs863223326, rs1363715209, rs886037616, rs886037617, rs387906416, rs886037618, rs137852606, rs573510559	RCV001197988 RCV000087266 RCV002221980 RCV000010135 RCV000010136 RCV000087262 RCV000010139 RCV000010140 RCV001836859	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Regressive spondylometaphyseal dysplasia	Likely pathogenic; Pathogenic	rs754049402, rs573510559	RCV001330715 RCV000656653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Pathogenic; Likely pathogenic	rs374343844, rs573510559	RCV001330716 RCV004796263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY	Pathogenic; Likely pathogenic	rs374343844, rs869312905, rs886037616, rs587777172, rs1131691304, rs1558655670	RCV002284375 RCV002284376 RCV001824015 RCV001836611 RCV001836612 RCV001824058	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RETROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELGER-HUET ANOMALY	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	6860788		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	2433024		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	3855375		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	3216675		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7273456		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	3855375		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	3871351		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	6603318		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22947906		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29466680		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	6862436		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22947906		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31660940		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27483354		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	25887498		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	6608403		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	6161726		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	18268096, 25887498		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	15294093, 6303556		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	25348816	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	25348816		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28529954		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10589784		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12239181, 2210879, 24293108, 8972253		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24293108, 27246191, 30484986	Associate	★☆☆☆☆ Found in Text Mining only
Calcification of trachea	Calcification Of Trachea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis cutis	Calcinosis cutis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	1386525		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28529954		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	3917367		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	3855375		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10087947, 3971336		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8947526		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28359236		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	17893117		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	314782, 7203468		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	12490533, 17403717		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15007355		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26489030	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10433077	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10433077, 8971540		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29247708, 31317621		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	1372684		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15007355		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31059860		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	11393540		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23983432		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29444930, 30488111		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29444930		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	2785227	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	12239181		★☆☆☆☆ Found in Text Mining only
Greenberg dysplasia	Greenberg Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	14568967		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	BEFREE	12618959, 16784888, 17403717, 18621876, 21327084, 23824842, 25348816, 27336722, 28858257, 30448303, 30561119		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	GENOMICS_ENGLAND_DG	12618959, 23824842, 29068549, 8213919		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	UNIPROT_DG	12618959, 21327084, 27336722		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	CLINVAR_DG	18382993, 21327084, 27336722, 27830109		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	ORPHANET_DG	21327084		★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hepatic calcification	Hepatic calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19940018, 30518689	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	806230		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29722329		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	12490533, 17403717		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28800037		★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal calcification	Laryngeal calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18268096, 19959093, 3495499, 8435662		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2460160	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	6978742	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	3857945, 6932979	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	3855375, 3857945, 6950804		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	3871351, 6978433		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	3162188		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25643258		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	2942252	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27483354		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27483354		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27483354, 3263937		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27483354		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2210879, 24589677		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10087947		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10087947		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27266510	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12239181, 2210879, 24293108, 8972253		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	8947526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28155149, 29695737		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16818708, 18717644, 27760841, 29297149, 29415520, 6608403, 7273456		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	8947526		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	16046620	Associate	★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	26350264		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20026273, 22704958, 23344158		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35883595	Associate	★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	GENOMICS_ENGLAND_DG	29068549		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	3788975		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30311143		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	26209886		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	3664530	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	2510455, 26209886, 27705922, 7722338		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	27611715		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11746991, 2579728, 3855375		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11943343, 18381964, 18717644, 20423997, 24293108, 2777256, 29402727, 30689164		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29902282		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	1424240		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	1424240		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33958580	Associate	★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30689164		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32316379	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	8947526		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21103616		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	12118250, 12490533, 12618959, 14617022, 16007606, 18621876, 21103616, 21327094, 22338047, 23824842, 27336722, 27684937, 28128887, 28858257, 30448303, 30561119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelger-Huet Anomaly	Pelger-Huet Anomaly	LHGDN	12118250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelger-Huet Anomaly	Pelger-Huet Anomaly	UNIPROT_DG	14617022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelger-Huet Anomaly	Pelger-Huet Anomaly	GENOMICS_ENGLAND_DG	23824842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelger-Huet Anomaly	Pelger-Huet Anomaly	CLINVAR_DG	26938784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelger-Huet Anomaly	Pelger-Huet Anomaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	Regressive spondylometaphyseal dysplasia	GENOMICS_ENGLAND_DG	12490533, 23824842		★☆☆☆☆ Found in Text Mining only
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	Regressive spondylometaphyseal dysplasia	CLINGEN_DG	12490533, 19940018, 21327105, 23824842, 25348816		★☆☆☆☆ Found in Text Mining only
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	Regressive spondylometaphyseal dysplasia	ORPHANET_DG	23824842, 25348816		★☆☆☆☆ Found in Text Mining only
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	Regressive spondylometaphyseal dysplasia	UNIPROT_DG	23824842, 25348816		★☆☆☆☆ Found in Text Mining only
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	Regressive spondylometaphyseal dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	6432916	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	29068549		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	29081010		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28155149, 29695737		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	31301676		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	28286461	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regressive spondylometaphyseal dysplasia	Regressive spondylometaphyseal dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett Syndrome	BEFREE	9184319		★☆☆☆☆ Found in Text Mining only
Reynolds syndrome	Reynolds Syndrome	BEFREE	20522425		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	UNIPROT_DG	20522425		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	ORPHANET_DG	20522425		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	GENOMICS_ENGLAND_DG	23824842		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reynolds syndrome	Reynolds Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30714436		★☆☆☆☆ Found in Text Mining only
Rhinitis, Allergic, Perennial	Rhinitis	BEFREE	6603318		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	GENOMICS_ENGLAND_DG	29068549		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerodactyly	Sclerodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	19645629		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	2210879		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	22664165, 2497184		★☆☆☆☆ Found in Text Mining only
Severe short-limb dwarfism	Short-Limb Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	7656210		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	8755934		★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	668717		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31168300		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	BEFREE	25348816, 30561119		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	8755934		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	8755934		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19645629		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21103616	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	31020317		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	2295840		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	30962012		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	11433390		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	2921029		★☆☆☆☆ Found in Text Mining only