ATRX (ATRX chromatin remodeler)

Gene

• Entrez ID: 546
• Gene name: ATRX chromatin remodeler
• Gene symbol: ATRX
• Synonyms (NCBI Gene): JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX
• Chromosome: X
• Chromosome location: Xq21.1
• Summary: The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45439799	T>C,G	Likely-benign, pathogenic, benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445093	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445094	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445095	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs122445096	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445097	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445098	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445099	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs122445100	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs122445101	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445102	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445103	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445104	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445105	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445106	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445107	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs122445108	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs122445109	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445110	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs122445111	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122445112	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142180002	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142561199	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs145678415	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs145807475	T>G	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs146521598	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149232501	C>A,G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149249195	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200420513	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200478641	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs370596323	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371580333	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs398123420	T>C	Pathogenic	Splice acceptor variant
rs398123422	C>T	Pathogenic	Splice donor variant
rs398123424	TTTGAGATTTTC>A	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs398123425	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123428	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs587776756	C>T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs587780285	A>G,T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs587780288	CTT>-	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, inframe deletion, coding sequence variant
rs781984385	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs782317502	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs797044563	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044723	AT>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs797044865	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045406	TCATCT>-	Uncertain-significance, pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs886039493	C>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs886041700	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041903	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886044898	C>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs1057517707	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057517948	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057517997	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057518225	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1057518708	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057524153	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060499658	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060499759	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060499760	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795090	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135401793	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1287383551	C>A,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1557034957	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1557082399	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1557106482	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557106484	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557118764	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1557142844	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557148369	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1569513017	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1569513021	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569515457	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569533321	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569535642	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs1569539477	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602876401	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602979414	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602996115	A>C	Pathogenic	Intron variant
rs1603240572	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005165	hsa-miR-30a-5p	pSILAC	18668040
MIRT005165	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT030808	hsa-miR-21-5p	Microarray	18591254
MIRT050897	hsa-miR-17-5p	CLASH	23622248
MIRT043383	hsa-miR-331-3p	CLASH	23622248
MIRT040139	hsa-miR-615-3p	CLASH	23622248
MIRT038203	hsa-miR-342-5p	CLASH	23622248
MIRT054552	hsa-miR-200c-3p	Western blot, qRT-PCR	23708087
MIRT054552	hsa-miR-200c-3p	Western blot, qRT-PCR	23708087
MIRT054552	hsa-miR-200c-3p	Western blot, qRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blot, qRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blot, qRT-PCR	23708087
MIRT054553	hsa-miR-200a-3p	Western blot, qRT-PCR	23708087
MIRT810544	hsa-miR-101	CLIP-seq
MIRT810545	hsa-miR-1253	CLIP-seq
MIRT810546	hsa-miR-1255a	CLIP-seq
MIRT810547	hsa-miR-1255b	CLIP-seq
MIRT810548	hsa-miR-1283	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT810551	hsa-miR-1303	CLIP-seq
MIRT810552	hsa-miR-139-5p	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT810554	hsa-miR-199a-3p	CLIP-seq
MIRT810555	hsa-miR-199b-3p	CLIP-seq
MIRT810556	hsa-miR-2054	CLIP-seq
MIRT810557	hsa-miR-2276	CLIP-seq
MIRT810558	hsa-miR-2278	CLIP-seq
MIRT810559	hsa-miR-23a	CLIP-seq
MIRT810560	hsa-miR-23b	CLIP-seq
MIRT810561	hsa-miR-23c	CLIP-seq
MIRT810562	hsa-miR-25	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810564	hsa-miR-3129-5p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT810566	hsa-miR-3185	CLIP-seq
MIRT810567	hsa-miR-32	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810569	hsa-miR-325	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT810571	hsa-miR-363	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT810575	hsa-miR-367	CLIP-seq
MIRT810576	hsa-miR-3673	CLIP-seq
MIRT810577	hsa-miR-374c	CLIP-seq
MIRT810578	hsa-miR-380	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810580	hsa-miR-3913-3p	CLIP-seq
MIRT810581	hsa-miR-3936	CLIP-seq
MIRT810582	hsa-miR-4282	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT810584	hsa-miR-4423-5p	CLIP-seq
MIRT810585	hsa-miR-4475	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810588	hsa-miR-4662a-3p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT810590	hsa-miR-4696	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT810592	hsa-miR-4747-5p	CLIP-seq
MIRT810593	hsa-miR-4774-3p	CLIP-seq
MIRT810594	hsa-miR-4778-5p	CLIP-seq
MIRT810595	hsa-miR-489	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT810597	hsa-miR-5096	CLIP-seq
MIRT810598	hsa-miR-515-5p	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT810606	hsa-miR-592	CLIP-seq
MIRT810607	hsa-miR-597	CLIP-seq
MIRT810608	hsa-miR-628-3p	CLIP-seq
MIRT810609	hsa-miR-655	CLIP-seq
MIRT810610	hsa-miR-888	CLIP-seq
MIRT810611	hsa-miR-891b	CLIP-seq
MIRT810612	hsa-miR-92a	CLIP-seq
MIRT810613	hsa-miR-92b	CLIP-seq
MIRT810614	hsa-miR-142-5p	CLIP-seq
MIRT810615	hsa-miR-4299	CLIP-seq
MIRT810616	hsa-miR-4456	CLIP-seq
MIRT810617	hsa-miR-548a-5p	CLIP-seq
MIRT810618	hsa-miR-548ab	CLIP-seq
MIRT810619	hsa-miR-548ak	CLIP-seq
MIRT810620	hsa-miR-548b-5p	CLIP-seq
MIRT810621	hsa-miR-548c-5p	CLIP-seq
MIRT810622	hsa-miR-548d-5p	CLIP-seq
MIRT810623	hsa-miR-548h	CLIP-seq
MIRT810624	hsa-miR-548i	CLIP-seq
MIRT810625	hsa-miR-548j	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT810627	hsa-miR-548l	CLIP-seq
MIRT810628	hsa-miR-548q	CLIP-seq
MIRT810629	hsa-miR-548w	CLIP-seq
MIRT810630	hsa-miR-548y	CLIP-seq
MIRT810631	hsa-miR-559	CLIP-seq
MIRT810632	hsa-miR-627	CLIP-seq
MIRT810633	hsa-miR-924	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT810548	hsa-miR-1283	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT1939579	hsa-miR-1305	CLIP-seq
MIRT1939580	hsa-miR-1323	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT1939582	hsa-miR-224	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT1939585	hsa-miR-3125	CLIP-seq
MIRT1939586	hsa-miR-3168	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT1939591	hsa-miR-330-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810580	hsa-miR-3913-3p	CLIP-seq
MIRT1939593	hsa-miR-3916	CLIP-seq
MIRT1939594	hsa-miR-409-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT1939597	hsa-miR-4328	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810585	hsa-miR-4475	CLIP-seq
MIRT1939599	hsa-miR-4653-3p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT1939600	hsa-miR-4704-3p	CLIP-seq
MIRT810592	hsa-miR-4747-5p	CLIP-seq
MIRT1939601	hsa-miR-4790-3p	CLIP-seq
MIRT810595	hsa-miR-489	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT1939602	hsa-miR-511	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT1939604	hsa-miR-548o	CLIP-seq
MIRT1939605	hsa-miR-606	CLIP-seq
MIRT1939606	hsa-miR-616	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT810610	hsa-miR-888	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT810545	hsa-miR-1253	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT810551	hsa-miR-1303	CLIP-seq
MIRT810553	hsa-miR-144	CLIP-seq
MIRT810554	hsa-miR-199a-3p	CLIP-seq
MIRT810555	hsa-miR-199b-3p	CLIP-seq
MIRT810558	hsa-miR-2278	CLIP-seq
MIRT810562	hsa-miR-25	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810564	hsa-miR-3129-5p	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2178823	hsa-miR-3153	CLIP-seq
MIRT810567	hsa-miR-32	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT810571	hsa-miR-363	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT810575	hsa-miR-367	CLIP-seq
MIRT2178825	hsa-miR-371-5p	CLIP-seq
MIRT2178826	hsa-miR-371b-5p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2178827	hsa-miR-3942-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT1939597	hsa-miR-4328	CLIP-seq
MIRT2178828	hsa-miR-4422	CLIP-seq
MIRT2178829	hsa-miR-4494	CLIP-seq
MIRT2178830	hsa-miR-4659a-5p	CLIP-seq
MIRT2178831	hsa-miR-4659b-5p	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2178832	hsa-miR-4668-5p	CLIP-seq
MIRT1939600	hsa-miR-4704-3p	CLIP-seq
MIRT2178833	hsa-miR-4716-5p	CLIP-seq
MIRT2178834	hsa-miR-4722-5p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT1939601	hsa-miR-4790-3p	CLIP-seq
MIRT2178837	hsa-miR-4796-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2178838	hsa-miR-499a-5p	CLIP-seq
MIRT810597	hsa-miR-5096	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810627	hsa-miR-548l	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT2178841	hsa-miR-570	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT810612	hsa-miR-92a	CLIP-seq
MIRT810613	hsa-miR-92b	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810576	hsa-miR-3673	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT2482327	hsa-miR-1243	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT2482328	hsa-miR-1272	CLIP-seq
MIRT2482329	hsa-miR-1278	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT2482330	hsa-miR-1297	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT1939580	hsa-miR-1323	CLIP-seq
MIRT2482331	hsa-miR-147	CLIP-seq
MIRT2482332	hsa-miR-181a	CLIP-seq
MIRT2482333	hsa-miR-181b	CLIP-seq
MIRT2482334	hsa-miR-181c	CLIP-seq
MIRT2482335	hsa-miR-181d	CLIP-seq
MIRT2482336	hsa-miR-185	CLIP-seq
MIRT2482337	hsa-miR-2053	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT2482338	hsa-miR-218	CLIP-seq
MIRT2482339	hsa-miR-219-2-3p	CLIP-seq
MIRT2482340	hsa-miR-26a	CLIP-seq
MIRT2482341	hsa-miR-26b	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT2482342	hsa-miR-298	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT2482343	hsa-miR-3065-3p	CLIP-seq
MIRT2482344	hsa-miR-3129-3p	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2482345	hsa-miR-3157-3p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT2482346	hsa-miR-3190	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2482347	hsa-miR-340	CLIP-seq
MIRT2482348	hsa-miR-3607-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT2482349	hsa-miR-3647-3p	CLIP-seq
MIRT810572	hsa-miR-3653	CLIP-seq
MIRT810573	hsa-miR-3658	CLIP-seq
MIRT810574	hsa-miR-3662	CLIP-seq
MIRT2482350	hsa-miR-3678-3p	CLIP-seq
MIRT2482351	hsa-miR-3682-3p	CLIP-seq
MIRT2482352	hsa-miR-3688-3p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2482353	hsa-miR-3908	CLIP-seq
MIRT2482354	hsa-miR-3911	CLIP-seq
MIRT2482355	hsa-miR-410	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT2482356	hsa-miR-4262	CLIP-seq
MIRT2482357	hsa-miR-4276	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT2482358	hsa-miR-4302	CLIP-seq
MIRT2482359	hsa-miR-4306	CLIP-seq
MIRT2482360	hsa-miR-4307	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT2482361	hsa-miR-4434	CLIP-seq
MIRT2482362	hsa-miR-4455	CLIP-seq
MIRT2482363	hsa-miR-4465	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT2482364	hsa-miR-4496	CLIP-seq
MIRT2482365	hsa-miR-450b-5p	CLIP-seq
MIRT2482366	hsa-miR-4516	CLIP-seq
MIRT2482367	hsa-miR-4517	CLIP-seq
MIRT2482368	hsa-miR-4524	CLIP-seq
MIRT2482369	hsa-miR-4531	CLIP-seq
MIRT2482370	hsa-miR-4644	CLIP-seq
MIRT2482371	hsa-miR-4646-5p	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2482372	hsa-miR-4690-5p	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT2482373	hsa-miR-4712-3p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2482374	hsa-miR-4738-3p	CLIP-seq
MIRT2482375	hsa-miR-4742-3p	CLIP-seq
MIRT2482376	hsa-miR-4742-5p	CLIP-seq
MIRT2482377	hsa-miR-4755-3p	CLIP-seq
MIRT2482378	hsa-miR-4760-3p	CLIP-seq
MIRT2482379	hsa-miR-4768-3p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2482380	hsa-miR-507	CLIP-seq
MIRT1939602	hsa-miR-511	CLIP-seq
MIRT2482381	hsa-miR-513a-3p	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2482382	hsa-miR-517a	CLIP-seq
MIRT2482383	hsa-miR-517c	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT2482384	hsa-miR-545	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810617	hsa-miR-548a-5p	CLIP-seq
MIRT810618	hsa-miR-548ab	CLIP-seq
MIRT810619	hsa-miR-548ak	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810620	hsa-miR-548b-5p	CLIP-seq
MIRT810621	hsa-miR-548c-5p	CLIP-seq
MIRT810622	hsa-miR-548d-5p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT2482385	hsa-miR-548g	CLIP-seq
MIRT810623	hsa-miR-548h	CLIP-seq
MIRT810624	hsa-miR-548i	CLIP-seq
MIRT810625	hsa-miR-548j	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT1939604	hsa-miR-548o	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT2482386	hsa-miR-548t	CLIP-seq
MIRT810629	hsa-miR-548w	CLIP-seq
MIRT810630	hsa-miR-548y	CLIP-seq
MIRT2482387	hsa-miR-557	CLIP-seq
MIRT810631	hsa-miR-559	CLIP-seq
MIRT2482388	hsa-miR-576-3p	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT2482389	hsa-miR-636	CLIP-seq
MIRT2482390	hsa-miR-644	CLIP-seq
MIRT2482391	hsa-miR-665	CLIP-seq
MIRT2482392	hsa-miR-7	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT2482393	hsa-miR-767-5p	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT2482394	hsa-miR-944	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT810601	hsa-miR-548a-3p	CLIP-seq
MIRT810603	hsa-miR-548e	CLIP-seq
MIRT810604	hsa-miR-548f	CLIP-seq
MIRT2675764	hsa-miR-1236	CLIP-seq
MIRT1939578	hsa-miR-1264	CLIP-seq
MIRT2482328	hsa-miR-1272	CLIP-seq
MIRT2482329	hsa-miR-1278	CLIP-seq
MIRT810549	hsa-miR-1284	CLIP-seq
MIRT2482330	hsa-miR-1297	CLIP-seq
MIRT810550	hsa-miR-1302	CLIP-seq
MIRT2482331	hsa-miR-147	CLIP-seq
MIRT2482332	hsa-miR-181a	CLIP-seq
MIRT2482333	hsa-miR-181b	CLIP-seq
MIRT2482334	hsa-miR-181c	CLIP-seq
MIRT2482335	hsa-miR-181d	CLIP-seq
MIRT2482336	hsa-miR-185	CLIP-seq
MIRT2675765	hsa-miR-186	CLIP-seq
MIRT2482337	hsa-miR-2053	CLIP-seq
MIRT1939581	hsa-miR-214	CLIP-seq
MIRT2482338	hsa-miR-218	CLIP-seq
MIRT2482339	hsa-miR-219-2-3p	CLIP-seq
MIRT2482340	hsa-miR-26a	CLIP-seq
MIRT2482341	hsa-miR-26b	CLIP-seq
MIRT1939583	hsa-miR-27a	CLIP-seq
MIRT1939584	hsa-miR-27b	CLIP-seq
MIRT2482342	hsa-miR-298	CLIP-seq
MIRT810563	hsa-miR-300	CLIP-seq
MIRT2482343	hsa-miR-3065-3p	CLIP-seq
MIRT1939585	hsa-miR-3125	CLIP-seq
MIRT2178822	hsa-miR-3133	CLIP-seq
MIRT2482345	hsa-miR-3157-3p	CLIP-seq
MIRT810565	hsa-miR-3163	CLIP-seq
MIRT2482346	hsa-miR-3190	CLIP-seq
MIRT1939587	hsa-miR-320a	CLIP-seq
MIRT1939588	hsa-miR-320b	CLIP-seq
MIRT1939589	hsa-miR-320c	CLIP-seq
MIRT1939590	hsa-miR-320d	CLIP-seq
MIRT810568	hsa-miR-323-3p	CLIP-seq
MIRT810570	hsa-miR-338-5p	CLIP-seq
MIRT2482347	hsa-miR-340	CLIP-seq
MIRT2482348	hsa-miR-3607-5p	CLIP-seq
MIRT2178824	hsa-miR-3613-3p	CLIP-seq
MIRT1939592	hsa-miR-3619-5p	CLIP-seq
MIRT2482349	hsa-miR-3647-3p	CLIP-seq
MIRT2482350	hsa-miR-3678-3p	CLIP-seq
MIRT2482351	hsa-miR-3682-3p	CLIP-seq
MIRT810579	hsa-miR-381	CLIP-seq
MIRT2482353	hsa-miR-3908	CLIP-seq
MIRT2482354	hsa-miR-3911	CLIP-seq
MIRT1939593	hsa-miR-3916	CLIP-seq
MIRT2178827	hsa-miR-3942-3p	CLIP-seq
MIRT1939595	hsa-miR-412	CLIP-seq
MIRT2675766	hsa-miR-4257	CLIP-seq
MIRT2482356	hsa-miR-4262	CLIP-seq
MIRT1939596	hsa-miR-4291	CLIP-seq
MIRT810583	hsa-miR-4298	CLIP-seq
MIRT2482359	hsa-miR-4306	CLIP-seq
MIRT2482360	hsa-miR-4307	CLIP-seq
MIRT1939598	hsa-miR-4429	CLIP-seq
MIRT2482361	hsa-miR-4434	CLIP-seq
MIRT2482362	hsa-miR-4455	CLIP-seq
MIRT2482363	hsa-miR-4465	CLIP-seq
MIRT810586	hsa-miR-4491	CLIP-seq
MIRT2482364	hsa-miR-4496	CLIP-seq
MIRT2482365	hsa-miR-450b-5p	CLIP-seq
MIRT2482366	hsa-miR-4516	CLIP-seq
MIRT2482368	hsa-miR-4524	CLIP-seq
MIRT2482369	hsa-miR-4531	CLIP-seq
MIRT2482370	hsa-miR-4644	CLIP-seq
MIRT2482371	hsa-miR-4646-5p	CLIP-seq
MIRT810587	hsa-miR-4657	CLIP-seq
MIRT810589	hsa-miR-4666-3p	CLIP-seq
MIRT2675767	hsa-miR-4676-5p	CLIP-seq
MIRT2675768	hsa-miR-4687-3p	CLIP-seq
MIRT2482372	hsa-miR-4690-5p	CLIP-seq
MIRT810591	hsa-miR-4698	CLIP-seq
MIRT2482373	hsa-miR-4712-3p	CLIP-seq
MIRT2178835	hsa-miR-4727-5p	CLIP-seq
MIRT2482374	hsa-miR-4738-3p	CLIP-seq
MIRT2482376	hsa-miR-4742-5p	CLIP-seq
MIRT2675769	hsa-miR-4744	CLIP-seq
MIRT2675770	hsa-miR-4753-3p	CLIP-seq
MIRT2482377	hsa-miR-4755-3p	CLIP-seq
MIRT2675771	hsa-miR-4759	CLIP-seq
MIRT2482378	hsa-miR-4760-3p	CLIP-seq
MIRT2482379	hsa-miR-4768-3p	CLIP-seq
MIRT2178836	hsa-miR-4769-3p	CLIP-seq
MIRT2675772	hsa-miR-4778-3p	CLIP-seq
MIRT2675773	hsa-miR-4786-3p	CLIP-seq
MIRT2675774	hsa-miR-4789-5p	CLIP-seq
MIRT810596	hsa-miR-494	CLIP-seq
MIRT2482380	hsa-miR-507	CLIP-seq
MIRT2482381	hsa-miR-513a-3p	CLIP-seq
MIRT1939603	hsa-miR-513a-5p	CLIP-seq
MIRT2482382	hsa-miR-517a	CLIP-seq
MIRT2482383	hsa-miR-517c	CLIP-seq
MIRT810599	hsa-miR-520d-5p	CLIP-seq
MIRT2178839	hsa-miR-522	CLIP-seq
MIRT810600	hsa-miR-524-5p	CLIP-seq
MIRT2482384	hsa-miR-545	CLIP-seq
MIRT810602	hsa-miR-548an	CLIP-seq
MIRT810626	hsa-miR-548k	CLIP-seq
MIRT2178840	hsa-miR-548n	CLIP-seq
MIRT810605	hsa-miR-548p	CLIP-seq
MIRT2482386	hsa-miR-548t	CLIP-seq
MIRT2482387	hsa-miR-557	CLIP-seq
MIRT2675775	hsa-miR-575	CLIP-seq
MIRT2482388	hsa-miR-576-3p	CLIP-seq
MIRT2178842	hsa-miR-590-3p	CLIP-seq
MIRT2482389	hsa-miR-636	CLIP-seq
MIRT2482390	hsa-miR-644	CLIP-seq
MIRT2482391	hsa-miR-665	CLIP-seq
MIRT2482392	hsa-miR-7	CLIP-seq
MIRT1939607	hsa-miR-761	CLIP-seq
MIRT2482393	hsa-miR-767-5p	CLIP-seq
MIRT2441979	hsa-miR-873	CLIP-seq
MIRT1939608	hsa-miR-922	CLIP-seq
MIRT2482394	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000212	Process	Meiotic spindle organization	IEA
GO:0000228	Component	Nuclear chromosome	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0000792	Component	Heterochromatin	IEA
GO:0000792	Component	Heterochromatin	TAS	10570185
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	27029610
GO:0003682	Function	Chromatin binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10699177, 12953102, 17296936, 22102817, 22391447, 24651726, 24981860, 25417162, 26373281, 26496610, 27029610, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7874112
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005721	Component	Pericentric heterochromatin	IBA
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005721	Component	Pericentric heterochromatin	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IMP	22391447
GO:0006334	Process	Nucleosome assembly	IDA	20651253
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	20651253
GO:0006338	Process	Chromatin remodeling	IMP	10742099, 27029610
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7697714
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010564	Process	Regulation of cell cycle process	IEA
GO:0010571	Process	Positive regulation of nuclear cell cycle DNA replication	IEA
GO:0010571	Process	Positive regulation of nuclear cell cycle DNA replication	ISS
GO:0015616	Function	DNA translocase activity	IDA	12953102
GO:0016604	Component	Nuclear body	IDA
GO:0016604	Component	Nuclear body	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IEA
GO:0031297	Process	Replication fork processing	ISS
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031509	Process	Subtelomeric heterochromatin formation	IEA
GO:0031509	Process	Subtelomeric heterochromatin formation	IMP	26055325
GO:0031509	Process	Subtelomeric heterochromatin formation	ISS
GO:0032206	Process	Positive regulation of telomere maintenance	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	ISS
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0035128	Process	Post-embryonic forelimb morphogenesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042393	Function	Histone binding	IDA	20211137, 22391447
GO:0042393	Function	Histone binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22391447
GO:0046872	Function	Metal ion binding	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0062072	Function	Histone H3K9me2/3 reader activity	IDA	21421568
GO:0070087	Function	Chromo shadow domain binding	IPI	15882967
GO:0070192	Process	Chromosome organization involved in meiotic cell cycle	IEA
GO:0070198	Process	Protein localization to chromosome, telomeric region	IEA
GO:0070198	Process	Protein localization to chromosome, telomeric region	ISS
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0072711	Process	Cellular response to hydroxyurea	IEA
GO:0072711	Process	Cellular response to hydroxyurea	ISS
GO:0099115	Component	Chromosome, subtelomeric region	IDA	26055325
GO:1904908	Process	Negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	IMP	26373281

Other IDs

• MIM: 300032
• HGNC: 886
• e!Ensembl: ENSG00000085224

Protein

• UniProt ID: P46100
• Protein name: Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)
• Protein function: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both te
• PDB: 2JM1, 2LBM, 2LD1, 3QL9, 3QLA, 3QLC, 3QLN, 4W5A, 5GRQ, 5Y18, 5Y6O, 6G0O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17981	ADD_ATRX	158 → 213	Cysteine Rich ADD domain	Domain
  PF00176	SNF2_N	1536 → 1889	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	2018 → 2155	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS
  KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS
  LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH
  FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC
  KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV
  DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI
  ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
  DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT
  EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS
  SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPI
  KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK
  TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK
  QSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK
  RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR
  IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT
  IMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDG
  LSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLP
  EREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDK
  KSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNL
  SSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADI
  TSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD
  DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQV
  NSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSE
  DSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKS
  NSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEE
  EERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKL
  KPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFS
  TALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI
  IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRS
  RRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVM
  KKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNN
  SEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSM
  SLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVS
  LKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVF
  SQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE
  EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPV
  YVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNS
  EKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEA
  EKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATN
  SVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQM
  LISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMY
  QPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM

• Sequence length: 2492

Pathways

KEGG:

Cell cycle

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2148019913	RCV001814494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acquired hemoglobin H disease	Likely pathogenic; Pathogenic	rs1057521987, rs122445105, rs587776756, rs122445107, rs122445108	RCV005040305 RCV000763634 RCV000012506 RCV000012507 RCV004795394	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenal cortex carcinoma	Pathogenic	rs2148020083	RCV004813190	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic; Pathogenic	rs2067371776, rs2148657465, rs1557140492, rs2148685852, rs1057521987, rs2148019913, rs2148020083, rs2148260943, rs2148591494, rs2147761759, rs2148656473, rs891068548, rs2148259374, rs2520173058, rs2148623651, rs2148638603, rs122445093, rs122445094, rs122445095, rs122445096, rs122445097, rs122445098, rs122445099, rs122445100, rs2148261114, rs122445101, rs1569539477, rs122445103, rs122445105, rs122445104, rs122445106, rs122445108, rs122445111, rs2522399270, rs2147760387, rs2071246388, rs2519954454, rs1057523785, rs2148590668, rs2147950429, rs2519941830, rs2519910818, rs2520079176, rs2148338047, rs1057517707, rs1057517948, rs1057518708, rs1057524153, rs1060499658, rs1557106482, rs1569515457, rs1569535642, rs1569513017, rs1603240572, rs1602979414, rs1602996115, rs1602876401, rs2070034528, rs2071372283, rs1557041077, rs2070037318, rs2073481839, rs398123425	RCV001598686 RCV001379146 RCV001387072 RCV001384857 RCV001882566 RCV001824991 RCV003624466 RCV005412283 RCV001950675 RCV002037060 RCV002226570 RCV002238573 RCV002299866 RCV002863001 RCV003123392 RCV003148562 RCV000012487 RCV000012488 RCV000012489 RCV000012491 RCV000012492 RCV000012493 RCV000012494 RCV000012495 RCV000012496 RCV000199096 RCV000012499 RCV000012500 RCV000012501 RCV000012502 RCV000012505 RCV000148028 RCV001582475 RCV003397224 RCV003444076 RCV003512412 RCV003512393 RCV003513324 RCV003511802 RCV003624849 RCV003625171 RCV003625263 RCV003625625 RCV003988713 RCV003512036 RCV001197192 RCV000415467 RCV000990876 RCV000449558 RCV000659282 RCV000678967 RCV000679879 RCV001253308 RCV000850532 RCV000853395 RCV000856787 RCV000990873 RCV000990874 RCV001050907 RCV001039588 RCV001227108 RCV001235205 RCV001253201 RCV001255468 RCV001262503	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-thalassemia/intellectual disability syndrome	Likely pathogenic; Pathogenic	rs398123420	RCV004798771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATR-X-related syndrome	Pathogenic	rs1557140492	RCV004789566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRX-related disorder	Pathogenic; Likely pathogenic	rs122445099, rs122445101, rs122445106, rs2148260344, rs2148343613	RCV004532323 RCV004528102 RCV004734510 RCV004536734 RCV004528750	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1060499759, rs1569513017	RCV000454334 RCV000782267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs122445108	RCV000224314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-hypotonic facies syndrome, X-linked	Pathogenic; Likely pathogenic	rs122445101, rs122445102, rs1569513021, rs122445108, rs122445109, rs122445111, rs122445112	RCV000012497 RCV000012498 RCV000012503 RCV000012508 RCV000012509 RCV000012511 RCV000012512	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability-hypotonic facies syndrome, X-linked, 1	Likely pathogenic; Pathogenic	rs2067371776, rs1057521987, rs2148637532, rs2148260943, rs2519899305, rs2148090735, rs2148638603, rs2520122502, rs122445099, rs122445101, rs122445103, rs122445105, rs122445106, rs122445108, rs2520030124, rs2520135479, rs1057517707, rs1057517948, rs1603240572, rs2068193669, rs2071439399, rs398123425	RCV001329934 RCV005040305 RCV001806377 RCV003152772 RCV002465434 RCV002795908 RCV003148563 RCV003459814 RCV002283442 RCV000199096 RCV000197579 RCV000763634 RCV003128081 RCV000680146 RCV003989458 RCV004526292 RCV001775115 RCV002288984 RCV000785929 RCV000850532 RCV001252426 RCV001254172 RCV000850379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2519936481	RCV003991639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs1060499759	RCV000454334	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal hypotonia	Likely pathogenic	rs1057521987	RCV001526627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs1057523785, rs2071372283	RCV006274430 RCV004671303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renier-Gabreels-Jasper syndrome	Likely pathogenic; Pathogenic	rs122445105	RCV001249275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma, anaplastic	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATR-X SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical teratoid rhabdoid tumor	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
Glioblastoma multiforme, somatic	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BARTS HYDROPS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN H CONSTANT SPRING THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDH-wildtype glioblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine pancreatic tumor	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THORACIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE GENE DEFECT ALPHA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abdominal Cryptorchidism	Cryptorchidism	CTD_human_DG	19291773		★☆☆☆☆ Found in Text Mining only
Absent mastoid	Absent mastoid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	11449489		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27590521		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17957225, 30745338		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31374064, 31611308		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25608029, 26839173, 27209355		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33513905	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27590521		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	26210286, 28392842, 30611004		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	14592816, 17609377, 20602808, 22391447, 23104868, 23681356, 26017030, 26918938, 29044913, 29669917, 29706636, 30803555, 8644709	Associate	★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	11069290, 11449489, 12858175, 15613106, 16266892, 16480427, 18409179, 20110566, 21421568, 21505078, 22391447, 25925003, 26860117, 26997013, 29706636, 29725455, 8968741, 9043863		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	LHGDN	12858175, 14592816, 16537041		★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	BEFREE	12858175		★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	GENOMICS_ENGLAND_DG	16955409		★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alpha-thalassemia-myelodysplastic syndrome	Alpha-Thalassemia-Myelodysplastic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Alpha-thalassemia-X-linked intellectual disability syndrome	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	UNIPROT_DG	10204841, 10417298, 10660327, 10995512, 12116232, 14990586, 16955409, 21421568, 7697714, 8968741, 9043863, 9326931		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	10660327, 11449489, 11559911, 12673795, 14592816, 15508018, 16266892, 16376512, 16813605, 16955409, 17296936, 17579672, 17609377, 19005673, 19088125, 20110566, 21218045, 21252315, 21505078, 22089611, 22129561, 22886134, 23028133, 23104868, 23453691, 24458433, 24898829, 25936994, 25976463, 26860117, 26918938, 27456058, 28294389, 28371217, 29706636, 29785027, 29889582, 30649195, 30808951, 31115468, 31631027, 8968741		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	GENOMICS_ENGLAND_DG	16688741, 16722615, 16955409, 19444090, 7697714, 9598720		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	CLINVAR_DG	21505078, 8968741		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	11069290, 11449489, 12858175, 15613106, 16266892, 16480427, 18409179, 20110566, 21421568, 21505078, 22391447, 25925003, 26860117, 26997013, 29706636, 8968741, 9043863		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	23104868, 23708666, 23765250, 26055325, 26373281, 27407094, 27578458, 27663587, 28115389, 30226859, 31706351, 33128602, 34690007, 35953846, 36541551, 36689342	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	35227290	Inhibit	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30192422		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	Pubtator	30192422	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	24810474, 29550762		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	BEFREE	26918938		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	27696251		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	30803555	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	26997013	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22869205, 23765250, 24810474, 25257301, 25427834, 25991674, 26004297, 26210286, 26395639, 27469217, 28185325, 29973652, 30536195, 30592195, 30611004, 30963251		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22869205, 23765250, 23904111, 24810474, 25257301, 25853694, 25971279, 25991674, 28871469, 29077933, 29564591, 29973652, 30192422, 30536195, 31706351, 32619305, 32690110, 32771057, 34951647, 35511748, 36271929, 38272925	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	28392842, 30504574, 40514723	Inhibit	★☆☆☆☆ Found in Text Mining only
Atypical pulmonary carcinoid tumor	Pulmonary Carcinoid Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30392976	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23681356, 30755392	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25452430		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	35962714	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	25976463		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	25976463		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CTD_human_DG	19291773		★☆☆☆☆ Found in Text Mining only
Bilateral renal hypoplasia	Bilateral renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	36624117	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28371217, 28488024, 30539453		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28371217, 35017538, 36246555	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10463575		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38126976	Associate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25743702, 29669917, 33513905, 34951647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22251937, 28877067		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30051528, 30192422, 30281149, 36933012	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	25531179	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29509313, 36367018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28993028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31374064	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	21719641		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	21719641, 22829774, 23592488	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31742753		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27590521		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	26210286, 28392842, 30611004		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	31615936	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	28115389	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36624117	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39333335	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24002644		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24002644, 36520636, 36759506, 37394872	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	37629169	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	19291773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	CTD_human_DG	19291773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	23681356	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	38126976	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26646632, 28062559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	29706636, 30755392	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	24690944	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	26918938		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	36624117	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10398237, 10417298, 10570185, 10602370, 11015451, 11050622, 12032728, 12116232, 12673795, 12858175, 1415255, 16118346, 16722615, 16813605, 18409179, 19005673, 21653732, 24289169, 24805811, 28371197, 28371217		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	37350195	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	28040793, 29944970		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10632111		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26812616	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	25612765		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	26997013	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	20602808	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	29973652	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female infertility	Pubtator	30028779	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	26443480		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22829774, 22869205, 23592488, 23689370, 25427834, 26496030, 26817999, 26833422, 27579614, 29802247, 30085274, 30504574, 30635340, 30861589, 32678261, 33237934, 33642283, 33692446, 34899682, 35332262, 38003967, 38079020, 39208202, 39474960, 39684754, 40282990, 40514723	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22869205, 22886134, 24810474, 25427834, 26833422, 26936505, 28185325, 28674742, 28755323, 29063957, 29302887, 29521646, 29548052, 29550762, 29721688, 30010995, 31706351		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24810474, 26443480	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25427834, 26936505, 28185325, 29063957, 29302887, 29548052, 29721688, 30010995		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22869205, 22886134, 23104868, 24559763, 25971279, 26699864, 26833422, 26936505, 26968173, 28488024, 29034211, 29378238, 29404769, 29521646, 29545335, 29550762, 29550880, 29889582, 30226859, 30298540, 30655743, 30760578, 30808951, 31551363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	22869205, 23104868, 23904111, 24559763, 24810474, 25427834, 25971279, 26055325, 26061751, 26175411, 26210286, 26699864, 26833422, 26918938, 27834917, 28912153, 29545335, 29617666, 30226859, 30531922, 30536195, 31290679, 31706351, 32643682, 33128602, 34165590, 34690007, 34951647, 35354845, 35511748, 36123880, 36246555, 36689342, 36959422, 37311690, 37713468, 37891325, 38066546, 38272925, 38507506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	23583981, 24705251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	40514723	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	29706636		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart Defects Congenital	Congenital heart defect	Pubtator	22318994	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	14592816	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	14592816		★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	14592816, 16266892, 16376512, 30803555		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22240898		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31248429	Associate	★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	BEFREE	30803555		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10204841, 11015451, 1415255, 20602808, 21267006, 21666679, 25649377, 26918938, 28027854, 35962714, 8644709	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	10398234, 10632111, 11015451, 11069290, 11449489, 11559911, 12116232, 16100724, 16955409, 17296936, 19291773, 20602808, 21267006, 24130152, 24458433, 25936994, 25976463, 26646632, 26753516, 26860117, 28093507, 28600056, 29785027, 31713968, 8968741		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	16537041, 17296936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	25210493		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	CLINGEN_DG	10204841, 16955409, 17296936, 19088125, 20500465, 20865721, 24805811		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	UNIPROT_DG	10398237, 10751095, 11050622, 15565397, 16222662, 8630485		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	ORPHANET_DG	10398237, 11050622, 8630485		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	CLINVAR_DG	10632111		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	BEFREE	11449489, 31746429		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	GENOMICS_ENGLAND_DG	16722615, 7697714, 9598720, 9788563		★☆☆☆☆ Found in Text Mining only
Juberg-Marsidi syndrome	Juberg-Marsidi Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29321523, 32299819, 33115433, 38488807	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12953102, 17957225		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32011516	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	12953102	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	35672466	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	35672466	Associate	★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31551363		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lumbar scoliosis	Lumbar scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31374064	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27407094	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28823098		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	23583981, 24705251		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24559763, 30808951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10463575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31551363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	21252315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25418835		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10362365, 26646632, 27009842, 27407094, 29545335, 29706636, 29889582, 30226859, 30745338, 30970016, 31551363		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29796169		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	9192813		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30830680		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30028779, 31320640, 31647501, 35123773, 37629169	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental impairment	Mental Depression	BEFREE	26997013		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10398234, 10632111, 11015451, 11069290, 11449489, 11559911, 12116232, 16100724, 16955409, 17296936, 19291773, 20602808, 25976463, 26860117, 8968741		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental retardation Smith Fineman Myers type	Mental retardation	ORPHANET_DG	10751095		★☆☆☆☆ Found in Text Mining only
Mental retardation Smith Fineman Myers type	Mental retardation	BEFREE	11449489		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10398246, 11449489, 12673795, 16763962, 16813605, 17296936, 17503331, 17609377, 17957225, 19088125, 19291773, 20110566, 21218045, 21505078, 9244431		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	19291773		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31713968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	19291773		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	22286061		★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	33642283	Inhibit	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	10632111		★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	23583981, 24705251		★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	30611004		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	12116232		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10398237, 10417298, 10570185, 10602370, 11015451, 11050622, 12032728, 12116232, 12673795, 12858175, 1415255, 16118346, 16722615, 16813605, 18409179, 19005673, 21653732, 24289169, 24805811, 28371197, 28371217		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10398237, 10417298, 10570185, 10602370, 11015451, 11050622, 12032728, 12116232, 12673795, 12858175, 1415255, 16118346, 16722615, 16813605, 18409179, 19005673, 21653732, 24289169, 24805811, 28371197, 28371217		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23840053		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	28027854	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	12858175		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12858175, 14592816, 16266892, 16480427, 26017030, 30803555		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	14592816, 16537041		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	19157545		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	14592816, 19055664, 26017030, 30803555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10449612, 15056673, 21719641, 22286061, 22416102, 22886134, 23104868, 23765250, 24810474, 25257301, 25427834, 25487495, 25664944, 25853694, 25971279, 26014050, 26210286, 26373281, 26466568, 26699864, 26918938, 26936505, 26948350, 27209355, 27407094, 27456058, 27469217, 27556304, 28062559, 28115389, 28135248, 28255664, 28719461, 28776573, 28823044, 28880421, 28993028, 29084603, 29212165, 29302887, 29550880, 29564591, 29600313, 29721688, 30192422, 30611004, 30970016, 31248429, 31551363		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	11823444		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22367537, 24147068, 25487495, 25618849, 26466568, 28452859, 28546523, 31018240, 31290759, 31631027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	22367537, 22416102, 26466568, 27009842, 31018240, 31128432, 32275708, 33056981, 33465163, 33627664, 35384159, 35768791, 36675163, 37540673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	23334666, 26523776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	25612765		★☆☆☆☆ Found in Text Mining only
Neuroendocrine tumor of stomach	Neuroendocrine Tumor Of Stomach	Orphanet			★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	CTD_human_DG	21252315		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	22251937, 23840053, 24436263, 25210493, 27407094, 28591701, 28719461, 30081149		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	29796169		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	29796169		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29796169, 30531922, 30963251		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	30531922	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25418835		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	23104868, 25427834, 32690110, 34020723, 34165590	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	23904111	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	BEFREE	25257301, 26210286, 26833422, 28392842, 29027701, 30536195, 30611004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	37540673	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21310198, 27352193, 28371217, 29706636, 30214690		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24703847, 28371217, 29706636, 30872698, 32191290, 36073547	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37525498	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31607839		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	21252315		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22829774, 31160355, 31462556	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraganglioma	Paraganglioma	BEFREE	25608029, 27209355, 30301828		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10449612		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10449612		★☆☆☆☆ Found in Text Mining only
Penile Diseases	Penile Diseases	CTD_human_DG	19291773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	25608029		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	25608029, 39351526	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	27796734, 29564591, 30192422, 30499772		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	BEFREE	29063957		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	31225581		★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	BEFREE	30460199		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	32203094, 33106857	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	26414224		★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	28027854	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	31319423		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	BEFREE	22869205		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31611308	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	21077755		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29044913		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	31180492		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	17296936		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21501635, 29100075, 30970016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	29100075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	24453968	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36246555	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	10742099, 11823444, 22129561		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31374064	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25418835		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33678158	Associate	★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	29973652		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29100075		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	26055325, 27663587, 29545335, 29802247, 30081149	Associate	★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic Diseases	CTD_human_DG	19291773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroglossal Cyst	Thyroglossal Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21666679, 27130160		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	CTD_human_DG	19291773		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	15350606, 16813605		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	20602808	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33096476	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	30315258	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25257301, 26210286, 26833422, 28392842, 29027701, 30536195, 30611004		★☆☆☆☆ Found in Text Mining only
Zollinger-Ellison syndrome	Zollinger-Ellison syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only