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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55252
Gene name	ASXL transcriptional regulator 2
Gene symbol	ASXL2
Synonyms (NCBI Gene)	ASXH2SHAPNS
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886041065	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041066	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886041067	GTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041068	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041069	TCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041070	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553690979	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553691555	G>-	Pathogenic	Stop gained, coding sequence variant
rs1574391468	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1574395471	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574395479	T>A	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000819	hsa-miR-15a-5p	Microarray	18362358
MIRT000818	hsa-miR-16-5p	Microarray	18362358
MIRT046874	hsa-miR-221-3p	CLASH	23622248
MIRT044010	hsa-miR-378a-5p	CLASH	23622248
MIRT043632	hsa-miR-326	CLASH	23622248
MIRT037979	hsa-miR-502-3p	CLASH	23622248
MIRT705499	hsa-miR-6512-5p	HITS-CLIP	23313552
MIRT705498	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT705497	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT705496	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT705495	hsa-miR-5002-5p	HITS-CLIP	23313552
MIRT705494	hsa-miR-3663-3p	HITS-CLIP	23313552
MIRT705493	hsa-miR-767-5p	HITS-CLIP	23313552
MIRT705492	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT705491	hsa-miR-6090	HITS-CLIP	23313552
MIRT705490	hsa-miR-4300	HITS-CLIP	23313552
MIRT705489	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT705488	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT705487	hsa-miR-920	HITS-CLIP	23313552
MIRT705486	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT705485	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT705484	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT705483	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT705482	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT705481	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT705480	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT705479	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT705478	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT705477	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT705476	hsa-miR-3689c	HITS-CLIP	23313552
MIRT705475	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT705474	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT705473	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT705472	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT705471	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT705470	hsa-miR-3122	HITS-CLIP	23313552
MIRT705469	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT705468	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT705467	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT543628	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT543627	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT543626	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT543625	hsa-miR-26b-3p	PAR-CLIP	21572407
MIRT377046	hsa-miR-544a	PAR-CLIP	21572407
MIRT119786	hsa-miR-4495	PAR-CLIP	22100165
MIRT442952	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442951	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442950	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT705499	hsa-miR-6512-5p	HITS-CLIP	23313552
MIRT705498	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT705497	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT705496	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT705495	hsa-miR-5002-5p	HITS-CLIP	23313552
MIRT705494	hsa-miR-3663-3p	HITS-CLIP	23313552
MIRT705493	hsa-miR-767-5p	HITS-CLIP	23313552
MIRT705492	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT705491	hsa-miR-6090	HITS-CLIP	23313552
MIRT705490	hsa-miR-4300	HITS-CLIP	23313552
MIRT705489	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT705488	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT705487	hsa-miR-920	HITS-CLIP	23313552
MIRT705486	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT705485	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT705484	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT705483	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT705482	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT705481	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT705480	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT705479	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT705478	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT705477	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT705476	hsa-miR-3689c	HITS-CLIP	23313552
MIRT705475	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT705474	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT705473	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT705472	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT705471	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT705470	hsa-miR-3122	HITS-CLIP	23313552
MIRT705469	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT705468	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT705467	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT543628	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT543627	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT543626	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT543625	hsa-miR-26b-3p	PAR-CLIP	21572407
MIRT377046	hsa-miR-544a	PAR-CLIP	21572407
MIRT119786	hsa-miR-4495	PAR-CLIP	22100165
MIRT442952	hsa-miR-6830-3p	PAR-CLIP	22100165
MIRT442951	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT442950	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT803551	hsa-miR-1207-5p	CLIP-seq
MIRT803552	hsa-miR-1208	CLIP-seq
MIRT803553	hsa-miR-1256	CLIP-seq
MIRT803554	hsa-miR-125a-5p	CLIP-seq
MIRT803555	hsa-miR-125b	CLIP-seq
MIRT803556	hsa-miR-1266	CLIP-seq
MIRT803557	hsa-miR-130a	CLIP-seq
MIRT803558	hsa-miR-130b	CLIP-seq
MIRT803559	hsa-miR-1323	CLIP-seq
MIRT803560	hsa-miR-181a	CLIP-seq
MIRT803561	hsa-miR-181b	CLIP-seq
MIRT803562	hsa-miR-181c	CLIP-seq
MIRT803563	hsa-miR-181d	CLIP-seq
MIRT803564	hsa-miR-1909	CLIP-seq
MIRT803565	hsa-miR-194	CLIP-seq
MIRT803566	hsa-miR-19a	CLIP-seq
MIRT803567	hsa-miR-19b	CLIP-seq
MIRT803568	hsa-miR-205	CLIP-seq
MIRT803569	hsa-miR-299-3p	CLIP-seq
MIRT803570	hsa-miR-301a	CLIP-seq
MIRT803571	hsa-miR-301b	CLIP-seq
MIRT803572	hsa-miR-302a	CLIP-seq
MIRT803573	hsa-miR-302b	CLIP-seq
MIRT803574	hsa-miR-302c	CLIP-seq
MIRT803575	hsa-miR-302d	CLIP-seq
MIRT803576	hsa-miR-302e	CLIP-seq
MIRT803577	hsa-miR-3124-3p	CLIP-seq
MIRT803578	hsa-miR-3127-5p	CLIP-seq
MIRT803579	hsa-miR-3153	CLIP-seq
MIRT803580	hsa-miR-3192	CLIP-seq
MIRT803581	hsa-miR-3664-3p	CLIP-seq
MIRT803582	hsa-miR-3666	CLIP-seq
MIRT803583	hsa-miR-3684	CLIP-seq
MIRT803584	hsa-miR-3688-5p	CLIP-seq
MIRT803585	hsa-miR-372	CLIP-seq
MIRT803586	hsa-miR-373	CLIP-seq
MIRT803587	hsa-miR-374c	CLIP-seq
MIRT803588	hsa-miR-3918	CLIP-seq
MIRT803589	hsa-miR-4262	CLIP-seq
MIRT803590	hsa-miR-4287	CLIP-seq
MIRT803591	hsa-miR-4295	CLIP-seq
MIRT803592	hsa-miR-4319	CLIP-seq
MIRT803593	hsa-miR-4325	CLIP-seq
MIRT803594	hsa-miR-4420	CLIP-seq
MIRT803595	hsa-miR-4422	CLIP-seq
MIRT803596	hsa-miR-4436b-3p	CLIP-seq
MIRT803597	hsa-miR-4490	CLIP-seq
MIRT803598	hsa-miR-4518	CLIP-seq
MIRT803599	hsa-miR-454	CLIP-seq
MIRT803600	hsa-miR-4648	CLIP-seq
MIRT803601	hsa-miR-4651	CLIP-seq
MIRT803602	hsa-miR-4654	CLIP-seq
MIRT803603	hsa-miR-4668-3p	CLIP-seq
MIRT803604	hsa-miR-4668-5p	CLIP-seq
MIRT803605	hsa-miR-4675	CLIP-seq
MIRT803606	hsa-miR-4684-3p	CLIP-seq
MIRT803607	hsa-miR-4685-3p	CLIP-seq
MIRT803608	hsa-miR-4710	CLIP-seq
MIRT803609	hsa-miR-4719	CLIP-seq
MIRT803610	hsa-miR-4728-5p	CLIP-seq
MIRT803611	hsa-miR-4732-3p	CLIP-seq
MIRT803612	hsa-miR-4741	CLIP-seq
MIRT803613	hsa-miR-4763-3p	CLIP-seq
MIRT803614	hsa-miR-4769-5p	CLIP-seq
MIRT803615	hsa-miR-4778-5p	CLIP-seq
MIRT803616	hsa-miR-4788	CLIP-seq
MIRT803617	hsa-miR-4792	CLIP-seq
MIRT803618	hsa-miR-519a	CLIP-seq
MIRT803619	hsa-miR-519b-3p	CLIP-seq
MIRT803620	hsa-miR-519c-3p	CLIP-seq
MIRT803621	hsa-miR-520a-3p	CLIP-seq
MIRT803622	hsa-miR-520b	CLIP-seq
MIRT803623	hsa-miR-520c-3p	CLIP-seq
MIRT803624	hsa-miR-520d-3p	CLIP-seq
MIRT803625	hsa-miR-520e	CLIP-seq
MIRT803626	hsa-miR-548c-3p	CLIP-seq
MIRT803627	hsa-miR-548g	CLIP-seq
MIRT803628	hsa-miR-548o	CLIP-seq
MIRT803629	hsa-miR-574-5p	CLIP-seq
MIRT803630	hsa-miR-582-3p	CLIP-seq
MIRT803631	hsa-miR-605	CLIP-seq
MIRT803632	hsa-miR-608	CLIP-seq
MIRT803633	hsa-miR-615-5p	CLIP-seq
MIRT803634	hsa-miR-655	CLIP-seq
MIRT803635	hsa-miR-670	CLIP-seq
MIRT1937289	hsa-miR-101	CLIP-seq
MIRT1937290	hsa-miR-1178	CLIP-seq
MIRT1937291	hsa-miR-1205	CLIP-seq
MIRT803551	hsa-miR-1207-5p	CLIP-seq
MIRT803552	hsa-miR-1208	CLIP-seq
MIRT1937292	hsa-miR-1236	CLIP-seq
MIRT1937293	hsa-miR-1245b-3p	CLIP-seq
MIRT803556	hsa-miR-1266	CLIP-seq
MIRT1937294	hsa-miR-1273e	CLIP-seq
MIRT1937295	hsa-miR-1273g	CLIP-seq
MIRT1937296	hsa-miR-1287	CLIP-seq
MIRT1937297	hsa-miR-129-5p	CLIP-seq
MIRT1937298	hsa-miR-1304	CLIP-seq
MIRT1937299	hsa-miR-132	CLIP-seq
MIRT803559	hsa-miR-1323	CLIP-seq
MIRT1937300	hsa-miR-144	CLIP-seq
MIRT803560	hsa-miR-181a	CLIP-seq
MIRT803561	hsa-miR-181b	CLIP-seq
MIRT803562	hsa-miR-181c	CLIP-seq
MIRT803563	hsa-miR-181d	CLIP-seq
MIRT1937301	hsa-miR-182	CLIP-seq
MIRT1937302	hsa-miR-1827	CLIP-seq
MIRT1937303	hsa-miR-18a	CLIP-seq
MIRT1937304	hsa-miR-18b	CLIP-seq
MIRT803564	hsa-miR-1909	CLIP-seq
MIRT803565	hsa-miR-194	CLIP-seq
MIRT1937305	hsa-miR-212	CLIP-seq
MIRT1937306	hsa-miR-219-2-3p	CLIP-seq
MIRT1937307	hsa-miR-2682	CLIP-seq
MIRT803572	hsa-miR-302a	CLIP-seq
MIRT803573	hsa-miR-302b	CLIP-seq
MIRT803574	hsa-miR-302c	CLIP-seq
MIRT803575	hsa-miR-302d	CLIP-seq
MIRT803576	hsa-miR-302e	CLIP-seq
MIRT1937308	hsa-miR-3065-5p	CLIP-seq
MIRT1937309	hsa-miR-3117-5p	CLIP-seq
MIRT1937310	hsa-miR-3123	CLIP-seq
MIRT1937311	hsa-miR-3127-3p	CLIP-seq
MIRT803578	hsa-miR-3127-5p	CLIP-seq
MIRT1937312	hsa-miR-3135b	CLIP-seq
MIRT1937313	hsa-miR-3140-5p	CLIP-seq
MIRT1937314	hsa-miR-3143	CLIP-seq
MIRT1937315	hsa-miR-3148	CLIP-seq
MIRT1937316	hsa-miR-3154	CLIP-seq
MIRT1937317	hsa-miR-3168	CLIP-seq
MIRT1937318	hsa-miR-34a	CLIP-seq
MIRT1937319	hsa-miR-34c-5p	CLIP-seq
MIRT1937320	hsa-miR-361-3p	CLIP-seq
MIRT1937321	hsa-miR-3663-5p	CLIP-seq
MIRT803581	hsa-miR-3664-3p	CLIP-seq
MIRT1937322	hsa-miR-3665	CLIP-seq
MIRT803585	hsa-miR-372	CLIP-seq
MIRT803586	hsa-miR-373	CLIP-seq
MIRT803587	hsa-miR-374c	CLIP-seq
MIRT803588	hsa-miR-3918	CLIP-seq
MIRT1937323	hsa-miR-3923	CLIP-seq
MIRT1937324	hsa-miR-3925-5p	CLIP-seq
MIRT1937325	hsa-miR-3936	CLIP-seq
MIRT1937326	hsa-miR-3942-3p	CLIP-seq
MIRT1937327	hsa-miR-409-3p	CLIP-seq
MIRT1937328	hsa-miR-411	CLIP-seq
MIRT803589	hsa-miR-4262	CLIP-seq
MIRT1937329	hsa-miR-4264	CLIP-seq
MIRT1937330	hsa-miR-4270	CLIP-seq
MIRT803590	hsa-miR-4287	CLIP-seq
MIRT803593	hsa-miR-4325	CLIP-seq
MIRT1937331	hsa-miR-4418	CLIP-seq
MIRT803594	hsa-miR-4420	CLIP-seq
MIRT1937332	hsa-miR-4424	CLIP-seq
MIRT1937333	hsa-miR-4427	CLIP-seq
MIRT803596	hsa-miR-4436b-3p	CLIP-seq
MIRT1937334	hsa-miR-4441	CLIP-seq
MIRT1937335	hsa-miR-4452	CLIP-seq
MIRT1937336	hsa-miR-4457	CLIP-seq
MIRT1937337	hsa-miR-449a	CLIP-seq
MIRT1937338	hsa-miR-449b	CLIP-seq
MIRT1937339	hsa-miR-449c	CLIP-seq
MIRT1937340	hsa-miR-4517	CLIP-seq
MIRT803598	hsa-miR-4518	CLIP-seq
MIRT1937341	hsa-miR-4653-3p	CLIP-seq
MIRT1937342	hsa-miR-4677-3p	CLIP-seq
MIRT1937343	hsa-miR-4679	CLIP-seq
MIRT803606	hsa-miR-4684-3p	CLIP-seq
MIRT803607	hsa-miR-4685-3p	CLIP-seq
MIRT1937344	hsa-miR-4699-3p	CLIP-seq
MIRT1937345	hsa-miR-4704-3p	CLIP-seq
MIRT1937346	hsa-miR-4709-5p	CLIP-seq
MIRT1937347	hsa-miR-4735-3p	CLIP-seq
MIRT1937348	hsa-miR-4761-3p	CLIP-seq
MIRT803613	hsa-miR-4763-3p	CLIP-seq
MIRT1937349	hsa-miR-4773	CLIP-seq
MIRT803615	hsa-miR-4778-5p	CLIP-seq
MIRT1937350	hsa-miR-4793-5p	CLIP-seq
MIRT1937351	hsa-miR-4797-3p	CLIP-seq
MIRT1937352	hsa-miR-483-3p	CLIP-seq
MIRT1937353	hsa-miR-509-3-5p	CLIP-seq
MIRT1937354	hsa-miR-509-5p	CLIP-seq
MIRT1937355	hsa-miR-513b	CLIP-seq
MIRT1937356	hsa-miR-516a-3p	CLIP-seq
MIRT803618	hsa-miR-519a	CLIP-seq
MIRT803619	hsa-miR-519b-3p	CLIP-seq
MIRT803620	hsa-miR-519c-3p	CLIP-seq
MIRT803621	hsa-miR-520a-3p	CLIP-seq
MIRT803622	hsa-miR-520b	CLIP-seq
MIRT803623	hsa-miR-520c-3p	CLIP-seq
MIRT803624	hsa-miR-520d-3p	CLIP-seq
MIRT803625	hsa-miR-520e	CLIP-seq
MIRT1937357	hsa-miR-543	CLIP-seq
MIRT1937358	hsa-miR-548a-5p	CLIP-seq
MIRT1937359	hsa-miR-548ab	CLIP-seq
MIRT1937360	hsa-miR-548ak	CLIP-seq
MIRT1937361	hsa-miR-548b-5p	CLIP-seq
MIRT1937362	hsa-miR-548c-5p	CLIP-seq
MIRT1937363	hsa-miR-548d-5p	CLIP-seq
MIRT803627	hsa-miR-548g	CLIP-seq
MIRT1937364	hsa-miR-548h	CLIP-seq
MIRT1937365	hsa-miR-548i	CLIP-seq
MIRT1937366	hsa-miR-548j	CLIP-seq
MIRT803628	hsa-miR-548o	CLIP-seq
MIRT1937367	hsa-miR-548w	CLIP-seq
MIRT1937368	hsa-miR-548y	CLIP-seq
MIRT1937369	hsa-miR-559	CLIP-seq
MIRT803633	hsa-miR-615-5p	CLIP-seq
MIRT1937370	hsa-miR-628-3p	CLIP-seq
MIRT803634	hsa-miR-655	CLIP-seq
MIRT1937371	hsa-miR-657	CLIP-seq
MIRT1937372	hsa-miR-802	CLIP-seq
MIRT1937373	hsa-miR-936	CLIP-seq
MIRT2176964	hsa-miR-1257	CLIP-seq
MIRT803560	hsa-miR-181a	CLIP-seq
MIRT803561	hsa-miR-181b	CLIP-seq
MIRT803562	hsa-miR-181c	CLIP-seq
MIRT803563	hsa-miR-181d	CLIP-seq
MIRT803565	hsa-miR-194	CLIP-seq
MIRT2176965	hsa-miR-198	CLIP-seq
MIRT803569	hsa-miR-299-3p	CLIP-seq
MIRT2176966	hsa-miR-3151	CLIP-seq
MIRT2176967	hsa-miR-342-5p	CLIP-seq
MIRT1937318	hsa-miR-34a	CLIP-seq
MIRT1937319	hsa-miR-34c-5p	CLIP-seq
MIRT2176968	hsa-miR-3658	CLIP-seq
MIRT1937324	hsa-miR-3925-5p	CLIP-seq
MIRT803589	hsa-miR-4262	CLIP-seq
MIRT803590	hsa-miR-4287	CLIP-seq
MIRT2176969	hsa-miR-4302	CLIP-seq
MIRT803595	hsa-miR-4422	CLIP-seq
MIRT2176970	hsa-miR-4426	CLIP-seq
MIRT2176971	hsa-miR-4447	CLIP-seq
MIRT2176972	hsa-miR-4472	CLIP-seq
MIRT803597	hsa-miR-4490	CLIP-seq
MIRT1937337	hsa-miR-449a	CLIP-seq
MIRT1937338	hsa-miR-449b	CLIP-seq
MIRT2176973	hsa-miR-4647	CLIP-seq
MIRT803601	hsa-miR-4651	CLIP-seq
MIRT2176974	hsa-miR-4662b	CLIP-seq
MIRT2176975	hsa-miR-4664-5p	CLIP-seq
MIRT803607	hsa-miR-4685-3p	CLIP-seq
MIRT803609	hsa-miR-4719	CLIP-seq
MIRT2176976	hsa-miR-4790-3p	CLIP-seq
MIRT2176977	hsa-miR-491-5p	CLIP-seq
MIRT1937355	hsa-miR-513b	CLIP-seq
MIRT1937356	hsa-miR-516a-3p	CLIP-seq
MIRT2176978	hsa-miR-541	CLIP-seq
MIRT803630	hsa-miR-582-3p	CLIP-seq
MIRT803632	hsa-miR-608	CLIP-seq
MIRT803633	hsa-miR-615-5p	CLIP-seq
MIRT2176979	hsa-miR-654-5p	CLIP-seq
MIRT2176964	hsa-miR-1257	CLIP-seq
MIRT2176965	hsa-miR-198	CLIP-seq
MIRT1937328	hsa-miR-411	CLIP-seq
MIRT2176969	hsa-miR-4302	CLIP-seq
MIRT2176976	hsa-miR-4790-3p	CLIP-seq
MIRT1937356	hsa-miR-516a-3p	CLIP-seq
MIRT1937356	hsa-miR-516a-3p	CLIP-seq
MIRT2480295	hsa-miR-1206	CLIP-seq
MIRT803551	hsa-miR-1207-5p	CLIP-seq
MIRT2480296	hsa-miR-1231	CLIP-seq
MIRT2480297	hsa-miR-1238	CLIP-seq
MIRT2480298	hsa-miR-127-5p	CLIP-seq
MIRT1937298	hsa-miR-1304	CLIP-seq
MIRT803559	hsa-miR-1323	CLIP-seq
MIRT2480299	hsa-miR-141	CLIP-seq
MIRT2480300	hsa-miR-146a	CLIP-seq
MIRT2480301	hsa-miR-146b-5p	CLIP-seq
MIRT2480302	hsa-miR-149	CLIP-seq
MIRT1937301	hsa-miR-182	CLIP-seq
MIRT1937302	hsa-miR-1827	CLIP-seq
MIRT1937303	hsa-miR-18a	CLIP-seq
MIRT1937304	hsa-miR-18b	CLIP-seq
MIRT2480303	hsa-miR-200a	CLIP-seq
MIRT2480304	hsa-miR-2117	CLIP-seq
MIRT1937307	hsa-miR-2682	CLIP-seq
MIRT2480305	hsa-miR-3064-5p	CLIP-seq
MIRT2480306	hsa-miR-3074-5p	CLIP-seq
MIRT803577	hsa-miR-3124-3p	CLIP-seq
MIRT2480307	hsa-miR-3125	CLIP-seq
MIRT1937317	hsa-miR-3168	CLIP-seq
MIRT2480308	hsa-miR-320e	CLIP-seq
MIRT1937318	hsa-miR-34a	CLIP-seq
MIRT1937319	hsa-miR-34c-5p	CLIP-seq
MIRT2480309	hsa-miR-3655	CLIP-seq
MIRT1937321	hsa-miR-3663-5p	CLIP-seq
MIRT2480310	hsa-miR-3685	CLIP-seq
MIRT2480311	hsa-miR-384	CLIP-seq
MIRT2480312	hsa-miR-3916	CLIP-seq
MIRT1937324	hsa-miR-3925-5p	CLIP-seq
MIRT2480313	hsa-miR-4259	CLIP-seq
MIRT2480314	hsa-miR-4266	CLIP-seq
MIRT1937330	hsa-miR-4270	CLIP-seq
MIRT2480315	hsa-miR-4273	CLIP-seq
MIRT2480316	hsa-miR-4288	CLIP-seq
MIRT803596	hsa-miR-4436b-3p	CLIP-seq
MIRT1937334	hsa-miR-4441	CLIP-seq
MIRT1937337	hsa-miR-449a	CLIP-seq
MIRT1937338	hsa-miR-449b	CLIP-seq
MIRT1937339	hsa-miR-449c	CLIP-seq
MIRT2480317	hsa-miR-4691-5p	CLIP-seq
MIRT2480318	hsa-miR-4698	CLIP-seq
MIRT2480319	hsa-miR-4715-5p	CLIP-seq
MIRT1937347	hsa-miR-4735-3p	CLIP-seq
MIRT2480320	hsa-miR-4753-3p	CLIP-seq
MIRT1937348	hsa-miR-4761-3p	CLIP-seq
MIRT803613	hsa-miR-4763-3p	CLIP-seq
MIRT2480321	hsa-miR-4794	CLIP-seq
MIRT2480322	hsa-miR-496	CLIP-seq
MIRT803628	hsa-miR-548o	CLIP-seq
MIRT2480323	hsa-miR-579	CLIP-seq
MIRT2480324	hsa-miR-607	CLIP-seq
MIRT2480325	hsa-miR-632	CLIP-seq
MIRT2480326	hsa-miR-651	CLIP-seq
MIRT803551	hsa-miR-1207-5p	CLIP-seq
MIRT2480296	hsa-miR-1231	CLIP-seq
MIRT1937298	hsa-miR-1304	CLIP-seq
MIRT2480300	hsa-miR-146a	CLIP-seq
MIRT2480301	hsa-miR-146b-5p	CLIP-seq
MIRT1937302	hsa-miR-1827	CLIP-seq
MIRT2480304	hsa-miR-2117	CLIP-seq
MIRT1937307	hsa-miR-2682	CLIP-seq
MIRT1937317	hsa-miR-3168	CLIP-seq
MIRT1937318	hsa-miR-34a	CLIP-seq
MIRT1937319	hsa-miR-34c-5p	CLIP-seq
MIRT2480309	hsa-miR-3655	CLIP-seq
MIRT1937321	hsa-miR-3663-5p	CLIP-seq
MIRT1937324	hsa-miR-3925-5p	CLIP-seq
MIRT1937330	hsa-miR-4270	CLIP-seq
MIRT2480315	hsa-miR-4273	CLIP-seq
MIRT2480316	hsa-miR-4288	CLIP-seq
MIRT803596	hsa-miR-4436b-3p	CLIP-seq
MIRT1937334	hsa-miR-4441	CLIP-seq
MIRT1937337	hsa-miR-449a	CLIP-seq
MIRT1937338	hsa-miR-449b	CLIP-seq
MIRT1937339	hsa-miR-449c	CLIP-seq
MIRT2480320	hsa-miR-4753-3p	CLIP-seq
MIRT1937348	hsa-miR-4761-3p	CLIP-seq
MIRT803613	hsa-miR-4763-3p	CLIP-seq
MIRT1937356	hsa-miR-516a-3p	CLIP-seq
MIRT2480325	hsa-miR-632	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0035360	Process	Positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA	21047783
GO:0035517	Component	PR-DUB complex	IBA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IDA	21047783
GO:0045600	Process	Positive regulation of fat cell differentiation	IDA	21047783
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21047783
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
612991	23805	ENSG00000143970

Q76L83

Protein name

Putative Polycomb group protein ASXL2 (Additional sex combs-like protein 2)

Protein function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate

PDB

9ATN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05066	HARE-HTH	11 → 83	HB1, ASXL, restriction endonuclease HTH domain	Family
PF13919	ASXH	256 → 380	Asx homology domain	Domain
PF13922	PHD_3	1373 → 1433	PHD domain of transcriptional enhancer, Asx	Domain

Sequence

MREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAML
HTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSDSQSSENSSSSSDG
GSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQ
QCRPSISISSNQHLSLKTVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVEN
TLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALINKHTFSVLPGDCQ
QRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEI
EKEKKVEPWKEQFFESYYGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLI
RIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSSALNTHELSSILPI
KCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKP
TAGAGPQETNMKEPLATLVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVS
PQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSITSPNRTGARTLADI
KAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRV
SETGKGPTLELAGTGSRGGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVP
PTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSCRQEKAPSPTGPAL
ISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLP
VPQVSATTAPAGSAPPSSTLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGK
DVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEVNERQSHPATQQQL
GKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLL
SVVPPSQFNFAHSGFQLEDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRR
THSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTGDEQESVTVKEEPQ
VSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKT
LARDLIQAAQKQMAHAVRGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSP
TQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTIPASQAMNPSSHGQ
TIPVQAFSEENSIEGTPSKCYCRLKAMIMCKGCGAFCHDDCIGPSKLCVSCLVVR

Sequence length

1435

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		UCH proteinases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1574390972	RCV003127412	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shashi-Pena syndrome	Pathogenic; Likely pathogenic	rs1574390728, rs2149136105, rs2465315580, rs2465305772, rs886041065, rs886041066, rs886041067, rs886041068, rs886041069, rs886041070, rs2465315449, rs1574395471, rs1574395479	RCV002227946 RCV001823012 RCV002795915 RCV003140538 RCV000258822 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal cerebellum morphology	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASXL2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Severe hydrocephalus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (64)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28063196, 30251205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	27798625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	27798625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	24121791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26640146		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23046516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	28063196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27693232, 37493007	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glabellar hemangioma	Glabellar hemangioma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27693232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	23046516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37493007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27693232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	27693232	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic Stroke	Ischemic stroke	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28516957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24973361, 30251205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24973361, 28063196, 30251205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	27798625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	27693232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23736028, 26640146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	24121791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26416890, 28593990, 29284740		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30349006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular ventricular septum defect	Muscular ventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28593990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19388938, 22186017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32945427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26640146, 28516957, 28593990, 30349006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome Shashi type	Orofaciodigital syndrome	Pubtator	33751773, 37493007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	37493007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHASHI-PENA SYNDROME	SHASHI-PENA SYNDROME	GENOMICS_ENGLAND_DG	27693232		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHASHI-PENA SYNDROME	SHASHI-PENA SYNDROME	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ASXL2 (ASXL transcriptional regulator 2)