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ASXL1 (ASXL transcriptional regulator 1)

Gene

171023

ASXL transcriptional regulator 1

ASXL1

BOPS, MDS

20q11.21

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which ar

Show/Hide all(52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111316898	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs200702600	C>A,T	Not-provided, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs371369583	C>A,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs373145711	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs373221034	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs387907077	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs387907078	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397515401	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs542568224	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs750170870	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs750318549	GG>-,G,GGG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs754129466	C>G,T	Likely-benign, pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs764651405	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs766433101	AGAGAGGCGGCCACCACTGCCAT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs777537805	TG>-	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786205552	G>A,C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039670	TG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886039722	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041975	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886043994	GT>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057518458	->AGGC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064793988	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064796100	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064796772	CT>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1261178797	T>A,C	Pathogenic	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant
rs1427299519	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1486082302	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555900832	->A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555901138	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555911496	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555911508	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555911515	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555912285	TGTTGAGC>CAA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555912296	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555912392	->CAGTGAG	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel
rs1555912419	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555912648	CTCC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555912709	GACAG>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555912897	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555912930	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555912974	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1569324457	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1569333361	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1569337176	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1569337452	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1569339085	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1600583334	->CT	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600586587	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600588199	CAAGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600588239	->AC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600592990	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600594932	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all(310)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043339	hsa-miR-331-3p	CLASH	23622248
MIRT042036	hsa-miR-484	CLASH	23622248
MIRT041588	hsa-miR-193b-3p	CLASH	23622248
MIRT041588	hsa-miR-193b-3p	CLASH	23622248
MIRT481416	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT481415	hsa-miR-4463	PAR-CLIP	23592263
MIRT481414	hsa-miR-1321	PAR-CLIP	23592263
MIRT481413	hsa-miR-4739	PAR-CLIP	23592263
MIRT481412	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT481411	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT481410	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT481408	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT481409	hsa-miR-4270	PAR-CLIP	23592263
MIRT481407	hsa-miR-4441	PAR-CLIP	23592263
MIRT481406	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT235611	hsa-miR-6077	PAR-CLIP	23592263
MIRT481405	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT481404	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT481403	hsa-miR-4736	PAR-CLIP	23592263
MIRT481402	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT481401	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT481400	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT481399	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT481397	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT481398	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT481396	hsa-miR-7150	PAR-CLIP	23592263
MIRT728290	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT728289	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT728288	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT728287	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT732727	hsa-miR-206	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	34234552
MIRT481416	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT481415	hsa-miR-4463	PAR-CLIP	23592263
MIRT481414	hsa-miR-1321	PAR-CLIP	23592263
MIRT481413	hsa-miR-4739	PAR-CLIP	23592263
MIRT481412	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT481411	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT481410	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT481408	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT481409	hsa-miR-4270	PAR-CLIP	23592263
MIRT481407	hsa-miR-4441	PAR-CLIP	23592263
MIRT481406	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT235611	hsa-miR-6077	PAR-CLIP	23592263
MIRT481405	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT481404	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT481403	hsa-miR-4736	PAR-CLIP	23592263
MIRT481402	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT481401	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT481400	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT481399	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT481397	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT481398	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT481396	hsa-miR-7150	PAR-CLIP	23592263
MIRT803485	hsa-miR-1182	CLIP-seq
MIRT803486	hsa-miR-1245b-3p	CLIP-seq
MIRT803487	hsa-miR-1265	CLIP-seq
MIRT803488	hsa-miR-1287	CLIP-seq
MIRT803489	hsa-miR-141	CLIP-seq
MIRT803490	hsa-miR-154	CLIP-seq
MIRT803491	hsa-miR-183	CLIP-seq
MIRT803492	hsa-miR-185	CLIP-seq
MIRT803493	hsa-miR-200a	CLIP-seq
MIRT803494	hsa-miR-203	CLIP-seq
MIRT803495	hsa-miR-23a	CLIP-seq
MIRT803496	hsa-miR-23b	CLIP-seq
MIRT803497	hsa-miR-23c	CLIP-seq
MIRT803498	hsa-miR-2467-3p	CLIP-seq
MIRT803499	hsa-miR-3064-3p	CLIP-seq
MIRT803500	hsa-miR-3125	CLIP-seq
MIRT803501	hsa-miR-3135b	CLIP-seq
MIRT803502	hsa-miR-3147	CLIP-seq
MIRT803503	hsa-miR-3150b-3p	CLIP-seq
MIRT803504	hsa-miR-3165	CLIP-seq
MIRT803505	hsa-miR-3190	CLIP-seq
MIRT803506	hsa-miR-323-5p	CLIP-seq
MIRT803507	hsa-miR-3605-5p	CLIP-seq
MIRT803508	hsa-miR-3609	CLIP-seq
MIRT803509	hsa-miR-3622a-3p	CLIP-seq
MIRT803510	hsa-miR-3622b-3p	CLIP-seq
MIRT803511	hsa-miR-3662	CLIP-seq
MIRT803512	hsa-miR-3681	CLIP-seq
MIRT803513	hsa-miR-3689a-3p	CLIP-seq
MIRT803514	hsa-miR-3689c	CLIP-seq
MIRT803515	hsa-miR-3916	CLIP-seq
MIRT803516	hsa-miR-3942-3p	CLIP-seq
MIRT803517	hsa-miR-3977	CLIP-seq
MIRT803518	hsa-miR-4261	CLIP-seq
MIRT803519	hsa-miR-4266	CLIP-seq
MIRT803520	hsa-miR-4287	CLIP-seq
MIRT803521	hsa-miR-4306	CLIP-seq
MIRT803522	hsa-miR-4425	CLIP-seq
MIRT803523	hsa-miR-4426	CLIP-seq
MIRT803524	hsa-miR-4456	CLIP-seq
MIRT803525	hsa-miR-4495	CLIP-seq
MIRT803526	hsa-miR-451b	CLIP-seq
MIRT803527	hsa-miR-4644	CLIP-seq
MIRT803528	hsa-miR-4647	CLIP-seq
MIRT803529	hsa-miR-4662b	CLIP-seq
MIRT803530	hsa-miR-4672	CLIP-seq
MIRT803531	hsa-miR-4685-3p	CLIP-seq
MIRT803532	hsa-miR-4695-5p	CLIP-seq
MIRT803533	hsa-miR-4764-3p	CLIP-seq
MIRT803534	hsa-miR-4779	CLIP-seq
MIRT803535	hsa-miR-4780	CLIP-seq
MIRT803536	hsa-miR-4781-3p	CLIP-seq
MIRT803537	hsa-miR-4784	CLIP-seq
MIRT803538	hsa-miR-494	CLIP-seq
MIRT803539	hsa-miR-520g	CLIP-seq
MIRT803540	hsa-miR-520h	CLIP-seq
MIRT803541	hsa-miR-542-3p	CLIP-seq
MIRT803542	hsa-miR-548ah	CLIP-seq
MIRT803543	hsa-miR-576-3p	CLIP-seq
MIRT803544	hsa-miR-603	CLIP-seq
MIRT803545	hsa-miR-623	CLIP-seq
MIRT803546	hsa-miR-668	CLIP-seq
MIRT803547	hsa-miR-765	CLIP-seq
MIRT803548	hsa-miR-875-3p	CLIP-seq
MIRT803549	hsa-miR-876-3p	CLIP-seq
MIRT803550	hsa-miR-885-3p	CLIP-seq
MIRT1937248	hsa-miR-1206	CLIP-seq
MIRT1937249	hsa-miR-1278	CLIP-seq
MIRT803491	hsa-miR-183	CLIP-seq
MIRT803492	hsa-miR-185	CLIP-seq
MIRT1937250	hsa-miR-2278	CLIP-seq
MIRT1937251	hsa-miR-300	CLIP-seq
MIRT1937252	hsa-miR-3154	CLIP-seq
MIRT1937253	hsa-miR-3156-5p	CLIP-seq
MIRT1937254	hsa-miR-3157-5p	CLIP-seq
MIRT1937255	hsa-miR-3158-3p	CLIP-seq
MIRT1937256	hsa-miR-3177-5p	CLIP-seq
MIRT1937257	hsa-miR-3187-3p	CLIP-seq
MIRT1937258	hsa-miR-329	CLIP-seq
MIRT1937259	hsa-miR-362-3p	CLIP-seq
MIRT1937260	hsa-miR-3646	CLIP-seq
MIRT1937261	hsa-miR-381	CLIP-seq
MIRT1937262	hsa-miR-3941	CLIP-seq
MIRT1937263	hsa-miR-4274	CLIP-seq
MIRT803521	hsa-miR-4306	CLIP-seq
MIRT1937264	hsa-miR-4318	CLIP-seq
MIRT1937265	hsa-miR-4480	CLIP-seq
MIRT803525	hsa-miR-4495	CLIP-seq
MIRT1937266	hsa-miR-4519	CLIP-seq
MIRT1937267	hsa-miR-4524	CLIP-seq
MIRT1937268	hsa-miR-4528	CLIP-seq
MIRT1937269	hsa-miR-4529-5p	CLIP-seq
MIRT803527	hsa-miR-4644	CLIP-seq
MIRT1937270	hsa-miR-4666-3p	CLIP-seq
MIRT1937271	hsa-miR-4676-5p	CLIP-seq
MIRT1937272	hsa-miR-4691-3p	CLIP-seq
MIRT1937273	hsa-miR-4693-5p	CLIP-seq
MIRT1937274	hsa-miR-4698	CLIP-seq
MIRT1937275	hsa-miR-4705	CLIP-seq
MIRT1937276	hsa-miR-4712-5p	CLIP-seq
MIRT1937277	hsa-miR-4721	CLIP-seq
MIRT1937278	hsa-miR-4725-5p	CLIP-seq
MIRT1937279	hsa-miR-4786-3p	CLIP-seq
MIRT1937280	hsa-miR-4789-5p	CLIP-seq
MIRT1937281	hsa-miR-504	CLIP-seq
MIRT1937282	hsa-miR-513a-3p	CLIP-seq
MIRT803541	hsa-miR-542-3p	CLIP-seq
MIRT1937283	hsa-miR-552	CLIP-seq
MIRT1937284	hsa-miR-575	CLIP-seq
MIRT1937285	hsa-miR-600	CLIP-seq
MIRT803544	hsa-miR-603	CLIP-seq
MIRT1937286	hsa-miR-770-5p	CLIP-seq
MIRT1937287	hsa-miR-877	CLIP-seq
MIRT803550	hsa-miR-885-3p	CLIP-seq
MIRT1937288	hsa-miR-892a	CLIP-seq
MIRT2176912	hsa-miR-1248	CLIP-seq
MIRT2176913	hsa-miR-1256	CLIP-seq
MIRT1937249	hsa-miR-1278	CLIP-seq
MIRT2176914	hsa-miR-1297	CLIP-seq
MIRT2176915	hsa-miR-1343	CLIP-seq
MIRT2176916	hsa-miR-135a	CLIP-seq
MIRT2176917	hsa-miR-135b	CLIP-seq
MIRT803489	hsa-miR-141	CLIP-seq
MIRT2176918	hsa-miR-1827	CLIP-seq
MIRT803491	hsa-miR-183	CLIP-seq
MIRT803492	hsa-miR-185	CLIP-seq
MIRT2176919	hsa-miR-1915	CLIP-seq
MIRT803493	hsa-miR-200a	CLIP-seq
MIRT803494	hsa-miR-203	CLIP-seq
MIRT2176920	hsa-miR-2114	CLIP-seq
MIRT803495	hsa-miR-23a	CLIP-seq
MIRT803496	hsa-miR-23b	CLIP-seq
MIRT803497	hsa-miR-23c	CLIP-seq
MIRT2176921	hsa-miR-26a	CLIP-seq
MIRT2176922	hsa-miR-26b	CLIP-seq
MIRT2176923	hsa-miR-2964a-5p	CLIP-seq
MIRT1937251	hsa-miR-300	CLIP-seq
MIRT803499	hsa-miR-3064-3p	CLIP-seq
MIRT2176924	hsa-miR-3064-5p	CLIP-seq
MIRT2176925	hsa-miR-3119	CLIP-seq
MIRT803503	hsa-miR-3150b-3p	CLIP-seq
MIRT2176926	hsa-miR-3155	CLIP-seq
MIRT2176927	hsa-miR-3155b	CLIP-seq
MIRT1937253	hsa-miR-3156-5p	CLIP-seq
MIRT1937254	hsa-miR-3157-5p	CLIP-seq
MIRT1937255	hsa-miR-3158-3p	CLIP-seq
MIRT803504	hsa-miR-3165	CLIP-seq
MIRT2176928	hsa-miR-3176	CLIP-seq
MIRT1937256	hsa-miR-3177-5p	CLIP-seq
MIRT1937257	hsa-miR-3187-3p	CLIP-seq
MIRT803506	hsa-miR-323-5p	CLIP-seq
MIRT2176929	hsa-miR-326	CLIP-seq
MIRT1937258	hsa-miR-329	CLIP-seq
MIRT2176930	hsa-miR-330-5p	CLIP-seq
MIRT2176931	hsa-miR-3619-3p	CLIP-seq
MIRT2176932	hsa-miR-3622b-5p	CLIP-seq
MIRT1937259	hsa-miR-362-3p	CLIP-seq
MIRT2176933	hsa-miR-3652	CLIP-seq
MIRT2176934	hsa-miR-3667-3p	CLIP-seq
MIRT2176935	hsa-miR-3670	CLIP-seq
MIRT1937261	hsa-miR-381	CLIP-seq
MIRT2176936	hsa-miR-3922-3p	CLIP-seq
MIRT1937262	hsa-miR-3941	CLIP-seq
MIRT803517	hsa-miR-3977	CLIP-seq
MIRT803519	hsa-miR-4266	CLIP-seq
MIRT1937263	hsa-miR-4274	CLIP-seq
MIRT803520	hsa-miR-4287	CLIP-seq
MIRT2176937	hsa-miR-4302	CLIP-seq
MIRT803521	hsa-miR-4306	CLIP-seq
MIRT1937264	hsa-miR-4318	CLIP-seq
MIRT2176938	hsa-miR-4328	CLIP-seq
MIRT2176939	hsa-miR-4430	CLIP-seq
MIRT2176940	hsa-miR-4434	CLIP-seq
MIRT803524	hsa-miR-4456	CLIP-seq
MIRT2176941	hsa-miR-4457	CLIP-seq
MIRT2176942	hsa-miR-4465	CLIP-seq
MIRT2176943	hsa-miR-4471	CLIP-seq
MIRT2176944	hsa-miR-4488	CLIP-seq
MIRT2176945	hsa-miR-4505	CLIP-seq
MIRT2176946	hsa-miR-4516	CLIP-seq
MIRT1937266	hsa-miR-4519	CLIP-seq
MIRT803526	hsa-miR-451b	CLIP-seq
MIRT1937267	hsa-miR-4524	CLIP-seq
MIRT1937268	hsa-miR-4528	CLIP-seq
MIRT1937269	hsa-miR-4529-5p	CLIP-seq
MIRT2176947	hsa-miR-4531	CLIP-seq
MIRT803527	hsa-miR-4644	CLIP-seq
MIRT2176948	hsa-miR-4659a-3p	CLIP-seq
MIRT2176949	hsa-miR-4659b-3p	CLIP-seq
MIRT1937270	hsa-miR-4666-3p	CLIP-seq
MIRT1937271	hsa-miR-4676-5p	CLIP-seq
MIRT803531	hsa-miR-4685-3p	CLIP-seq
MIRT2176950	hsa-miR-4690-5p	CLIP-seq
MIRT1937272	hsa-miR-4691-3p	CLIP-seq
MIRT1937273	hsa-miR-4693-5p	CLIP-seq
MIRT803532	hsa-miR-4695-5p	CLIP-seq
MIRT2176951	hsa-miR-4697-5p	CLIP-seq
MIRT1937274	hsa-miR-4698	CLIP-seq
MIRT1937275	hsa-miR-4705	CLIP-seq
MIRT1937276	hsa-miR-4712-5p	CLIP-seq
MIRT1937277	hsa-miR-4721	CLIP-seq
MIRT2176952	hsa-miR-4722-5p	CLIP-seq
MIRT2176953	hsa-miR-4761-3p	CLIP-seq
MIRT2176954	hsa-miR-4768-3p	CLIP-seq
MIRT2176955	hsa-miR-4776-5p	CLIP-seq
MIRT803534	hsa-miR-4779	CLIP-seq
MIRT803535	hsa-miR-4780	CLIP-seq
MIRT803537	hsa-miR-4784	CLIP-seq
MIRT2176956	hsa-miR-490-3p	CLIP-seq
MIRT2176957	hsa-miR-490-5p	CLIP-seq
MIRT2176958	hsa-miR-498	CLIP-seq
MIRT1937282	hsa-miR-513a-3p	CLIP-seq
MIRT2176959	hsa-miR-513b	CLIP-seq
MIRT803541	hsa-miR-542-3p	CLIP-seq
MIRT1937283	hsa-miR-552	CLIP-seq
MIRT1937284	hsa-miR-575	CLIP-seq
MIRT803543	hsa-miR-576-3p	CLIP-seq
MIRT803544	hsa-miR-603	CLIP-seq
MIRT803545	hsa-miR-623	CLIP-seq
MIRT2176960	hsa-miR-637	CLIP-seq
MIRT2176961	hsa-miR-665	CLIP-seq
MIRT2176962	hsa-miR-760	CLIP-seq
MIRT803547	hsa-miR-765	CLIP-seq
MIRT1937286	hsa-miR-770-5p	CLIP-seq
MIRT803549	hsa-miR-876-3p	CLIP-seq
MIRT803550	hsa-miR-885-3p	CLIP-seq
MIRT1937288	hsa-miR-892a	CLIP-seq
MIRT2176963	hsa-miR-940	CLIP-seq
MIRT803491	hsa-miR-183	CLIP-seq
MIRT1937255	hsa-miR-3158-3p	CLIP-seq
MIRT803506	hsa-miR-323-5p	CLIP-seq
MIRT1937263	hsa-miR-4274	CLIP-seq
MIRT2176941	hsa-miR-4457	CLIP-seq
MIRT1937266	hsa-miR-4519	CLIP-seq
MIRT1937267	hsa-miR-4524	CLIP-seq
MIRT1937277	hsa-miR-4721	CLIP-seq
MIRT1937282	hsa-miR-513a-3p	CLIP-seq
MIRT2176959	hsa-miR-513b	CLIP-seq
MIRT2176962	hsa-miR-760	CLIP-seq
MIRT803548	hsa-miR-875-3p	CLIP-seq
MIRT803549	hsa-miR-876-3p	CLIP-seq
MIRT803550	hsa-miR-885-3p	CLIP-seq
MIRT1937279	hsa-miR-4786-3p	CLIP-seq
MIRT1937280	hsa-miR-4789-5p	CLIP-seq
MIRT2176913	hsa-miR-1256	CLIP-seq
MIRT1937252	hsa-miR-3154	CLIP-seq
MIRT2464884	hsa-miR-338-3p	CLIP-seq
MIRT803526	hsa-miR-451b	CLIP-seq
MIRT2464885	hsa-miR-4530	CLIP-seq
MIRT2464886	hsa-miR-4696	CLIP-seq
MIRT2464887	hsa-miR-766	CLIP-seq
MIRT803517	hsa-miR-3977	CLIP-seq
MIRT2480293	hsa-miR-4291	CLIP-seq
MIRT2480294	hsa-miR-545	CLIP-seq
MIRT803517	hsa-miR-3977	CLIP-seq
MIRT2480293	hsa-miR-4291	CLIP-seq
MIRT2480294	hsa-miR-545	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SOX2	Activation	22542624

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0005515	Function	Protein binding	IPI	16606617, 18624398, 19615732, 20436459, 22897849, 27705803, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0030097	Process	Hemopoiesis	IEA
GO:0032526	Process	Response to retinoic acid	ISS
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0035517	Component	PR-DUB complex	IBA	21873635
GO:0035517	Component	PR-DUB complex	IDA	20436459
GO:0035522	Process	Monoubiquitinated histone H2A deubiquitination	IDA	20436459
GO:0035564	Process	Regulation of kidney size	IEA
GO:0042974	Function	Retinoic acid receptor binding	ISS
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA	21873635
GO:0042975	Function	Peroxisome proliferator activated receptor binding	ISS
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048386	Process	Positive regulation of retinoic acid receptor signaling pathway	ISS
GO:0048538	Process	Thymus development	IEA
GO:0048539	Process	Bone marrow development	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0060430	Process	Lung saccule development	IEA
GO:0072015	Process	Glomerular visceral epithelial cell development	IEA

MIM	HGNC	e!Ensembl
612990	18318	ENSG00000171456

Protein

UniProt ID

Q8IXJ9

Protein name

Polycomb group protein ASXL1 (Additional sex combs-like protein 1)

Protein function

Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617

PDB

8H1T , 8SVF

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	236 → 361	Asx homology domain	Domain
PF13922	PHD_3	1479 → 1539	PHD domain of transcriptional enhancer, Asx	Domain

Sequence

MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAML
HSNSRGGEGLFYKLPGRISLFTLKKDALQWSRHPATVEGEEPEDTADVESCGSNEASTVS
GENDVSLDETSSNASCSTESQSRPLSNPRDSYRASSQANKQKKKTGVMLPRVVLTPLKVN
GAHVESASGFSGCHADGESGSPSSSSSGSLALGSAAIRGQAEVTQDPAPLLRGFRKPATG
QMKRNRGEEIDFETPGSILVNTNLRALINSRTFHALPSHFQQQLLFLLPEVDRQVGTDGL
LRLSSSALNNEFFTHAAQSWRERLADGEFTHEMQVRIRQEMEKEKKVEQWKEKFFEDYYG
QKLGLTKEESLQQNVGQEEAEIKSGLCVPGESVRIQRGPATRQRDGHFKKRSRPDLRTRA
RRNLYKKQESEQAGVAKDAKSVASDVPLYKDGEAKTDPAGLSSPHLPGTSSAAPDLEGPE
FPVESVASRIQAEPDNLARASASPDRIPSLPQETVDQEPKDQKRKSFEQAASASFPEKKP
RLEDRQSFRNTIESVHTEKPQPTKEEPKVPPIRIQLSRIKPPWVVKGQPTYQICPRIIPT
TESSCRGWTGARTLADIKARALQVRGARGHHCHREAATTAIGGGGGPGGGGGGATDEGGG
RGSSSGDGGEACGHPEPRGGPSTPGKCTSDLQRTQLLPPYPLNGEHTQAGTAMSRARRED
LPSLRKEESCLLQRATVGLTDGLGDASQLPVAPTGDQPCQALPLLSSQTSVAERLVEQPQ
LHPDVRTECESGTTSWESDDEEQGPTVPADNGPIPSLVGDDTLEKGTGQALDSHPTMKDP
VNVTPSSTPESSPTDCLQNRAFDDELGLGGSCPPMRESDTRQENLKTKALVSNSSLHWIP
IPSNDEVVKQPKPESREHIPSVEPQVGEEWEKAAPTPPALPGDLTAEEGLDPLDSLTSLW
TVPSRGGSDSNGSYCQQVDIEKLKINGDSEALSPHGESTDTASDFEGHLTEDSSEADTRE
AAVTKGSSVDKDEKPNWNQSAPLSKVNGDMRLVTRTDGMVAPQSWVSRVCAVRQKIPDSL
LLASTEYQPRAVCLSMPGSSVEATNPLVMQLLQGSLPLEKVLPPAHDDSMSESPQVPLTK
DQSHGSLRMGSLHGLGKNSGMVDGSSPSSLRALKEPLLPDSCETGTGLARIEATQAPGAP
QKNCKAVPSFDSLHPVTNPITSSRKLEEMDSKEQFSSFSCEDQKEVRAMSQDSNSNAAPG
KSPGDLTTSRTPRFSSPNVISFGPEQTGRALGDQSNVTGQGKKLFGSGNVAATLQRPRPA
DPMPLPAEIPPVFPSGKLGPSTNSMSGGVQTPREDWAPKPHAFVGSVKNEKTFVGGPLKA
NAENRKATGHSPLELVGHLEGMPFVMDLPFWKLPREPGKGLSEPLEPSSLPSQLSIKQAF
YGKLSKLQLSSTSFNYSSSSPTFPKGLAGSVVQLSHKANFGASHSASLSLQMFTDSSTVE
SISLQCACSLKAMIMCQGCGAFCHDDCIGPSKLCVLCLVVR

Sequence length

1541

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		UCH proteinases

Associated diseases

Show/Hide Causal Diseases (19)

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Bohring-opitz syndrome	Bohring syndrome, Bohring-Opitz syndrome	rs387907077, rs373145711, rs200702600, rs750170870, rs387907078, rs1600588199, rs397515401, rs777537805, rs111316898, rs886043994, rs750318549, rs764651405, rs1555912709, rs1555901138, rs1569337452, rs1569324457, rs373221034, rs1569333361, rs1569337176, rs1569339085, rs1600592990, rs1583657698, rs1600588239, rs1600583334, rs1600586587, rs766433101, rs1254271466	21706002, 28107566, 25131622, 26633542, 22419483
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	22436456, 21368916, 22419483, 21706002, 15040442, 25921057, 26364555
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	28107566, 27992414
Myelomonocytic leukemia	Leukemia, Myelomonocytic, Chronic, Juvenile Myelomonocytic Leukemia, Chronic myelomonocytic leukemia	rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445	28107566, 26457647
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28825729
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119, rs122453121, rs869025310, rs869025311, rs869025312, rs121907903, rs1131690795, rs1554945033, rs1423753702, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs771527206, rs2071072322	28825729

Show/Hide Unknown Diseases (39)

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory nipple	Accessory nipple
Cerebral cortical atrophy	Cerebral cortical atrophy
Congenital camptodactyly	Congenital Camptodactyly
Dislocated radial head	Congenital dislocation of radial head
Congenital malrotation of intestine	Congenital malrotation of intestine
Dandy-walker syndrome	Dandy-Walker Syndrome
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		21368916, 25921057, 26364555, 15040442, 22419483, 22436456, 21706002
Eosinophilia	Eosinophilia
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Glabellar hemangioma	Glabellar hemangioma
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hypertrichosis	Hypertrichosis
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Intestinal volvulus	Intestinal Volvulus
Mastocytosis	Mastocytosis
Micrognathism	Micrognathism
Microtia	Congenital small ears
Movement disorders	Movement Disorders		25921057, 22419483, 22436456, 21706002, 26364555, 15040442, 21368916
Multicystic renal dysplasia	Congenital anomaly of the kidney
Myeloid leukemia	Myeloid Leukemia, Chronic
Neuronal heterotopia	Neuronal heterotopia
Patent foramen ovale	Foramen Ovale, Patent
Phakomatosis pigmentovascularis	Port-Wine Stain
Posteriorly rotated ear	Posteriorly rotated ear
Promyelocytic leukemia	Acute Promyelocytic Leukemia		26285909
Proptosis	Exophthalmos
Retinal diseases	Retinal Diseases
Sleep apnea	Sleep Apnea Syndromes
Spade-like hand	Spade-like hand
Spastic quadriplegia	Spastic Quadriplegia
Strabismus	Strabismus
Synophrys	Synophrys
Systemic mastocytosis	Aggressive systemic mastocytosis
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease		25567135
Systemic mastocytosis with associated hematologic neoplasm	Systemic mastocytosis with associated hematologic neoplasm
Talipes	Talipes
Trigonocephaly	Trigonocephaly	rs281875280, rs184394424, rs200650442, rs762799389, rs556974765

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