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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	171023
Gene name	ASXL transcriptional regulator 1
Gene symbol	ASXL1
Synonyms (NCBI Gene)	BOPSMDS
Chromosome	20
Chromosome location	20q11.21
Summary	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

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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

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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 assayqRT-PCRWestern 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

Show/Hide all (1)

Transcription factor	Regulation	Reference
SOX2	Activation	22542624

Show/Hide all (43)

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
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0005515	Function	Protein binding	IPI	16606617, 18624398, 19615732, 20436459, 22897849, 27705803, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032526	Process	Response to retinoic acid	ISS
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0035517	Component	PR-DUB complex	IBA
GO:0035517	Component	PR-DUB complex	IDA	20436459
GO:0035517	Component	PR-DUB complex	IPI	20436459
GO:0035564	Process	Regulation of kidney size	IEA
GO:0042974	Function	Nuclear retinoic acid receptor binding	IEA
GO:0042974	Function	Nuclear retinoic acid receptor binding	ISS
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IEA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	ISS
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
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	IEA
GO:0048386	Process	Positive regulation of retinoic acid receptor signaling pathway	ISS
GO:0048534	Process	Hematopoietic or lymphoid organ development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048539	Process	Bone marrow development	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0060348	Process	Bone development	IEA
GO:0060430	Process	Lung saccule development	IEA
GO:0072015	Process	Podocyte development	IEA

MIM	HGNC	e!Ensembl
612990	18318	ENSG00000171456

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes. {ECO:000026

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

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 (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs750318549	RCV001526628	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASXL1-related disorder	Pathogenic; Likely pathogenic	rs752263134, rs1167715259, rs750318549, rs1555912648	RCV003335919 RCV004550677 RCV004740262 RCV004722989	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical chronic myeloid leukemia, BCR-ABL1 negative	Pathogenic	rs2515552708	RCV003232901	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs2011568558	RCV001291374	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bohring-Opitz syndrome	Likely pathogenic; Pathogenic	rs2048205050, rs757040754, rs2123267182, rs1311986203, rs2145372935, rs2145360404, rs2011567269, rs748946310, rs765327792, rs2011649912, rs2515583794, rs2011609101, rs2515587165, rs2515535483, rs2515591610 View all (42 more)	RCV001333854 RCV001333853 RCV001449799 RCV001528120 RCV001548759 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cafe-au-lait spot	Likely pathogenic; Pathogenic	rs766433101	RCV001003812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay	Pathogenic	rs373145711	RCV000415151	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Likely pathogenic; Pathogenic	rs750318549	RCV006254070	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
dystrophia	Pathogenic	rs373145711	RCV000415151	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ependymoma	Likely pathogenic; Pathogenic	rs750318549	RCV006254069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile myelomonocytic leukemia	Likely pathogenic; Pathogenic	rs766433101	RCV001003812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1221031683	RCV001252687	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Pathogenic	rs1261178797	RCV000660864	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome	Likely pathogenic; Pathogenic	rs2515557358, rs2515584691, rs373145711, rs1555912897, rs373221034, rs1600586587	RCV002283630 RCV003883375 RCV001199371 RCV002499012 RCV003147544 RCV004768766 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs777537805, rs750318549	RCV006273696 RCV005230955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs2011867276	RCV001264722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary brain neoplasm	Pathogenic	rs1366953593	RCV006254407	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rubinstein Taybi like syndrome	Pathogenic; Likely pathogenic	rs754129466, rs2011901554	RCV001261776 RCV001261775	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs376029425	RCV005912655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

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.
Acute myeloid leukemia	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOHRING SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC MYELOMONOCYTIC LEUKEMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	-; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Floppy infant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate global developmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC NEOPLASM	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (264)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29729583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	20880116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22488406, 22912701, 23099237, 25592059, 27881874, 28063196, 29411666, 29417354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	26285909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34536950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive systemic mastocytosis	Systemic Mastocytosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29643185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32243522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	25139356, 26132940, 34587721, 37087521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35731275, 35766510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	20678218, 26874914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	24218140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30032927, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30032927, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	28935248, 30055055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34125889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	20334914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35724849, 38598228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30457024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36864496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	37558665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	25850813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	20410925, 25850813, 31640815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring-Opitz syndrome	BEFREE	21706002, 24218140, 24255920, 25921057, 26095772, 26364555, 26506440, 27075689, 27237378, 28229513, 31006630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring-Opitz syndrome	GENOMICS_ENGLAND_DG	21706002, 22419483, 28107566		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring-Opitz syndrome	CTD_human_DG	21706002		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring-Opitz syndrome	ORPHANET_DG	21706002		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring syndrome	Pubtator	22186017, 25921057, 31819025, 31969346, 33751773, 35119035, 35435261, 37053013, 39423952, 39614348	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring-Opitz syndrome	CLINVAR_DG	25131622, 26633542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring-Opitz syndrome	Bohring-Opitz Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bone Marrow Diseases	Bone marrow diseases	Pubtator	34529785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	30940907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32374727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28055972, 28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24011025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38043790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25426837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	35129130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myelomonocytic leukemia	Myelomonocytic Leukemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20068184, 20428194, 21904853, 22436456, 22898539, 23009937, 23628959, 24255920, 28419183, 30515738, 30706327, 31473630, 31704857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	25575036, 25850813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	37558665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21209843, 28675510, 30804124, 34577783, 39984049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27693232, 37053013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25592059, 29411666, 30055055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24255920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28636844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28636844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39460851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34125889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28636844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30457024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	29866652, 34210413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31344030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28911255, 30124451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28847794, 29078029, 30032927, 30309805, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	22419483, 26364555, 26506440, 26768331, 27075689, 28229513, 29681100, 31006630, 31692235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	22287508, 31006630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22287508, 39614348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	32066200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	31167116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24255920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28954882, 31133973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15040442, 21368916, 21706002, 22419483, 22436456, 25921057, 26364555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	27693232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31969346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32375686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27447873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28911255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30165126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	GATA2 Deficiency	BEFREE	24077845		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	24077845, 34529785, 37103105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	31221723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glabellar hemangioma	Glabellar hemangioma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32680567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	34596815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Defects Congenital	Congenital heart defect	Pubtator	37053013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34210413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	27717004, 28424163, 31350794, 37103105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24216483, 26286068, 26700326, 30222780, 30515738, 30706327, 31744691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	27616637, 30222780, 34570179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	28697759, 29967380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10967573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	24465546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	27174585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	37053013	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	36485103	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30109466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31039157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26506440, 27693232		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31969346, 37053013	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Volvulus	Intestinal Volvulus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	33822276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	20408841, 22773603, 23531518, 24077845, 24164563, 24216483, 24695057, 26771811, 27077763, 29023302, 30027691		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	GENOMICS_ENGLAND_DG	28107566		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	36282402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19388938, 24216483, 28516957, 31638252, 31640815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21712540, 24011025, 25326804, 27991718, 29532865, 32078680, 32683582, 34548471, 37591941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	28255023, 36094848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	21346257, 24077845, 24465546, 37053013, 39614348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20068184, 20678218, 20693432, 21712540, 21881046, 22031865, 22058207, 22371884, 22417203, 22507776, 22535592, 22581002, 22912701, 22929312, 23365461 View all (61 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	19388938, 20408841, 20880116, 21828135, 23065512, 24077845, 24595958, 25555161, 25850813, 26648538, 26771811, 27385790, 27486981, 28548124, 28555081 View all (10 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	20408841, 20955399, 22773603, 38385260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	25850813, 31315541, 33822276, 34068566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10653868, 20068184, 20678218, 20693432, 21576631, 21712540, 21881046, 21917154, 22058207, 22371884, 22436456, 22488406, 22507776, 22912701, 22929312 View all (27 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	26637732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	19388938, 20880116, 22436456, 22773603, 22878500, 23531518, 23690417, 24077845, 24164563, 24216483, 24695057, 25575034, 25850813, 26122388, 26771811 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	24465546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39423952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24011025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22287508, 25326804, 35533245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10967573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	27693232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24011025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19388938, 20408841, 20693432, 22058207, 22271902, 22436456, 22897849, 23736028, 23760684, 24218139, 24218140, 24255920, 25921057, 26437366, 26623729 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	22905207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	22905207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	22905207, 23958953, 24465546, 27214377, 28424161, 30152525, 30373888, 31151985, 31509472, 33391475, 37309222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	24465546, 27214377, 27416984, 29341334		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23736028, 31173190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28847794, 29078029, 30032927, 30309805, 31561398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30772903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31173190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25306901, 31312376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15040442, 21368916, 21706002, 22419483, 22436456, 25921057, 26364555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30583273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15040442, 21368916, 21706002, 22419483, 22436456, 25921057, 26364555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12877670, 29970342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24077845, 24216483, 24218140, 24903747, 29532865		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Myelodysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19388938, 20573398, 21576631, 21714648, 22271902, 22436456, 22826563, 22897849, 23099237, 23394086, 23645565, 23660859, 24077845, 24216483, 24218139 View all (33 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	27992414		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28107566		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19388938, 20334914, 20678218, 21714648, 23831921, 24115220, 24220272, 25092778, 25428262, 25574665, 26508027, 27527853, 27616637, 27717004, 27992414 View all (43 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	28188970, 30618061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	21712540, 24011025, 26714837, 26825696, 28389256, 28754985, 29515114, 29515238, 30459458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	24077845, 26095772, 28701722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20410925, 26623729, 27640403, 28667884, 31640815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	21712540, 21904853, 22436456, 23009937, 24255920, 26182311, 30515738, 30706327, 31473630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	19388938, 27415155, 30004110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19388938, 24255920, 24704113, 25306901, 26437366, 26623729, 26714837, 26883102, 28027687, 28516957, 28675510, 29532865, 29556021, 30013160, 30222780 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	25921057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22535592, 24077845, 25412851, 25860933, 29532865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	24465546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	24465546, 35766510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	31006630		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28671143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28735797, 30902528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31969346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	26768331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27237378, 30266822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30165126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30485824, 34963005, 36721777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35238112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	26364555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	30301403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28185758, 28247193, 28320196, 28735797, 28911255, 29042162, 29273705, 29380907, 29572948, 29891223, 30147869, 30564614, 30718220, 30737581, 30856121 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29625875, 31060986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	27986830, 31665686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	22869879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	30804124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	21712540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	38244120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	21712540, 21904853, 22106054, 22489043, 23066032, 27447873, 28419183, 28778261, 29515238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	21712540, 27447873, 27991718, 28419183, 32066200, 35435261, 37126762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28911255, 30124451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	21712540, 21904853, 23066032, 24011025, 24402162, 24496303, 24549259, 25252869, 26182311, 26714837, 26825696, 27756071, 28389256, 28419183, 28754985 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	31665686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23736028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	33822276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28735797, 30902528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	20678218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	28188970, 30618061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30811101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30389914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	31089247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	20428194, 25006131, 25596267, 27983727, 28027687, 29411666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shwachman syndrome	Shwachman Syndrome	BEFREE	15642668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30373888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	35830182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	31060986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	30373888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34507355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease	ORPHANET_DG	25567135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic mastocytosis with associated hematologic neoplasm	Systemic Mastocytosis With Associated Hematologic Neoplasm	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	35301278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	21712540, 21904853, 22106054, 22489043, 22706669, 23066032, 27447873, 28211153, 28419183, 28778261, 29725364, 31704857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	25850813, 30373888, 35731275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	21712540, 35129130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	35733370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	25482724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25482724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26364555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28052545		★★★★★ ★☆☆☆☆ 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
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	34847227, 37839675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	25921057, 28825729, 37053013, 37756569	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ASXL1 (ASXL transcriptional regulator 1)