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TLK2 (tousled like kinase 2)

Gene

11011

Tousled like kinase 2

TLK2

HsHPK, MRD57, PKU-ALPHA

17q23.2

This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 c

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138247472	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs758726258	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant
rs1057524147	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1283838287	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555639317	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555644480	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555651572	T>G	Pathogenic	Splice donor variant
rs1555660806	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555661506	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567758622	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567844041	C>T	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1567844114	G>T	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1567870541	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1567920106	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1567920209	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567974030	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1567995650	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1568003569	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568006217	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1568014839	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568015106	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568015131	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568018905	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1568027692	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1598432041	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598620094	G>A,C	Pathogenic	Splice donor variant
rs1598676325	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598940393	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1598940661	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(498)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038762	hsa-miR-93-3p	CLASH	23622248
MIRT525262	hsa-miR-4499	PAR-CLIP	22012620
MIRT525261	hsa-miR-4494	PAR-CLIP	22012620
MIRT525260	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT525259	hsa-miR-4695-3p	PAR-CLIP	22012620
MIRT525258	hsa-miR-7641	PAR-CLIP	22012620
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT497084	hsa-miR-3156-5p	PAR-CLIP	22291592
MIRT497083	hsa-miR-6078	PAR-CLIP	22291592
MIRT497082	hsa-miR-623	PAR-CLIP	22291592
MIRT497081	hsa-miR-204-5p	PAR-CLIP	22291592
MIRT497080	hsa-miR-211-5p	PAR-CLIP	22291592
MIRT497079	hsa-miR-4755-5p	PAR-CLIP	22291592
MIRT497078	hsa-miR-5006-3p	PAR-CLIP	22291592
MIRT508247	hsa-miR-1538	PAR-CLIP	27292025
MIRT508247	hsa-miR-1538	PAR-CLIP	27292025
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	27292025
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	27292025
MIRT508253	hsa-miR-4438	PAR-CLIP	27292025
MIRT508253	hsa-miR-4438	PAR-CLIP	27292025
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	27292025
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	27292025
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	27292025
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	27292025
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	27292025
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	27292025
MIRT508246	hsa-miR-5095	PAR-CLIP	27292025
MIRT508246	hsa-miR-5095	PAR-CLIP	27292025
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	27292025
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	27292025
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	27292025
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	27292025
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	27292025
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	27292025
MIRT525262	hsa-miR-4499	PAR-CLIP	22012620
MIRT525261	hsa-miR-4494	PAR-CLIP	22012620
MIRT525260	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT525259	hsa-miR-4695-3p	PAR-CLIP	22012620
MIRT525258	hsa-miR-7641	PAR-CLIP	22012620
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT508254	hsa-miR-6776-3p	PAR-CLIP	23446348
MIRT508253	hsa-miR-4438	PAR-CLIP	23446348
MIRT508251	hsa-miR-1911-3p	PAR-CLIP	23446348
MIRT508252	hsa-miR-4747-3p	PAR-CLIP	23446348
MIRT508250	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT508249	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT508247	hsa-miR-1538	PAR-CLIP	23446348
MIRT508248	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT508246	hsa-miR-5095	PAR-CLIP	23446348
MIRT508245	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT497084	hsa-miR-3156-5p	PAR-CLIP	22291592
MIRT497083	hsa-miR-6078	PAR-CLIP	22291592
MIRT497082	hsa-miR-623	PAR-CLIP	22291592
MIRT497081	hsa-miR-204-5p	PAR-CLIP	22291592
MIRT497080	hsa-miR-211-5p	PAR-CLIP	22291592
MIRT497079	hsa-miR-4755-5p	PAR-CLIP	22291592
MIRT497078	hsa-miR-5006-3p	PAR-CLIP	22291592
MIRT1426453	hsa-miR-101	CLIP-seq
MIRT1426454	hsa-miR-1203	CLIP-seq
MIRT1426455	hsa-miR-1273	CLIP-seq
MIRT1426456	hsa-miR-1275	CLIP-seq
MIRT1426457	hsa-miR-128	CLIP-seq
MIRT1426458	hsa-miR-1297	CLIP-seq
MIRT1426459	hsa-miR-1305	CLIP-seq
MIRT1426460	hsa-miR-1470	CLIP-seq
MIRT1426461	hsa-miR-1827	CLIP-seq
MIRT1426462	hsa-miR-217	CLIP-seq
MIRT1426463	hsa-miR-22	CLIP-seq
MIRT1426464	hsa-miR-2276	CLIP-seq
MIRT1426465	hsa-miR-26a	CLIP-seq
MIRT1426466	hsa-miR-26b	CLIP-seq
MIRT1426467	hsa-miR-27a	CLIP-seq
MIRT1426468	hsa-miR-27b	CLIP-seq
MIRT1426469	hsa-miR-3143	CLIP-seq
MIRT1426470	hsa-miR-3150b-3p	CLIP-seq
MIRT1426471	hsa-miR-3155	CLIP-seq
MIRT1426472	hsa-miR-3155b	CLIP-seq
MIRT1426473	hsa-miR-3166	CLIP-seq
MIRT1426474	hsa-miR-3183	CLIP-seq
MIRT1426475	hsa-miR-3185	CLIP-seq
MIRT1426476	hsa-miR-3188	CLIP-seq
MIRT1426477	hsa-miR-320e	CLIP-seq
MIRT1426478	hsa-miR-3611	CLIP-seq
MIRT1426479	hsa-miR-3669	CLIP-seq
MIRT1426480	hsa-miR-3671	CLIP-seq
MIRT1426481	hsa-miR-3688-5p	CLIP-seq
MIRT1426482	hsa-miR-3922-5p	CLIP-seq
MIRT1426483	hsa-miR-4255	CLIP-seq
MIRT1426484	hsa-miR-4257	CLIP-seq
MIRT1426485	hsa-miR-4271	CLIP-seq
MIRT1426486	hsa-miR-4289	CLIP-seq
MIRT1426487	hsa-miR-4465	CLIP-seq
MIRT1426488	hsa-miR-4469	CLIP-seq
MIRT1426489	hsa-miR-4474-3p	CLIP-seq
MIRT1426490	hsa-miR-4475	CLIP-seq
MIRT1426491	hsa-miR-451b	CLIP-seq
MIRT1426492	hsa-miR-4528	CLIP-seq
MIRT1426493	hsa-miR-4649-3p	CLIP-seq
MIRT1426494	hsa-miR-4665-5p	CLIP-seq
MIRT1426495	hsa-miR-4667-3p	CLIP-seq
MIRT1426496	hsa-miR-4684-5p	CLIP-seq
MIRT1426497	hsa-miR-4689	CLIP-seq
MIRT1426498	hsa-miR-4716-5p	CLIP-seq
MIRT1426499	hsa-miR-4723-3p	CLIP-seq
MIRT1426500	hsa-miR-4725-3p	CLIP-seq
MIRT1426501	hsa-miR-4736	CLIP-seq
MIRT1426502	hsa-miR-4743	CLIP-seq
MIRT1426503	hsa-miR-4747-5p	CLIP-seq
MIRT1426504	hsa-miR-4766-3p	CLIP-seq
MIRT1426505	hsa-miR-4771	CLIP-seq
MIRT1426506	hsa-miR-4772-3p	CLIP-seq
MIRT1426507	hsa-miR-4784	CLIP-seq
MIRT1426508	hsa-miR-4802-3p	CLIP-seq
MIRT1426509	hsa-miR-484	CLIP-seq
MIRT1426510	hsa-miR-491-3p	CLIP-seq
MIRT1426511	hsa-miR-498	CLIP-seq
MIRT1426512	hsa-miR-513a-5p	CLIP-seq
MIRT1426513	hsa-miR-543	CLIP-seq
MIRT1426514	hsa-miR-548a-5p	CLIP-seq
MIRT1426515	hsa-miR-548ab	CLIP-seq
MIRT1426516	hsa-miR-548ak	CLIP-seq
MIRT1426517	hsa-miR-548b-5p	CLIP-seq
MIRT1426518	hsa-miR-548c-5p	CLIP-seq
MIRT1426519	hsa-miR-548d-5p	CLIP-seq
MIRT1426520	hsa-miR-548h	CLIP-seq
MIRT1426521	hsa-miR-548i	CLIP-seq
MIRT1426522	hsa-miR-548j	CLIP-seq
MIRT1426523	hsa-miR-548k	CLIP-seq
MIRT1426524	hsa-miR-548l	CLIP-seq
MIRT1426525	hsa-miR-548u	CLIP-seq
MIRT1426526	hsa-miR-548w	CLIP-seq
MIRT1426527	hsa-miR-548y	CLIP-seq
MIRT1426528	hsa-miR-558	CLIP-seq
MIRT1426529	hsa-miR-559	CLIP-seq
MIRT1426530	hsa-miR-607	CLIP-seq
MIRT1426531	hsa-miR-616	CLIP-seq
MIRT1426532	hsa-miR-624	CLIP-seq
MIRT1426533	hsa-miR-625	CLIP-seq
MIRT1426534	hsa-miR-627	CLIP-seq
MIRT1426535	hsa-miR-642a	CLIP-seq
MIRT1426536	hsa-miR-802	CLIP-seq
MIRT1426537	hsa-miR-924	CLIP-seq
MIRT1426538	hsa-miR-940	CLIP-seq
MIRT1426453	hsa-miR-101	CLIP-seq
MIRT1426539	hsa-miR-103a	CLIP-seq
MIRT1426540	hsa-miR-107	CLIP-seq
MIRT1426541	hsa-miR-1234	CLIP-seq
MIRT1426542	hsa-miR-1245	CLIP-seq
MIRT1426543	hsa-miR-1245b-3p	CLIP-seq
MIRT1426544	hsa-miR-125a-5p	CLIP-seq
MIRT1426545	hsa-miR-125b	CLIP-seq
MIRT1426546	hsa-miR-1273d	CLIP-seq
MIRT1426457	hsa-miR-128	CLIP-seq
MIRT1426458	hsa-miR-1297	CLIP-seq
MIRT1426459	hsa-miR-1305	CLIP-seq
MIRT1426547	hsa-miR-186	CLIP-seq
MIRT1426548	hsa-miR-197	CLIP-seq
MIRT1426549	hsa-miR-1976	CLIP-seq
MIRT1426550	hsa-miR-21	CLIP-seq
MIRT1426462	hsa-miR-217	CLIP-seq
MIRT1426464	hsa-miR-2276	CLIP-seq
MIRT1426551	hsa-miR-2355-3p	CLIP-seq
MIRT1426465	hsa-miR-26a	CLIP-seq
MIRT1426466	hsa-miR-26b	CLIP-seq
MIRT1426467	hsa-miR-27a	CLIP-seq
MIRT1426468	hsa-miR-27b	CLIP-seq
MIRT1426552	hsa-miR-2909	CLIP-seq
MIRT1426553	hsa-miR-3133	CLIP-seq
MIRT1426554	hsa-miR-3148	CLIP-seq
MIRT1426555	hsa-miR-3162-5p	CLIP-seq
MIRT1426556	hsa-miR-3199	CLIP-seq
MIRT1426557	hsa-miR-329	CLIP-seq
MIRT1426558	hsa-miR-3606	CLIP-seq
MIRT1426559	hsa-miR-3609	CLIP-seq
MIRT1426560	hsa-miR-362-3p	CLIP-seq
MIRT1426561	hsa-miR-371-3p	CLIP-seq
MIRT1426562	hsa-miR-3714	CLIP-seq
MIRT1426563	hsa-miR-371b-3p	CLIP-seq
MIRT1426564	hsa-miR-3942-3p	CLIP-seq
MIRT1426565	hsa-miR-3978	CLIP-seq
MIRT1426566	hsa-miR-4279	CLIP-seq
MIRT1426567	hsa-miR-4282	CLIP-seq
MIRT1426568	hsa-miR-4286	CLIP-seq
MIRT1426569	hsa-miR-4310	CLIP-seq
MIRT1426570	hsa-miR-4319	CLIP-seq
MIRT1426571	hsa-miR-432	CLIP-seq
MIRT1426572	hsa-miR-4436b-5p	CLIP-seq
MIRT1426487	hsa-miR-4465	CLIP-seq
MIRT1426573	hsa-miR-4520a-3p	CLIP-seq
MIRT1426574	hsa-miR-4532	CLIP-seq
MIRT1426575	hsa-miR-455-5p	CLIP-seq
MIRT1426576	hsa-miR-4637	CLIP-seq
MIRT1426577	hsa-miR-4646-3p	CLIP-seq
MIRT1426578	hsa-miR-4646-5p	CLIP-seq
MIRT1426579	hsa-miR-4670-3p	CLIP-seq
MIRT1426498	hsa-miR-4716-5p	CLIP-seq
MIRT1426580	hsa-miR-4722-3p	CLIP-seq
MIRT1426503	hsa-miR-4747-5p	CLIP-seq
MIRT1426581	hsa-miR-4768-3p	CLIP-seq
MIRT1426506	hsa-miR-4772-3p	CLIP-seq
MIRT1426582	hsa-miR-4786-5p	CLIP-seq
MIRT1426508	hsa-miR-4802-3p	CLIP-seq
MIRT1426583	hsa-miR-490-5p	CLIP-seq
MIRT1426584	hsa-miR-495	CLIP-seq
MIRT1426511	hsa-miR-498	CLIP-seq
MIRT1426585	hsa-miR-5096	CLIP-seq
MIRT1426512	hsa-miR-513a-5p	CLIP-seq
MIRT1426586	hsa-miR-515-3p	CLIP-seq
MIRT1426587	hsa-miR-518a-5p	CLIP-seq
MIRT1426588	hsa-miR-519e	CLIP-seq
MIRT1426589	hsa-miR-527	CLIP-seq
MIRT1426590	hsa-miR-548ah	CLIP-seq
MIRT1426591	hsa-miR-548b-3p	CLIP-seq
MIRT1426592	hsa-miR-548t	CLIP-seq
MIRT1426593	hsa-miR-590-5p	CLIP-seq
MIRT1426594	hsa-miR-618	CLIP-seq
MIRT1426534	hsa-miR-627	CLIP-seq
MIRT1426595	hsa-miR-640	CLIP-seq
MIRT1426596	hsa-miR-7	CLIP-seq
MIRT1426597	hsa-miR-921	CLIP-seq
MIRT1426537	hsa-miR-924	CLIP-seq
MIRT1426538	hsa-miR-940	CLIP-seq
MIRT1426598	hsa-miR-95	CLIP-seq
MIRT1921835	hsa-miR-4251	CLIP-seq
MIRT1921836	hsa-miR-4303	CLIP-seq
MIRT1921837	hsa-miR-4329	CLIP-seq
MIRT1921838	hsa-miR-4762-3p	CLIP-seq
MIRT1921835	hsa-miR-4251	CLIP-seq
MIRT1921836	hsa-miR-4303	CLIP-seq
MIRT1921837	hsa-miR-4329	CLIP-seq
MIRT1921838	hsa-miR-4762-3p	CLIP-seq
MIRT2127755	hsa-miR-1	CLIP-seq
MIRT2127756	hsa-miR-1184	CLIP-seq
MIRT2127757	hsa-miR-1197	CLIP-seq
MIRT2127758	hsa-miR-1208	CLIP-seq
MIRT2127759	hsa-miR-1270	CLIP-seq
MIRT2127760	hsa-miR-1271	CLIP-seq
MIRT2127761	hsa-miR-1273f	CLIP-seq
MIRT1426457	hsa-miR-128	CLIP-seq
MIRT2127762	hsa-miR-1301	CLIP-seq
MIRT1426459	hsa-miR-1305	CLIP-seq
MIRT2127763	hsa-miR-143	CLIP-seq
MIRT2127764	hsa-miR-182	CLIP-seq
MIRT2127765	hsa-miR-185	CLIP-seq
MIRT2127766	hsa-miR-206	CLIP-seq
MIRT2127767	hsa-miR-2113	CLIP-seq
MIRT1426462	hsa-miR-217	CLIP-seq
MIRT2127768	hsa-miR-218	CLIP-seq
MIRT2127769	hsa-miR-221	CLIP-seq
MIRT2127770	hsa-miR-222	CLIP-seq
MIRT2127771	hsa-miR-2278	CLIP-seq
MIRT1426551	hsa-miR-2355-3p	CLIP-seq
MIRT2127772	hsa-miR-3064-3p	CLIP-seq
MIRT2127773	hsa-miR-3117-5p	CLIP-seq
MIRT2127774	hsa-miR-3126-5p	CLIP-seq
MIRT2127775	hsa-miR-3132	CLIP-seq
MIRT2127776	hsa-miR-3135	CLIP-seq
MIRT2127777	hsa-miR-3145-5p	CLIP-seq
MIRT2127778	hsa-miR-3150a-5p	CLIP-seq
MIRT2127779	hsa-miR-3150b-5p	CLIP-seq
MIRT2127780	hsa-miR-3162-3p	CLIP-seq
MIRT2127781	hsa-miR-3163	CLIP-seq
MIRT2127782	hsa-miR-3174	CLIP-seq
MIRT2127783	hsa-miR-3673	CLIP-seq
MIRT2127784	hsa-miR-376a	CLIP-seq
MIRT2127785	hsa-miR-376b	CLIP-seq
MIRT2127786	hsa-miR-3920	CLIP-seq
MIRT2127787	hsa-miR-3929	CLIP-seq
MIRT1921835	hsa-miR-4251	CLIP-seq
MIRT2127788	hsa-miR-4276	CLIP-seq
MIRT1426566	hsa-miR-4279	CLIP-seq
MIRT1426486	hsa-miR-4289	CLIP-seq
MIRT1921836	hsa-miR-4303	CLIP-seq
MIRT2127789	hsa-miR-4306	CLIP-seq
MIRT2127790	hsa-miR-4317	CLIP-seq
MIRT1921837	hsa-miR-4329	CLIP-seq
MIRT2127791	hsa-miR-4419a	CLIP-seq
MIRT2127792	hsa-miR-4419b	CLIP-seq
MIRT2127793	hsa-miR-4423-5p	CLIP-seq
MIRT2127794	hsa-miR-4436b-3p	CLIP-seq
MIRT1426572	hsa-miR-4436b-5p	CLIP-seq
MIRT2127795	hsa-miR-4446-5p	CLIP-seq
MIRT2127796	hsa-miR-4478	CLIP-seq
MIRT2127797	hsa-miR-4510	CLIP-seq
MIRT2127798	hsa-miR-4531	CLIP-seq
MIRT2127799	hsa-miR-4642	CLIP-seq
MIRT2127800	hsa-miR-4644	CLIP-seq
MIRT1426577	hsa-miR-4646-3p	CLIP-seq
MIRT2127801	hsa-miR-4650-3p	CLIP-seq
MIRT2127802	hsa-miR-4660	CLIP-seq
MIRT2127803	hsa-miR-4668-3p	CLIP-seq
MIRT2127804	hsa-miR-4691-3p	CLIP-seq
MIRT2127805	hsa-miR-4708-5p	CLIP-seq
MIRT2127806	hsa-miR-4715-3p	CLIP-seq
MIRT2127807	hsa-miR-4727-5p	CLIP-seq
MIRT1921838	hsa-miR-4762-3p	CLIP-seq
MIRT2127808	hsa-miR-4770	CLIP-seq
MIRT2127809	hsa-miR-4774-3p	CLIP-seq
MIRT2127810	hsa-miR-4775	CLIP-seq
MIRT2127811	hsa-miR-488	CLIP-seq
MIRT1426511	hsa-miR-498	CLIP-seq
MIRT2127812	hsa-miR-5047	CLIP-seq
MIRT2127813	hsa-miR-509-3p	CLIP-seq
MIRT2127814	hsa-miR-548v	CLIP-seq
MIRT2127815	hsa-miR-570	CLIP-seq
MIRT2127816	hsa-miR-577	CLIP-seq
MIRT2127817	hsa-miR-613	CLIP-seq
MIRT2127818	hsa-miR-620	CLIP-seq
MIRT2127819	hsa-miR-645	CLIP-seq
MIRT2127820	hsa-miR-96	CLIP-seq
MIRT1426544	hsa-miR-125a-5p	CLIP-seq
MIRT1426545	hsa-miR-125b	CLIP-seq
MIRT2127761	hsa-miR-1273f	CLIP-seq
MIRT1426457	hsa-miR-128	CLIP-seq
MIRT2349504	hsa-miR-1281	CLIP-seq
MIRT1426459	hsa-miR-1305	CLIP-seq
MIRT2349505	hsa-miR-1343	CLIP-seq
MIRT2127763	hsa-miR-143	CLIP-seq
MIRT2349506	hsa-miR-181a	CLIP-seq
MIRT2349507	hsa-miR-181b	CLIP-seq
MIRT2349508	hsa-miR-181c	CLIP-seq
MIRT2349509	hsa-miR-181d	CLIP-seq
MIRT1426549	hsa-miR-1976	CLIP-seq
MIRT1426464	hsa-miR-2276	CLIP-seq
MIRT2127771	hsa-miR-2278	CLIP-seq
MIRT2127774	hsa-miR-3126-5p	CLIP-seq
MIRT1426470	hsa-miR-3150b-3p	CLIP-seq
MIRT2127780	hsa-miR-3162-3p	CLIP-seq
MIRT2349510	hsa-miR-3180-5p	CLIP-seq
MIRT1426556	hsa-miR-3199	CLIP-seq
MIRT1426557	hsa-miR-329	CLIP-seq
MIRT1426560	hsa-miR-362-3p	CLIP-seq
MIRT2349511	hsa-miR-4262	CLIP-seq
MIRT1426566	hsa-miR-4279	CLIP-seq
MIRT1426570	hsa-miR-4319	CLIP-seq
MIRT2127791	hsa-miR-4419a	CLIP-seq
MIRT2127795	hsa-miR-4446-5p	CLIP-seq
MIRT2127797	hsa-miR-4510	CLIP-seq
MIRT1426574	hsa-miR-4532	CLIP-seq
MIRT2127804	hsa-miR-4691-3p	CLIP-seq
MIRT2127805	hsa-miR-4708-5p	CLIP-seq
MIRT1426580	hsa-miR-4722-3p	CLIP-seq
MIRT1426581	hsa-miR-4768-3p	CLIP-seq
MIRT2127808	hsa-miR-4770	CLIP-seq
MIRT1426506	hsa-miR-4772-3p	CLIP-seq
MIRT1426507	hsa-miR-4784	CLIP-seq
MIRT1426582	hsa-miR-4786-5p	CLIP-seq
MIRT1426512	hsa-miR-513a-5p	CLIP-seq
MIRT1426587	hsa-miR-518a-5p	CLIP-seq
MIRT2349512	hsa-miR-520a-5p	CLIP-seq
MIRT2349513	hsa-miR-525-5p	CLIP-seq
MIRT1426589	hsa-miR-527	CLIP-seq
MIRT2349514	hsa-miR-552	CLIP-seq
MIRT1426534	hsa-miR-627	CLIP-seq
MIRT2349515	hsa-miR-765	CLIP-seq
MIRT1426537	hsa-miR-924	CLIP-seq
MIRT1426557	hsa-miR-329	CLIP-seq
MIRT1426560	hsa-miR-362-3p	CLIP-seq
MIRT2642958	hsa-miR-1193	CLIP-seq
MIRT1426454	hsa-miR-1203	CLIP-seq
MIRT2642959	hsa-miR-1246	CLIP-seq
MIRT2127760	hsa-miR-1271	CLIP-seq
MIRT2127761	hsa-miR-1273f	CLIP-seq
MIRT2349504	hsa-miR-1281	CLIP-seq
MIRT2642960	hsa-miR-1288	CLIP-seq
MIRT2349505	hsa-miR-1343	CLIP-seq
MIRT2127763	hsa-miR-143	CLIP-seq
MIRT2642961	hsa-miR-150	CLIP-seq
MIRT2349506	hsa-miR-181a	CLIP-seq
MIRT2349507	hsa-miR-181b	CLIP-seq
MIRT2349508	hsa-miR-181c	CLIP-seq
MIRT2349509	hsa-miR-181d	CLIP-seq
MIRT2127764	hsa-miR-182	CLIP-seq
MIRT2642962	hsa-miR-1908	CLIP-seq
MIRT2642963	hsa-miR-203	CLIP-seq
MIRT1426463	hsa-miR-22	CLIP-seq
MIRT2642964	hsa-miR-3123	CLIP-seq
MIRT2127774	hsa-miR-3126-5p	CLIP-seq
MIRT1426553	hsa-miR-3133	CLIP-seq
MIRT2127778	hsa-miR-3150a-5p	CLIP-seq
MIRT2127779	hsa-miR-3150b-5p	CLIP-seq
MIRT2642965	hsa-miR-3153	CLIP-seq
MIRT2642966	hsa-miR-3169	CLIP-seq
MIRT2642967	hsa-miR-3175	CLIP-seq
MIRT2349510	hsa-miR-3180-5p	CLIP-seq
MIRT1426557	hsa-miR-329	CLIP-seq
MIRT2642968	hsa-miR-3613-3p	CLIP-seq
MIRT1426560	hsa-miR-362-3p	CLIP-seq
MIRT2642969	hsa-miR-3685	CLIP-seq
MIRT2127784	hsa-miR-376a	CLIP-seq
MIRT2127785	hsa-miR-376b	CLIP-seq
MIRT2642970	hsa-miR-384	CLIP-seq
MIRT2642971	hsa-miR-3919	CLIP-seq
MIRT1426482	hsa-miR-3922-5p	CLIP-seq
MIRT2349511	hsa-miR-4262	CLIP-seq
MIRT1426566	hsa-miR-4279	CLIP-seq
MIRT2642972	hsa-miR-4307	CLIP-seq
MIRT2127791	hsa-miR-4419a	CLIP-seq
MIRT2127797	hsa-miR-4510	CLIP-seq
MIRT2642973	hsa-miR-4639-5p	CLIP-seq
MIRT2127799	hsa-miR-4642	CLIP-seq
MIRT2642974	hsa-miR-4668-5p	CLIP-seq
MIRT2127805	hsa-miR-4708-5p	CLIP-seq
MIRT2127807	hsa-miR-4727-5p	CLIP-seq
MIRT1426502	hsa-miR-4743	CLIP-seq
MIRT2642975	hsa-miR-4750	CLIP-seq
MIRT2642976	hsa-miR-4756-3p	CLIP-seq
MIRT1426581	hsa-miR-4768-3p	CLIP-seq
MIRT2127808	hsa-miR-4770	CLIP-seq
MIRT1426582	hsa-miR-4786-5p	CLIP-seq
MIRT1426587	hsa-miR-518a-5p	CLIP-seq
MIRT2349512	hsa-miR-520a-5p	CLIP-seq
MIRT2349513	hsa-miR-525-5p	CLIP-seq
MIRT1426589	hsa-miR-527	CLIP-seq
MIRT2642977	hsa-miR-544	CLIP-seq
MIRT2642978	hsa-miR-548c-3p	CLIP-seq
MIRT1426528	hsa-miR-558	CLIP-seq
MIRT2642979	hsa-miR-580	CLIP-seq
MIRT1426530	hsa-miR-607	CLIP-seq
MIRT1426532	hsa-miR-624	CLIP-seq
MIRT2642980	hsa-miR-626	CLIP-seq
MIRT2642981	hsa-miR-630	CLIP-seq
MIRT2642982	hsa-miR-663	CLIP-seq
MIRT2642983	hsa-miR-744	CLIP-seq
MIRT2127820	hsa-miR-96	CLIP-seq
MIRT1426454	hsa-miR-1203	CLIP-seq
MIRT2349504	hsa-miR-1281	CLIP-seq
MIRT2349505	hsa-miR-1343	CLIP-seq
MIRT2642962	hsa-miR-1908	CLIP-seq
MIRT1426463	hsa-miR-22	CLIP-seq
MIRT2127778	hsa-miR-3150a-5p	CLIP-seq
MIRT2127779	hsa-miR-3150b-5p	CLIP-seq
MIRT2642967	hsa-miR-3175	CLIP-seq
MIRT2349510	hsa-miR-3180-5p	CLIP-seq
MIRT2642968	hsa-miR-3613-3p	CLIP-seq
MIRT2642969	hsa-miR-3685	CLIP-seq
MIRT2642970	hsa-miR-384	CLIP-seq
MIRT1426482	hsa-miR-3922-5p	CLIP-seq
MIRT1426566	hsa-miR-4279	CLIP-seq
MIRT2642973	hsa-miR-4639-5p	CLIP-seq
MIRT1426502	hsa-miR-4743	CLIP-seq
MIRT2642975	hsa-miR-4750	CLIP-seq
MIRT2349512	hsa-miR-520a-5p	CLIP-seq
MIRT2349513	hsa-miR-525-5p	CLIP-seq
MIRT1426528	hsa-miR-558	CLIP-seq
MIRT2642979	hsa-miR-580	CLIP-seq
MIRT1426530	hsa-miR-607	CLIP-seq
MIRT1426532	hsa-miR-624	CLIP-seq
MIRT2642980	hsa-miR-626	CLIP-seq
MIRT2642981	hsa-miR-630	CLIP-seq
MIRT2642982	hsa-miR-663	CLIP-seq
MIRT2642983	hsa-miR-744	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001672	Process	Regulation of chromatin assembly or disassembly	IBA	21873635
GO:0001672	Process	Regulation of chromatin assembly or disassembly	IDA	12660173
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12660173
GO:0005515	Function	Protein binding	IPI	21903422, 32296183
GO:0005524	Function	ATP binding	IDA	12660173
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	9427565, 10455159
GO:0005882	Component	Intermediate filament	IDA	10455159
GO:0006325	Process	Chromatin organization	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12660173
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	12660173
GO:0007049	Process	Cell cycle	IEA
GO:0007059	Process	Chromosome segregation	IBA	21873635
GO:0007059	Process	Chromosome segregation	IMP	20705056
GO:0010507	Process	Negative regulation of autophagy	NAS	22354037
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	20016786
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	20016786
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IDA	12660173
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10455159
GO:0071480	Process	Cellular response to gamma radiation	IDA	12660173
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

MIM	HGNC	e!Ensembl
608439	11842	ENSG00000146872

Protein

UniProt ID

Q86UE8

Protein name

Serine/threonine-protein kinase tousled-like 2 (EC 2.7.11.1) (HsHPK) (PKU-alpha) (Tousled-like kinase 2)

Protein function

Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation (PubMed:10523312, PubMed:11470414, PubMed:12660173, PubMed:12955071, PubMed:299550

PDB

5O0Y , 7LO0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	462 → 741	Protein kinase domain	Domain

Sequence

MMEELHSLDPRRQELLEARFTGVGVSKGPLNSESSNQSLCSVGSLSDKEVETPEKKQNDQ
RNRKRKAEPYETSQGKGTPRGHKISDYFEFAGGSAPGTSPGRSVPPVARSSPQHSLSNPL
PRRVEQPLYGLDGSAAKEATEEQSALPTLMSVMLAKPRLDTEQLAQRGAGLCFTFVSAQQ
NSPSSTGSGNTEHSCSSQKQISIQHRQTQSDLTIEKISALENSKNSDLEKKEGRIDDLLR
ANCDLRRQIDEQQKMLEKYKERLNRCVTMSKKLLIEKSKQEKMACRDKSMQDRLRLGHFT
TVRHGASFTEQWTDGYAFQNLIKQQERINSQREEIERQRKMLAKRKPPAMGQAPPATNEQ
KQRKSKTNGAENETPSSGNTELKDTAPALGAHSLLRLTLAEYHEQEEIFKLRLGHLKKEE
AEIQAELERLERVRNLHIRELKRIHNEDNSQFKDHPTLNDRYLLLHLLGRGGFSEVYKAF
DLTEQRYVAVKIHQLNKNWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDSF
CTVLEYCEGNDLDFYLKQHKLMSEKEARSIIMQIVNALKYLNEIKPPIIHYDLKPGNILL
VNGTACGEIKITDFGLSKIMDDDSYNSVDGMELTSQGAGTYWYLPPECFVVGKEPPKISN
KVDVWSVGVIFYQCLYGRKPFGHNQSQQDILQENTILKATEVQFPPKPVVTPEAKAFIRR
CLAYRKEDRIDVQQLACDPYLLPHIRKSVSTSSPAGAAIASTSGASNNSSSN

Sequence length

772

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Developmental delay	Global developmental 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
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	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	27479843, 27479843, 29861108
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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (14)

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Blepharophimosis	Blepharophimosis
Congenital epicanthus	Congenital Epicanthus
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		23911319, 10523312, 28135719, 25849321, 23869254, 27479843
High palate	Byzanthine arch palate
Hypertrichosis	Hypertrichosis
Microstomia	Microstomia
Motor delay	Clumsiness - motor delay
Obsessive-compulsive disorder	Obsessive compulsive behavior
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Posteriorly rotated ear	Posteriorly rotated ear
Ptosis	Blepharoptosis, Ptosis	rs139920573
Strabismus	Strabismus

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