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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11011
Gene name	Tousled like kinase 2
Gene symbol	TLK2
Synonyms (NCBI Gene)	HsHPKMRD57PKU-ALPHA
Chromosome	17
Chromosome location	17q23.2
Summary	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

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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

498

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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 (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12660173
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21903422, 24981860, 32296183, 33323470, 33961781, 36950384
GO:0005524	Function	ATP binding	IDA	12660173
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9427565, 10455159
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IDA	10455159
GO:0006325	Process	Chromatin organization	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12660173
GO:0006974	Process	DNA damage response	IDA	12660173
GO:0006974	Process	DNA damage response	IEA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IMP	20705056
GO:0010507	Process	Negative regulation of autophagy	NAS	22354037
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
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
GO:0035556	Process	Intracellular signal transduction	IDA	12660173
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10455159
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051647	Process	Nucleus localization	IMP	29955062
GO:0071480	Process	Cellular response to gamma radiation	IDA	12660173
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902275	Process	Regulation of chromatin organization	IDA	12660173
GO:1902275	Process	Regulation of chromatin organization	IEA

MIM	HGNC	e!Ensembl
608439	11842	ENSG00000146872

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

Tissue specificity

TISSUE SPECIFICITY: Detected in placenta, fetal liver, kidney, pancreas, heart and skeletal muscle (PubMed:9427565). Highly expressed in testis (PubMed:9427565, PubMed:9662073). Detected in spleen, thymus, colon, ovary, small intestine, prostate and perip

Sequence

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

Sequence length

772

Interactions

View interactions

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic; Pathogenic	rs2146617330	RCV005930201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2545779233	RCV003127349	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2082914686	RCV004798899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 57	Likely pathogenic; Pathogenic	rs2147165095, rs2147105351, rs2144334211, rs2144333874, rs2146204977, rs2146767502, rs2146617330, rs2546014238, rs763883046, rs2545119735, rs2546025747, rs1555660806, rs1555644480, rs1555651572, rs1567758622 View all (18 more)	RCV001353380 RCV001775176 RCV001706852 RCV001775365 RCV002077381 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2146228345, rs1598620094, rs2079641759	RCV001780072 RCV002279690 RCV001265559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2545717131	RCV001256999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TLK2-related disorder	Likely pathogenic	rs2146338937, rs2545298474	RCV004531281 RCV004538974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TLK2-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1598620094	RCV001095744	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31302748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19454617, 21607584, 27694828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19454617, 21607584, 27251275, 27489360, 29955062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34793840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	27489360	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26486455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29861108, 33323470	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10523312, 23869254, 23911319, 25849321, 27479843, 28135719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30158316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33323470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31558842, 33323470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22291905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30207834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30207834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29861108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27479843		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29955062, 33323470	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	31302748		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Diseases	Intestinal disease	Pubtator	29861108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31558842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	9662073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9662073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30158316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30158316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19454617, 21607584, 27489360, 27694828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21647934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27489360, 30207834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27694828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	33323470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	Mental retardation	UNIPROT_DG	27479843, 29861108		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	Mental retardation	CLINVAR_DG	29861108		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	Mental retardation	GENOMICS_ENGLAND_DG	29861108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31302748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33323470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30207834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12203774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29861108, 31302748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis 1	Neurofibromatosis	BEFREE	12203774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21647934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	31558842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	31558842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27489360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	31558842		★★★★★ ★☆☆☆☆ Found in Text Mining only

TLK2 (tousled like kinase 2)