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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	284058
Gene name	KAT8 regulatory NSL complex subunit 1
Gene symbol	KANSL1
Synonyms (NCBI Gene)	C17DELq21.31CENP-36DEL17Q21.31KDVSKIAA1267MSL1v1NSL1hMSL1v1
Chromosome	17
Chromosome location	17q21.31
Summary	This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34878385	C>-,CC	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs149830411	G>A	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs186818985	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic downstream transcript variant
rs281865468	G>A	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs281865469	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs281865470	C>T	Pathogenic	Splice donor variant
rs281865471	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs281865472	GGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs371321182	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs551541795	AG>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs748018297	C>-,CC	Pathogenic, uncertain-significance	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs768152581	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs796052595	C>T	Pathogenic	Splice donor variant
rs796052596	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs796052603	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs797045049	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886039733	A>-	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1057518010	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518182	CAAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518659	TTGCTCAAAGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057520050	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793433	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794038	->TC	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1064796289	TGCCCCATCACCTGCTGCCCC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1064796433	GTGGGTTGAGCAA>CAT	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1304078301	C>-,CCCC,CCCCC	Pathogenic	Inframe insertion, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1374665357	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1427624649	G>A,C	Pathogenic	Stop gained, missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555574888	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555575197	C>A	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575405	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575489	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575816	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555734136	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555753569	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567761585	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567764119	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1568366050	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597871799	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1597872089	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1597874008	T>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1598441446	CC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

502

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020287	hsa-miR-130b-3p	Sequencing	20371350
MIRT025982	hsa-miR-148a-3p	Sequencing	20371350
MIRT050951	hsa-miR-17-5p	CLASH	23622248
MIRT046344	hsa-miR-23b-3p	CLASH	23622248
MIRT045617	hsa-miR-149-5p	CLASH	23622248
MIRT044368	hsa-miR-106b-5p	CLASH	23622248
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT725298	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725297	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT725296	hsa-miR-623	HITS-CLIP	19536157
MIRT725295	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT725294	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT725293	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT725292	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT725291	hsa-miR-521	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT627930	hsa-miR-4528	HITS-CLIP	23824327
MIRT627929	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT627928	hsa-miR-8067	HITS-CLIP	23824327
MIRT627927	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT627926	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT627925	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT627924	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT627923	hsa-miR-7975	HITS-CLIP	23824327
MIRT627922	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627921	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT627920	hsa-miR-3685	HITS-CLIP	23824327
MIRT627919	hsa-miR-384	HITS-CLIP	23824327
MIRT627918	hsa-miR-3974	HITS-CLIP	23824327
MIRT627917	hsa-miR-5193	HITS-CLIP	23824327
MIRT627916	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627915	hsa-miR-3183	HITS-CLIP	23824327
MIRT627914	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT627913	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT287594	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT627912	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT475028	hsa-miR-548ac	PAR-CLIP	20371350
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT475024	hsa-miR-548z	PAR-CLIP	20371350
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	20371350
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	20371350
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	20371350
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	20371350
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	20371350
MIRT475011	hsa-miR-4282	PAR-CLIP	20371350
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT475009	hsa-miR-1272	PAR-CLIP	20371350
MIRT475008	hsa-miR-1322	PAR-CLIP	20371350
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	20371350
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	20371350
MIRT567103	hsa-miR-4700-3p	PAR-CLIP	20371350
MIRT567104	hsa-miR-4524b-3p	PAR-CLIP	20371350
MIRT077365	hsa-miR-154-3p	PAR-CLIP	20371350
MIRT077366	hsa-miR-487a-3p	PAR-CLIP	20371350
MIRT567102	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT567101	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT567100	hsa-miR-485-3p	PAR-CLIP	20371350
MIRT567099	hsa-miR-539-3p	PAR-CLIP	20371350
MIRT567098	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT556845	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493443	hsa-miR-924	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT475028	hsa-miR-548ac	PAR-CLIP	21572407
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT475024	hsa-miR-548z	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT493447	hsa-miR-155-5p	PAR-CLIP	24398324
MIRT493446	hsa-miR-3174	PAR-CLIP	24398324
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	24398324
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	24398324
MIRT493443	hsa-miR-924	PAR-CLIP	24398324
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	24398324
MIRT493441	hsa-miR-921	PAR-CLIP	24398324
MIRT493440	hsa-miR-127-5p	PAR-CLIP	24398324
MIRT493439	hsa-miR-627-5p	PAR-CLIP	24398324
MIRT493438	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT475028	hsa-miR-548ac	PAR-CLIP	24398324
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	24398324
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	24398324
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	24398324
MIRT475024	hsa-miR-548z	PAR-CLIP	24398324
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	24398324
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	24398324
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	24398324
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	24398324
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	24398324
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	24398324
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	24398324
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	24398324
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	24398324
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	24398324
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	24398324
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	24398324
MIRT475011	hsa-miR-4282	PAR-CLIP	24398324
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	24398324
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	24398324
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	24398324
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	24398324
MIRT475009	hsa-miR-1272	PAR-CLIP	24398324
MIRT475008	hsa-miR-1322	PAR-CLIP	24398324
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	24398324
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	24398324
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	24398324
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	23592263
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	23592263
MIRT493447	hsa-miR-155-5p	PAR-CLIP	23592263
MIRT493446	hsa-miR-3174	PAR-CLIP	23592263
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT493443	hsa-miR-924	PAR-CLIP	23592263
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT493441	hsa-miR-921	PAR-CLIP	23592263
MIRT493440	hsa-miR-127-5p	PAR-CLIP	23592263
MIRT493439	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT493438	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT475028	hsa-miR-548ac	PAR-CLIP	23592263
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT475024	hsa-miR-548z	PAR-CLIP	23592263
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	23592263
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	23592263
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	23592263
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	23592263
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	23592263
MIRT475011	hsa-miR-4282	PAR-CLIP	23592263
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT475009	hsa-miR-1272	PAR-CLIP	23592263
MIRT475008	hsa-miR-1322	PAR-CLIP	23592263
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	23592263
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	23592263
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	23592263
MIRT475004	hsa-miR-5683	PAR-CLIP	23592263
MIRT475003	hsa-miR-449b-3p	PAR-CLIP	23592263
MIRT475002	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT475001	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT475000	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT474999	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT474998	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT474997	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT474995	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT474996	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT474994	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT474993	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT474992	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT474991	hsa-miR-555	PAR-CLIP	23592263
MIRT474990	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT474989	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT474988	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT474987	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT474986	hsa-miR-3689c	PAR-CLIP	23592263
MIRT474985	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT474984	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT474983	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT725298	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725297	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT725296	hsa-miR-623	HITS-CLIP	19536157
MIRT725295	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT725294	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT725293	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT725292	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT725291	hsa-miR-521	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT627930	hsa-miR-4528	HITS-CLIP	23824327
MIRT627929	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT627928	hsa-miR-8067	HITS-CLIP	23824327
MIRT627927	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT627926	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT627925	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT627924	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT627923	hsa-miR-7975	HITS-CLIP	23824327
MIRT627922	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627921	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT627920	hsa-miR-3685	HITS-CLIP	23824327
MIRT627919	hsa-miR-384	HITS-CLIP	23824327
MIRT627918	hsa-miR-3974	HITS-CLIP	23824327
MIRT627917	hsa-miR-5193	HITS-CLIP	23824327
MIRT627916	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627915	hsa-miR-3183	HITS-CLIP	23824327
MIRT627914	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT627913	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT287594	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT627912	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT475028	hsa-miR-548ac	PAR-CLIP	20371350
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT475024	hsa-miR-548z	PAR-CLIP	20371350
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	20371350
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	20371350
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	20371350
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	20371350
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	20371350
MIRT475011	hsa-miR-4282	PAR-CLIP	20371350
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT475009	hsa-miR-1272	PAR-CLIP	20371350
MIRT475008	hsa-miR-1322	PAR-CLIP	20371350
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	20371350
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	20371350
MIRT567103	hsa-miR-4700-3p	PAR-CLIP	20371350
MIRT567104	hsa-miR-4524b-3p	PAR-CLIP	20371350
MIRT077365	hsa-miR-154-3p	PAR-CLIP	20371350
MIRT077366	hsa-miR-487a-3p	PAR-CLIP	20371350
MIRT567102	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT567101	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT567100	hsa-miR-485-3p	PAR-CLIP	20371350
MIRT567099	hsa-miR-539-3p	PAR-CLIP	20371350
MIRT567098	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT556845	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493443	hsa-miR-924	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT475028	hsa-miR-548ac	PAR-CLIP	21572407
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT475024	hsa-miR-548z	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT493447	hsa-miR-155-5p	PAR-CLIP	24398324
MIRT493446	hsa-miR-3174	PAR-CLIP	24398324
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	24398324
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	24398324
MIRT493443	hsa-miR-924	PAR-CLIP	24398324
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	24398324
MIRT493441	hsa-miR-921	PAR-CLIP	24398324
MIRT493440	hsa-miR-127-5p	PAR-CLIP	24398324
MIRT493439	hsa-miR-627-5p	PAR-CLIP	24398324
MIRT493438	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT475028	hsa-miR-548ac	PAR-CLIP	24398324
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	24398324
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	24398324
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	24398324
MIRT475024	hsa-miR-548z	PAR-CLIP	24398324
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	24398324
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	24398324
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	24398324
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	24398324
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	24398324
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	24398324
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	24398324
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	24398324
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	24398324
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	24398324
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	24398324
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	24398324
MIRT475011	hsa-miR-4282	PAR-CLIP	24398324
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	24398324
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	24398324
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	24398324
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	24398324
MIRT475009	hsa-miR-1272	PAR-CLIP	24398324
MIRT475008	hsa-miR-1322	PAR-CLIP	24398324
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	24398324
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	24398324
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	24398324
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	23592263
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	23592263
MIRT493447	hsa-miR-155-5p	PAR-CLIP	23592263
MIRT493446	hsa-miR-3174	PAR-CLIP	23592263
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT493443	hsa-miR-924	PAR-CLIP	23592263
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT493441	hsa-miR-921	PAR-CLIP	23592263
MIRT493440	hsa-miR-127-5p	PAR-CLIP	23592263
MIRT493439	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT493438	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT475028	hsa-miR-548ac	PAR-CLIP	23592263
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT475024	hsa-miR-548z	PAR-CLIP	23592263
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	23592263
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	23592263
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	23592263
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	23592263
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	23592263
MIRT475011	hsa-miR-4282	PAR-CLIP	23592263
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT475009	hsa-miR-1272	PAR-CLIP	23592263
MIRT475008	hsa-miR-1322	PAR-CLIP	23592263
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	23592263
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	23592263
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	23592263
MIRT475004	hsa-miR-5683	PAR-CLIP	23592263
MIRT475003	hsa-miR-449b-3p	PAR-CLIP	23592263
MIRT475002	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT475001	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT475000	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT474999	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT474998	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT474997	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT474995	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT474996	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT474994	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT474993	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT474992	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT474991	hsa-miR-555	PAR-CLIP	23592263
MIRT474990	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT474989	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT474988	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT474987	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT474986	hsa-miR-3689c	PAR-CLIP	23592263
MIRT474985	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT474984	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT474983	hsa-miR-1287-3p	PAR-CLIP	23592263

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	15960975, 16189514, 17043677, 20467437, 21516116, 24788516, 24981860, 25416956, 27705803, 28514442, 31413325, 31515488, 33961781, 37725512
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	27768893
GO:0005739	Component	Mitochondrion	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0035035	Function	Histone acetyltransferase binding	IBA
GO:0044545	Component	NSL complex	IBA
GO:0044545	Component	NSL complex	IDA	20018852, 27768893, 33657400
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:1902562	Component	H4 histone acetyltransferase complex	IEA
GO:1903108	Process	Regulation of mitochondrial transcription	IDA	27768893

MIM	HGNC	e!Ensembl
612452	24565	ENSG00000120071

Q7Z3B3

Protein name

KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog)

Protein function

Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (Pub

PDB

4CY1 , 4CY2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15275	PEHE	885 → 1041	PEHE domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000269|PubMed:11641718}.

Sequence

MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPS
LDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYEL
RAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGK
RALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQP
ALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASE
TTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLI
VLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGARIIGHISESLSTKSCG
ALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQ
LDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSAR
KDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHD
PNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLG
SANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRC
STPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAP
TSPPIVPLKSRHLVAAATAQRPTHR

Sequence length

1105

Interactions

View interactions

	Reactome
			HATs acetylate histones

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chromatinopathy	Pathogenic	rs2078389049	RCV001261247	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs149830411	RCV005625630	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysplastic corpus callosum	Likely pathogenic	rs2146314496	RCV001391276	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs281865469	RCV001255390	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1427624649, rs2041984041, rs2046278091	RCV001257584 RCV001257633 RCV001257631	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KANSL1-related disorder	Likely pathogenic; Pathogenic	rs2146314756, rs2077221203	RCV003408019 RCV003403743	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Koolen-de Vries syndrome	Pathogenic; Likely pathogenic	rs2146659025, rs1018963624, rs2147746137, rs2146658002, rs2146486142, rs2147749507, rs2146946828, rs2146947627, rs2146314563, rs2146314756, rs2077221203, rs1480307304, rs2146370110, rs2146947345, rs2146363405 View all (44 more)	RCV001383965 RCV001788540 RCV001788539 RCV002570832 RCV001730043 View all (55 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs2147733170	RCV002274427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic; Likely pathogenic	rs281865470, rs2077066926	RCV005888667 RCV005909308	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs281865470	RCV005888668	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (59)

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.
17Q21.31 MICRODELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 17 DELETION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 17Q21.31 DELETION SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYCOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (110)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
17q21.31 microdeletion syndrome	17q21.31 Deletion Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	24779060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASDB_DG	22693459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35589863	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	27835682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33554913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35052433, 37907504	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	31969655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	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
Brain Diseases	Brain disease	Pubtator	26293599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33503040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32721119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	26293599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	26293599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	30804558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 17 deletion	17 Deletion	CTD_human_DG	22544363, 22544367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	17q21.31 Deletion Syndrome	ORPHANET_DG	19447831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	Chromosome 17q21.31 deletion syndrome	Pubtator	21094706, 29225339, 29352316, 33001864, 33050294, 33603161, 34286667, 35811432	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	17q21.31 Deletion Syndrome	GENOMICS_ENGLAND_DG	22544363		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	17q21.31 Deletion Syndrome	CLINVAR_DG	22544363, 22544367, 26424144, 26633545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	17q21.31 Deletion Syndrome	BEFREE	26306646, 28211987, 28440867, 28704368, 29352316		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 17q21.31 Deletion Syndrome	17q21.31 Deletion Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28496102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28496102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31969655, 34286667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	28496102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22544363, 22544367, 26293599, 26306646, 26424144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28440867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31969655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36084525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	25621995, 25875009, 28591699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart Defects Congenital	Congenital heart defect	Pubtator	28496102, 40715143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22544363, 26293599, 26424144, 28211987, 29352316		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	22544363, 22544367		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26293599, 29352316, 31969655, 33050294	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Koolen-De Vries syndrome due to a point mutation	Koolen-De Vries Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	25621995, 25875009, 28591699, 31027501, 35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33560403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome	Leukemia, Megakaryoblastic, Of Down Syndrome	CTD_human_DG	24056718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASDB_DG	23583980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	31043753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20111712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	9862344	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	22544363, 22544367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	28901451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22544363, 22544367, 26293599, 26306646, 26424144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35038703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24056718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CTD_human_DG	22544363, 22544367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28423358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37522749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	28552732		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	31043753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31043753	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	18509094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	18509094, 28586827, 31660654, 32829096, 36074904, 37454237, 37522749	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	19915575, 21738487, 22438815, 24842889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	24842889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	22544363, 22544367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26423011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35575789	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29352316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	26424144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	30089514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26306646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	26293599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	25621995, 25875009, 28591699, 31027501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	35575789	Associate	★★★★★ ★☆☆☆☆ 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

KANSL1 (KAT8 regulatory NSL complex subunit 1)