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	3832
Gene name	Kinesin family member 11
Gene symbol	KIF11
Synonyms (NCBI Gene)	EG5HKSPKNSL1MCLMRTRIP5
Chromosome	10
Chromosome location	10q23.33
Summary	This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387906641	C>T	Pathogenic	Coding sequence variant, stop gained
rs387906642	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs387906643	C>G	Pathogenic	Coding sequence variant, missense variant
rs730882061	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882062	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882063	T>C	Pathogenic	Splice donor variant
rs730882121	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882122	G>A,T	Pathogenic	Splice acceptor variant
rs786205900	G>T	Pathogenic	Stop gained, coding sequence variant
rs797045649	CAT>AA	Pathogenic	Frameshift variant, 5 prime UTR variant, initiator codon variant
rs797045650	A>T	Pathogenic	Stop gained, coding sequence variant
rs797045651	TTTCTAGTCGTTCC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs886041462	G>A	Pathogenic	Splice donor variant
rs886041477	TGC>AG	Pathogenic	Coding sequence variant, frameshift variant
rs1057516208	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518144	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1057518980	ATAAATCAAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519141	A>-	Likely-pathogenic	Intron variant
rs1057524736	G>A	Pathogenic	Splice donor variant
rs1064795570	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796738	C>T	Pathogenic	Stop gained, coding sequence variant
rs1227480400	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1554858130	T>C	Pathogenic	Initiator codon variant, missense variant
rs1554859309	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554859344	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554859399	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554859966	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554860819	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554861545	GAG>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs1554862197	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554862218	G>T	Pathogenic	Splice donor variant
rs1554862423	GAAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554862427	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554863016	G>A	Pathogenic	Splice acceptor variant
rs1554863044	TGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554863182	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1554863201	G>A	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs1554863246	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564713037	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1589590737	G>A	Pathogenic	Coding sequence variant, stop gained
rs1589591659	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589595589	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1589600660	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589600695	G>A	Likely-pathogenic	Splice donor variant
rs1589604288	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589607930	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589608594	C>T	Pathogenic	Coding sequence variant, stop gained

291

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016382	hsa-miR-193b-3p	Microarray	20304954
MIRT019584	hsa-miR-340-5p	Sequencing	20371350
MIRT021126	hsa-miR-186-5p	Sequencing	20371350
MIRT025295	hsa-miR-34a-5p	Proteomics	21566225
MIRT025295	hsa-miR-34a-5p	Proteomics	21566225
MIRT025295	hsa-miR-34a-5p	Proteomics	21566225
MIRT025295	hsa-miR-34a-5p	Proteomics	21566225
MIRT028535	hsa-miR-30a-5p	Proteomics	18668040
MIRT021126	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT057489	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT556789	hsa-miR-96-3p	PAR-CLIP	20371350
MIRT057488	hsa-miR-4495	PAR-CLIP	20371350
MIRT028535	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT057485	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT057483	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT057484	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT057486	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT556788	hsa-miR-6516-3p	PAR-CLIP	20371350
MIRT021126	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT057489	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT556789	hsa-miR-96-3p	PAR-CLIP	21572407
MIRT057488	hsa-miR-4495	PAR-CLIP	21572407
MIRT028535	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT057485	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT057483	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT057484	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT057486	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT556788	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT021126	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT057489	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT556789	hsa-miR-96-3p	PAR-CLIP	20371350
MIRT057488	hsa-miR-4495	PAR-CLIP	20371350
MIRT028535	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT057485	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT057483	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT057484	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT057486	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT556788	hsa-miR-6516-3p	PAR-CLIP	20371350
MIRT021126	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT057489	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT556789	hsa-miR-96-3p	PAR-CLIP	21572407
MIRT057488	hsa-miR-4495	PAR-CLIP	21572407
MIRT028535	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT057485	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT057483	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT057484	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT057486	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT556788	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT028535	hsa-miR-30a-5p	Luciferase reporter assayWestern blottingqRT-PCR	35140744
MIRT1093089	hsa-miR-106a	CLIP-seq
MIRT1093090	hsa-miR-106b	CLIP-seq
MIRT1093091	hsa-miR-122	CLIP-seq
MIRT1093092	hsa-miR-1231	CLIP-seq
MIRT1093093	hsa-miR-124	CLIP-seq
MIRT1093094	hsa-miR-1245b-3p	CLIP-seq
MIRT1093095	hsa-miR-1245b-5p	CLIP-seq
MIRT1093096	hsa-miR-1293	CLIP-seq
MIRT1093097	hsa-miR-1295	CLIP-seq
MIRT1093098	hsa-miR-1306	CLIP-seq
MIRT1093099	hsa-miR-150	CLIP-seq
MIRT1093100	hsa-miR-17	CLIP-seq
MIRT1093101	hsa-miR-200b	CLIP-seq
MIRT1093102	hsa-miR-200c	CLIP-seq
MIRT1093103	hsa-miR-203	CLIP-seq
MIRT1093104	hsa-miR-2052	CLIP-seq
MIRT1093105	hsa-miR-20a	CLIP-seq
MIRT1093106	hsa-miR-20b	CLIP-seq
MIRT1093107	hsa-miR-2113	CLIP-seq
MIRT1093108	hsa-miR-23a	CLIP-seq
MIRT1093109	hsa-miR-23b	CLIP-seq
MIRT1093110	hsa-miR-23c	CLIP-seq
MIRT1093111	hsa-miR-296-3p	CLIP-seq
MIRT1093112	hsa-miR-302a	CLIP-seq
MIRT1093113	hsa-miR-302b	CLIP-seq
MIRT1093114	hsa-miR-302c	CLIP-seq
MIRT1093115	hsa-miR-302d	CLIP-seq
MIRT1093116	hsa-miR-302e	CLIP-seq
MIRT1093117	hsa-miR-3064-3p	CLIP-seq
MIRT1093118	hsa-miR-3119	CLIP-seq
MIRT1093119	hsa-miR-3132	CLIP-seq
MIRT1093120	hsa-miR-3142	CLIP-seq
MIRT1093121	hsa-miR-3160-5p	CLIP-seq
MIRT1093122	hsa-miR-3173-3p	CLIP-seq
MIRT1093123	hsa-miR-3180-5p	CLIP-seq
MIRT1093124	hsa-miR-3187-3p	CLIP-seq
MIRT1093125	hsa-miR-3198	CLIP-seq
MIRT1093126	hsa-miR-323-5p	CLIP-seq
MIRT1093127	hsa-miR-3609	CLIP-seq
MIRT1093128	hsa-miR-3611	CLIP-seq
MIRT1093129	hsa-miR-3646	CLIP-seq
MIRT1093130	hsa-miR-3663-5p	CLIP-seq
MIRT1093131	hsa-miR-371-5p	CLIP-seq
MIRT1093132	hsa-miR-371b-5p	CLIP-seq
MIRT1093133	hsa-miR-372	CLIP-seq
MIRT1093134	hsa-miR-373	CLIP-seq
MIRT1093135	hsa-miR-374c	CLIP-seq
MIRT1093136	hsa-miR-3908	CLIP-seq
MIRT1093137	hsa-miR-3935	CLIP-seq
MIRT1093138	hsa-miR-3942-5p	CLIP-seq
MIRT1093139	hsa-miR-4260	CLIP-seq
MIRT1093140	hsa-miR-4265	CLIP-seq
MIRT1093141	hsa-miR-4272	CLIP-seq
MIRT1093142	hsa-miR-4289	CLIP-seq
MIRT1093143	hsa-miR-429	CLIP-seq
MIRT1093144	hsa-miR-4296	CLIP-seq
MIRT1093145	hsa-miR-4309	CLIP-seq
MIRT1093146	hsa-miR-432	CLIP-seq
MIRT1093147	hsa-miR-4322	CLIP-seq
MIRT1093148	hsa-miR-4417	CLIP-seq
MIRT1093149	hsa-miR-4424	CLIP-seq
MIRT1093150	hsa-miR-4435	CLIP-seq
MIRT1093151	hsa-miR-4438	CLIP-seq
MIRT1093152	hsa-miR-4483	CLIP-seq
MIRT1093153	hsa-miR-4506	CLIP-seq
MIRT1093154	hsa-miR-4645-3p	CLIP-seq
MIRT1093155	hsa-miR-4684-5p	CLIP-seq
MIRT1093156	hsa-miR-4698	CLIP-seq
MIRT1093157	hsa-miR-4699-3p	CLIP-seq
MIRT1093158	hsa-miR-4701-5p	CLIP-seq
MIRT1093159	hsa-miR-4703-5p	CLIP-seq
MIRT1093160	hsa-miR-4713-5p	CLIP-seq
MIRT1093161	hsa-miR-4715-3p	CLIP-seq
MIRT1093162	hsa-miR-4724-5p	CLIP-seq
MIRT1093163	hsa-miR-4731-5p	CLIP-seq
MIRT1093164	hsa-miR-4733-5p	CLIP-seq
MIRT1093165	hsa-miR-4755-3p	CLIP-seq
MIRT1093166	hsa-miR-4757-5p	CLIP-seq
MIRT1093167	hsa-miR-4760-5p	CLIP-seq
MIRT1093168	hsa-miR-4766-3p	CLIP-seq
MIRT1093169	hsa-miR-4766-5p	CLIP-seq
MIRT1093170	hsa-miR-4776-3p	CLIP-seq
MIRT1093171	hsa-miR-4779	CLIP-seq
MIRT1093172	hsa-miR-486-3p	CLIP-seq
MIRT1093173	hsa-miR-488	CLIP-seq
MIRT1093174	hsa-miR-494	CLIP-seq
MIRT1093175	hsa-miR-498	CLIP-seq
MIRT1093176	hsa-miR-506	CLIP-seq
MIRT1093177	hsa-miR-5095	CLIP-seq
MIRT1093178	hsa-miR-512-3p	CLIP-seq
MIRT1093179	hsa-miR-518a-5p	CLIP-seq
MIRT1093180	hsa-miR-519d	CLIP-seq
MIRT1093181	hsa-miR-520a-3p	CLIP-seq
MIRT1093182	hsa-miR-520a-5p	CLIP-seq
MIRT1093183	hsa-miR-520b	CLIP-seq
MIRT1093184	hsa-miR-520c-3p	CLIP-seq
MIRT1093185	hsa-miR-520d-3p	CLIP-seq
MIRT1093186	hsa-miR-520d-5p	CLIP-seq
MIRT1093187	hsa-miR-520e	CLIP-seq
MIRT1093188	hsa-miR-520g	CLIP-seq
MIRT1093189	hsa-miR-520h	CLIP-seq
MIRT1093190	hsa-miR-524-5p	CLIP-seq
MIRT1093191	hsa-miR-525-5p	CLIP-seq
MIRT1093192	hsa-miR-527	CLIP-seq
MIRT1093193	hsa-miR-532-3p	CLIP-seq
MIRT1093194	hsa-miR-548ah	CLIP-seq
MIRT1093195	hsa-miR-548an	CLIP-seq
MIRT1093196	hsa-miR-548s	CLIP-seq
MIRT1093197	hsa-miR-574-5p	CLIP-seq
MIRT1093198	hsa-miR-584	CLIP-seq
MIRT1093199	hsa-miR-588	CLIP-seq
MIRT1093200	hsa-miR-605	CLIP-seq
MIRT1093201	hsa-miR-653	CLIP-seq
MIRT1093202	hsa-miR-654-3p	CLIP-seq
MIRT1093203	hsa-miR-655	CLIP-seq
MIRT1093204	hsa-miR-659	CLIP-seq
MIRT1093205	hsa-miR-758	CLIP-seq
MIRT1093206	hsa-miR-93	CLIP-seq
MIRT1093207	hsa-miR-942	CLIP-seq
MIRT2024951	hsa-miR-101	CLIP-seq
MIRT1093089	hsa-miR-106a	CLIP-seq
MIRT1093090	hsa-miR-106b	CLIP-seq
MIRT2024952	hsa-miR-1202	CLIP-seq
MIRT2024953	hsa-miR-1278	CLIP-seq
MIRT1093096	hsa-miR-1293	CLIP-seq
MIRT2024954	hsa-miR-1297	CLIP-seq
MIRT2024955	hsa-miR-1343	CLIP-seq
MIRT2024956	hsa-miR-144	CLIP-seq
MIRT1093099	hsa-miR-150	CLIP-seq
MIRT1093100	hsa-miR-17	CLIP-seq
MIRT1093104	hsa-miR-2052	CLIP-seq
MIRT1093105	hsa-miR-20a	CLIP-seq
MIRT1093106	hsa-miR-20b	CLIP-seq
MIRT1093107	hsa-miR-2113	CLIP-seq
MIRT2024957	hsa-miR-26a	CLIP-seq
MIRT2024958	hsa-miR-26b	CLIP-seq
MIRT1093112	hsa-miR-302a	CLIP-seq
MIRT1093113	hsa-miR-302b	CLIP-seq
MIRT1093114	hsa-miR-302c	CLIP-seq
MIRT1093115	hsa-miR-302d	CLIP-seq
MIRT1093116	hsa-miR-302e	CLIP-seq
MIRT1093118	hsa-miR-3119	CLIP-seq
MIRT2024959	hsa-miR-3170	CLIP-seq
MIRT1093123	hsa-miR-3180-5p	CLIP-seq
MIRT1093126	hsa-miR-323-5p	CLIP-seq
MIRT1093128	hsa-miR-3611	CLIP-seq
MIRT2024960	hsa-miR-3613-3p	CLIP-seq
MIRT2024961	hsa-miR-3664-5p	CLIP-seq
MIRT1093131	hsa-miR-371-5p	CLIP-seq
MIRT1093133	hsa-miR-372	CLIP-seq
MIRT1093134	hsa-miR-373	CLIP-seq
MIRT2024962	hsa-miR-378g	CLIP-seq
MIRT1093136	hsa-miR-3908	CLIP-seq
MIRT1093138	hsa-miR-3942-5p	CLIP-seq
MIRT2024963	hsa-miR-3972	CLIP-seq
MIRT1093141	hsa-miR-4272	CLIP-seq
MIRT2024964	hsa-miR-4314	CLIP-seq
MIRT1093148	hsa-miR-4417	CLIP-seq
MIRT2024965	hsa-miR-4437	CLIP-seq
MIRT2024966	hsa-miR-4465	CLIP-seq
MIRT1093152	hsa-miR-4483	CLIP-seq
MIRT2024967	hsa-miR-4667-5p	CLIP-seq
MIRT2024968	hsa-miR-4674	CLIP-seq
MIRT2024969	hsa-miR-4680-3p	CLIP-seq
MIRT2024970	hsa-miR-4680-5p	CLIP-seq
MIRT1093156	hsa-miR-4698	CLIP-seq
MIRT2024971	hsa-miR-4700-5p	CLIP-seq
MIRT1093159	hsa-miR-4703-5p	CLIP-seq
MIRT1093160	hsa-miR-4713-5p	CLIP-seq
MIRT1093163	hsa-miR-4731-5p	CLIP-seq
MIRT1093168	hsa-miR-4766-3p	CLIP-seq
MIRT1093174	hsa-miR-494	CLIP-seq
MIRT1093175	hsa-miR-498	CLIP-seq
MIRT1093178	hsa-miR-512-3p	CLIP-seq
MIRT2024972	hsa-miR-516a-3p	CLIP-seq
MIRT1093180	hsa-miR-519d	CLIP-seq
MIRT1093181	hsa-miR-520a-3p	CLIP-seq
MIRT1093182	hsa-miR-520a-5p	CLIP-seq
MIRT1093183	hsa-miR-520b	CLIP-seq
MIRT1093184	hsa-miR-520c-3p	CLIP-seq
MIRT1093185	hsa-miR-520d-3p	CLIP-seq
MIRT1093187	hsa-miR-520e	CLIP-seq
MIRT1093188	hsa-miR-520g	CLIP-seq
MIRT1093189	hsa-miR-520h	CLIP-seq
MIRT1093191	hsa-miR-525-5p	CLIP-seq
MIRT1093193	hsa-miR-532-3p	CLIP-seq
MIRT2024973	hsa-miR-582-5p	CLIP-seq
MIRT1093198	hsa-miR-584	CLIP-seq
MIRT2024974	hsa-miR-637	CLIP-seq
MIRT1093204	hsa-miR-659	CLIP-seq
MIRT1093205	hsa-miR-758	CLIP-seq
MIRT1093206	hsa-miR-93	CLIP-seq
MIRT1093095	hsa-miR-1245b-5p	CLIP-seq
MIRT2256093	hsa-miR-1257	CLIP-seq
MIRT1093097	hsa-miR-1295	CLIP-seq
MIRT2024955	hsa-miR-1343	CLIP-seq
MIRT1093099	hsa-miR-150	CLIP-seq
MIRT1093107	hsa-miR-2113	CLIP-seq
MIRT1093118	hsa-miR-3119	CLIP-seq
MIRT1093120	hsa-miR-3142	CLIP-seq
MIRT1093128	hsa-miR-3611	CLIP-seq
MIRT2024961	hsa-miR-3664-5p	CLIP-seq
MIRT2024962	hsa-miR-378g	CLIP-seq
MIRT1093139	hsa-miR-4260	CLIP-seq
MIRT1093148	hsa-miR-4417	CLIP-seq
MIRT1093149	hsa-miR-4424	CLIP-seq
MIRT2024965	hsa-miR-4437	CLIP-seq
MIRT2024968	hsa-miR-4674	CLIP-seq
MIRT2024970	hsa-miR-4680-5p	CLIP-seq
MIRT1093172	hsa-miR-486-3p	CLIP-seq
MIRT1093177	hsa-miR-5095	CLIP-seq
MIRT1093205	hsa-miR-758	CLIP-seq
MIRT1093091	hsa-miR-122	CLIP-seq
MIRT1093118	hsa-miR-3119	CLIP-seq
MIRT1093148	hsa-miR-4417	CLIP-seq
MIRT1093091	hsa-miR-122	CLIP-seq
MIRT2452563	hsa-miR-1267	CLIP-seq
MIRT2024954	hsa-miR-1297	CLIP-seq
MIRT2024955	hsa-miR-1343	CLIP-seq
MIRT2024957	hsa-miR-26a	CLIP-seq
MIRT2024958	hsa-miR-26b	CLIP-seq
MIRT2452564	hsa-miR-3135b	CLIP-seq
MIRT2452565	hsa-miR-3194-3p	CLIP-seq
MIRT2452566	hsa-miR-3652	CLIP-seq
MIRT2452567	hsa-miR-431	CLIP-seq
MIRT2452568	hsa-miR-4423-5p	CLIP-seq
MIRT2452569	hsa-miR-4430	CLIP-seq
MIRT2024966	hsa-miR-4465	CLIP-seq
MIRT2452570	hsa-miR-4786-5p	CLIP-seq
MIRT2024972	hsa-miR-516a-3p	CLIP-seq
MIRT2452571	hsa-miR-769-5p	CLIP-seq
MIRT2452572	hsa-miR-924	CLIP-seq
MIRT1093091	hsa-miR-122	CLIP-seq
MIRT2452563	hsa-miR-1267	CLIP-seq
MIRT2452564	hsa-miR-3135b	CLIP-seq
MIRT2452565	hsa-miR-3194-3p	CLIP-seq
MIRT2452566	hsa-miR-3652	CLIP-seq
MIRT2557885	hsa-miR-4280	CLIP-seq
MIRT2452567	hsa-miR-431	CLIP-seq
MIRT2452568	hsa-miR-4423-5p	CLIP-seq
MIRT2452569	hsa-miR-4430	CLIP-seq
MIRT2452572	hsa-miR-924	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	TAS	8548803
GO:0000922	Component	Spindle pole	IDA	14718566
GO:0000922	Component	Spindle pole	IEA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0003777	Function	Microtubule motor activity	TAS	8548803
GO:0005515	Function	Protein binding	IPI	21303978, 28169274
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	19001501
GO:0005819	Component	Spindle	TAS	8548803
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	TAS	8548803
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005876	Component	Spindle microtubule	IDA	14718566
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007051	Process	Spindle organization	IMP	14718566
GO:0007052	Process	Mitotic spindle organization	TAS	8548803
GO:0007100	Process	Mitotic centrosome separation	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008574	Function	Plus-end-directed microtubule motor activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0019901	Function	Protein kinase binding	IPI	19001501
GO:0032991	Component	Protein-containing complex	IPI	17707232
GO:0036064	Component	Ciliary basal body	IDA
GO:0046602	Process	Regulation of mitotic centrosome separation	IMP	15843429
GO:0051225	Process	Spindle assembly	IEA
GO:0051225	Process	Spindle assembly	IEA
GO:0051231	Process	Spindle elongation	IBA
GO:0051301	Process	Cell division	IEA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA
GO:0090307	Process	Mitotic spindle assembly	IBA
GO:0090307	Process	Mitotic spindle assembly	IDA	19001501
GO:0090307	Process	Mitotic spindle assembly	IMP	15843429
GO:0140014	Process	Mitotic nuclear division	IEA

MIM	HGNC	e!Ensembl
148760	6388	ENSG00000138160

P52732

Protein name

Kinesin-like protein KIF11 (Kinesin-like protein 1) (Kinesin-like spindle protein HKSP) (Kinesin-related motor protein Eg5) (Thyroid receptor-interacting protein 5) (TR-interacting protein 5) (TRIP-5)

Protein function

Motor protein required for establishing a bipolar spindle and thus contributing to chromosome congression during mitosis (PubMed:19001501, PubMed:37728657). Required in non-mitotic cells for transport of secretory proteins from the Golgi complex

PDB

1II6 , 1Q0B , 1X88 , 1YRS , 2FKY , 2FL2 , 2FL6 , 2FME , 2G1Q , 2GM1 , 2IEH , 2PG2 , 2Q2Y , 2Q2Z , 2UYI , 2UYM , 2WOG , 2X2R , 2X7C , 2X7D , 2X7E , 2XAE , 3CJO , 3HQD , 3K3B , 3K5E , 3KEN , 3L9H , 3WPN , 3ZCW , 4A1Z , 4A28 , 4A50 , 4A51 , 4A5Y , 4AP0 , 4AQV , 4AQW , 4AS7 , 4B7B , 4BBG , 4BXN , 4CK5 , 4CK6 , 4CK7 , 4ZCA , 4ZHI , 5JV3 , 5ZO7 , 5ZO8 , 5ZO9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	24 → 359	Kinesin motor domain	Domain
PF13931	Microtub_bind	916 → 1053	Kinesin-associated microtubule-binding	Family

Sequence

MASQPNSSAKKKEEKGKNIQVVVRCRPFNLAERKASAHSIVECDPVRKEVSVRTGGLADK
SSRKTYTFDMVFGASTKQIDVYRSVVCPILDEVIMGYNCTIFAYGQTGTGKTFTMEGERS
PNEEYTWEEDPLAGIIPRTLHQIFEKLTDNGTEFSVKVSLLEIYNEELFDLLNPSSDVSE
RLQMFDDPRNKRGVIIKGLEEITVHNKDEVYQILEKGAAKRTTAATLMNAYSSRSHSVFS
VTIHMKETTIDGEELVKIGKLNLVDLAGSENIGRSGAVDKRAREAGNINQSLLTLGRVIT
ALVERTPHVPYRESKLTRILQDSLGGRTRTSIIATISPASLNLEETLSTLEYAHRAKNIL
NKPEVNQKLTKKALIKEYTEEIERLKRDLAAAREKNGVYISEENFRVMSGKLTVQEEQIV
ELIEKIGAVEEELNRVTELFMDNKNELDQCKSDLQNKTQELETTQKHLQETKLQLVKEEY
ITSALESTEEKLHDAASKLLNTVEETTKDVSGLHSKLDRKKAVDQHNAEAQDIFGKNLNS
LFNNMEELIKDGSSKQKAMLEVHKTLFGNLLSSSVSALDTITTVALGSLTSIPENVSTHV
SQIFNMILKEQSLAAESKTVLQELINVLKTDLLSSLEMILSPTVVSILKINSQLKHIFKT
SLTVADKIEDQKKELDGFLSILCNNLHELQENTICSLVESQKQCGNLTEDLKTIKQTHSQ
ELCKLMNLWTERFCALEEKCENIQKPLSSVQENIQQKSKDIVNKMTFHSQKFCADSDGFS
QELRNFNQEGTKLVEESVKHSDKLNGNLEKISQETEQRCESLNTRTVYFSEQWVSSLNER
EQELHNLLEVVSQCCEASSSDITEKSDGRKAAHEKQHNIFLDQMTIDEDKLIAQNLELNE
TIKIGLTKLNCFLEQDLKLDIPTGTTPQRKSYLYPSTLVRTEPREHLLDQLKRKQPELLM
MLNCSENNKEETIPDVDVEEAVLGQYTEEPLSQEPSVDAGVDCSSIGGVPFFQHKKSHGK
DKENRGINTLERSKVEETTEHLVTKSRLPLRAQINL

Sequence length

1056

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic Kinesins

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 (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
KIF11-related disorder	Likely pathogenic; Pathogenic	rs2492536774, rs1844462368	RCV003402518 RCV003396636	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphedema	Likely pathogenic	rs1057518980	RCV000415366	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1554863201	RCV005899877	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic; Likely pathogenic	rs1554863201, rs1057518980	RCV001720283 RCV000415366	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly and chorioretinopathy 1	Pathogenic	rs2492536872	RCV001527631	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)	Pathogenic	rs730882122	RCV001270814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	Likely pathogenic; Pathogenic	rs1844845643, rs2135900558, rs2135905068, rs1844462612, rs2135904919, rs2135901156, rs2135923459, rs2135923352, rs2135902435, rs2135923477, rs2135923421, rs2135904871, rs2135925601, rs2492519143, rs2492520861 View all (53 more)	RCV001331253 RCV003314007 RCV003485716 RCV001775280 RCV001823032 View all (64 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2135905068	RCV002274195	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2135904903	RCV002277694	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dysplasia	Likely pathogenic	rs1057518980	RCV000415366	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1227480400, rs1844909478, rs1844615558, rs1844944116	RCV004817776 RCV001075451 RCV001074293 RCV001074664	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs2135925949	RCV001724869	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1589590737	RCV001003069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (42)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEUPLOIDY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOMAL INSTABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTCF-related neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA, MICROCEPHALY AND CHORIORETINOPATHY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (157)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aicardi Syndrome	Aicardi syndrome	Pubtator	39187757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	39596324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23036584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15024728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32840301, 34079550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	Pubtator	39187757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35782055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19545421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	38256095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29181100, 30590004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32210727, 32346924, 32616754, 33285689, 34675265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18845538, 21303978, 35403252, 35782055, 36742345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	31914060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28684886, 28901309, 33111935, 34257537, 34359867, 36120772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	28993508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35403252, 35619540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30819726, 35979754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28993508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	39187757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36123339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28785766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28011472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34575892, 36611072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	25115524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30819726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26151199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19862325, 22506066, 22998375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17827400, 17971426, 21490949, 22506066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22158537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28821857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28821857, 32290826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22284827, 24281367, 25115524, 25124931, 25934493, 25996076, 26472404, 27212378, 28494495, 28785766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24281367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	39187757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	24281367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	25124931, 26472404, 27212378, 28494495, 30181612, 30452590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19545421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28993509, 33491154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19545421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33491154, 35774141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25115524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24281367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	16627469	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24327603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33102593, 33376723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34526760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22998375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24281367, 25115524, 25124931, 25996076, 26472404		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25934493, 25996076, 27212378, 37089697, 39187757	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	35312942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	24281367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29115586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28684886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28684886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28993508, 32831194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34079550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	22284827, 22653704, 25996076, 27212378, 39187757	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	ORPHANET_DG	22284827		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	UNIPROT_DG	22284827		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	GENOMICS_ENGLAND_DG	22284827, 27212378		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	BEFREE	22653704, 24281367, 25934493, 27212378		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	CLINVAR_DG	25115524, 25124931		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema, Microcephaly And Chorioretinopathy Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29181100, 30590004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30819726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29115586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27842896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27459100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19545421, 24327603, 28314282, 28510357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30991738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	24281367, 25115524, 25124931, 26472404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27279560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	22284827, 22653704, 25115524, 25124931, 25996076, 28574136, 30181612		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	22284827, 22653704, 24281367, 25934493, 27212378, 30181612, 33137195, 37089697	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly autosomal dominant	Microcephaly	BEFREE	22284827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly autosomal dominant	Microcephaly	Pubtator	22284827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Chorioretinopathy, Autosomal Dominant	Microcephaly with Chorioretinopathy	ORPHANET_DG	22284827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly-lymphedema-chorioretinopathy syndrome	Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	22284827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29115586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16627469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopic astigmatism	Myopic astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16489005, 19545421, 23444224, 24089139, 24925195, 27842896, 30991738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	24925195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	37837931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31805030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
obsolete Peripheral retinopathy	Obsolete Peripheral Retinopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteosarcoma	Osteosarcoma	BEFREE	28759958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31871312, 31987036, 32693821, 34253236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21986572, 35403252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18845538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35456519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	34128965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24222652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27842896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20515952, 25277178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30819726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	25124931, 26472404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	34128965, 34526760, 36672954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	25996076, 33137195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28785766, 31299183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28785766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33217867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28011472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35312942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23444224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27459100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31683688, 33537819, 35164221, 35421138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	31077665, 33137195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	33025856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29190901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34582664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22361733, 35669725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33217824	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30816541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	36672954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	35977011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KIF11 (kinesin family member 11)