CENPF (centromere protein F)

Gene

• Entrez ID: 1063
• Gene name: Centromere protein F
• Gene symbol: CENPF
• Synonyms (NCBI Gene): CENF, CILD31, PRO1779, STROMS, hcp-1
• Disease Acronyms (UniProt): STROMS
• Chromosome: 1
• Chromosome location: 1q41
• Summary: This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141352776	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs142993088	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144237457	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200976140	G>T	Pathogenic	Coding sequence variant, stop gained
rs367624766	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs376076886	C>T	Pathogenic	Coding sequence variant, stop gained
rs376767238	A>C	Pathogenic	Splice acceptor variant
rs757531591	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs757575602	TGAAAAAACCGAGGGTACAAACCTGAAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs776697039	GACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779120472	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs779235200	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205697	C>T	Pathogenic	Coding sequence variant, stop gained
rs869312748	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886041436	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1064795215	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1362606570	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553288555	A>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1553290222	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1571706279	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571707321	A>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002525	hsa-miR-373-3p	Microarray	15685193
MIRT019840	hsa-miR-375	Microarray	20215506
MIRT002525	hsa-miR-373-3p	Microarray;Other	15685193
MIRT023287	hsa-miR-122-5p	Proteomics	21750653
MIRT023780	hsa-miR-1-3p	Proteomics	18668040
MIRT024521	hsa-miR-215-5p	Microarray	19074876
MIRT026480	hsa-miR-192-5p	Microarray	19074876
MIRT031672	hsa-miR-16-5p	Proteomics	18668040
MIRT038774	hsa-miR-93-3p	CLASH	23622248
MIRT037353	hsa-miR-877-5p	CLASH	23622248
MIRT036512	hsa-miR-1226-3p	CLASH	23622248
MIRT732309	hsa-miR-148a-5p	Luciferase reporter assay, Western blot	27292025
MIRT732309	hsa-miR-148a-5p	Luciferase reporter assay, Western blot	27292025
MIRT884843	hsa-miR-1184	CLIP-seq
MIRT884844	hsa-miR-1226	CLIP-seq
MIRT884845	hsa-miR-125a-3p	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT884848	hsa-miR-146b-3p	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT884853	hsa-miR-194	CLIP-seq
MIRT884854	hsa-miR-2053	CLIP-seq
MIRT884855	hsa-miR-208a	CLIP-seq
MIRT884856	hsa-miR-208b	CLIP-seq
MIRT884857	hsa-miR-2115	CLIP-seq
MIRT884858	hsa-miR-219-2-3p	CLIP-seq
MIRT884859	hsa-miR-3125	CLIP-seq
MIRT884860	hsa-miR-3173-5p	CLIP-seq
MIRT884861	hsa-miR-338-5p	CLIP-seq
MIRT884862	hsa-miR-3658	CLIP-seq
MIRT884863	hsa-miR-376c	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT884865	hsa-miR-3916	CLIP-seq
MIRT884866	hsa-miR-4263	CLIP-seq
MIRT884867	hsa-miR-4272	CLIP-seq
MIRT884868	hsa-miR-4279	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT884870	hsa-miR-4422	CLIP-seq
MIRT884871	hsa-miR-4432	CLIP-seq
MIRT884872	hsa-miR-4473	CLIP-seq
MIRT884873	hsa-miR-4476	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884875	hsa-miR-4521	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884879	hsa-miR-4687-5p	CLIP-seq
MIRT884880	hsa-miR-4699-3p	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884883	hsa-miR-4732-3p	CLIP-seq
MIRT884884	hsa-miR-4733-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT884888	hsa-miR-4803	CLIP-seq
MIRT884889	hsa-miR-483-3p	CLIP-seq
MIRT884890	hsa-miR-499-5p	CLIP-seq
MIRT884891	hsa-miR-508-3p	CLIP-seq
MIRT884892	hsa-miR-512-3p	CLIP-seq
MIRT884893	hsa-miR-516a-3p	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT884897	hsa-miR-552	CLIP-seq
MIRT884898	hsa-miR-556-3p	CLIP-seq
MIRT884899	hsa-miR-569	CLIP-seq
MIRT884900	hsa-miR-577	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884902	hsa-miR-596	CLIP-seq
MIRT884903	hsa-miR-616	CLIP-seq
MIRT884904	hsa-miR-636	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT884906	hsa-miR-671-5p	CLIP-seq
MIRT884907	hsa-miR-874	CLIP-seq
MIRT884908	hsa-miR-875-3p	CLIP-seq
MIRT884909	hsa-miR-877	CLIP-seq
MIRT884910	hsa-miR-936	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962447	hsa-miR-205	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT884858	hsa-miR-219-2-3p	CLIP-seq
MIRT1962450	hsa-miR-3140-3p	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT1962454	hsa-miR-579	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT884857	hsa-miR-2115	CLIP-seq
MIRT2198832	hsa-miR-3622a-5p	CLIP-seq
MIRT2198833	hsa-miR-3689a-5p	CLIP-seq
MIRT2198834	hsa-miR-3689b	CLIP-seq
MIRT2198835	hsa-miR-3689e	CLIP-seq
MIRT2198836	hsa-miR-3689f	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT2198837	hsa-miR-4423-3p	CLIP-seq
MIRT884872	hsa-miR-4473	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT2198838	hsa-miR-4756-3p	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT2198839	hsa-miR-486-5p	CLIP-seq
MIRT884892	hsa-miR-512-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT884893	hsa-miR-516a-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT884897	hsa-miR-552	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884904	hsa-miR-636	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT2385933	hsa-miR-3591-5p	CLIP-seq
MIRT2198833	hsa-miR-3689a-5p	CLIP-seq
MIRT2198834	hsa-miR-3689b	CLIP-seq
MIRT2198835	hsa-miR-3689e	CLIP-seq
MIRT2198836	hsa-miR-3689f	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT2385934	hsa-miR-4280	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT2198838	hsa-miR-4756-3p	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT2385935	hsa-miR-548aa	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IMP	7542657
GO:0000775	Component	Chromosome, centromeric region	IBA	21873635
GO:0000775	Component	Chromosome, centromeric region	IDA	7542657, 7651420, 11084331
GO:0000776	Component	Kinetochore	IDA	7542657, 9763420, 17363900
GO:0000785	Component	Chromatin	NAS	9891037
GO:0000922	Component	Spindle pole	IBA	21873635
GO:0000922	Component	Spindle pole	IDA	7542657
GO:0000940	Component	Condensed chromosome outer kinetochore	IDA	7542657, 7642639, 7904902
GO:0000940	Component	Condensed chromosome outer kinetochore	TAS	12974617
GO:0001822	Process	Kidney development	IMP	25564561
GO:0003682	Function	Chromatin binding	NAS	9891037
GO:0005515	Function	Protein binding	IPI	7651420, 9763420, 17043677, 17363900, 17600710, 25564561, 31413325
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	7542657, 7642639, 7651420, 15494374
GO:0005635	Component	Nuclear envelope	IDA	12154071
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	12974617
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	7651420
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	IEA
GO:0007059	Process	Chromosome segregation	IMP	16252009
GO:0007059	Process	Chromosome segregation	NAS	7542657
GO:0007094	Process	Mitotic spindle assembly checkpoint	NAS	12974617
GO:0007517	Process	Muscle organ development	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008022	Function	Protein C-terminus binding	IPI	7642639
GO:0008134	Function	Transcription factor binding	IPI	15677469
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IBA	21873635
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IMP	7651420, 12154071
GO:0015031	Process	Protein transport	IDA	12974617
GO:0015031	Process	Protein transport	IMP	17600710
GO:0016202	Process	Regulation of striated muscle tissue development	ISS	10373470
GO:0016363	Component	Nuclear matrix	IDA	7542657
GO:0021591	Process	Ventricular system development	IMP	25564561
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IDA	7651420
GO:0036064	Component	Ciliary basal body	IEA
GO:0042493	Process	Response to drug	NAS	12467231
GO:0042803	Function	Protein homodimerization activity	IPI	7642639
GO:0045120	Component	Pronucleus	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	15677469
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051301	Process	Cell division	IEA
GO:0051310	Process	Metaphase plate congression	IBA	21873635
GO:0051310	Process	Metaphase plate congression	IDA	15870278
GO:0051382	Process	Kinetochore assembly	NAS	16252009
GO:0051726	Process	Regulation of cell cycle	TAS
GO:0070840	Function	Dynein complex binding	IBA	21873635
GO:0070840	Function	Dynein complex binding	IDA	12974617
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0097539	Component	Ciliary transition fiber	IMP	25564561

Other IDs

• MIM: 600236
• HGNC: 1857
• e!Ensembl: ENSG00000117724

Protein

• UniProt ID: P49454
• Protein name: Centromere protein F (CENP-F) (AH antigen) (Kinetochore protein CENPF) (Mitosin)
• Protein function: Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the mic
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10481	CENP-F_N	1 → 307	Cenp-F N-terminal domain	Coiled-coil
  PF10473	CENP-F_leu_zip	1893 → 2035	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10473	CENP-F_leu_zip	2131 → 2270	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10473	CENP-F_leu_zip	2313 → 2452	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10490	CENP-F_C_Rb_bdg	2967 → 3013	Rb-binding domain of kinetochore protein Cenp-F/LEK1	Domain

• Sequence:

  MSWALEEWKEGLPTRALQKIQELEGQLDKLKKEKQQRQFQLDSLEAALQKQKQKVENEKT
  EGTNLKRENQRLMEICESLEKTKQKISHELQVKESQVNFQEGQLNSGKKQIEKLEQELKR
  CKSELERSQQAAQSADVSLNPCNTPQKIFTTPLTPSQYYSGSKYEDLKEKYNKEVEERKR
  LEAEVKALQAKKASQTLPQATMNHRDIARHQASSSVFSWQQEKTPSHLSSNSQRTPIRRD
  FSASYFSGEQEVTPSRSTLQIGKRDANSSFFDNSSSPHLLDQLKAQNQELRNKINELELR
  LQGHEKEMKGQVNKFQELQLQLEKAKVELIEKEKVLNKCRDELVRTTAQYDQASTKYTAL
  EQKLKKLTEDLSCQRQNAESARCSLEQKIKEKEKEFQEELSRQQRSFQTLDQECIQMKAR
  LTQELQQAKNMHNVLQAELDKLTSVKQQLENNLEEFKQKLCRAEQAFQASQIKENELRRS
  MEEMKKENNLLKSHSEQKAREVCHLEAELKNIKQCLNQSQNFAEEMKAKNTSQETMLRDL
  QEKINQQENSLTLEKLKLAVADLEKQRDCSQDLLKKREHHIEQLNDKLSKTEKESKALLS
  ALELKKKEYEELKEEKTLFSCWKSENEKLLTQMESEKENLQSKINHLETCLKTQQIKSHE
  YNERVRTLEMDRENLSVEIRNLHNVLDSKSVEVETQKLAYMELQQKAEFSDQKHQKEIEN
  MCLKTSQLTGQVEDLEHKLQLLSNEIMDKDRCYQDLHAEYESLRDLLKSKDASLVTNEDH
  QRSLLAFDQQPAMHHSFANIIGEQGSMPSERSECRLEADQSPKNSAILQNRVDSLEFSLE
  SQKQMNSDLQKQCEELVQIKGEIEENLMKAEQMHQSFVAETSQRISKLQEDTSAHQNVVA
  ETLSALENKEKELQLLNDKVETEQAEIQELKKSNHLLEDSLKELQLLSETLSLEKKEMSS
  IISLNKREIEELTQENGTLKEINASLNQEKMNLIQKSESFANYIDEREKSISELSDQYKQ
  EKLILLQRCEETGNAYEDLSQKYKAAQEKNSKLECLLNECTSLCENRKNELEQLKEAFAK
  EHQEFLTKLAFAEERNQNLMLELETVQQALRSEMTDNQNNSKSEAGGLKQEIMTLKEEQN
  KMQKEVNDLLQENEQLMKVMKTKHECQNLESEPIRNSVKERESERNQCNFKPQMDLEVKE
  ISLDSYNAQLVQLEAMLRNKELKLQESEKEKECLQHELQTIRGDLETSNLQDMQSQEISG
  LKDCEIDAEEKYISGPHELSTSQNDNAHLQCSLQTTMNKLNELEKICEILQAEKYELVTE
  LNDSRSECITATRKMAEEVGKLLNEVKILNDDSGLLHGELVEDIPGGEFGEQPNEQHPVS
  LAPLDESNSYEHLTLSDKEVQMHFAELQEKFLSLQSEHKILHDQHCQMSSKMSELQTYVD
  SLKAENLVLSTNLRNFQGDLVKEMQLGLEEGLVPSLSSSCVPDSSSLSSLGDSSFYRALL
  EQTGDMSLLSNLEGAVSANQCSVDEVFCSSLQEENLTRKETPSAPAKGVEELESLCEVYR
  QSLEKLEEKMESQGIMKNKEIQELEQLLSSERQELDCLRKQYLSENEQWQQKLTSVTLEM
  ESKLAAEKKQTEQLSLELEVARLQLQGLDLSSRSLLGIDTEDAIQGRNESCDISKEHTSE
  TTERTPKHDVHQICDKDAQQDLNLDIEKITETGAVKPTGECSGEQSPDTNYEPPGEDKTQ
  GSSECISELSFSGPNALVPMDFLGNQEDIHNLQLRVKETSNENLRLLHVIEDRDRKVESL
  LNEMKELDSKLHLQEVQLMTKIEACIELEKIVGELKKENSDLSEKLEYFSCDHQELLQRV
  ETSEGLNSDLEMHADKSSREDIGDNVAKVNDSWKERFLDVENELSRIRSEKASIEHEALY
  LEADLEVVQTEKLCLEKDNENKQKVIVCLEEELSVVTSERNQLRGELDTMSKKTTALDQL
  SEKMKEKTQELESHQSECLHCIQVAEAEVKEKTELLQTLSSDVSELLKDKTHLQEKLQSL
  EKDSQALSLTKCELENQIAQLNKEKELLVKESESLQARLSESDYEKLNVSKALEAALVEK
  GEFALRLSSTQEEVHQLRRGIEKLRVRIEADEKKQLHIAEKLKERERENDSLKDKVENLE
  RELQMSEENQELVILDAENSKAEVETLKTQIEEMARSLKVFELDLVTLRSEKENLTKQIQ
  EKQGQLSELDKLLSSFKSLLEEKEQAEIQIKEESKTAVEMLQNQLKELNEAVAALCGDQE
  IMKATEQSLDPPIEEEHQLRNSIEKLRARLEADEKKQLCVLQQLKESEHHADLLKGRVEN
  LERELEIARTNQEHAALEAENSKGEVETLKAKIEGMTQSLRGLELDVVTIRSEKENLTNE
  LQKEQERISELEIINSSFENILQEKEQEKVQMKEKSSTAMEMLQTQLKELNERVAALHND
  QEACKAKEQNLSSQVECLELEKAQLLQGLDEAKNNYIVLQSSVNGLIQEVEDGKQKLEKK
  DEEISRLKNQIQDQEQLVSKLSQVEGEHQLWKEQNLELRNLTVELEQKIQVLQSKNASLQ
  DTLEVLQSSYKNLENELELTKMDKMSFVEKVNKMTAKETELQREMHEMAQKTAELQEELS
  GEKNRLAGELQLLLEEIKSSKDQLKELTLENSELKKSLDCMHKDQVEKEGKVREEIAEYQ
  LRLHEAEKKHQALLLDTNKQYEVEIQTYREKLTSKEECLSSQKLEIDLLKSSKEELNNSL
  KATTQILEELKKTKMDNLKYVNQLKKENERAQGKMKLLIKSCKQLEEEKEILQKELSQLQ
  AAQEKQKTGTVMDTKVDELTTEIKELKETLEEKTKEADEYLDKYCSLLISHEKLEKAKEM
  LETQVAHLCSQQSKQDSRGSPLLGPVVPGPSPIPSVTEKRLSSGQNKASGKRQRSSGIWE
  NGRGPTPATPESFSKKSKKAVMSGIHPAEDTEGTEFEPEGLPEVVKKGFADIPTGKTSPY
  ILRRTTMATRTSPRLAAQKLALSPLSLGKENLAESSKPTAGGSRSQKVKVAQRSPVDSGT
  ILREPTTKSVPVNNLPERSPTDSPREGLRVKRGRLVPSPKAGLESNGSENCKVQ

• Sequence length: 3114

Pathways

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Polo-like kinase mediated events
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anterior segment dysgenesis	Irido-corneo-trabecular dysgenesis (disorder)	rs121907917, rs72549387, rs121909248, rs104893861, rs104893862, rs80358194, rs2113111009, rs104893957, rs104893958, rs104893954, rs587778873, rs587778874, rs878853070, rs752281590, rs369858688, rs1057519477, rs1057519480, rs1131692284, rs1554100953, rs1183655796, rs1558489563, rs121907913, rs72549376
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17659439
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	17659439
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17659439
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	25564561
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493	25564561
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29581250
Seckel syndrome	Seckel syndrome	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	25564561
Stromme syndrome	Stromme syndrome	rs367624766, rs376767238, rs786205697, rs200976140, rs757575602, rs869312748, rs886041436, rs376076886, rs1064795215, rs757531591, rs776697039, rs779120472, rs1571707321

Unknown
Disease term	Disease name	Evidence	References	Source
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	32672359, 33148251, 35354488, 36260870
Adenocarcinoma of Lung	Stimulate	33398330
Adrenocortical Carcinoma	Associate	35123514
Aneuploidy	Associate	17205517
Astrocytoma	Associate	12937144
Breast Neoplasms	Associate	12115341, 17205517, 19102762, 20015195, 26868636, 32210727, 35456460, 36096037, 37592220, 39242688
Carcinogenesis	Associate	40659783
Carcinoma Adenoid Cystic	Associate	31914060
Carcinoma Hepatocellular	Associate	26137588, 33157984, 33946043
Carcinoma Pancreatic Ductal	Associate	15548371, 29483831
Carcinoma Renal Cell	Associate	24763884, 29968393, 34606125, 36793506
Carcinoma Small Cell	Stimulate	36379381
Colonic Neoplasms	Associate	33428592
Colorectal Neoplasms	Associate	38637125
Developmental Disabilities	Associate	35488810
Drug Related Side Effects and Adverse Reactions	Inhibit	36720923
Esophageal Neoplasms	Associate	32443386, 35484963
Esophageal Squamous Cell Carcinoma	Associate	35496042
Fibroadenoma	Associate	37240386
Gastrointestinal Stromal Tumors	Associate	14724156
Glioblastoma	Associate	12937144
Glioma	Associate	33892537
Hypoxia	Associate	33148251
IgA Vasculitis	Associate	11056662
Inflammation	Associate	26868636
Intellectual Disability	Associate	35488810
Intestinal Atresia	Associate	35488810
Jejunal Atresia with Microcephaly and Ocular Anomalies	Associate	35488810, 38002928
Keratoconus	Associate	33729517
Leukemia Myeloid Acute	Associate	35634845
Liposarcoma	Stimulate	37108172
Lung Neoplasms	Associate	32831194, 35608130, 36984548
Lung Neoplasms	Stimulate	37986322
Lymphatic Diseases	Associate	37256823
Melanoma	Associate	35189004, 7175442
Melanoma Cutaneous Malignant	Associate	35189004
Meningioma	Associate	28301542
Microcephaly	Associate	35488810
Mitral Valve Insufficiency	Associate	33023625
Nasopharyngeal Carcinoma	Stimulate	20828406
Nasopharyngeal Carcinoma	Associate	26238040, 35509856
Neoplasm Metastasis	Inhibit	17205517
Neoplasm Metastasis	Associate	20828406, 30957416, 35189004, 37256823
Neoplasm Metastasis	Stimulate	33023625
Neoplasms	Associate	11472419, 12115341, 17205517, 21659360, 22425911, 26868636, 28301542, 30526248, 33148251, 35189004, 35346060, 35496042, 36379381, 37108172, 40659783, 8875058
Neoplasms	Stimulate	19102762, 23978088, 35123514
Pancreatic Neoplasms	Associate	30639415, 36275722
Personality Disorders	Associate	17205517
Phyllodes Tumor	Associate	37240386
Progeria	Associate	27015553
Prostatic Neoplasms	Associate	30526248, 30957416, 35409038
Stomach Neoplasms	Associate	35346060, 37256823
Thyroid Carcinoma Anaplastic	Associate	33455115
Triple Negative Breast Neoplasms	Associate	35627287, 36720923
Urinary Bladder Neoplasms	Associate	40659783
Uterine Cervical Neoplasms	Stimulate	33023625