AKAP9 (A-kinase anchoring protein 9)

Gene

• Entrez ID: 10142
• Gene name: A-kinase anchoring protein 9
• Gene symbol: AKAP9
• Synonyms (NCBI Gene): AKAP-9, AKAP350, AKAP450, CG-NAP, HYPERION, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO
• Disease Acronyms (UniProt): LQT11
• Chromosome: 7
• Chromosome location: 7q21.2
• Summary: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56198613	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs61757663	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs61757664	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs61757671	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs77447750	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, missense variant, coding sequence variant
rs121908566	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs139965373	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs144875383	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs144888041	G>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs189083857	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs192046591	A>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs201958512	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201977551	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs367857951	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs376950905	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs553800160	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880043	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052199	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs796052200	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1563145763	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004170	hsa-miR-192-5p	Microarray	16822819
MIRT030952	hsa-miR-21-5p	Microarray	19242418
MIRT776003	hsa-miR-1206	CLIP-seq
MIRT776004	hsa-miR-1226	CLIP-seq
MIRT776005	hsa-miR-1279	CLIP-seq
MIRT776006	hsa-miR-1283	CLIP-seq
MIRT776007	hsa-miR-133a	CLIP-seq
MIRT776008	hsa-miR-133b	CLIP-seq
MIRT776009	hsa-miR-300	CLIP-seq
MIRT776010	hsa-miR-3120-5p	CLIP-seq
MIRT776011	hsa-miR-3145-3p	CLIP-seq
MIRT776012	hsa-miR-3149	CLIP-seq
MIRT776013	hsa-miR-320e	CLIP-seq
MIRT776014	hsa-miR-3689a-5p	CLIP-seq
MIRT776015	hsa-miR-3689b	CLIP-seq
MIRT776016	hsa-miR-3689e	CLIP-seq
MIRT776017	hsa-miR-3689f	CLIP-seq
MIRT776018	hsa-miR-381	CLIP-seq
MIRT776019	hsa-miR-4281	CLIP-seq
MIRT776020	hsa-miR-4423-3p	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT776022	hsa-miR-4684-5p	CLIP-seq
MIRT776023	hsa-miR-4733-3p	CLIP-seq
MIRT776024	hsa-miR-513b	CLIP-seq
MIRT776025	hsa-miR-568	CLIP-seq
MIRT776026	hsa-miR-656	CLIP-seq
MIRT776027	hsa-miR-936	CLIP-seq
MIRT776028	hsa-miR-3133	CLIP-seq
MIRT776024	hsa-miR-513b	CLIP-seq
MIRT776029	hsa-miR-520d-5p	CLIP-seq
MIRT776030	hsa-miR-524-5p	CLIP-seq
MIRT776031	hsa-miR-548b-3p	CLIP-seq
MIRT1929006	hsa-miR-106a	CLIP-seq
MIRT1929007	hsa-miR-106b	CLIP-seq
MIRT1929008	hsa-miR-1197	CLIP-seq
MIRT1929009	hsa-miR-1286	CLIP-seq
MIRT1929010	hsa-miR-145	CLIP-seq
MIRT1929011	hsa-miR-17	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929017	hsa-miR-20a	CLIP-seq
MIRT1929018	hsa-miR-20b	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT1929020	hsa-miR-34b	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929023	hsa-miR-4275	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT1929025	hsa-miR-4436a	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT1929028	hsa-miR-4668-3p	CLIP-seq
MIRT1929029	hsa-miR-4722-5p	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT1929031	hsa-miR-519a	CLIP-seq
MIRT1929032	hsa-miR-519b-3p	CLIP-seq
MIRT1929033	hsa-miR-519c-3p	CLIP-seq
MIRT1929034	hsa-miR-519d	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq
MIRT1929040	hsa-miR-93	CLIP-seq
MIRT776021	hsa-miR-4666-3p	CLIP-seq
MIRT2169696	hsa-miR-1179	CLIP-seq
MIRT776014	hsa-miR-3689a-5p	CLIP-seq
MIRT776015	hsa-miR-3689b	CLIP-seq
MIRT776016	hsa-miR-3689e	CLIP-seq
MIRT776017	hsa-miR-3689f	CLIP-seq
MIRT2169697	hsa-miR-3692	CLIP-seq
MIRT2169698	hsa-miR-409-3p	CLIP-seq
MIRT2169699	hsa-miR-4307	CLIP-seq
MIRT2169700	hsa-miR-4719	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT2472433	hsa-miR-3161	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT2472434	hsa-miR-374a	CLIP-seq
MIRT2472435	hsa-miR-374b	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT2472436	hsa-miR-4457	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT2472437	hsa-miR-4731-3p	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT2472438	hsa-miR-4801	CLIP-seq
MIRT2472439	hsa-miR-5096	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT2472440	hsa-miR-624	CLIP-seq
MIRT2472441	hsa-miR-660	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq
MIRT1929012	hsa-miR-181a	CLIP-seq
MIRT1929013	hsa-miR-181b	CLIP-seq
MIRT1929014	hsa-miR-181c	CLIP-seq
MIRT1929015	hsa-miR-181d	CLIP-seq
MIRT1929016	hsa-miR-2054	CLIP-seq
MIRT1929019	hsa-miR-214	CLIP-seq
MIRT1929021	hsa-miR-3619-5p	CLIP-seq
MIRT1929022	hsa-miR-4262	CLIP-seq
MIRT1929024	hsa-miR-4291	CLIP-seq
MIRT1929026	hsa-miR-4643	CLIP-seq
MIRT1929027	hsa-miR-466	CLIP-seq
MIRT1929030	hsa-miR-4789-3p	CLIP-seq
MIRT2472439	hsa-miR-5096	CLIP-seq
MIRT1929035	hsa-miR-548n	CLIP-seq
MIRT1929036	hsa-miR-548t	CLIP-seq
MIRT1929037	hsa-miR-561	CLIP-seq
MIRT1929038	hsa-miR-761	CLIP-seq
MIRT1929039	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0003677	Function	DNA binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9482789
GO:0005515	Function	Protein binding	IPI	12163479, 16980960, 19242490, 20466722, 23455924, 27666745, 28089391, 29162697
GO:0005794	Component	Golgi apparatus	IDA	12163479, 27666745
GO:0005795	Component	Golgi stack	IBA	21873635
GO:0005795	Component	Golgi stack	IDA	19242490
GO:0005801	Component	Cis-Golgi network	IBA	21873635
GO:0005801	Component	Cis-Golgi network	IDA	24648492
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	20096683, 21399614, 24648492, 25657325, 29162697
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	9482789
GO:0007020	Process	Microtubule nucleation	IMP	19242490
GO:0007165	Process	Signal transduction	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9482789
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11799244
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0015459	Function	Potassium channel regulator activity	IBA	21873635
GO:0015459	Function	Potassium channel regulator activity	IMP	16002409
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	29162697
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IBA	21873635
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	18093912
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA	21873635
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	21502359
GO:0034237	Function	Protein kinase A regulatory subunit binding	IPI	17911601
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0044325	Function	Ion channel binding	IPI	11799244, 16002409, 18093912
GO:0051661	Process	Maintenance of centrosome location	IBA	21873635
GO:0051661	Process	Maintenance of centrosome location	IMP	25657325
GO:0060090	Function	Molecular adaptor activity	IBA	21873635
GO:0060090	Function	Molecular adaptor activity	IDA	11799244, 27666745
GO:0060306	Process	Regulation of membrane repolarization	IMP	16002409
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA	21873635
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18093912
GO:0061337	Process	Cardiac conduction	TAS
GO:0071320	Process	Cellular response to cAMP	IMP	16002409, 18093912
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	18093912
GO:0097060	Component	Synaptic membrane	IBA	21873635
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	18093912
GO:0098962	Process	Regulation of postsynaptic neurotransmitter receptor activity	IDA	10390370
GO:0098962	Process	Regulation of postsynaptic neurotransmitter receptor activity	IMP	10390370
GO:0098978	Component	Glutamatergic synapse	IDA	10390370
GO:0098978	Component	Glutamatergic synapse	IMP	10390370
GO:1901018	Process	Positive regulation of potassium ion transmembrane transporter activity	IBA	21873635
GO:1901018	Process	Positive regulation of potassium ion transmembrane transporter activity	IMP	16002409
GO:1903358	Process	Regulation of Golgi organization	IBA	21873635
GO:1903358	Process	Regulation of Golgi organization	IDA	27666745

Other IDs

• MIM: 604001
• HGNC: 379
• e!Ensembl: ENSG00000127914

Protein

• UniProt ID: Q99996
• Protein name: A-kinase anchor protein 9 (AKAP-9) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (A-kinase anchor protein 450 kDa) (AKAP 450) (AKAP 120-like protein) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP) (Protein hyperion) (Protein
• Protein function: Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10495	PACT_coil_coil	3704 → 3785	Pericentrin-AKAP-450 domain of centrosomal targeting protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789). {ECO:0000269|PubMed:10202149, ECO:0000269|PubMed:9482789}.
• Sequence:

  MEDEERQKKLEAGKAKLAQFRQRKAQSDGQSPSKKQKKKRKTSSSKHDVSAHHDLNIDQS
  QCNEMYINSSQRVESTVIPESTIMRTLHSGEITSHEQGFSVELESEISTTADDCSSEVNG
  CSFVMRTGKPTNLLREEEFGVDDSYSEQGAQDSPTHLEMMESELAGKQHEIEELNRELEE
  MRVTYGTEGLQQLQEFEAAIKQRDGIITQLTANLQQARREKDETMREFLELTEQSQKLQI
  QFQQLQASETLRNSTHSSTAADLLQAKQQILTHQQQLEEQDHLLEDYQKKKEDFTMQISF
  LQEKIKVYEMEQDKKVENSNKEEIQEKETIIEELNTKIIEEEKKTLELKDKLTTADKLLG
  ELQEQIVQKNQEIKNMKLELTNSKQKERQSSEEIKQLMGTVEELQKRNHKDSQFETDIVQ
  RMEQETQRKLEQLRAELDEMYGQQIVQMKQELIRQHMAQMEEMKTRHKGEMENALRSYSN
  ITVNEDQIKLMNVAINELNIKLQDTNSQKEKLKEELGLILEEKCALQRQLEDLVEELSFS
  REQIQRARQTIAEQESKLNEAHKSLSTVEDLKAEIVSASESRKELELKHEAEVTNYKIKL
  EMLEKEKNAVLDRMAESQEAELERLRTQLLFSHEEELSKLKEDLEIEHRINIEKLKDNLG
  IHYKQQIDGLQNEMSQKIETMQFEKDNLITKQNQLILEISKLKDLQQSLVNSKSEEMTLQ
  INELQKEIEILRQEEKEKGTLEQEVQELQLKTELLEKQMKEKENDLQEKFAQLEAENSIL
  KDEKKTLEDMLKIHTPVSQEERLIFLDSIKSKSKDSVWEKEIEILIEENEDLKQQCIQLN
  EEIEKQRNTFSFAEKNFEVNYQELQEEYACLLKVKDDLEDSKNKQELEYKSKLKALNEEL
  HLQRINPTTVKMKSSVFDEDKTFVAETLEMGEVVEKDTTELMEKLEVTKREKLELSQRLS
  DLSEQLKQKHGEISFLNEEVKSLKQEKEQVSLRCRELEIIINHNRAENVQSCDTQVSSLL
  DGVVTMTSRGAEGSVSKVNKSFGEESKIMVEDKVSFENMTVGEESKQEQLILDHLPSVTK
  ESSLRATQPSENDKLQKELNVLKSEQNDLRLQMEAQRICLSLVYSTHVDQVREYMENEKD
  KALCSLKEELIFAQEEKIKELQKIHQLELQTMKTQETGDEGKPLHLLIGKLQKAVSEECS
  YFLQTLCSVLGEYYTPALKCEVNAEDKENSGDYISENEDPELQDYRYEVQDFQENMHTLL
  NKVTEEYNKLLVLQTRLSKIWGQQTDGMKLEFGEENLPKEETEFLSIHSQMTNLEDIDVN
  HKSKLSSLQDLEKTKLEEQVQELESLISSLQQQLKETEQNYEAEIHCLQKRLQAVSESTV
  PPSLPVDSVVITESDAQRTMYPGSCVKKNIDGTIEFSGEFGVKEETNIVKLLEKQYQEQL
  EEEVAKVIVSMSIAFAQQTELSRISGGKENTASSKQAHAVCQQEQHYFNEMKLSQDQIGF
  QTFETVDVKFKEEFKPLSKELGEHGKEILLSNSDPHDIPESKDCVLTISEEMFSKDKTFI
  VRQSIHDEISVSSMDASRQLMLNEEQLEDMRQELVRQYQEHQQATELLRQAHMRQMERQR
  EDQEQLQEEIKRLNRQLAQRSSIDNENLVSERERVLLEELEALKQLSLAGREKLCCELRN
  SSTQTQNGNENQGEVEEQTFKEKELDRKPEDVPPEILSNERYALQKANNRLLKILLEVVK
  TTAAVEETIGRHVLGILDRSSKSQSSASLIWRSEAEASVKSCVHEEHTRVTDESIPSYSG
  SDMPRNDINMWSKVTEEGTELSQRLVRSGFAGTEIDPENEELMLNISSRLQAAVEKLLEA
  ISETSSQLEHAKVTQTELMRESFRQKQEATESLKCQEELRERLHEESRAREQLAVELSKA
  EGVIDGYADEKTLFERQIQEKTDIIDRLEQELLCASNRLQELEAEQQQIQEERELLSRQK
  EAMKAEAGPVEQQLLQETEKLMKEKLEVQCQAEKVRDDLQKQVKALEIDVEEQVSRFIEL
  EQEKNTELMDLRQQNQALEKQLEKMRKFLDEQAIDREHERDVFQQEIQKLEQQLKVVPRF
  QPISEHQTREVEQLANHLKEKTDKCSELLLSKEQLQRDIQERNEEIEKLEFRVRELEQAL
  LVSADTFQKVEDRKHFGAVEAKPELSLEVQLQAERDAIDRKEKEITNLEEQLEQFREELE
  NKNEEVQQLHMQLEIQKKESTTRLQELEQENKLFKDDMEKLGLAIKESDAMSTQDQHVLF
  GKFAQIIQEKEVEIDQLNEQVTKLQQQLKITTDNKVIEEKNELIRDLETQIECLMSDQEC
  VKRNREEEIEQLNEVIEKLQQELANIGQKTSMNAHSLSEEADSLKHQLDVVIAEKLALEQ
  QVETANEEMTFMKNVLKETNFKMNQLTQELFSLKRERESVEKIQSIPENSVNVAIDHLSK
  DKPELEVVLTEDALKSLENQTYFKSFEENGKGSIINLETRLLQLESTVSAKDLELTQCYK
  QIKDMQEQGQFETEMLQKKIVNLQKIVEEKVAAALVSQIQLEAVQEYAKFCQDNQTISSE
  PERTNIQNLNQLREDELGSDISALTLRISELESQVVEMHTSLILEKEQVEIAEKNVLEKE
  KKLLELQKLLEGNEKKQREKEKKRSPQDVEVLKTTTELFHSNEESGFFNELEALRAESVA
  TKAELASYKEKAEKLQEELLVKETNMTSLQKDLSQVRDHLAEAKEKLSILEKEDETEVQE
  SKKACMFEPLPIKLSKSIASQTDGTLKISSSNQTPQILVKNAGIQINLQSECSSEEVTEI
  ISQFTEKIEKMQELHAAEILDMESRHISETETLKREHYVAVQLLKEECGTLKAVIQCLRS
  KEGSSIPELAHSDAYQTREICSSDSGSDWGQGIYLTHSQGFDIASEGRGEESESATDSFP
  KKIKGLLRAVHNEGMQVLSLTESPYSDGEDHSIQQVSEPWLEERKAYINTISSLKDLITK
  MQLQREAEVYDSSQSHESFSDWRGELLLALQQVFLEERSVLLAAFRTELTALGTTDAVGL
  LNCLEQRIQEQGVEYQAAMECLQKADRRSLLSEIQALHAQMNGRKITLKREQESEKPSQE
  LLEYNIQQKQSQMLEMQVELSSMKDRATELQEQLSSEKMVVAELKSELAQTKLELETTLK
  AQHKHLKELEAFRLEVKDKTDEVHLLNDTLASEQKKSRELQWALEKEKAKLGRSEERDKE
  ELEDLKFSLESQKQRNLQLNLLLEQQKQLLNESQQKIESQRMLYDAQLSEEQGRNLELQV
  LLESEKVRIREMSSTLDRERELHAQLQSSDGTGQSRPPLPSEDLLKELQKQLEEKHSRIV
  ELLNETEKYKLDSLQTRQQMEKDRQVHRKTLQTEQEANTEGQKKMHELQSKVEDLQRQLE
  EKRQQVYKLDLEGQRLQGIMQEFQKQELEREEKRESRRILYQNLNEPTTWSLTSDRTRNW
  VLQQKIEGETKESNYAKLIEMNGGGTGCNHELEMIRQKLQCVASKLQVLPQKASERLQFE
  TADDEDFIWVQENIDEIILQLQKLTGQQGEEPSLVSPSTSCGSLTERLLRQNAELTGHIS
  QLTEEKNDLRNMVMKLEEQIRWYRQTGAGRDNSSRFSLNGGANIEAIIASEKEVWNREKL
  TLQKSLKRAEAEVYKLKAELRNDSLLQTLSPDSEHVTLKRIYGKYLRAESFRKALIYQKK
  YLLLLLGGFQECEDATLALLARMGGQPAFTDLEVITNRPKGFTRFRSAVRVSIAISRMKF
  LVRRWHRVTGSVSININRDGFGLNQGAEKTDSFYHSSGGLELYGEPRHTTYRSRSDLDYI
  RSPLPFQNRYPGTPADFNPGSLACSQLQNYDPDRALTDYITRLEALQRRLGTIQSGSTTQ
  FHAGMRR

• Sequence length: 3907

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Phase 3 - rapid repolarisation
Phase 2 - plateau phase
Anchoring of the basal body to the plasma membrane
Signaling by BRAF and RAF fusions
AURKA Activation by TPX2

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	29274321
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
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
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	25751625, 29059683
Brugada syndrome	Brugada Syndrome (disorder), Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776, rs199473282, rs16969925, rs199473096, rs199473565, rs199473097, rs199473566, rs199473101, rs199473153, rs199473584, rs199473168, rs199473587, rs199473170, rs199473172, rs199473175, rs199473055, rs199473556, rs199473058, rs199473225, rs199473613, rs199473271, rs199473062, rs199473623, rs199473304, rs199473305, rs199473629, rs199473072, rs199473083, rs483353016, rs587777457, rs587777742, rs727505158, rs727503411, rs730880210, rs786204839, rs786205830, rs138450474, rs794727487, rs794727637, rs794728924, rs749697698, rs794728918, rs794728917, rs794728914, rs397514450, rs794728912, rs794728906, rs794728849, rs794728843, rs794728846, rs796065312, rs796065311, rs863225273, rs869025522, rs869025520, rs777689378, rs886037903, rs754221948, rs199473284, rs886039072, rs1057519275, rs1060501130, rs759924541, rs1060501136, rs1060500103, rs1064794424, rs756159737, rs1135401773, rs1553695282, rs1553605932, rs1555475434, rs1553695764, rs1553700699, rs1553705586, rs1417036453, rs1204915217, rs761505217, rs1559727990, rs1559414131, rs755356387, rs1559729142, rs587781159, rs1559738598, rs1553699766, rs1237724419, rs1060500107, rs1575719863, rs1480085793, rs1575706847, rs199473620, rs1575751854, rs1207394743, rs1369632373, rs2061229370, rs2061654524, rs1274495820, rs2064222084, rs2064208734	25016126
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Long qt syndrome	Long QT Syndrome, Long Qt Syndrome 11	rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs387906290, rs1800171, rs120074189, rs120074190, rs120074191, rs120074193, rs120074194, rs120074196, rs116840805, rs116840789, rs116840778, rs1008642, rs104893713, rs104893715, rs121909281, rs28937316, rs28937317, rs137854613, rs137854614, rs137854600, rs137854601, rs397514449, rs137854618, rs121918602, rs281865421, rs28933384, rs121912504, rs121912505, rs28928904, rs121912506, rs1554426258, rs121912507, rs121912508, rs9333649, rs28928905, rs121912509, rs121912510, rs121912511, rs121912512, rs1554424772, rs121912516, rs28933093, rs79891110, rs80315385, rs199472944, rs199472942, rs199476324, rs116840787, rs193922365, rs151344631, rs45546039, rs397507556, rs199472758, rs199472759, rs397508068, rs397508069, rs199472760, rs199472762, rs199472763, rs397508070, rs397508071, rs199473471, rs199472765, rs397508072, rs397508075, rs12720458, rs199473411, rs199473410, rs199473663, rs199472767, rs397508077, rs397508078, rs199472771, rs397508082, rs397508083, rs397508085, rs397508087, rs397508090, rs397508091, rs397508093, rs397508096, rs199473479, rs199472790, rs397508097, rs138551008, rs199472795, rs199473480, rs199472800, rs199472804, rs199472805, rs199472807, rs199472806, rs397508099, rs199473483, rs199472814, rs199472815, rs397508103, rs397508104, rs199472678, rs199473448, rs199472679, rs397508110, rs397508111, rs397508112, rs397508113, rs179489, rs397508114, rs199472693, rs139042529, rs199472696, rs199472697, rs397508115, rs199473394, rs199473397, rs397508116, rs397508117, rs199473662, rs397508118, rs397508120, rs199472702, rs199473456, rs199472708, rs199473457, rs199472709, rs199472710, rs199472712, rs199472713, rs199472716, rs199472719, rs199472720, rs199472722, rs199472721, rs397508125, rs199473460, rs199472726, rs199472727, rs397508126, rs397508127, rs199472730, rs199473462, rs397508129, rs199473466, rs397508130, rs199472743, rs199472745, rs199472748, rs74462309, rs104894255, rs199472749, rs199472751, rs199473470, rs199472754, rs199472755, rs199472756, rs397508134, rs199472794, rs199472801, rs199472687, rs199473661, rs199473398, rs199472701, rs199472823, rs199472705, rs199472706, rs199473459, rs199472718, rs199472734, rs199472740, rs199472750, rs199472753, rs199472895, rs199472836, rs199472911, rs199472912, rs199472916, rs199472918, rs199472919, rs199472845, rs199472921, rs199472922, rs199472926, rs199473423, rs199473413, rs199473426, rs199473428, rs199472934, rs199472936, rs199473522, rs199472939, rs199472941, rs199473524, rs199472945, rs199472946, rs199472947, rs199472948, rs199472950, rs199472953, rs199472954, rs199473039, rs199472957, rs41307295, rs199472961, rs199472968, rs199472970, rs199472971, rs199472979, rs199473665, rs199473419, rs199473420, rs199473421, rs199472986, rs199472990, rs199472995, rs199472999, rs199473538, rs199473005, rs199473004, rs199473018, rs199472859, rs199472862, rs199472830, rs199472884, rs199473108, rs72549410, rs199473584, rs199473225, rs199473623, rs199473631, rs199473311, rs199473072, rs386352319, rs398124647, rs398124648, rs398124650, rs398124649, rs199473354, rs587777437, rs587782933, rs189014161, rs730880374, rs730880116, rs730880043, rs730882252, rs199744595, rs730882253, rs730882254, rs786204101, rs786204395, rs786204839, rs786205745, rs786205748, rs786205753, rs794728721, rs794728740, rs794728783, rs749697698, rs397514251, rs1553694247, rs794728849, rs794728473, rs794728470, rs794728466, rs794728469, rs794728468, rs794728467, rs794728403, rs794728504, rs794728401, rs794728464, rs748706373, rs794728459, rs794728462, rs794728503, rs794728458, rs794728399, rs794728456, rs794728455, rs794728502, rs794728449, rs794728446, rs1554425149, rs794728391, rs794728382, rs794728381, rs1137617, rs794728488, rs794728380, rs794728487, rs794728442, rs794728377, rs794728483, rs794728440, rs794728481, rs794728438, rs201268831, rs794728498, rs794728366, rs794728478, rs794728365, rs770047651, rs794728364, rs794728431, rs794728429, rs794728427, rs794728422, rs794728425, rs794728496, rs794728423, rs794728420, rs761863251, rs794728489, rs754921704, rs794728508, rs794728409, rs794728506, rs794728475, rs794728406, rs794728416, rs794728563, rs1554958092, rs397508109, rs794728549, rs794728565, rs794728566, rs762814879, rs794728547, rs794728580, rs794728569, rs775479779, rs794728517, rs794728581, rs794728523, rs794728571, rs794728527, rs775537394, rs794728558, rs794728561, rs794728531, rs794728535, rs794728562, rs794728576, rs794728537, rs794728540, rs796052171, rs755287627, rs796052197, rs796052198, rs796052196, rs796052199, rs796052200, rs796052166, rs878854347, rs794728568, rs878854349, rs878854350, rs878854348, rs863224478, rs863225288, rs864622309, rs864622174, rs773724817, rs199473441, rs199472951, rs869025448, rs869025447, rs878853771, rs199473412, rs763462603, rs886037906, rs886039183, rs886039045, rs530612385, rs886039385, rs750349088, rs199472893, rs773204795, rs1057518151, rs1057517743, rs1057517742, rs1057517711, rs1057520558, rs1057520598, rs1057520623, rs746877365, rs1060500662, rs1060500661, rs1060500670, rs1554425527, rs1060500621, rs199956744, rs1060500628, rs765169367, rs1060500626, rs1060500627, rs1060500623, rs1060500629, rs397508105, rs786205771, rs1060502608, rs1060502607, rs756159737, rs1554424044, rs1064793434, rs1064794793, rs1064793832, rs794728477, rs199472844, rs1554958132, rs1064795333, rs1064793159, rs1085307620, rs1554425498, rs1554425569, rs1131691762, rs1131692183, rs1131692327, rs199473442, rs1135401944, rs886039043, rs1555843898, rs199473310, rs1554423863, rs1554920580, rs1435990592, rs1554892994, rs1554894448, rs1554424079, rs1554426219, rs1554427317, rs1554428173, rs1554424062, rs1554425320, rs1554425486, rs1554424083, rs1554425226, rs1554425284, rs1554893228, rs1555814427, rs1553431702, rs1554424688, rs1553698563, rs1554424063, rs1554430908, rs1554423871, rs1554424070, rs1554424091, rs1554424390, rs1554424620, rs1385959174, rs1554424849, rs1554426244, rs1554427596, rs1554430850, rs1554893091, rs199472833, rs1554894445, rs1554424138, rs1554427931, rs1554958043, rs1554428170, rs1554427943, rs1554431441, rs1554424671, rs199473517, rs1554895166, rs1555843953, rs758346045, rs1244688796, rs779124360, rs1564821090, rs1563152963, rs1563156868, rs1325525794, rs199472924, rs1563193513, rs1558693760, rs761585108, rs1563156461, rs1564067737, rs199473430, rs1563161565, rs1563169296, rs1564820729, rs397508133, rs199472770, rs1564886323, rs1564820372, rs1564820786, rs1564824264, rs1564886349, rs1563148264, rs749211387, rs1563160541, rs1564825414, rs1568835906, rs1563161538, rs750835733, rs1568469857, rs1569139160, rs199473259, rs1584843033, rs1590081467, rs1584885912, rs1573214371, rs1584841841, rs1584842021, rs1584845263, rs1584846819, rs1584850710, rs1584856544, rs1584883087, rs1584883377, rs1584883517, rs1589884185, rs1589957719, rs1589957756, rs1589957233, rs1584852351, rs1590081328, rs794728578, rs1589931156, rs1584843078, rs1584847173, rs1584855956, rs552508881, rs1584852174, rs1589968661, rs1599759554, rs1599759598, rs1573214163, rs1584863723, rs1589957697, rs1800946921, rs1800958758, rs1801008727, rs1801183828, rs1801406108, rs1801444435, rs1801462423, rs1801935667, rs1848344878, rs1848346228, rs1848360153, rs1554894743, rs1848613641, rs199472974, rs1801941580, rs775362401, rs1846542419, rs1848316236, rs1848322089, rs767921776	16301704, 25087618, 11799244, 18093912
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Unknown
Disease term	Disease name	Evidence	References	Source
Torsades de pointes	Torsades de Pointes			ClinVar
Long QT Syndrome	long QT syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	25172201, 29516269, 35307406, 35567427
Anodontia	Associate	26786868
Arrhythmias Cardiac	Associate	27707468
Breast Neoplasms	Associate	21931171, 24943594, 26510858, 27270325, 33407744
Brugada Syndrome	Associate	27707468
Carcinogenesis	Associate	26786868
Cardiomyopathy Dilated	Associate	28750076
Cardiomyopathy Hypertrophic	Associate	28750076
Cardiovascular Diseases	Associate	25087618
Colorectal Neoplasms	Associate	25446987, 26786868, 26887056
Death Sudden Cardiac	Associate	37650513
Dementia	Associate	31836585
Esophageal Squamous Cell Carcinoma	Associate	36966136
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26510858
Idiopathic Pulmonary Fibrosis	Associate	38035073
Inflammatory Bowel Diseases	Associate	32764209
Long QT Syndrome	Associate	20809527, 24561134, 25087618, 28003625, 36395689
Lung Neoplasms	Associate	16741161
Melanoma	Associate	20520718
Neoplasms	Associate	30776432
Prostatic Neoplasms	Associate	31134918
Pulmonary Disease Chronic Obstructive	Associate	24452374
Romano Ward Syndrome	Associate	18093912, 25087618, 37650513
Stomach Diseases	Associate	26786868
Stomach Neoplasms	Associate	31164161
Thyroid cancer follicular	Associate	38203733
Thyroid Diseases	Associate	38203733
Thyroid Neoplasms	Associate	22887574, 38203733