KANK1 (KN motif and ankyrin repeat domains 1)

Gene

• Entrez ID: 23189
• Gene name: KN motif and ankyrin repeat domains 1
• Gene symbol: KANK1
• Synonyms (NCBI Gene): ANKRD15, CPSQ2, KANK
• Disease Acronyms (UniProt): CPSQ2
• Chromosome: 9
• Chromosome location: 9p24.3
• Summary: The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372628779	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, intron variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004930	hsa-miR-124-3p	Microarray	15685193
MIRT017826	hsa-miR-335-5p	Microarray	18185580
MIRT004930	hsa-miR-124-3p	Microarray	18668037
MIRT004930	hsa-miR-124-3p	Microarray	15685193
MIRT048597	hsa-miR-100-5p	CLASH	23622248
MIRT047719	hsa-miR-10a-5p	CLASH	23622248
MIRT556861	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT556860	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT556859	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT556858	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT556857	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT556856	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT556855	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT556854	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT556853	hsa-miR-646	PAR-CLIP	20371350
MIRT556852	hsa-miR-3677-5p	PAR-CLIP	20371350
MIRT556850	hsa-miR-3622b-5p	PAR-CLIP	20371350
MIRT556849	hsa-miR-633	PAR-CLIP	20371350
MIRT556848	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT556847	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT556846	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT556861	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT556860	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT556859	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT556858	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT556857	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT556856	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT556855	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT556854	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT556853	hsa-miR-646	PAR-CLIP	21572407
MIRT556852	hsa-miR-3677-5p	PAR-CLIP	21572407
MIRT556851	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT556850	hsa-miR-3622b-5p	PAR-CLIP	21572407
MIRT556849	hsa-miR-633	PAR-CLIP	21572407
MIRT556848	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT556847	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT556846	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT556861	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT556860	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT556859	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT556858	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT556857	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT556856	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT556855	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT556854	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT556853	hsa-miR-646	PAR-CLIP	20371350
MIRT556852	hsa-miR-3677-5p	PAR-CLIP	20371350
MIRT556850	hsa-miR-3622b-5p	PAR-CLIP	20371350
MIRT556849	hsa-miR-633	PAR-CLIP	20371350
MIRT556848	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT556847	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT556846	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT556861	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT556860	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT556859	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT556858	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT556857	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT556856	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT556855	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT556854	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT556853	hsa-miR-646	PAR-CLIP	21572407
MIRT556852	hsa-miR-3677-5p	PAR-CLIP	21572407
MIRT556851	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT556850	hsa-miR-3622b-5p	PAR-CLIP	21572407
MIRT556849	hsa-miR-633	PAR-CLIP	21572407
MIRT556848	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT556847	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT556846	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT1078473	hsa-miR-181a	CLIP-seq
MIRT1078474	hsa-miR-181b	CLIP-seq
MIRT1078475	hsa-miR-181c	CLIP-seq
MIRT1078476	hsa-miR-181d	CLIP-seq
MIRT1078477	hsa-miR-3973	CLIP-seq
MIRT1078478	hsa-miR-4262	CLIP-seq
MIRT1078479	hsa-miR-4524	CLIP-seq
MIRT1078480	hsa-miR-520g	CLIP-seq
MIRT1078481	hsa-miR-520h	CLIP-seq
MIRT1078482	hsa-miR-873	CLIP-seq
MIRT1078483	hsa-miR-138	CLIP-seq
MIRT1078484	hsa-miR-15a	CLIP-seq
MIRT1078485	hsa-miR-15b	CLIP-seq
MIRT1078486	hsa-miR-16	CLIP-seq
MIRT1078487	hsa-miR-183	CLIP-seq
MIRT1078488	hsa-miR-195	CLIP-seq
MIRT1078489	hsa-miR-19a	CLIP-seq
MIRT1078490	hsa-miR-19b	CLIP-seq
MIRT1078491	hsa-miR-31	CLIP-seq
MIRT1078492	hsa-miR-3182	CLIP-seq
MIRT1078493	hsa-miR-3198	CLIP-seq
MIRT1078494	hsa-miR-3647-3p	CLIP-seq
MIRT1078495	hsa-miR-3670	CLIP-seq
MIRT1078496	hsa-miR-374c	CLIP-seq
MIRT1078497	hsa-miR-424	CLIP-seq
MIRT1078498	hsa-miR-4269	CLIP-seq
MIRT1078499	hsa-miR-4299	CLIP-seq
MIRT1078500	hsa-miR-4309	CLIP-seq
MIRT1078501	hsa-miR-4495	CLIP-seq
MIRT1078502	hsa-miR-4514	CLIP-seq
MIRT1078479	hsa-miR-4524	CLIP-seq
MIRT1078503	hsa-miR-4652-3p	CLIP-seq
MIRT1078504	hsa-miR-4653-3p	CLIP-seq
MIRT1078505	hsa-miR-4692	CLIP-seq
MIRT1078506	hsa-miR-4710	CLIP-seq
MIRT1078507	hsa-miR-4742-5p	CLIP-seq
MIRT1078508	hsa-miR-4792	CLIP-seq
MIRT1078509	hsa-miR-497	CLIP-seq
MIRT1078510	hsa-miR-503	CLIP-seq
MIRT1078511	hsa-miR-590-3p	CLIP-seq
MIRT1078512	hsa-miR-655	CLIP-seq
MIRT1078482	hsa-miR-873	CLIP-seq
MIRT2019534	hsa-miR-124	CLIP-seq
MIRT1078484	hsa-miR-15a	CLIP-seq
MIRT1078485	hsa-miR-15b	CLIP-seq
MIRT1078486	hsa-miR-16	CLIP-seq
MIRT1078488	hsa-miR-195	CLIP-seq
MIRT1078495	hsa-miR-3670	CLIP-seq
MIRT2019535	hsa-miR-3714	CLIP-seq
MIRT2019536	hsa-miR-3910	CLIP-seq
MIRT1078497	hsa-miR-424	CLIP-seq
MIRT2019537	hsa-miR-4521	CLIP-seq
MIRT1078479	hsa-miR-4524	CLIP-seq
MIRT1078509	hsa-miR-497	CLIP-seq
MIRT1078510	hsa-miR-503	CLIP-seq
MIRT2019538	hsa-miR-506	CLIP-seq
MIRT1078482	hsa-miR-873	CLIP-seq
MIRT2251378	hsa-miR-1179	CLIP-seq
MIRT1078484	hsa-miR-15a	CLIP-seq
MIRT1078485	hsa-miR-15b	CLIP-seq
MIRT1078486	hsa-miR-16	CLIP-seq
MIRT1078488	hsa-miR-195	CLIP-seq
MIRT1078489	hsa-miR-19a	CLIP-seq
MIRT1078490	hsa-miR-19b	CLIP-seq
MIRT1078493	hsa-miR-3198	CLIP-seq
MIRT1078497	hsa-miR-424	CLIP-seq
MIRT1078500	hsa-miR-4309	CLIP-seq
MIRT1078501	hsa-miR-4495	CLIP-seq
MIRT1078479	hsa-miR-4524	CLIP-seq
MIRT1078504	hsa-miR-4653-3p	CLIP-seq
MIRT1078509	hsa-miR-497	CLIP-seq
MIRT1078510	hsa-miR-503	CLIP-seq
MIRT1078482	hsa-miR-873	CLIP-seq
MIRT2019534	hsa-miR-124	CLIP-seq
MIRT1078487	hsa-miR-183	CLIP-seq
MIRT1078491	hsa-miR-31	CLIP-seq
MIRT2019535	hsa-miR-3714	CLIP-seq
MIRT2430215	hsa-miR-376c	CLIP-seq
MIRT2019536	hsa-miR-3910	CLIP-seq
MIRT2019537	hsa-miR-4521	CLIP-seq
MIRT2019538	hsa-miR-506	CLIP-seq
MIRT2251378	hsa-miR-1179	CLIP-seq
MIRT1078489	hsa-miR-19a	CLIP-seq
MIRT1078490	hsa-miR-19b	CLIP-seq
MIRT1078493	hsa-miR-3198	CLIP-seq
MIRT1078496	hsa-miR-374c	CLIP-seq
MIRT1078500	hsa-miR-4309	CLIP-seq
MIRT1078504	hsa-miR-4653-3p	CLIP-seq
MIRT1078512	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16968744, 18458160, 19171758, 19559006, 22084092, 26496610
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	12133830
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0008013	Function	Beta-catenin binding	IDA	16968744
GO:0008283	Process	Cell population proliferation	IMP	12133830
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19171758
GO:0030036	Process	Actin cytoskeleton organization	IMP	12133830
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	16968744
GO:0030336	Process	Negative regulation of cell migration	IMP	18458160
GO:0030837	Process	Negative regulation of actin filament polymerization	IBA	21873635
GO:0030837	Process	Negative regulation of actin filament polymerization	IDA	17996375, 18458160
GO:0032587	Component	Ruffle membrane	IDA	19559006
GO:0035023	Process	Regulation of Rho protein signal transduction	IMP	25961457
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	18458160
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IMP	18458160
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	16968744
GO:0090303	Process	Positive regulation of wound healing	IMP	22084092
GO:0090521	Process	Glomerular visceral epithelial cell migration	IMP	25961457
GO:1900025	Process	Negative regulation of substrate adhesion-dependent cell spreading	IDA	19171758
GO:1900028	Process	Negative regulation of ruffle assembly	IDA	19171758
GO:2000114	Process	Regulation of establishment of cell polarity	IMP	22084092
GO:2000393	Process	Negative regulation of lamellipodium morphogenesis	IDA	19171758

Other IDs

• MIM: 607704
• HGNC: 19309
• e!Ensembl: ENSG00000107104

Protein

• UniProt ID: Q14678
• Protein name: KN motif and ankyrin repeat domain-containing protein 1 (Ankyrin repeat domain-containing protein 15) (Kidney ankyrin repeat-containing protein)
• Protein function: Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis (PubMed:22084092, PubMed:24120883). At focal adhesions (FAs) rims, organizes cortical
• PDB: 5YBJ, 5YBU, 8AS9, 8IVZ, 8IW0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12075	KN_motif	30 → 68	KN motif	Motif
  PF00023	Ank	1161 → 1194	Ankyrin repeat	Repeat
  PF00023	Ank	1233 → 1265	Ankyrin repeat	Repeat
  PF00023	Ank	1266 → 1299	Ankyrin repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels. {ECO:0000269|PubMed:15823577}.
• Sequence:

  MAHTTKVNGSASGKAGDILSGDQDKEQKDPYFVETPYGYQLDLDFLKYVDDIQKGNTIKR
  LNIQKRRKPSVPCPEPRTTSGQQGIWTSTESLSSSNSDDNKQCPNFLIARSQVTSTPISK
  PPPPLETSLPFLTIPENRQLPPPSPQLPKHNLHVTKTLMETRRRLEQERATMQMTPGEFR
  RPRLASFGGMGTTSSLPSFVGSGNHNPAKHQLQNGYQGNGDYGSYAPAAPTTSSMGSSIR
  HSPLSSGISTPVTNVSPMHLQHIREQMAIALKRLKELEEQVRTIPVLQVKISVLQEEKRQ
  LVSQLKNQRAASQINVCGVRKRSYSAGNASQLEQLSRARRSGGELYIDYEEEEMETVEQS
  TQRIKEFRQLTADMQALEQKIQDSSCEASSELRENGECRSVAVGAEENMNDIVVYHRGSR
  SCKDAAVGTLVEMRNCGVSVTEAMLGVMTEADKEIELQQQTIESLKEKIYRLEVQLRETT
  HDREMTKLKQELQAAGSRKKVDKATMAQPLVFSKVVEAVVQTRDQMVGSHMDLVDTCVGT
  SVETNSVGISCQPECKNKVVGPELPMNWWIVKERVEMHDRCAGRSVEMCDKSVSVEVSVC
  ETGSNTEESVNDLTLLKTNLNLKEVRSIGCGDCSVDVTVCSPKECASRGVNTEAVSQVEA
  AVMAVPRTADQDTSTDLEQVHQFTNTETATLIESCTNTCLSTLDKQTSTQTVETRTVAVG
  EGRVKDINSSTKTRSIGVGTLLSGHSGFDRPSAVKTKESGVGQININDNYLVGLKMRTIA
  CGPPQLTVGLTASRRSVGVGDDPVGESLENPQPQAPLGMMTGLDHYIERIQKLLAEQQTL
  LAENYSELAEAFGEPHSQMGSLNSQLISTLSSINSVMKSASTEELRNPDFQKTSLGKITG
  NYLGYTCKCGGLQSGSPLSSQTSQPEQEVGTSEGKPISSLDAFPTQEGTLSPVNLTDDQI
  AAGLYACTNNESTLKSIMKKKDGNKDSNGAKKNLQFVGINGGYETTSSDDSSSDESSSSE
  SDDECDVIEYPLEEEEEEEDEDTRGMAEGHHAVNIEGLKSARVEDEMQVQECEPEKVEIR
  ERYELSEKMLSACNLLKNTINDPKALTSKDMRFCLNTLQHEWFRVSSQKSAIPAMVGDYI
  AAFEAISPDVLRYVINLADGNGNTALHYSVSHSNFEIVKLLLDADVCNVDHQNKAGYTPI
  MLAALAAVEAEKDMRIVEELFGCGDVNAKASQAGQTALMLAVSHGRIDMVKGLLACGADV
  NIQDDEGSTALMCASEHGHVEIVKLLLAQPGCNGHLEDNDGSTALSIALEAGHKDIAVLL
  YAHVNFAKAQSPGTPRLGRKTSPGPTHRGSFD

• Sequence length: 1352

Pathways

Reactome:

Estrogen-dependent gene expression
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Cerebral palsy	Cerebral Palsy, Cerebral Palsy, Spastic Quadriplegic, 1, Cerebral Palsy, Spastic Quadriplegic, 2	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513	16301218
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	27989131
Esophagus neoplasm	Esophageal Neoplasms	rs28934578, rs121918714, rs1567556006, rs1575166666	22960999
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	25961457

Unknown
Disease term	Disease name	Evidence	References	Source
Uterine Fibroids	Uterine Fibroids			GWAS
Multiple myeloma	Multiple myeloma	MM cells lacking PSMC6 also developed resistance against Carfilzomib (CAR)		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	32064933
Adenoma	Associate	33046021
Amyotrophic Lateral Sclerosis	Associate	35045337
Asthma	Associate	35606283
Autism Spectrum Disorder	Associate	29729439, 33455084
Breast Neoplasms	Associate	31679074
Carcinogenesis	Associate	31642198
Carcinoma Non Small Cell Lung	Associate	32064933
Carcinoma Renal Cell	Inhibit	25973051
Cerebral Palsy	Associate	25973051
Developmental Disabilities	Associate	29729439, 33455084
Diastrophic dysplasia	Associate	33455084
Epilepsy	Associate	33455084
Fetal Growth Retardation	Associate	23981964
Hyperkinesis	Associate	33455084
Hyperthyroidism	Associate	37876543
Intellectual Disability	Associate	33455084
Kidney Neoplasms	Associate	32064933
Language Disorders	Associate	33455084
Learning Disabilities	Associate	33455084
Leukemia Lymphoma Adult T Cell	Associate	34446027
Lung Neoplasms	Associate	20073072
Motor Neuron Disease	Associate	25973051
Multiple Organ Failure	Associate	39272989
Nasopharyngeal Carcinoma	Associate	25973051
Nasopharyngeal Neoplasms	Inhibit	25973051
Neoplasm Metastasis	Associate	31679074, 35320976
Neoplasms	Associate	21685469, 31679074, 33046021
Neoplasms	Inhibit	25973051, 29141020
Neuralgia	Associate	29141020
Neurotoxicity Syndromes	Associate	35045337
Paraparesis Tropical Spastic	Associate	34446027
Polycythemia Vera	Inhibit	16081684
Stomach Neoplasms	Associate	32064933, 35320976
Thrombocytosis	Associate	21685469
Thyroid Cancer Papillary	Associate	31642198