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
• 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, 24120883, 26496610, 27410476, 29183992
GO:0005634	Component	Nucleus	IDA	16968744
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12133830, 16968744
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	24120883, 27410476
GO:0005938	Component	Cell cortex	IEA
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:0016020	Component	Membrane	IEA
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:0030674	Function	Protein-macromolecule adaptor activity	IDA	27410476
GO:0030837	Process	Negative regulation of actin filament polymerization	IBA
GO:0030837	Process	Negative regulation of actin filament polymerization	IDA	17996375
GO:0030837	Process	Negative regulation of actin filament polymerization	IDA	18458160
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA
GO:0032587	Component	Ruffle membrane	IDA	19559006
GO:0032587	Component	Ruffle membrane	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IMP	25961457
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	18458160
GO:0042995	Component	Cell projection	IEA
GO:0043622	Process	Cortical microtubule organization	IMP	24120883, 27410476
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	Podocyte cell migration	IEA
GO:0090521	Process	Podocyte 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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal brain morphology	Likely pathogenic	rs372628779	RCV000454209

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of neuronal migration	Benign	rs761345356, rs376262343	RCV000201405 RCV000201344
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs4742277, rs12352313, rs201388080, rs76738278, rs114914725, rs12000920	RCV005914244 RCV005909368 RCV005928559 RCV005891003 RCV005903364 RCV005913379
Amyotrophic lateral sclerosis	Benign; Likely benign	rs61737971	RCV003105894
Cerebral palsy, spastic quadriplegic, 2	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs747879222, rs1826539628, rs770304192, rs758879616, rs1305877076, rs143368107, rs187592077, rs115382946, rs1002937620, rs781727306, rs1324583042, rs137918238, rs776592186, rs187246624, rs201456672, rs765330886, rs138899296, rs200278059, rs745697707, rs540922500, rs770900793, rs780258278, rs746088661, rs575779520, rs138522309, rs756738968, rs144629161, rs140893133, rs776210843, rs143775530, rs1481812195, rs746428922, rs139624364, rs147261175, rs767269190, rs751635469, rs146130179, rs771646121, rs148027754, rs1564102615, rs766169056, rs149011172, rs147714853, rs149121553, rs146416309, rs143675911, rs146648084, rs375800988, rs200239036, rs745774146, rs150303132, rs114109003, rs748758469, rs762757246, rs114947217, rs143880438, rs144137079, rs142442062, rs139301285, rs114784029, rs373324342, rs367704087, rs143617877, rs151056048, rs149775124, rs184585076, rs144003040, rs1554721659, rs762794892, rs752882731, rs1302836963, rs1826596291, rs781031033, rs150840874, rs771172011, rs2540511043, rs2539732337, rs1832144315, rs753441206, rs370250575, rs1554713996, rs754470891, rs750400215, rs1564032190, rs149371668, rs199881654, rs201557720, rs759180739, rs116693683, rs114868002, rs114649126, rs112166059, rs138739899, rs114869733, rs115758363, rs114114032, rs139983081, rs116178720, rs201155271, rs142210244, rs34038073, rs143946731, rs116342444, rs370791961, rs58169581	RCV001328857 RCV001336248 RCV001336249 RCV001336250 RCV001354202 RCV002499750 RCV002495819 RCV002488489 RCV002478046 RCV002486753 RCV002492292 RCV002479571 RCV002478123 RCV002482652 RCV002492047 RCV002484851 RCV002479837 RCV002479532 RCV002486594 RCV002478139 RCV002484499 RCV002490134 RCV002492305 RCV002497843 RCV002497841 RCV002484753 RCV002492080 RCV002503619 RCV002492100 RCV002497934 RCV002492104 RCV002479645 RCV002479646 RCV002479648 RCV002490177 RCV002492359 RCV002478375 RCV002492286 RCV002490207 RCV002492253 RCV002482799 RCV002482423 RCV002486618 RCV002479419 RCV002478105 RCV002506884 RCV002490107 RCV002503569 RCV002490250 RCV002489945 RCV002479502 RCV002482467 RCV002489962 RCV002479693 RCV002498179 RCV002486860 RCV002486970 RCV002494217 RCV002500101 RCV002494488 RCV002479851 RCV002498248 RCV002494136 RCV002499934 RCV002498095 RCV002480969 RCV002486990 RCV002499978 RCV002496149 RCV003989771 RCV003134592 RCV003133771 RCV003131294 RCV002494893 RCV003333340 RCV003340797 RCV003993574 RCV003991739 RCV000477905 RCV002489197 RCV000655956 RCV002481716 RCV002506441 RCV000723309 RCV002489343 RCV002503015 RCV002479122 RCV002501494 RCV002507550 RCV002501365 RCV002495396 RCV002501423 RCV002495393 RCV002501408 RCV002495380 RCV002505268 RCV002487977 RCV002502715 RCV002505359 RCV002505365 RCV002479075 RCV002495569 RCV002502854 RCV002505525 RCV001198689
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs149593664, rs76738278, rs758108591	RCV005916506 RCV005891005 RCV005935027
Cholangiocarcinoma	Benign; Likely benign	rs12352313, rs58169581	RCV005909376 RCV005868347 RCV005869560
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs58169581	RCV005869561
Clear cell carcinoma of kidney	Benign; Likely benign	rs4742277, rs188742425, rs7047725	RCV005914246 RCV005906063 RCV005903572
Colon adenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs4742277, rs12352313, rs58169581, rs139624364, rs76738278, rs114914725, rs7047725	RCV005914243 RCV005909367 RCV005868247 RCV005925452 RCV005891002 RCV005903363 RCV005903571
Colorectal cancer	Benign	rs4742277, rs12352313, rs58169581	RCV005914247 RCV005909371 RCV005868252
Familial cancer of breast	Benign; Likely benign	rs58169581, rs200821295	RCV005868246 RCV005928065 RCV005869555
Familial pancreatic carcinoma	Benign; Likely benign	rs1554721658	RCV005870962
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs58169581, rs140326298, rs76738278, rs758108591, rs114914725	RCV005868253 RCV005930540 RCV005891007 RCV005935028 RCV005903365
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	rs115382946, rs58169581	RCV005920598 RCV005869556
KANK1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs144580853, rs148558003, rs148744436, rs144505189, rs372609027, rs1215545446, rs766169056, rs114947217, rs143785996, rs143880438, rs202056007, rs114784029, rs373324342, rs141509675, rs149775124, rs184585076, rs144003040, rs1416952384, rs113586916, rs369894037, rs140326298, rs35754868, rs566519749, rs371377616, rs17853810, rs760526483, rs112726122, rs145499266, rs565523396, rs538681873, rs1244241870, rs1043358235, rs2538595995, rs141710381, rs779925842, rs2539734630, rs776568652, rs138067222, rs748143670, rs773803984, rs1261505374, rs1185323407, rs114440343, rs117914490, rs372115346, rs1001834568, rs2540335110, rs376052597, rs754470891, rs183362306, rs200751333, rs199881654, rs201557720, rs114218421, rs114625699, rs113362230, rs34662647, rs759180739, rs112166059, rs138739899, rs111273694, rs148157700, rs202042142, rs34038073, rs748553284	RCV004533791 RCV004542099 RCV004538635 RCV004538587 RCV004538705 RCV004536357 RCV004542168 RCV004543719 RCV004543766 RCV004531352 RCV004543729 RCV004543901 RCV004538776 RCV004543856 RCV004538761 RCV004531424 RCV004545235 RCV004734451 RCV004545241 RCV004538809 RCV004540566 RCV004538839 RCV004540618 RCV004534135 RCV004545369 RCV004545394 RCV004736234 RCV004545465 RCV004736237 RCV004736297 RCV004528629 RCV004531709 RCV004534232 RCV004536852 RCV004539171 RCV004534459 RCV004534470 RCV004542505 RCV004531834 RCV004531850 RCV004544113 RCV004532037 RCV004542372 RCV004544106 RCV004542344 RCV004544062 RCV004542575 RCV004540751 RCV000709863 RCV004543389 RCV004530720 RCV004535933 RCV004535943 RCV004535926 RCV004535980 RCV004535961 RCV004535927 RCV004535950 RCV004541843 RCV004541805 RCV004530966 RCV004541924 RCV004541902 RCV004543477 RCV004543480 RCV004533576
Lung cancer	Benign	rs116634011, rs114914725	RCV005909801 RCV005903366
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs12352313, rs58169581	RCV005909370 RCV005868251 RCV005868346 RCV005869559
Malignant tumor of esophagus	Benign; Likely benign	rs58169581	RCV005868248 RCV005868344
Melanoma	Benign; Conflicting classifications of pathogenicity	rs4742277, rs12352313, rs201456672	RCV005914251 RCV005909375 RCV005924303
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs4742277, rs12352313, rs58169581, rs76738278	RCV005914245 RCV005909369 RCV005868249 RCV005891004 RCV005869557
Ovarian cancer	Benign; Likely benign	rs116634011, rs58169581, rs1554721658	RCV005909797 RCV005869558 RCV005870961
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs4742277, rs76738278, rs7047725	RCV005914249 RCV005891008 RCV005903573
Rare genetic intellectual disability	Likely benign; Uncertain significance	rs113362230, rs113784365	RCV001257027 RCV001257026
Sarcoma	Benign; Uncertain significance; Likely benign	rs4742277, rs12352313, rs116634011, rs377603639, rs12000920	RCV005914248 RCV005909372 RCV005909798 RCV005930476 RCV005913380
Schizophrenia	Uncertain significance	rs2539522016	RCV002463498
Thymoma	Benign	rs4742277, rs12352313, rs116634011	RCV005914250 RCV005909374 RCV005909799
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity; Likely benign	rs116634011, rs200239036, rs188742425	RCV005909800 RCV005924104 RCV005906064
Uterine carcinosarcoma	Benign	rs12352313, rs7047725	RCV005909373 RCV005903574
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	rs116634011, rs115382946, rs142088222, rs1261505374, rs114914725, rs7047725	RCV005909802 RCV005920599 RCV005930468 RCV005933338 RCV005903367 RCV005903575
Uveal melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs58169581, rs76738278	RCV005868250 RCV005868345 RCV005891006

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