Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23189
Gene name	KN motif and ankyrin repeat domains 1
Gene symbol	KANK1
Synonyms (NCBI Gene)	ANKRD15CPSQ2KANK
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

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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

157

Show/Hide all (157)

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

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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

MIM	HGNC	e!Ensembl
607704	19309	ENSG00000107104

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs372628779	RCV000454209	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (41)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of neuronal migration	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy, spastic quadriplegic, 2	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KANK1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SKIN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (67)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35045337	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Asthma	Asthma	Pubtator	35606283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29729439, 33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29729439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24399197, 31679074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31679074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31642198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24399197, 29956815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25973051	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	16301218, 23454270, 23836506, 29729439, 30684669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	25973051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Spastic Quadriplegic, 1	Cerebral palsy	ORPHANET_DG	16301218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy, Spastic Quadriplegic, 2	Cerebral palsy	GENOMICS_ENGLAND_DG	16301218		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebral Palsy, Spastic Quadriplegic, 2	Cerebral palsy	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Cerebral Palsy	Congenital Cerebral Palsy	BEFREE	23454270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	19559006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15596059, 25973051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29729439, 33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited congenital spastic tetraplegia	Hereditary Congenital Spastic Tetraplegia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23454270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32064933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33455084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20073072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24399197, 31679074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24399197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24399197, 29956815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28731169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24399197, 28731169, 29956815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28067315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	25973051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25973051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25973051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	25973051	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15596059, 24399197, 25973051, 28067315, 28284839, 28731169, 29141020, 29956815, 31338836, 31679074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	25961457, 29217769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	25961457		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30684669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29729439		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	28067315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34446027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396, 31649266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16081684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	16081684	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	24399197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15596059, 25973051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28731169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32064933, 35320976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	21685469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	21685469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31642198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396, 31649266		★★★★★ ★☆☆☆☆ Found in Text Mining only

KANK1 (KN motif and ankyrin repeat domains 1)