PTPRK (protein tyrosine phosphatase receptor type K)

Download as csv Download as pdf

Log in to save this analysis

Save This Analysis

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5796
• Gene name: Protein tyrosine phosphatase receptor type K
• Gene symbol: PTPRK
• Synonyms (NCBI Gene): R-PTP-kappa
• Chromosome: 6
• Chromosome location: 6q22.33
• Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

miRNA Show/Hide all (233)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005161	hsa-miR-30a-5p	pSILAC	18668040
MIRT007126	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT007126	hsa-miR-133b	Luciferase reporter assay	23451058
MIRT021457	hsa-miR-9-5p	Microarray	17612493
MIRT005161	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT045592	hsa-miR-149-5p	CLASH	23622248
MIRT042465	hsa-miR-423-3p	CLASH	23622248
MIRT039631	hsa-miR-615-3p	CLASH	23622248
MIRT037091	hsa-miR-877-3p	CLASH	23622248
MIRT036651	hsa-miR-935	CLASH	23622248
MIRT036651	hsa-miR-935	CLASH	23622248
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT546895	hsa-miR-1283	PAR-CLIP	21572407
MIRT439860	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439860	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT546895	hsa-miR-1283	PAR-CLIP	27292025
MIRT546895	hsa-miR-1283	PAR-CLIP	27292025
MIRT546895	hsa-miR-1283	PAR-CLIP	27292025
MIRT546895	hsa-miR-1283	PAR-CLIP	27292025
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	27292025
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	27292025
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	27292025
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	27292025
MIRT546897	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT546896	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT546895	hsa-miR-1283	PAR-CLIP	21572407
MIRT2081289	hsa-miR-105	CLIP-seq
MIRT2081290	hsa-miR-4699-3p	CLIP-seq
MIRT2081291	hsa-miR-4731-3p	CLIP-seq
MIRT2081292	hsa-miR-4801	CLIP-seq
MIRT2081293	hsa-miR-579	CLIP-seq
MIRT2307183	hsa-miR-1245b-5p	CLIP-seq
MIRT2307184	hsa-miR-1276	CLIP-seq
MIRT2307185	hsa-miR-1343	CLIP-seq
MIRT2307186	hsa-miR-136	CLIP-seq
MIRT2307187	hsa-miR-142-5p	CLIP-seq
MIRT2307188	hsa-miR-149	CLIP-seq
MIRT2307189	hsa-miR-186	CLIP-seq
MIRT2307190	hsa-miR-1910	CLIP-seq
MIRT2307191	hsa-miR-194	CLIP-seq
MIRT2307192	hsa-miR-2115	CLIP-seq
MIRT2307193	hsa-miR-218	CLIP-seq
MIRT2307194	hsa-miR-24	CLIP-seq
MIRT2307195	hsa-miR-299-5p	CLIP-seq
MIRT2307196	hsa-miR-29a	CLIP-seq
MIRT2307197	hsa-miR-29b	CLIP-seq
MIRT2307198	hsa-miR-29c	CLIP-seq
MIRT2307199	hsa-miR-3123	CLIP-seq
MIRT2307200	hsa-miR-3130-3p	CLIP-seq
MIRT2307201	hsa-miR-3133	CLIP-seq
MIRT2307202	hsa-miR-3142	CLIP-seq
MIRT2307203	hsa-miR-3160-3p	CLIP-seq
MIRT2307204	hsa-miR-3160-5p	CLIP-seq
MIRT2307205	hsa-miR-340	CLIP-seq
MIRT2307206	hsa-miR-34b	CLIP-seq
MIRT2307207	hsa-miR-34c-3p	CLIP-seq
MIRT2307208	hsa-miR-3653	CLIP-seq
MIRT2307209	hsa-miR-3658	CLIP-seq
MIRT2307210	hsa-miR-382	CLIP-seq
MIRT2307211	hsa-miR-3922-5p	CLIP-seq
MIRT2307212	hsa-miR-3977	CLIP-seq
MIRT2307213	hsa-miR-4284	CLIP-seq
MIRT2307214	hsa-miR-4291	CLIP-seq
MIRT2307215	hsa-miR-4311	CLIP-seq
MIRT2307216	hsa-miR-4325	CLIP-seq
MIRT2307217	hsa-miR-4477a	CLIP-seq
MIRT2307218	hsa-miR-4487	CLIP-seq
MIRT2307219	hsa-miR-4495	CLIP-seq
MIRT2307220	hsa-miR-4520a-3p	CLIP-seq
MIRT2307221	hsa-miR-455-3p	CLIP-seq
MIRT2307222	hsa-miR-4659a-3p	CLIP-seq
MIRT2307223	hsa-miR-4659b-3p	CLIP-seq
MIRT2307224	hsa-miR-4662a-3p	CLIP-seq
MIRT2307225	hsa-miR-4668-3p	CLIP-seq
MIRT2307226	hsa-miR-4680-5p	CLIP-seq
MIRT2307227	hsa-miR-4698	CLIP-seq
MIRT2081290	hsa-miR-4699-3p	CLIP-seq
MIRT2307228	hsa-miR-4708-3p	CLIP-seq
MIRT2307229	hsa-miR-4724-5p	CLIP-seq
MIRT2081291	hsa-miR-4731-3p	CLIP-seq
MIRT2307230	hsa-miR-4760-3p	CLIP-seq
MIRT2307231	hsa-miR-4778-3p	CLIP-seq
MIRT2307232	hsa-miR-4793-3p	CLIP-seq
MIRT2081292	hsa-miR-4801	CLIP-seq
MIRT2307233	hsa-miR-490-5p	CLIP-seq
MIRT2307234	hsa-miR-515-5p	CLIP-seq
MIRT2307235	hsa-miR-516a-3p	CLIP-seq
MIRT2307236	hsa-miR-544	CLIP-seq
MIRT2307237	hsa-miR-545	CLIP-seq
MIRT2307238	hsa-miR-548ae	CLIP-seq
MIRT2307239	hsa-miR-548aj	CLIP-seq
MIRT2307240	hsa-miR-548am	CLIP-seq
MIRT2307241	hsa-miR-548l	CLIP-seq
MIRT2307242	hsa-miR-548p	CLIP-seq
MIRT2307243	hsa-miR-548x	CLIP-seq
MIRT2307244	hsa-miR-556-5p	CLIP-seq
MIRT2307245	hsa-miR-558	CLIP-seq
MIRT2081293	hsa-miR-579	CLIP-seq
MIRT2307246	hsa-miR-583	CLIP-seq
MIRT2307247	hsa-miR-627	CLIP-seq
MIRT2307248	hsa-miR-636	CLIP-seq
MIRT2307249	hsa-miR-767-5p	CLIP-seq
MIRT2307250	hsa-miR-9	CLIP-seq
MIRT2307251	hsa-miR-924	CLIP-seq
MIRT2307217	hsa-miR-4477a	CLIP-seq
MIRT2307224	hsa-miR-4662a-3p	CLIP-seq
MIRT2081291	hsa-miR-4731-3p	CLIP-seq
MIRT2081292	hsa-miR-4801	CLIP-seq
MIRT2432335	hsa-miR-1178	CLIP-seq
MIRT2432336	hsa-miR-4645-3p	CLIP-seq
MIRT2432337	hsa-miR-4725-5p	CLIP-seq
MIRT2081291	hsa-miR-4731-3p	CLIP-seq
MIRT2432338	hsa-miR-4766-5p	CLIP-seq
MIRT2081292	hsa-miR-4801	CLIP-seq
MIRT2432339	hsa-miR-504	CLIP-seq
MIRT2432340	hsa-miR-582-5p	CLIP-seq
MIRT2307188	hsa-miR-149	CLIP-seq
MIRT2307194	hsa-miR-24	CLIP-seq
MIRT2307213	hsa-miR-4284	CLIP-seq
MIRT2307220	hsa-miR-4520a-3p	CLIP-seq
MIRT2307188	hsa-miR-149	CLIP-seq
MIRT2307194	hsa-miR-24	CLIP-seq
MIRT2307213	hsa-miR-4284	CLIP-seq
MIRT2307220	hsa-miR-4520a-3p	CLIP-seq
MIRT2432335	hsa-miR-1178	CLIP-seq
MIRT2604670	hsa-miR-1208	CLIP-seq
MIRT2604671	hsa-miR-1322	CLIP-seq
MIRT2307186	hsa-miR-136	CLIP-seq
MIRT2604672	hsa-miR-1825	CLIP-seq
MIRT2307189	hsa-miR-186	CLIP-seq
MIRT2604673	hsa-miR-19a	CLIP-seq
MIRT2604674	hsa-miR-19b	CLIP-seq
MIRT2604675	hsa-miR-203	CLIP-seq
MIRT2604676	hsa-miR-2116	CLIP-seq
MIRT2604677	hsa-miR-299-3p	CLIP-seq
MIRT2307201	hsa-miR-3133	CLIP-seq
MIRT2307204	hsa-miR-3160-5p	CLIP-seq
MIRT2604678	hsa-miR-323b-3p	CLIP-seq
MIRT2604679	hsa-miR-3591-3p	CLIP-seq
MIRT2604680	hsa-miR-3613-3p	CLIP-seq
MIRT2604681	hsa-miR-3622b-5p	CLIP-seq
MIRT2604682	hsa-miR-3646	CLIP-seq
MIRT2604683	hsa-miR-3688-5p	CLIP-seq
MIRT2307210	hsa-miR-382	CLIP-seq
MIRT2604684	hsa-miR-3929	CLIP-seq
MIRT2604685	hsa-miR-409-3p	CLIP-seq
MIRT2604686	hsa-miR-4282	CLIP-seq
MIRT2604687	hsa-miR-4289	CLIP-seq
MIRT2604688	hsa-miR-4419b	CLIP-seq
MIRT2604689	hsa-miR-4420	CLIP-seq
MIRT2604690	hsa-miR-4422	CLIP-seq
MIRT2604691	hsa-miR-4423-5p	CLIP-seq
MIRT2604692	hsa-miR-4438	CLIP-seq
MIRT2307217	hsa-miR-4477a	CLIP-seq
MIRT2604693	hsa-miR-4478	CLIP-seq
MIRT2604694	hsa-miR-4491	CLIP-seq
MIRT2604695	hsa-miR-4640-5p	CLIP-seq
MIRT2432336	hsa-miR-4645-3p	CLIP-seq
MIRT2604696	hsa-miR-4657	CLIP-seq
MIRT2307222	hsa-miR-4659a-3p	CLIP-seq
MIRT2604697	hsa-miR-4659a-5p	CLIP-seq
MIRT2307223	hsa-miR-4659b-3p	CLIP-seq
MIRT2604698	hsa-miR-4659b-5p	CLIP-seq
MIRT2604699	hsa-miR-4704-5p	CLIP-seq
MIRT2307228	hsa-miR-4708-3p	CLIP-seq
MIRT2432337	hsa-miR-4725-5p	CLIP-seq
MIRT2604700	hsa-miR-4726-5p	CLIP-seq
MIRT2604701	hsa-miR-4731-5p	CLIP-seq
MIRT2604702	hsa-miR-4744	CLIP-seq
MIRT2432338	hsa-miR-4766-5p	CLIP-seq
MIRT2604703	hsa-miR-4776-3p	CLIP-seq
MIRT2604704	hsa-miR-4781-3p	CLIP-seq
MIRT2432339	hsa-miR-504	CLIP-seq
MIRT2604705	hsa-miR-512-3p	CLIP-seq
MIRT2604706	hsa-miR-526b	CLIP-seq
MIRT2604707	hsa-miR-539	CLIP-seq
MIRT2307237	hsa-miR-545	CLIP-seq
MIRT2307238	hsa-miR-548ae	CLIP-seq
MIRT2307239	hsa-miR-548aj	CLIP-seq
MIRT2307240	hsa-miR-548am	CLIP-seq
MIRT2307243	hsa-miR-548x	CLIP-seq
MIRT2604708	hsa-miR-578	CLIP-seq
MIRT2432340	hsa-miR-582-5p	CLIP-seq
MIRT2432335	hsa-miR-1178	CLIP-seq
MIRT2604670	hsa-miR-1208	CLIP-seq
MIRT2307186	hsa-miR-136	CLIP-seq
MIRT2604672	hsa-miR-1825	CLIP-seq
MIRT2307189	hsa-miR-186	CLIP-seq
MIRT2307201	hsa-miR-3133	CLIP-seq
MIRT2689105	hsa-miR-3148	CLIP-seq
MIRT2307204	hsa-miR-3160-5p	CLIP-seq
MIRT2604678	hsa-miR-323b-3p	CLIP-seq
MIRT2604679	hsa-miR-3591-3p	CLIP-seq
MIRT2604680	hsa-miR-3613-3p	CLIP-seq
MIRT2604681	hsa-miR-3622b-5p	CLIP-seq
MIRT2604684	hsa-miR-3929	CLIP-seq
MIRT2604686	hsa-miR-4282	CLIP-seq
MIRT2604688	hsa-miR-4419b	CLIP-seq
MIRT2604689	hsa-miR-4420	CLIP-seq
MIRT2604690	hsa-miR-4422	CLIP-seq
MIRT2604691	hsa-miR-4423-5p	CLIP-seq
MIRT2604692	hsa-miR-4438	CLIP-seq
MIRT2604693	hsa-miR-4478	CLIP-seq
MIRT2604695	hsa-miR-4640-5p	CLIP-seq
MIRT2432336	hsa-miR-4645-3p	CLIP-seq
MIRT2307222	hsa-miR-4659a-3p	CLIP-seq
MIRT2604697	hsa-miR-4659a-5p	CLIP-seq
MIRT2307223	hsa-miR-4659b-3p	CLIP-seq
MIRT2604698	hsa-miR-4659b-5p	CLIP-seq
MIRT2604699	hsa-miR-4704-5p	CLIP-seq
MIRT2432337	hsa-miR-4725-5p	CLIP-seq
MIRT2604700	hsa-miR-4726-5p	CLIP-seq
MIRT2604701	hsa-miR-4731-5p	CLIP-seq
MIRT2604702	hsa-miR-4744	CLIP-seq
MIRT2432338	hsa-miR-4766-5p	CLIP-seq
MIRT2604703	hsa-miR-4776-3p	CLIP-seq
MIRT2604704	hsa-miR-4781-3p	CLIP-seq
MIRT2432339	hsa-miR-504	CLIP-seq
MIRT2604705	hsa-miR-512-3p	CLIP-seq
MIRT2604706	hsa-miR-526b	CLIP-seq
MIRT2604707	hsa-miR-539	CLIP-seq
MIRT2307238	hsa-miR-548ae	CLIP-seq
MIRT2307239	hsa-miR-548aj	CLIP-seq
MIRT2307240	hsa-miR-548am	CLIP-seq
MIRT2307243	hsa-miR-548x	CLIP-seq
MIRT2604708	hsa-miR-578	CLIP-seq
MIRT2432340	hsa-miR-582-5p	CLIP-seq
MIRT2689106	hsa-miR-873	CLIP-seq

Gene ontology (GO) Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	8663237, 16263724, 16849327
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	NAS	9047348
GO:0005515	Function	Protein binding	IPI	15899872, 19167335, 21690299, 33961781
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	9047348
GO:0005911	Component	Cell-cell junction	IDA	8663237
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	16263724
GO:0007155	Process	Cell adhesion	IMP	15899872
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IDA	16849327
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	15899872
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	8663237
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15899872, 18276111
GO:0009986	Component	Cell surface	IDA	18276111
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IDA	16263724
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9047348
GO:0016477	Process	Cell migration	IMP	15899872
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	15899872
GO:0030054	Component	Cell junction	IDA
GO:0030336	Process	Negative regulation of cell migration	IDA	18276111
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0031175	Process	Neuron projection development	IBA
GO:0031256	Component	Leading edge membrane	IDA	15899872
GO:0034394	Process	Protein localization to cell surface	IDA	18276111
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	16849327
GO:0034644	Process	Cellular response to UV	IDA	16849327
GO:0045295	Function	Gamma-catenin binding	IPI	8663237
GO:0045786	Process	Negative regulation of cell cycle	IDA	15899872
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	18276111
GO:0048041	Process	Focal adhesion assembly	IMP	15899872
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 602545
• HGNC: 9674
• e!Ensembl: ENSG00000152894

Protein

• UniProt ID: Q15262
• Protein name: Receptor-type tyrosine-protein phosphatase kappa (Protein-tyrosine phosphatase kappa) (R-PTP-kappa) (EC 3.1.3.48)
• Protein function: Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may b
• PDB: 2C7S , 8A1F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00041	fn3	493 → 583	Fibronectin type III domain	Domain
  PF00041	fn3	292 → 376	Fibronectin type III domain	Domain
  PF00102	Y_phosphatase	910 → 1140	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	1200 → 1434	Protein-tyrosine phosphatase	Domain
  PF00629	MAM	36 → 193	MAM domain, meprin/A5/mu	Domain
  PF07679	I-set	197 → 288	Immunoglobulin I-set domain	Domain
  PF18861	PTP_tm	621 → 778	Transmembrane domain of protein tyrosine phosphatase, receptor type J	Family

• Tissue specificity: TISSUE SPECIFICITY: High levels in lung, brain and colon; less in liver, pancreas, stomach, kidney, placenta and mammary carcinoma.
• Sequence:

  MDTTAAAALPAFVALLLLSPWPLLGSAQGQFSAGGCTFDDGPGACDYHQDLYDDFEWVHV
  SAQEPHYLPPEMPQGSYMIVDSSDHDPGEKARLQLPTMKENDTHCIDFSYLLYSQKGLNP
  GTLNILVRVNKGPLANPIWNVTGFTGRDWLRAELAVSTFWPNEYQVIFEAEVSGGRSGYI
  AIDDIQVLSYPCDKSPHFLRLGDVEVNAGQNATFQCIATGRDAVHNKLWLQRRNGEDIPV
  AQTKNINHRRFAASFRLQEVTKTDQDLYRCVTQSERGSGVSNFAQLIVREPPRPIAPPQL
  LGVGPTYLLIQLNANSIIGDGPIILKEVEYRMTSGSWTETHAVNAPTYKLWHLDPDTEYE
  IRVLLTRPGEGGTGLPGPPLITRTKCAEPMRTPKTLKIAEIQARRIAVDWESLGYNITRC
  HTFNVTICYHYFRGHNESKADCLDMDPKAPQHVVNHLPPYTNVSLKMILTNPEGRKESEE
  TIIQTDEDVPGPVPVKSLQGTSFENKIFLNWKEPLDPNGIITQYEISYSSIRSFDPAVPV
  AGPPQTVSNLWNSTHHVFMHLHPGTTYQFFIRASTVKGFGPATAINVTTNISAPTLPDYE
  GVDASLNETATTITVLLRPAQAKGAPISAYQIVVEELHPHRTKREAGAMECYQVPVTYQN
  AMSGGAPYYFAAELPPGNLPEPAPFTVGDNRTYQGFWNPPLAPRKGYNIYFQAMSSVEKE
  TKTQCVRIATKAATEEPEVIPDPAKQTDRVVKIAGISAGILVFILLLLVVILIVKKSKLA
  KKRKDAMGNTRQEMTHMVNAMDRSYADQSTLHAEDPLSITFMDQHNFSPRYENHSATAES
  SRLLDVPRYLCEGTESPYQTGQLHPAIRVADLLQHINLMKTSDSYGFKEEYESFFEGQSA
  SWDVAKKDQNRAKNRYGNIIAYDHSRVILQPVEDDPSSDYINANYIDGYQRPSHYIATQG
  PVHETVYDFWRMIWQEQSACIVMVTNLVEVGRVKCYKYWPDDTEVYGDFKVTCVEMEPLA
  EYVVRTFTLERRGYNEIREVKQFHFTGWPDHGVPYHATGLLSFIRRVKLSNPPSAGPIVV
  HCSAGAGRTGCYIVIDIMLDMAEREGVVDIYNCVKALRSRRINMVQTEEQYIFIHDAILE
  ACLCGETAIPVCEFKAAYFDMIRIDSQTNSSHLKDEFQTLNSVTPRLQAEDCSIACLPRN
  HDKNRFMDMLPPDRCLPFLITIDGESSNYINAALMDSYRQPAAFIVTQYPLPNTVKDFWR
  LVYDYGCTSIVMLNEVDLSQGCPQYWPEEGMLRYGPIQVECMSCSMDCDVINRIFRICNL
  TRPQEGYLMVQQFQYLGWASHREVPGSKRSFLKLILQVEKWQEECEEGEGRTIIHCLNGG
  GRSGMFCAIGIVVEMVKRQNVVDVFHAVKTLRNSKPNMVEAPEQYRFCYDVALEYLESS

• Sequence length: 1439

Pathways

Reactome Pathway:

EGFR downregulation

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (45)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	29083406, 30929738, 31361310, 31619474, 31669095, 31959851, 32296059, 34103634, 36344522, 36777996, 37560908, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	20190752, 22057235, 30572963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	30929738, 31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	31407831	★★☆☆☆ 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; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	23128233, 26192919, 26974007, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	30531953	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	30531953, 37653029	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	20068591	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	29196614	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	23128233, 26192919, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	39024449	★★☆☆☆ 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
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar CTD	22535842, 22842228	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MULTIPLE SCLEROSIS	—	GWAS catalog	21833088, 31407831, 31604244, 40262193	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	17013881	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	30595370, 38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sellar metastasis from primary bronchial carcinoid tumor	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26192919, 26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (38)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	28987514	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23552869		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23552869	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30838170, 36129915	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	22057235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	22057235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	23820479, 36611909	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24847761, 25531322		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23552869, 28100566, 36129915	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25378349		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35986039	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28983737, 35986039	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	GWASCAT_DG	30531953		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	25612622	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23696788	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	17720884	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30838170	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23552869	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23552869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24847761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24002526		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24045499, 28987514, 29317492, 31069394		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842, 22842228		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neoplasms	Neoplasms	BEFREE	12591717, 15899872, 18276111, 18645192, 25612622, 30924770		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29628123		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31027318	Associate	★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	12591717		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24002526		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	20212451	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25378349		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31069394	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31069394		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25612622		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

THEMIS 6 shared diseasesCeliac disease, Lymphocytic leukemia, Hodgkin lymphoma, Narcolepsy, Respiratory system disease, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Lymphocytic leukemia), GWAS catalog (Hodgkin lymphoma), GWAS catalog (Narcolepsy), GWAS catalog (Respiratory system disease), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Celiac disease, Lymphocytic leukemia — evidence mostly GWAS catalog. CAMSAP2 3 shared diseasesCeliac disease, Epilepsy, Generalized epilepsy 3 shared evidence sourcesGWAS catalog (Celiac disease), GWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 3 shared diseases including Celiac disease, Epilepsy — evidence mostly GWAS catalog. ZNF217 3 shared diseasesEpilepsy, Generalized epilepsy, Respiratory system disease 3 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy), GWAS catalog (Respiratory system disease) Related via 3 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog. SNX20 2 shared diseasesRespiratory system disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Respiratory system disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Respiratory system disease, Sclerosing cholangitis — evidence mostly GWAS catalog. INAVA 2 shared diseasesCeliac disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Celiac disease, Sclerosing cholangitis — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
THEMIS	6	["Celiac disease","Lymphocytic leukemia","Hodgkin lymphoma","Narcolepsy","Respiratory system disease","Sclerosing cholangitis"]	0	[]	7	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Celiac disease)","GWAS catalog (Lymphocytic leukemia)","GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Narcolepsy)","GWAS catalog (Respiratory system disease)","GWAS catalog (Sclerosing cholangitis)"]
CAMSAP2	3	["Celiac disease","Epilepsy","Generalized epilepsy"]	0	[]	3	["GWAS catalog (Celiac disease)","GWAS catalog (Epilepsy)","GWAS catalog (Generalized epilepsy)"]
ZNF217	3	["Epilepsy","Generalized epilepsy","Respiratory system disease"]	0	[]	3	["GWAS catalog (Epilepsy)","GWAS catalog (Generalized epilepsy)","GWAS catalog (Respiratory system disease)"]
SNX20	2	["Respiratory system disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Respiratory system disease)","GWAS catalog (Sclerosing cholangitis)"]
INAVA	2	["Celiac disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Celiac disease)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Rheumatoid arthritis Linked via 2 of 5 related genesSNX20, INAVA Colorectal cancer Linked via 1 of 5 related genesTHEMIS Uterine fibroid Linked via 1 of 5 related genesTHEMIS Hypothyroidism Linked via 1 of 5 related genesCAMSAP2 Myocardial infarction Linked via 1 of 5 related genesCAMSAP2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Rheumatoid arthritis	2	["SNX20","INAVA"]
Colorectal cancer	1	["THEMIS"]
Uterine fibroid	1	["THEMIS"]
Hypothyroidism	1	["CAMSAP2"]
Myocardial infarction	1	["CAMSAP2"]