CCNE1 (cyclin E1)

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

Gene

• Entrez ID: 898
• Gene name: Cyclin E1
• Gene symbol: CCNE1
• Synonyms (NCBI Gene): CCNE, pCCNE1
• Chromosome: 19
• Chromosome location: 19q12
• Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit

miRNA Show/Hide all (236)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001228	hsa-miR-15a-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001228	hsa-miR-15a-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, Luciferase reporter assay, Western blot	19591824
MIRT001226	hsa-miR-16-5p	qRT-PCR, flow, Luciferase reporter assay, Western blot	18701644
MIRT001226	hsa-miR-16-5p	qRT-PCR, flow, Western blot	18701644
MIRT000936	hsa-miR-424-5p	qRT-PCR, flow, Western blot	18701644
MIRT000936	hsa-miR-424-5p	Luciferase reporter assay	19956200
MIRT000646	hsa-miR-503-5p	Luciferase reporter assay	19956200
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay	19549910
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay	19549910
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay	18794849
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay	18701644
MIRT001226	hsa-miR-16-5p	Review	20130964
MIRT001228	hsa-miR-15a-5p	immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR	19117988
MIRT004693	hsa-miR-107	Flow, Immunoblot, Microarray, qRT-PCR	19688090
MIRT004698	hsa-miR-185-5p	Flow, Immunoblot, Microarray, qRT-PCR	19688090
MIRT004762	hsa-miR-103a-3p	Luciferase reporter assay, qRT-PCR, Western blot	20886090
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay, qRT-PCR, Western blot	19135980
MIRT000276	hsa-miR-15b-5p	Luciferase reporter assay, qRT-PCR, Western blot	19135980
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	19250063
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	19250063
MIRT000936	hsa-miR-424-5p	Immunohistochemistry, qRT-PCR, Western blot	21179471
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006308	hsa-miR-26b-5p	Luciferase reporter assay, Western blot	22210897
MIRT006309	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	22210897
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT006741	hsa-miR-16-1-3p	Luciferase reporter assay	19944013
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay	23083510
MIRT007237	hsa-miR-195-5p	Luciferase reporter assay	23383003
MIRT024440	hsa-miR-215-5p	Microarray	19074876
MIRT026235	hsa-miR-192-5p	Microarray	19074876
MIRT001226	hsa-miR-16-5p	Microarray	21199864
MIRT035523	hsa-miR-151a-3p	Luciferase reporter assay	23416081
MIRT001226	hsa-miR-16-5p	CLASH	23622248
MIRT049367	hsa-miR-92a-3p	CLASH	23622248
MIRT049367	hsa-miR-92a-3p	CLASH	23622248
MIRT045919	hsa-miR-125b-5p	CLASH	23622248
MIRT038211	hsa-miR-342-5p	CLASH	23622248
MIRT000276	hsa-miR-15b-5p	qRT-PCR, Western blot	22045185
MIRT001228	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23900351
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	24112607
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	24112607
MIRT007237	hsa-miR-195-5p	Luciferase reporter assay, Western blot	23544130
MIRT081649	hsa-miR-497-5p	Luciferase reporter assay, Western blot	23544130
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT438133	hsa-miR-7-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24370822
MIRT081649	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT007237	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT001226	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT000936	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT000646	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT558888	hsa-miR-646	PAR-CLIP	20371350
MIRT081648	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT558887	hsa-miR-5191	PAR-CLIP	20371350
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT558884	hsa-miR-4477a	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT000936	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT081649	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT001226	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT007237	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT000646	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT558888	hsa-miR-646	PAR-CLIP	21572407
MIRT081648	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT558887	hsa-miR-5191	PAR-CLIP	21572407
MIRT558886	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT558885	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558884	hsa-miR-4477a	PAR-CLIP	21572407
MIRT001228	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT000276	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT001226	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT007237	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT006309	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT006308	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT438133	hsa-miR-7-5p	qRT-PCR, Western blot	27391479
MIRT001228	hsa-miR-15a-5p	Western blot	26397135
MIRT001226	hsa-miR-16-5p	Western blot	26397135
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	25830480
MIRT001226	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	25830480
MIRT007237	hsa-miR-195-5p	qRT-PCR	31656079
MIRT734771	hsa-miR-29b-3p	Luciferase reporter assay, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR	33679655
MIRT081649	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT007237	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT001226	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT000936	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT000646	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT558888	hsa-miR-646	PAR-CLIP	20371350
MIRT081648	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT558887	hsa-miR-5191	PAR-CLIP	20371350
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT558884	hsa-miR-4477a	PAR-CLIP	20371350
MIRT001228	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT000936	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT081649	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT001226	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT081654	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT000276	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT007237	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT000646	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT081652	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT558888	hsa-miR-646	PAR-CLIP	21572407
MIRT081648	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT558887	hsa-miR-5191	PAR-CLIP	21572407
MIRT558886	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT558885	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT081651	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT081653	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558884	hsa-miR-4477a	PAR-CLIP	21572407
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871796	hsa-miR-1289	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871801	hsa-miR-185	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871810	hsa-miR-4306	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871812	hsa-miR-4491	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871814	hsa-miR-4644	CLIP-seq
MIRT871815	hsa-miR-4657	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871818	hsa-miR-505	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871821	hsa-miR-1204	CLIP-seq
MIRT871822	hsa-miR-1231	CLIP-seq
MIRT871796	hsa-miR-1289	CLIP-seq
MIRT871823	hsa-miR-1291	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871824	hsa-miR-138	CLIP-seq
MIRT871825	hsa-miR-144	CLIP-seq
MIRT871826	hsa-miR-146b-3p	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871827	hsa-miR-3140-3p	CLIP-seq
MIRT871828	hsa-miR-3157-3p	CLIP-seq
MIRT871829	hsa-miR-3173-5p	CLIP-seq
MIRT871830	hsa-miR-328	CLIP-seq
MIRT871831	hsa-miR-3652	CLIP-seq
MIRT871832	hsa-miR-3682-5p	CLIP-seq
MIRT871833	hsa-miR-3689d	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871834	hsa-miR-4265	CLIP-seq
MIRT871835	hsa-miR-4290	CLIP-seq
MIRT871836	hsa-miR-4296	CLIP-seq
MIRT871837	hsa-miR-4322	CLIP-seq
MIRT871838	hsa-miR-4430	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871839	hsa-miR-4505	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871840	hsa-miR-4648	CLIP-seq
MIRT871841	hsa-miR-4654	CLIP-seq
MIRT871842	hsa-miR-4769-5p	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871843	hsa-miR-498	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871844	hsa-miR-516b	CLIP-seq
MIRT871845	hsa-miR-521	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq
MIRT871846	hsa-miR-663b	CLIP-seq
MIRT871847	hsa-miR-874	CLIP-seq
MIRT871843	hsa-miR-498	CLIP-seq
MIRT871795	hsa-miR-103a	CLIP-seq
MIRT871822	hsa-miR-1231	CLIP-seq
MIRT2195464	hsa-miR-1256	CLIP-seq
MIRT871797	hsa-miR-1297	CLIP-seq
MIRT871824	hsa-miR-138	CLIP-seq
MIRT871798	hsa-miR-15a	CLIP-seq
MIRT871799	hsa-miR-15b	CLIP-seq
MIRT871800	hsa-miR-16	CLIP-seq
MIRT871802	hsa-miR-195	CLIP-seq
MIRT871803	hsa-miR-2114	CLIP-seq
MIRT871804	hsa-miR-26a	CLIP-seq
MIRT871805	hsa-miR-26b	CLIP-seq
MIRT871806	hsa-miR-29a	CLIP-seq
MIRT871807	hsa-miR-29b	CLIP-seq
MIRT871808	hsa-miR-29c	CLIP-seq
MIRT871831	hsa-miR-3652	CLIP-seq
MIRT871833	hsa-miR-3689d	CLIP-seq
MIRT2195465	hsa-miR-3910	CLIP-seq
MIRT871809	hsa-miR-424	CLIP-seq
MIRT871838	hsa-miR-4430	CLIP-seq
MIRT871811	hsa-miR-4465	CLIP-seq
MIRT871839	hsa-miR-4505	CLIP-seq
MIRT871813	hsa-miR-4524	CLIP-seq
MIRT871816	hsa-miR-497	CLIP-seq
MIRT871817	hsa-miR-503	CLIP-seq
MIRT871818	hsa-miR-505	CLIP-seq
MIRT871844	hsa-miR-516b	CLIP-seq
MIRT871845	hsa-miR-521	CLIP-seq
MIRT2195466	hsa-miR-548an	CLIP-seq
MIRT871819	hsa-miR-562	CLIP-seq
MIRT871820	hsa-miR-587	CLIP-seq

Transcription factors Show/Hide all (15)

Transcription factor	Regulation	Reference
ARNT	Repression	21544813
CBX7	Repression	22214847
E2F1	Activation	14618416;20220142;8618861
EP300	Activation	12414652
EZH2	Activation	20132185
HDAC2	Repression	22214847
IRF1	Repression	22200613
MYC	Activation	20607601
NR5A2	Unknown	19041685
PPARG	Repression	14960510
PROX1	Activation	21040746
TCF19	Repression	15051733
TFDP1	Activation	12029633;14618416
WT1	Repression	11919196
ZHX2	Repression	22406477

Gene ontology (GO) Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IBA
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	23083510, 25732226
GO:0000082	Process	G1/S transition of mitotic cell cycle	NAS	8207080, 15838514
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0005515	Function	Protein binding	IPI	8756624, 9840943, 9891079, 10330164, 16431923, 16504183, 16721056, 16765349, 17254966, 17254967, 17434132, 17525332, 19470470, 21092281, 21540187, 21952639, 21988832, 23455922, 23602568, 23853094, 24358021, 25241761, 25852190, 28514442, 32296183, 33961781, 34591612, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16109376, 19942931
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006270	Process	DNA replication initiation	IEA
GO:0006468	Process	Protein phosphorylation	IMP	10500095
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0051301	Process	Cell division	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0070192	Process	Chromosome organization involved in meiotic cell cycle	IEA
GO:0097134	Component	Cyclin E1-CDK2 complex	IBA
GO:0097134	Component	Cyclin E1-CDK2 complex	IEA
GO:0097134	Component	Cyclin E1-CDK2 complex	IPI	8756624
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IBA
GO:1902462	Process	Positive regulation of mesenchymal stem cell proliferation	IMP	23083510

Other IDs

• MIM: 123837
• HGNC: 1589
• e!Ensembl: ENSG00000105173

Protein

• UniProt ID: P24864
• Protein name: G1/S-specific cyclin-E1
• Protein function: Essential for the control of the cell cycle at the G1/S (start) transition.
• PDB: 1W98 , 5L2W , 7KJS , 7XQK , 8H4R , 8H6P , 8H6T , 8VQ3 , 8VQ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	115 → 242	Cyclin, N-terminal domain	Domain
  PF02984	Cyclin_C	244 → 366	Cyclin, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and placenta. Low levels in bronchial epithelial cells. {ECO:0000269|PubMed:9840943}.
• Sequence:

  MPRERRERDAKERDTMKEDGGAEFSARSRKRKANVTVFLQDPDEEMAKIDRTARDQCGSQ
  PWDNNAVCADPCSLIPTPDKEDDDRVYPNSTCKPRIIAPSRGSPLPVLSWANREEVWKIM
  LNKEKTYLRDQHFLEQHPLLQPKMRAILLDWLMEVCEVYKLHRETFYLAQDFFDRYMATQ
  ENVVKTLLQLIGISSLFIAAKLEEIYPPKLHQFAYVTDGACSGDEILTMELMIMKALKWR
  LSPLTIVSWLNVYMQVAYLNDLHEVLLPQYPQQIFIQIAELLDLCVLDVDCLEFPYGILA
  ASALYHFSSSELMQKVSGYQWCDIENCVKWMVPFAMVIRETGSSKLKHFRGVADEDAHNI
  QTHRDSLDLLDKARAKKAMLSEQNRASPLPSGLLTPPQSGKKQSSGPEMA

• Sequence length: 410

Pathways

KEGG Pathway	Reactome Pathway
Cell cycle	G0 and Early G1
Oocyte meiosis	SCF(Skp2)-mediated degradation of p27/p21
p53 signaling pathway	DNA Damage/Telomere Stress Induced Senescence
PI3K-Akt signaling pathway	TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
Cellular senescence	CDK-mediated phosphorylation and removal of Cdc6
Cushing syndrome	Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
Hepatitis B	Cyclin E associated events during G1/S transition
Measles	G1/S-Specific Transcription
Human papillomavirus infection	p53-Dependent G1 DNA Damage Response
Human T-cell leukemia virus 1 infection	PTK6 Regulates Cell Cycle
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Prostate cancer
Small cell lung cancer
Gastric cancer

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 (24)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BREAST CANCER	—	GWAS catalog	29058716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29058716, 32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	19385967, 23624423	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	12029619, 22634754	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	29058716, 32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT URINARY SYSTEM NEOPLASM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	19270706	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	21397856	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	32887889, 41266372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	29464035	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	20972438, 24163127, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	20972438, 27514407	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (158)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30965092		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14507635, 14581353, 24367507		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17360482		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	27767100		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25934694		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25934694		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	27165744	Associate	★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19454496		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33662100	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	27184124		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31344532		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26397135		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20972438, 25320178, 26057453, 26966728, 27514407, 31455378		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	20972438, 27514407		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12466974, 15665273, 16912169, 16929516, 18174243, 19242061, 19470724, 23185313, 23900351, 25159285, 25596745, 25732226, 25830480, 28618963, 30186493, 30884120, 30910306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19385967, 23624423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15606925, 18174243, 19242061, 19777567, 20473280, 20607601, 22433433, 22564522, 23139263, 23185313, 24194916, 25732226, 25830480, 28797035, 30358191, 30807234, 31078043, 33307492, 33313822, 35186236, 35383130, 36749874, 37303942, 37801505, 38625790	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	24098334, 24366882, 28760857, 36964635	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	26008974	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16753589, 22214847, 24309323, 26008974, 27351214, 27443516, 27767100		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19470724	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26647729	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23544130, 23867110, 28844099, 29487225, 31363003, 31375600, 33390802, 33557409, 35236936, 35694386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	27443516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20972438, 25320178, 26057453, 26966728, 27514407, 31455378		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19032793, 29228869, 33863809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28718916, 30675171, 31259714, 32986937	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29749538, 33833226	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	26647729		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18281541, 19193619, 20336784, 21103391, 23787073, 24004674, 24176298, 24366882, 25527175, 25892415, 27663592, 27898521, 29228869, 30209015, 30885433, 30910306, 31060523, 31657115		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	37651310, 38536067	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31746435		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	28760857	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	33290867, 33731859	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31344532		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25934694		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27527859	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15067335		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30224058		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19454496, 27399331		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	30281379	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26647729, 27582547		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24309323	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26647729, 27582547, 36964635, 38564163	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27767100, 30925413		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	30675171	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24176298, 25527175, 29228869, 30910306		★☆☆☆☆ Found in Text Mining only
Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	BEFREE	12833150		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	32032585	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24176298		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28520165		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20164239, 28628119, 31045274		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20164239, 22291905	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28628119, 31045274		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12778072		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23383003, 28460453, 29044221, 30273182		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30273182, 30548945	Associate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	38097740	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29426911	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	15060836		★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	36964635	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27767100	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37310408	Stimulate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	29844831		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12133429, 16538501		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	12029619, 22634754		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12601350		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16799991, 21831731, 24370822, 25399696, 27351279, 29339491, 29441724, 29551768, 30150405, 30773676, 30878468, 31349793, 31612313		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	37863651	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27351279, 30878468		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24671051	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25124555		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25124555	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31962276, 32338437, 35422093, 39905556	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23185313, 26647729	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31072916	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12466974, 15665273, 16912169, 16929516, 18174243, 19242061, 19470724, 22433433, 23139263, 23185313, 23900351, 25159285, 25596745, 25732226, 25830480, 28618963, 30186493, 30884120, 30910306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19385967, 23624423		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27582547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24972653, 30150405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18281541, 19193619, 20336784, 21103391, 23787073, 24004674, 24366882, 25892415, 27663592, 27898521, 30209015, 30885433, 31060523, 31286496, 31657115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30237511		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25047501, 29326043, 30349301, 31178228		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10980118, 20972438, 25320178, 26057453, 26966728, 27514407, 31455378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	20972438, 27514407		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10980118, 16808878, 19084516, 20737421, 23324395, 24004674, 24176298, 25934694, 27463019, 28980866, 30150405, 30273182, 30300578, 30665374, 31657115		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19385967, 23624423		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12096344, 12444551, 15665273, 16740753, 16761619, 16912169		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12466974		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19385967, 23624423		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19385967, 23624423		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36139498	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22558078, 30975979		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22558078, 30975979, 37012388	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23416081		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25337187, 35303867	Associate	★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	33662100	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14581353, 16572426, 16740753, 16808878, 17434927, 19787784, 20336784, 21179471, 21720365, 22094936, 22923510, 23378270, 24004674, 24041470, 24176298, 24218601, 24370822, 24449507, 25596745, 25934694, 27351214, 27444036, 28473531, 29063609, 29179444, 30186493, 30209015, 30311220, 30675171, 30878468, 31060523, 31072916, 31281471, 31329165, 31571090, 31818495		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22120721		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22120721, 35655142	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	19010853		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24367507, 26771237, 29570800		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28068868		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21458381, 22682620, 24449507, 29109143		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26510912, 32162720	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24366882, 25892415, 27898521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	27767100		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38097740	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18281541, 19193619, 20336784, 21103391, 23787073, 24004674, 27663592, 30209015, 30885433, 31060523, 31657115		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21397856		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19193619, 19258477, 20336784, 21103391, 22174824, 23517670, 23990444, 24366882, 26823747, 27443516, 27444036, 27663592, 27767100, 29724815, 31060523, 31657115, 31709901, 32044108, 32415712, 33290867, 33432021, 33731859, 34734085, 35444283, 35696721, 35732503, 36289203, 36572991, 36805789, 36964635	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32295618	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16124066		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24041470	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	15166955	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32868381	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	30281379	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30237511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30237511, 33522043, 35430569	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30224058		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	25408144	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21575235, 26191215, 27966488, 29024602, 29179444, 30191630, 30795624		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	26191215	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	12824885		★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	31571090		★☆☆☆☆ Found in Text Mining only
Senile angioma	Angioma	BEFREE	21179471		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	37863651	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35184425, 37062002	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	14719078		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15185338		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26670461		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39738469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29749538		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	29464035		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25047501, 29326043, 30349301, 31072916, 31178228		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16575401, 25372287, 27864121, 29884122, 31072916, 32461621, 33262572, 33511732, 37863651	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	29615459	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18701481		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18701481	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30621700, 30665374		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30621700, 30665374, 35091678	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33757543	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30237525		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18008359, 20972438, 25320178, 26057453, 26966728, 27514407, 29028944, 30279572, 35759030	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	24969694, 25408144		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33413211, 35126958	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	35444283	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SCG5 4 shared diseasesCancer, Medulloblastoma, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 4 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), CTD (Medulloblastoma), GWAS catalog (Ovarian serous carcinoma) Related via 4 shared diseases including Cancer, Medulloblastoma — evidence mostly GWAS catalog. LMTK2 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. PRKCI 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. MSMB 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. KLK2 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SCG5	4	["Cancer","Medulloblastoma","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	4	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","CTD (Medulloblastoma)","GWAS catalog (Ovarian serous carcinoma)"]
LMTK2	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
PRKCI	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
MSMB	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
KLK2	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]

Diseases Linked via Similar Genes

Prostatic neoplasms Linked via 3 of 5 related genesLMTK2, MSMB, KLK2 Colorectal adenoma Linked via 1 of 5 related genesSCG5 Colorectal neoplasms Linked via 1 of 5 related genesSCG5 Gout Linked via 1 of 5 related genesLMTK2 Neurotic disorder Linked via 1 of 5 related genesLMTK2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Prostatic neoplasms	3	["LMTK2","MSMB","KLK2"]
Colorectal adenoma	1	["SCG5"]
Colorectal neoplasms	1	["SCG5"]
Gout	1	["LMTK2"]
Neurotic disorder	1	["LMTK2"]