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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1894
Gene name	Epithelial cell transforming 2
Gene symbol	ECT2
Synonyms (NCBI Gene)	ARHGEF31
Chromosome	3
Chromosome location	3q26.31
Summary	The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016363	hsa-miR-193b-3p	Microarray	20304954
MIRT021839	hsa-miR-132-3p	Microarray	17612493
MIRT024659	hsa-miR-215-5p	Microarray	19074876
MIRT026504	hsa-miR-192-5p	Microarray	19074876
MIRT027900	hsa-miR-96-5p	Sequencing	20371350
MIRT028718	hsa-miR-27a-3p	Sequencing	20371350
MIRT029452	hsa-miR-26b-5p	Microarray	19088304
MIRT047830	hsa-miR-30c-5p	CLASH	23622248
MIRT053107	hsa-miR-223-3p	Luciferase reporter assayWestern blot	23601845
MIRT053107	hsa-miR-223-3p	Luciferase reporter assayWestern blot	23601845
MIRT494004	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT494003	hsa-miR-4255	PAR-CLIP	23592263
MIRT494002	hsa-miR-141-5p	PAR-CLIP	23592263
MIRT494001	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT735413	hsa-miR-194-5p	Luciferase reporter assayqRT-PCRFlow cytometry	31960990
MIRT494004	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT494003	hsa-miR-4255	PAR-CLIP	23592263
MIRT494002	hsa-miR-141-5p	PAR-CLIP	23592263
MIRT494001	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT951815	hsa-miR-1272	CLIP-seq
MIRT951816	hsa-miR-1284	CLIP-seq
MIRT951817	hsa-miR-1305	CLIP-seq
MIRT951818	hsa-miR-1322	CLIP-seq
MIRT951819	hsa-miR-194	CLIP-seq
MIRT951820	hsa-miR-216a	CLIP-seq
MIRT951821	hsa-miR-216b	CLIP-seq
MIRT951822	hsa-miR-223	CLIP-seq
MIRT951823	hsa-miR-224	CLIP-seq
MIRT951824	hsa-miR-2964a-5p	CLIP-seq
MIRT951825	hsa-miR-302f	CLIP-seq
MIRT951826	hsa-miR-3120-3p	CLIP-seq
MIRT951827	hsa-miR-3140-3p	CLIP-seq
MIRT951828	hsa-miR-34b	CLIP-seq
MIRT951829	hsa-miR-34c-3p	CLIP-seq
MIRT951830	hsa-miR-3646	CLIP-seq
MIRT951831	hsa-miR-3647-3p	CLIP-seq
MIRT951832	hsa-miR-3658	CLIP-seq
MIRT951833	hsa-miR-3662	CLIP-seq
MIRT951834	hsa-miR-3671	CLIP-seq
MIRT951835	hsa-miR-374c	CLIP-seq
MIRT951836	hsa-miR-4328	CLIP-seq
MIRT951837	hsa-miR-4330	CLIP-seq
MIRT951838	hsa-miR-4666-3p	CLIP-seq
MIRT951839	hsa-miR-4666-5p	CLIP-seq
MIRT951840	hsa-miR-4698	CLIP-seq
MIRT951841	hsa-miR-4729	CLIP-seq
MIRT951842	hsa-miR-4795-5p	CLIP-seq
MIRT951843	hsa-miR-4796-5p	CLIP-seq
MIRT951844	hsa-miR-4802-3p	CLIP-seq
MIRT951845	hsa-miR-496	CLIP-seq
MIRT951846	hsa-miR-498	CLIP-seq
MIRT951847	hsa-miR-499-3p	CLIP-seq
MIRT951848	hsa-miR-499a-3p	CLIP-seq
MIRT951849	hsa-miR-545	CLIP-seq
MIRT951850	hsa-miR-548c-3p	CLIP-seq
MIRT951851	hsa-miR-548p	CLIP-seq
MIRT951852	hsa-miR-550b	CLIP-seq
MIRT951853	hsa-miR-570	CLIP-seq
MIRT951854	hsa-miR-590-3p	CLIP-seq
MIRT951855	hsa-miR-616	CLIP-seq
MIRT951856	hsa-miR-655	CLIP-seq
MIRT951857	hsa-miR-935	CLIP-seq
MIRT1981859	hsa-miR-1271	CLIP-seq
MIRT951815	hsa-miR-1272	CLIP-seq
MIRT1981860	hsa-miR-1283	CLIP-seq
MIRT951816	hsa-miR-1284	CLIP-seq
MIRT1981861	hsa-miR-1298	CLIP-seq
MIRT951818	hsa-miR-1322	CLIP-seq
MIRT1981862	hsa-miR-182	CLIP-seq
MIRT951820	hsa-miR-216a	CLIP-seq
MIRT951821	hsa-miR-216b	CLIP-seq
MIRT951822	hsa-miR-223	CLIP-seq
MIRT951823	hsa-miR-224	CLIP-seq
MIRT1981863	hsa-miR-27a	CLIP-seq
MIRT1981864	hsa-miR-27b	CLIP-seq
MIRT951824	hsa-miR-2964a-5p	CLIP-seq
MIRT1981865	hsa-miR-3160-3p	CLIP-seq
MIRT1981866	hsa-miR-3163	CLIP-seq
MIRT951828	hsa-miR-34b	CLIP-seq
MIRT951829	hsa-miR-34c-3p	CLIP-seq
MIRT951833	hsa-miR-3662	CLIP-seq
MIRT1981867	hsa-miR-4282	CLIP-seq
MIRT951836	hsa-miR-4328	CLIP-seq
MIRT1981868	hsa-miR-4487	CLIP-seq
MIRT951838	hsa-miR-4666-3p	CLIP-seq
MIRT951840	hsa-miR-4698	CLIP-seq
MIRT1981869	hsa-miR-4699-3p	CLIP-seq
MIRT1981870	hsa-miR-4712-5p	CLIP-seq
MIRT1981871	hsa-miR-4719	CLIP-seq
MIRT951841	hsa-miR-4729	CLIP-seq
MIRT1981872	hsa-miR-4760-3p	CLIP-seq
MIRT951843	hsa-miR-4796-5p	CLIP-seq
MIRT951845	hsa-miR-496	CLIP-seq
MIRT951847	hsa-miR-499-3p	CLIP-seq
MIRT951848	hsa-miR-499a-3p	CLIP-seq
MIRT1981873	hsa-miR-513a-5p	CLIP-seq
MIRT1981874	hsa-miR-558	CLIP-seq
MIRT951855	hsa-miR-616	CLIP-seq
MIRT1981875	hsa-miR-664	CLIP-seq
MIRT1981876	hsa-miR-770-5p	CLIP-seq
MIRT1981877	hsa-miR-96	CLIP-seq
MIRT1981859	hsa-miR-1271	CLIP-seq
MIRT951815	hsa-miR-1272	CLIP-seq
MIRT1981860	hsa-miR-1283	CLIP-seq
MIRT951816	hsa-miR-1284	CLIP-seq
MIRT951817	hsa-miR-1305	CLIP-seq
MIRT2216750	hsa-miR-132	CLIP-seq
MIRT951818	hsa-miR-1322	CLIP-seq
MIRT2216751	hsa-miR-140-3p	CLIP-seq
MIRT1981862	hsa-miR-182	CLIP-seq
MIRT2216752	hsa-miR-205	CLIP-seq
MIRT2216753	hsa-miR-212	CLIP-seq
MIRT951820	hsa-miR-216a	CLIP-seq
MIRT951821	hsa-miR-216b	CLIP-seq
MIRT951822	hsa-miR-223	CLIP-seq
MIRT951823	hsa-miR-224	CLIP-seq
MIRT1981863	hsa-miR-27a	CLIP-seq
MIRT1981864	hsa-miR-27b	CLIP-seq
MIRT2216754	hsa-miR-296-3p	CLIP-seq
MIRT951824	hsa-miR-2964a-5p	CLIP-seq
MIRT2216755	hsa-miR-3074-3p	CLIP-seq
MIRT951826	hsa-miR-3120-3p	CLIP-seq
MIRT2216756	hsa-miR-3121-3p	CLIP-seq
MIRT1981865	hsa-miR-3160-3p	CLIP-seq
MIRT951828	hsa-miR-34b	CLIP-seq
MIRT951829	hsa-miR-34c-3p	CLIP-seq
MIRT2216757	hsa-miR-3607-5p	CLIP-seq
MIRT2216758	hsa-miR-362-5p	CLIP-seq
MIRT951830	hsa-miR-3646	CLIP-seq
MIRT2216759	hsa-miR-4301	CLIP-seq
MIRT951836	hsa-miR-4328	CLIP-seq
MIRT2216760	hsa-miR-433	CLIP-seq
MIRT951837	hsa-miR-4330	CLIP-seq
MIRT2216761	hsa-miR-4446-5p	CLIP-seq
MIRT1981868	hsa-miR-4487	CLIP-seq
MIRT951839	hsa-miR-4666-5p	CLIP-seq
MIRT2216762	hsa-miR-4684-3p	CLIP-seq
MIRT951840	hsa-miR-4698	CLIP-seq
MIRT1981869	hsa-miR-4699-3p	CLIP-seq
MIRT2216763	hsa-miR-4699-5p	CLIP-seq
MIRT1981870	hsa-miR-4712-5p	CLIP-seq
MIRT1981871	hsa-miR-4719	CLIP-seq
MIRT951841	hsa-miR-4729	CLIP-seq
MIRT951842	hsa-miR-4795-5p	CLIP-seq
MIRT951843	hsa-miR-4796-5p	CLIP-seq
MIRT951844	hsa-miR-4802-3p	CLIP-seq
MIRT2216764	hsa-miR-494	CLIP-seq
MIRT951845	hsa-miR-496	CLIP-seq
MIRT951847	hsa-miR-499-3p	CLIP-seq
MIRT951848	hsa-miR-499a-3p	CLIP-seq
MIRT2216765	hsa-miR-500b	CLIP-seq
MIRT2216766	hsa-miR-501-5p	CLIP-seq
MIRT1981873	hsa-miR-513a-5p	CLIP-seq
MIRT2216767	hsa-miR-518a-5p	CLIP-seq
MIRT2216768	hsa-miR-527	CLIP-seq
MIRT951849	hsa-miR-545	CLIP-seq
MIRT2216769	hsa-miR-548a-3p	CLIP-seq
MIRT2216770	hsa-miR-548e	CLIP-seq
MIRT2216771	hsa-miR-548f	CLIP-seq
MIRT1981874	hsa-miR-558	CLIP-seq
MIRT951853	hsa-miR-570	CLIP-seq
MIRT2216772	hsa-miR-577	CLIP-seq
MIRT951854	hsa-miR-590-3p	CLIP-seq
MIRT951855	hsa-miR-616	CLIP-seq
MIRT1981876	hsa-miR-770-5p	CLIP-seq
MIRT2216773	hsa-miR-889	CLIP-seq
MIRT2216774	hsa-miR-891b	CLIP-seq
MIRT951857	hsa-miR-935	CLIP-seq
MIRT2216775	hsa-miR-944	CLIP-seq
MIRT1981877	hsa-miR-96	CLIP-seq
MIRT951822	hsa-miR-223	CLIP-seq
MIRT951823	hsa-miR-224	CLIP-seq
MIRT951836	hsa-miR-4328	CLIP-seq
MIRT951815	hsa-miR-1272	CLIP-seq
MIRT1981860	hsa-miR-1283	CLIP-seq
MIRT2520748	hsa-miR-129-5p	CLIP-seq
MIRT951818	hsa-miR-1322	CLIP-seq
MIRT2520749	hsa-miR-186	CLIP-seq
MIRT2520750	hsa-miR-2053	CLIP-seq
MIRT951820	hsa-miR-216a	CLIP-seq
MIRT951821	hsa-miR-216b	CLIP-seq
MIRT951824	hsa-miR-2964a-5p	CLIP-seq
MIRT2520751	hsa-miR-300	CLIP-seq
MIRT2520752	hsa-miR-3133	CLIP-seq
MIRT1981865	hsa-miR-3160-3p	CLIP-seq
MIRT951828	hsa-miR-34b	CLIP-seq
MIRT951829	hsa-miR-34c-3p	CLIP-seq
MIRT2520753	hsa-miR-3616-3p	CLIP-seq
MIRT2520754	hsa-miR-3674	CLIP-seq
MIRT2520755	hsa-miR-381	CLIP-seq
MIRT2216759	hsa-miR-4301	CLIP-seq
MIRT1981868	hsa-miR-4487	CLIP-seq
MIRT2520756	hsa-miR-4496	CLIP-seq
MIRT2520757	hsa-miR-450b-5p	CLIP-seq
MIRT2520758	hsa-miR-4652-3p	CLIP-seq
MIRT951838	hsa-miR-4666-3p	CLIP-seq
MIRT951840	hsa-miR-4698	CLIP-seq
MIRT1981870	hsa-miR-4712-5p	CLIP-seq
MIRT2520759	hsa-miR-4721	CLIP-seq
MIRT951841	hsa-miR-4729	CLIP-seq
MIRT2520760	hsa-miR-4744	CLIP-seq
MIRT2520761	hsa-miR-4762-5p	CLIP-seq
MIRT2216764	hsa-miR-494	CLIP-seq
MIRT951847	hsa-miR-499-3p	CLIP-seq
MIRT951848	hsa-miR-499a-3p	CLIP-seq
MIRT2520762	hsa-miR-507	CLIP-seq
MIRT2520763	hsa-miR-513c	CLIP-seq
MIRT2520764	hsa-miR-514b-5p	CLIP-seq
MIRT2216767	hsa-miR-518a-5p	CLIP-seq
MIRT2216768	hsa-miR-527	CLIP-seq
MIRT951850	hsa-miR-548c-3p	CLIP-seq
MIRT2520765	hsa-miR-557	CLIP-seq
MIRT1981874	hsa-miR-558	CLIP-seq
MIRT2520766	hsa-miR-569	CLIP-seq
MIRT2216772	hsa-miR-577	CLIP-seq
MIRT2520767	hsa-miR-578	CLIP-seq
MIRT2520768	hsa-miR-586	CLIP-seq
MIRT951855	hsa-miR-616	CLIP-seq
MIRT1981876	hsa-miR-770-5p	CLIP-seq
MIRT1981860	hsa-miR-1283	CLIP-seq
MIRT2520748	hsa-miR-129-5p	CLIP-seq
MIRT951828	hsa-miR-34b	CLIP-seq
MIRT951829	hsa-miR-34c-3p	CLIP-seq
MIRT2520757	hsa-miR-450b-5p	CLIP-seq
MIRT951839	hsa-miR-4666-5p	CLIP-seq
MIRT951840	hsa-miR-4698	CLIP-seq
MIRT951841	hsa-miR-4729	CLIP-seq
MIRT2216764	hsa-miR-494	CLIP-seq
MIRT951847	hsa-miR-499-3p	CLIP-seq
MIRT951848	hsa-miR-499a-3p	CLIP-seq
MIRT2520762	hsa-miR-507	CLIP-seq
MIRT2216767	hsa-miR-518a-5p	CLIP-seq
MIRT2216768	hsa-miR-527	CLIP-seq
MIRT951850	hsa-miR-548c-3p	CLIP-seq
MIRT2520765	hsa-miR-557	CLIP-seq
MIRT2216772	hsa-miR-577	CLIP-seq
MIRT2520768	hsa-miR-586	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
CUX1	Unknown	21886810
E2F1	Unknown	21886810

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IMP	16236794
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	15254234, 15545273
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	15642749
GO:0005515	Function	Protein binding	IPI	15254234, 16103226, 16129829, 16236794, 16394104, 17115030, 17474147, 18201571, 18511905, 19129481, 19468300, 19468302, 19617897, 20348415, 22750944, 25068414
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15254234, 16103226, 19617897, 20047078
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	16394104, 19617897, 20047078
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IDA	15254234
GO:0005923	Component	Bicellular tight junction	IDA	15254234
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005938	Component	Cell cortex	IBA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IDA	15545273, 16103226, 16394104, 19468300, 20047078
GO:0030496	Component	Midbody	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0032147	Process	Activation of protein kinase activity	IDA	15254234
GO:0032154	Component	Cleavage furrow	IDA	16103226, 20047078
GO:0032154	Component	Cleavage furrow	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IDA	15545273
GO:0032467	Process	Positive regulation of cytokinesis	IMP	12761501, 15642749, 16103226, 17115030, 20047078
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	15545273
GO:0043065	Process	Positive regulation of apoptotic process	IDA	21373644
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043547	Process	Positive regulation of GTPase activity	IDA	17115030, 19617897, 20047078
GO:0043547	Process	Positive regulation of GTPase activity	IMP	21373644
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045859	Process	Regulation of protein kinase activity	IDA	15254234
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051260	Process	Protein homooligomerization	IDA	15545273
GO:0051301	Process	Cell division	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	15642749
GO:0070161	Component	Anchoring junction	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	21373644
GO:0070830	Process	Bicellular tight junction assembly	IMP	15254234
GO:0071277	Process	Cellular response to calcium ion	IDA	15254234
GO:0071479	Process	Cellular response to ionizing radiation	IDA	21373644
GO:0072686	Component	Mitotic spindle	IDA	15254234, 16103226, 16236794, 20047078
GO:0090630	Process	Activation of GTPase activity	IDA	19617897
GO:0090630	Process	Activation of GTPase activity	IMP	19617897
GO:0097149	Component	Centralspindlin complex	IDA	16236794
GO:1903438	Process	Positive regulation of mitotic cytokinetic process	IMP	16236794
GO:2000431	Process	Regulation of cytokinesis, actomyosin contractile ring assembly	IEA

MIM	HGNC	e!Ensembl
600586	3155	ENSG00000114346

Q9H8V3

Protein name

Protein ECT2 (Epithelial cell-transforming sequence 2 oncogene)

Protein function

Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways invo

PDB

3L46 , 4N40 , 6L30

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12738	PTCB-BRCT	179 → 242	twin BRCT domain	Family
PF00533	BRCT	266 → 341	BRCA1 C Terminus (BRCT) domain	Family
PF00621	RhoGEF	456 → 639	RhoGEF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung epithelial cells (at protein level). Expressed in squamous cell carcinoma, primary non-small cell lung cancer tumors and lung adenocarcinoma. {ECO:0000269|PubMed:19617897}.

Sequence

MAENSVLTSTTGRTSLADSSIFDSKVTEISKENLLIGSTSYVEEEMPQIETRVILVQEAG
KQEELIKALKTIKIMEVPVIKIKESCPGKSDEKLIKSVINMDIKVGFVKMESVEEFEGLD
SPEFENVFVVTDFQDSVFNDLYKADCRVIGPPVVLNCSQKGEPLPFSCRPLYCTSMMNLV
LCFTGFRKKEELVRLVTLVHHMGGVIRKDFNSKVTHLVANCTQGEKFRVAVSLGTPIMKP
EWIYKAWERRNEQDFYAAVDDFRNEFKVPPFQDCILSFLGFSDEEKTNMEEMTEMQGGKY
LPLGDERCTHLVVEENIVKDLPFEPSKKLYVVKQEWFWGSIQMDARAGETMYLYEKANTP
ELKKSVSMLSLNTPNSNRKRRRLKETLAQLSRETDVSPFPPRKRPSAEHSLSIGSLLDIS
NTPESSINYGDTPKSCTKSSKSSTPVPSKQSARWQVAKELYQTESNYVNILATIIQLFQV
PLEEEGQRGGPILAPEEIKTIFGSIPDIFDVHTKIKDDLEDLIVNWDESKSIGDIFLKYS
KDLVKTYPPFVNFFEMSKETIIKCEKQKPRFHAFLKINQAKPECGRQSLVELLIRPVQRL
PSVALLLNDLKKHTADENPDKSTLEKAIGSLKEVMTHINEDKRKTEAQKQIFDVVYEVDG
CPANLLSSHRSLVQRVETISLGEHPCDRGEQVTLFLFNDCLEIARKRHKVIGTFRSPHGQ
TRPPASLKHIHLMPLSQIKKVLDIRETEDCHNAFALLVRPPTEQANVLLSFQMTSDELPK
ENWLKMLCRHVANTICKADAENLIYTADPESFEVNTKDMDSTLSRASRAIKKTSKKVTRA
FSFSKTPKRALRRALMTSHGSVEGRSPSSNDKHVMSRLSSTSSLAGIPSPSLVSLPSFFE
RRSHTLSRSTTHLI

Sequence length

914

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

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 Unknown Diseases (3)

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.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (71)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	24484057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21474972, 24484057, 28110998, 29088286, 29672617, 30542068		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23851435, 26993610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	27106762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27106762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29304563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	24174471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29051317, 30278072, 30732163, 31571918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30732163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22412903, 25674238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31822116, 33157984, 33558466, 34746301, 36002253, 36553600, 39380994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28808310, 30278072, 30319288, 31145635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33501895	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33092599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29088286, 31968252, 32992230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28648284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21304002, 26211594, 28362321, 29109759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28362321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22805307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15761962, 34365093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	22552385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	22552385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19008376, 22571869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	19008376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32555332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19008376, 22571869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16247447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17016598, 22571869, 25237947, 30590814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25237947	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31145635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	30732163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31186795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28433800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21124766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25617497, 28648284, 30206962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24484057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28808310, 30278072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25674238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25237947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29051317, 30278072, 30732163, 31571918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28808310, 30278072, 30319288, 31145635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21124766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18842503, 26214778, 29631214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28012134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28654632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21304002, 24784921, 25237947, 28110998, 28794404, 31698961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21124766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17016598, 19617897, 24174471, 25617497, 28038473, 29051317, 30542068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19617897, 21189248, 30319288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28648284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30278072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23601845, 24784921, 28794404, 31322783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28794404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18842503, 26214778, 29631214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18842503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26214778, 33501895, 35722628, 37604837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33501895	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	30590814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28012134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31145635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21124766, 28038473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29088286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26808319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28654632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25674238, 28654632	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28654632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	24174471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30971775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	33790887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ECT2 (epithelial cell transforming 2)