APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

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

Gene

• Entrez ID: 328
• Gene name: Apurinic/apyrimidinic endodeoxyribonuclease 1
• Gene symbol: APEX1
• Synonyms (NCBI Gene): APE, APE1, APEN, APEX, APX, HAP1, REF1
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA dama

miRNA Show/Hide all (201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050830	hsa-miR-17-5p	CLASH	23622248
MIRT048610	hsa-miR-99a-5p	CLASH	23622248
MIRT048405	hsa-miR-100-5p	CLASH	23622248
MIRT045386	hsa-miR-185-5p	CLASH	23622248
MIRT036701	hsa-miR-935	CLASH	23622248
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT481804	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT481799	hsa-miR-1197	PAR-CLIP	20371350
MIRT481796	hsa-miR-4678	PAR-CLIP	20371350
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT481774	hsa-miR-597-5p	PAR-CLIP	20371350
MIRT481770	hsa-miR-331-5p	PAR-CLIP	20371350
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT481804	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT481801	hsa-miR-3609	PAR-CLIP	23592263
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481799	hsa-miR-1197	PAR-CLIP	23592263
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT481797	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481796	hsa-miR-4678	PAR-CLIP	23592263
MIRT481795	hsa-miR-1245a	PAR-CLIP	23592263
MIRT481794	hsa-miR-8079	PAR-CLIP	23592263
MIRT481793	hsa-miR-8062	PAR-CLIP	23592263
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	23592263
MIRT481791	hsa-miR-3973	PAR-CLIP	23592263
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	23592263
MIRT481789	hsa-miR-520h	PAR-CLIP	23592263
MIRT481788	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT481787	hsa-miR-3155a	PAR-CLIP	23592263
MIRT481786	hsa-miR-3155b	PAR-CLIP	23592263
MIRT481785	hsa-miR-484	PAR-CLIP	23592263
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	23592263
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT481778	hsa-miR-4651	PAR-CLIP	23592263
MIRT481777	hsa-miR-608	PAR-CLIP	23592263
MIRT481776	hsa-miR-1293	PAR-CLIP	23592263
MIRT481775	hsa-miR-4483	PAR-CLIP	23592263
MIRT481774	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT481773	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT481772	hsa-miR-6789-5p	PAR-CLIP	23592263
MIRT481771	hsa-miR-4278	PAR-CLIP	23592263
MIRT481770	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481769	hsa-miR-7977	PAR-CLIP	23592263
MIRT481768	hsa-miR-2909	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT481802	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	26701625
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	26701625
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	26701625
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	26701625
MIRT481787	hsa-miR-3155a	PAR-CLIP	26701625
MIRT481787	hsa-miR-3155a	PAR-CLIP	26701625
MIRT481786	hsa-miR-3155b	PAR-CLIP	26701625
MIRT481786	hsa-miR-3155b	PAR-CLIP	26701625
MIRT481801	hsa-miR-3609	PAR-CLIP	26701625
MIRT481801	hsa-miR-3609	PAR-CLIP	26701625
MIRT481791	hsa-miR-3973	PAR-CLIP	26701625
MIRT481791	hsa-miR-3973	PAR-CLIP	26701625
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	26701625
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	26701625
MIRT481785	hsa-miR-484	PAR-CLIP	26701625
MIRT481785	hsa-miR-484	PAR-CLIP	26701625
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	26701625
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	26701625
MIRT481789	hsa-miR-520h	PAR-CLIP	26701625
MIRT481789	hsa-miR-520h	PAR-CLIP	26701625
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	26701625
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	26701625
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	26701625
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	26701625
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT481769	hsa-miR-7977	PAR-CLIP	26701625
MIRT481769	hsa-miR-7977	PAR-CLIP	26701625
MIRT481776	hsa-miR-1293	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization	32320642
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	20371350
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	20371350
MIRT481804	hsa-miR-128-3p	PAR-CLIP	20371350
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	20371350
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	20371350
MIRT481799	hsa-miR-1197	PAR-CLIP	20371350
MIRT481796	hsa-miR-4678	PAR-CLIP	20371350
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT481774	hsa-miR-597-5p	PAR-CLIP	20371350
MIRT481770	hsa-miR-331-5p	PAR-CLIP	20371350
MIRT481806	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT481805	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT481804	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT481803	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT481802	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT481801	hsa-miR-3609	PAR-CLIP	23592263
MIRT481800	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT481799	hsa-miR-1197	PAR-CLIP	23592263
MIRT481798	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT481797	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481796	hsa-miR-4678	PAR-CLIP	23592263
MIRT481795	hsa-miR-1245a	PAR-CLIP	23592263
MIRT481794	hsa-miR-8079	PAR-CLIP	23592263
MIRT481793	hsa-miR-8062	PAR-CLIP	23592263
MIRT481792	hsa-miR-135a-3p	PAR-CLIP	23592263
MIRT481791	hsa-miR-3973	PAR-CLIP	23592263
MIRT481790	hsa-miR-520g-3p	PAR-CLIP	23592263
MIRT481789	hsa-miR-520h	PAR-CLIP	23592263
MIRT481788	hsa-miR-6890-3p	PAR-CLIP	23592263
MIRT481787	hsa-miR-3155a	PAR-CLIP	23592263
MIRT481786	hsa-miR-3155b	PAR-CLIP	23592263
MIRT481785	hsa-miR-484	PAR-CLIP	23592263
MIRT481784	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT481783	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT481782	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT481781	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT341107	hsa-miR-27a-5p	PAR-CLIP	23592263
MIRT481780	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT481779	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT481778	hsa-miR-4651	PAR-CLIP	23592263
MIRT481777	hsa-miR-608	PAR-CLIP	23592263
MIRT481776	hsa-miR-1293	PAR-CLIP	23592263
MIRT481775	hsa-miR-4483	PAR-CLIP	23592263
MIRT481774	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT481773	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT481772	hsa-miR-6789-5p	PAR-CLIP	23592263
MIRT481771	hsa-miR-4278	PAR-CLIP	23592263
MIRT481770	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481769	hsa-miR-7977	PAR-CLIP	23592263
MIRT481768	hsa-miR-2909	PAR-CLIP	23592263
MIRT789085	hsa-miR-1252	CLIP-seq
MIRT789086	hsa-miR-186	CLIP-seq
MIRT789087	hsa-miR-1915	CLIP-seq
MIRT789088	hsa-miR-3133	CLIP-seq
MIRT789089	hsa-miR-3155	CLIP-seq
MIRT789090	hsa-miR-3184	CLIP-seq
MIRT789091	hsa-miR-3613-3p	CLIP-seq
MIRT789092	hsa-miR-3659	CLIP-seq
MIRT789093	hsa-miR-3671	CLIP-seq
MIRT789094	hsa-miR-3921	CLIP-seq
MIRT789095	hsa-miR-4653-5p	CLIP-seq
MIRT789096	hsa-miR-4703-3p	CLIP-seq
MIRT789097	hsa-miR-4709-3p	CLIP-seq
MIRT789098	hsa-miR-4790-3p	CLIP-seq
MIRT789099	hsa-miR-520g	CLIP-seq
MIRT789100	hsa-miR-548ac	CLIP-seq
MIRT789101	hsa-miR-548c-3p	CLIP-seq
MIRT789102	hsa-miR-548d-3p	CLIP-seq
MIRT789103	hsa-miR-548z	CLIP-seq
MIRT789091	hsa-miR-3613-3p	CLIP-seq
MIRT789093	hsa-miR-3671	CLIP-seq
MIRT789104	hsa-miR-4443	CLIP-seq
MIRT789105	hsa-miR-513a-5p	CLIP-seq
MIRT789100	hsa-miR-548ac	CLIP-seq
MIRT789102	hsa-miR-548d-3p	CLIP-seq
MIRT789103	hsa-miR-548z	CLIP-seq
MIRT789106	hsa-miR-765	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT1932776	hsa-miR-384	CLIP-seq
MIRT789104	hsa-miR-4443	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT789105	hsa-miR-513a-5p	CLIP-seq
MIRT789106	hsa-miR-765	CLIP-seq
MIRT2476159	hsa-miR-1244	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT2476160	hsa-miR-135a	CLIP-seq
MIRT2476161	hsa-miR-135b	CLIP-seq
MIRT2476162	hsa-miR-3607-5p	CLIP-seq
MIRT2476163	hsa-miR-3691-5p	CLIP-seq
MIRT2476164	hsa-miR-375	CLIP-seq
MIRT2476165	hsa-miR-4491	CLIP-seq
MIRT2476166	hsa-miR-4657	CLIP-seq
MIRT2476167	hsa-miR-4738-3p	CLIP-seq
MIRT2476168	hsa-miR-4752	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT2476169	hsa-miR-760	CLIP-seq
MIRT2476159	hsa-miR-1244	CLIP-seq
MIRT1932775	hsa-miR-1261	CLIP-seq
MIRT2476160	hsa-miR-135a	CLIP-seq
MIRT2476161	hsa-miR-135b	CLIP-seq
MIRT2476162	hsa-miR-3607-5p	CLIP-seq
MIRT2476163	hsa-miR-3691-5p	CLIP-seq
MIRT2476164	hsa-miR-375	CLIP-seq
MIRT2476165	hsa-miR-4491	CLIP-seq
MIRT2476166	hsa-miR-4657	CLIP-seq
MIRT2476167	hsa-miR-4738-3p	CLIP-seq
MIRT2476168	hsa-miR-4752	CLIP-seq
MIRT1932777	hsa-miR-4760-3p	CLIP-seq
MIRT2476169	hsa-miR-760	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	19524065
SP1	Repression	18208837
SP1	Unknown	7534297
USF1	Unknown	7534297

Gene ontology (GO) Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IDA	24703901
GO:0000781	Component	Chromosome, telomeric region	IC	24703901
GO:0003677	Function	DNA binding	IDA	11286553
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IDA	12524539, 14706345, 24703901
GO:0003691	Function	Double-stranded telomeric DNA binding	IDA	24703901
GO:0003713	Function	Transcription coactivator activity	IDA	9119221, 18809583
GO:0003714	Function	Transcription corepressor activity	TAS	7961715
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	8932386, 15707971, 18973764, 19188445, 24703901
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS	9119221
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IDA	11478795
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	TAS	1722334
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	TAS	11286553
GO:0004527	Function	Exonuclease activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	TAS	9119221
GO:0004844	Function	Uracil DNA N-glycosylase activity	TAS
GO:0005515	Function	Protein binding	IPI	8621488, 9108029, 9207062, 11118054, 11809897, 12524539, 15518571, 15942031, 18809583, 19188445, 19465398, 19505873, 19934257, 20231292, 20696907, 20808282, 20856196, 26760506, 28514442, 32911434, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9119221, 15942031, 19934257, 28404743
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17148573
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	17148573, 19188445
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	9560228
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20231292
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	12524539
GO:0005813	Component	Centrosome	IDA
GO:0005840	Component	Ribosome	TAS	12524539
GO:0006281	Process	DNA repair	IDA	1627644, 9560228
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IDA	8932386
GO:0006287	Process	Base-excision repair, gap-filling	TAS
GO:0006308	Process	DNA catabolic process	IDA	1627644
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IBA
GO:0008081	Function	Phosphoric diester hydrolase activity	IDA	11478795, 18973764
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	1627644
GO:0008309	Function	Double-stranded DNA exodeoxyribonuclease activity	IDA	24703901
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IDA	11832948
GO:0008408	Function	3'-5' exonuclease activity	TAS	11286553
GO:0016491	Function	Oxidoreductase activity	IDA	9119221, 12524539
GO:0016607	Component	Nuclear speck	IDA	17148573
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	11809897
GO:0033892	Function	Deoxyribonuclease (pyrimidine dimer) activity	IDA	19188445, 24703901
GO:0042981	Process	Regulation of apoptotic process	IDA	19934257
GO:0043488	Process	Regulation of mRNA stability	IMP	19401441
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IDA	21496894
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18809583
GO:0046872	Function	Metal ion binding	IDA	11286553
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12524539
GO:0052720	Function	Class II DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	1627644, 9804798, 11160897, 11286553
GO:0090580	Function	Phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands	IDA	1627644
GO:0097698	Process	Telomere maintenance via base-excision repair	IDA	24703901
GO:0140431	Function	DNA-(abasic site) binding	IMP	9804798

Other IDs

• MIM: 107748
• HGNC: 587
• e!Ensembl: ENSG00000100823

Protein

• UniProt ID: P27695
• Protein name: DNA repair nuclease/redox regulator APEX1 (EC 3.1.11.2) (EC 3.1.21.-) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (DNA-(apurinic or apyrimidinic site) endonuclease) (Redox factor-1) (REF-1) [Cleaved into: DNA
• Protein function: Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors (PubMed:11118054, PubMed:11452037, PubMed:15831793,
• PDB: 1BIX , 1CQG , 1CQH , 1DE8 , 1DE9 , 1DEW , 1E9N , 1HD7 , 2ISI , 2O3H , 3U8U , 4IEM , 4LND , 4QH9 , 4QHD , 4QHE , 5CFG , 5DFF , 5DFH , 5DFI , 5DFJ , 5DG0 , 5WN0 , 5WN1 , 5WN2 , 5WN3 , 5WN4 , 5WN5 , 6BOQ , 6BOR , 6BOS , 6BOT , 6BOU , 6BOV , 6BOW , 6MK3 , 6MKK , 6MKM , 6MKO , 6P93 , 6P94 , 6W0Q , 6W2P , 6W3L , 6W3N , 6W3Q , 6W3U , 6W43 , 6W4I , 6W4T , 7LPG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03372	Exo_endo_phos	65 → 309	Endonuclease/Exonuclease/phosphatase family	Domain

• Sequence:

  MPKRGKKGAVAEDGDELRTEPEAKKSKTAAKKNDKEAAGEGPALYEDPPDQKTSPSGKPA
  TLKICSWNVDGLRAWIKKKGLDWVKEEAPDILCLQETKCSENKLPAELQELPGLSHQYWS
  APSDKEGYSGVGLLSRQCPLKVSYGIGDEEHDQEGRVIVAEFDSFVLVTAYVPNAGRGLV
  RLEYRQRWDEAFRKFLKGLASRKPLVLCGDLNVAHEEIDLRNPKGNKKNAGFTPQERQGF
  GELLQAVPLADSFRHLYPNTPYAYTFWTYMMNARSKNVGWRLDYFLLSHSLLPALCDSKI
  RSKALGSDHCPITLYLAL

• Sequence length: 318

Pathways

KEGG Pathway	Reactome Pathway
Base excision repair	Displacement of DNA glycosylase by APEX1
	POLB-Dependent Long Patch Base Excision Repair
	Resolution of AP sites via the multiple-nucleotide patch replacement pathway
	PCNA-Dependent Long Patch Base Excision Repair
	Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
	Resolution of Abasic Sites (AP sites)

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 (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, GenCC Disgenet, GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APEX1-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	11447995	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	25109342	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	24036326	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and neck cancer	not provided	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	22262564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	16373707	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	16406883, 29541389	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	20446108	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE PRE-ECLAMPSIA, UNSPECIFIED AS TO EPISODE OF CARE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	21364753	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (300)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18466396		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19414392, 21198260, 28523411		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21722819, 23065211, 23509821, 23951099, 30382076		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18466396, 19864471, 20534734		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23951112		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28501783, 30538199		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29750271		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	11846302		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	LHGDN	11846302		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ABAT 2 shared diseasesSeizures, Genetic predisposition to disease 2 shared evidence sourcesCTD (Genetic predisposition to disease), CTD (Seizures) Related via 2 shared diseases including Seizures, Genetic predisposition to disease — evidence mostly CTD. MT2A 2 shared diseasesGenetic predisposition to disease, Heart disease 3 shared evidence sourcesCTD (Genetic predisposition to disease), Disgenet (Heart disease), CTD (Heart disease) Related via 2 shared diseases including Genetic predisposition to disease, Heart disease — evidence mostly CTD. OGG1 2 shared diseasesGenetic predisposition to disease, Heart disease 2 shared pathwaysBase excision repair, Displacement of DNA glycosylase by APEX1 3 shared evidence sourcesCTD (Genetic predisposition to disease), Disgenet (Heart disease), CTD (Heart disease) Related via 2 shared diseases including Genetic predisposition to disease, Heart disease — evidence mostly CTD. POLB 5 shared pathwaysBase excision repair, POLB-Dependent Long Patch Base Excision Repair, PCNA-Dependent Long Patch Base Excision Repair, Resolution of AP sites via the multiple-nucleotide patch replacement pathway, Abasic sugar-phosphate removal via the single-nucleotide replacement pathway Related via 5 shared pathways including Base excision repair, POLB-Dependent Long Patch Base Excision Repair. ALAD 2 shared diseasesSeizures, Genetic predisposition to disease 2 shared evidence sourcesCTD (Genetic predisposition to disease), CTD (Seizures) Related via 2 shared diseases including Seizures, Genetic predisposition to disease — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ABAT	2	["Seizures","Genetic predisposition to disease"]	0	[]	2	["CTD (Genetic predisposition to disease)","CTD (Seizures)"]
MT2A	2	["Genetic predisposition to disease","Heart disease"]	0	[]	3	["CTD (Genetic predisposition to disease)","Disgenet (Heart disease)","CTD (Heart disease)"]
OGG1	2	["Genetic predisposition to disease","Heart disease"]	2	["Base excision repair","Displacement of DNA glycosylase by APEX1"]	3	["CTD (Genetic predisposition to disease)","Disgenet (Heart disease)","CTD (Heart disease)"]
POLB	0	[]	5	["Base excision repair","POLB-Dependent Long Patch Base Excision Repair","PCNA-Dependent Long Patch Base Excision Repair","Resolution of AP sites via the multiple-nucleotide patch replacement pathway","Abasic sugar-phosphate removal via the single-nucleotide replacement pathway"]	0	[]
ALAD	2	["Seizures","Genetic predisposition to disease"]	0	[]	2	["CTD (Genetic predisposition to disease)","CTD (Seizures)"]

Diseases Linked via Similar Genes

Autism Linked via 2 of 5 related genesABAT, ALAD Huntington disease Linked via 2 of 5 related genesABAT, OGG1 Diabetes mellitus type 2 Linked via 2 of 5 related genesMT2A, OGG1 Pulmonary fibrosis Linked via 2 of 5 related genesMT2A, OGG1 Urinary bladder neoplasms Linked via 2 of 5 related genesMT2A, POLB

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	2	["ABAT","ALAD"]
Huntington disease	2	["ABAT","OGG1"]
Diabetes mellitus type 2	2	["MT2A","OGG1"]
Pulmonary fibrosis	2	["MT2A","OGG1"]
Urinary bladder neoplasms	2	["MT2A","POLB"]