POLE (DNA polymerase epsilon, catalytic subunit)

Gene

• Entrez ID: 5426
• Gene name: DNA polymerase epsilon, catalytic subunit
• Gene symbol: POLE
• Synonyms (NCBI Gene): CRCS12, FILS, IMAGEI, POLE1
• Chromosome: 12
• Chromosome location: 12q24.33
• Summary: This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5744739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs5744933	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant
rs5744948	T>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs36120395	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs61732929	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs113307290	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs113594027	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs113998091	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs114119067	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs115193764	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs115455318	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs115558715	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs116076060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs116742454	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137860861	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs138207610	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs139075637	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs139182500	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs139603739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs140566004	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs141619382	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs142373951	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs142508245	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143626223	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs146639652	G>A,C	Likely-benign, likely-pathogenic	Missense variant, genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146711942	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147354120	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147692158	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs147806951	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs148382941	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs149462407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151273553	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs200080353	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs200398117	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201115064	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs201273415	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs367970442	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs368662693	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371717068	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs372169366	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant, genic downstream transcript variant
rs372459649	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs372901803	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs373272795	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs373443211	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs375198950	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs375209004	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs376546593	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs398122515	T>C	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs483352909	G>A,C	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs531482240	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs536917758	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs540203276	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, synonymous variant
rs563990655	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs745601745	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs745838504	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs747692201	C>G	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs750255126	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, intron variant, genic downstream transcript variant
rs752682384	CA>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs758112633	A>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs761329565	C>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs761910924	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs762985435	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs763078534	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs767503360	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs769834031	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs770403791	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs770466844	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs772127913	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs772361606	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs774425403	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs774747998	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant, non coding transcript variant
rs775213170	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs780843358	T>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869312803	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs991583405	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519943	G>C,T	Uncertain-significance, drug-response, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519944	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519945	C>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1057521516	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, upstream transcript variant, genic upstream transcript variant
rs1060500826	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1064794932	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs1174721130	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs1196356920	G>C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1203095918	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1260912213	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs1555221512	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs1555222342	C>-	Pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555223949	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs1555225958	C>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1555229108	A>C	Drug-response	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555301070	T>-	Likely-pathogenic, uncertain-significance	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1593722216	GATCCTGAAAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant
rs1593733806	TG>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016490	hsa-miR-193b-3p	Microarray	20304954
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048792	hsa-miR-93-5p	CLASH	23622248
MIRT046796	hsa-miR-222-3p	CLASH	23622248
MIRT043193	hsa-miR-324-5p	CLASH	23622248
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247440	hsa-miR-1224-3p	CLIP-seq
MIRT1247441	hsa-miR-1252	CLIP-seq
MIRT1247442	hsa-miR-1260	CLIP-seq
MIRT1247443	hsa-miR-1260b	CLIP-seq
MIRT1247444	hsa-miR-1280	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247446	hsa-miR-147	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247453	hsa-miR-3125	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT1247455	hsa-miR-3545-5p	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247457	hsa-miR-3689d	CLIP-seq
MIRT1247458	hsa-miR-3911	CLIP-seq
MIRT1247459	hsa-miR-3916	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247463	hsa-miR-4280	CLIP-seq
MIRT1247464	hsa-miR-4305	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247467	hsa-miR-4433	CLIP-seq
MIRT1247468	hsa-miR-4446-3p	CLIP-seq
MIRT1247469	hsa-miR-4459	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247473	hsa-miR-4642	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT1247476	hsa-miR-4695-5p	CLIP-seq
MIRT1247477	hsa-miR-4697-3p	CLIP-seq
MIRT1247478	hsa-miR-4711-5p	CLIP-seq
MIRT1247479	hsa-miR-4733-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247484	hsa-miR-4768-3p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247488	hsa-miR-520g	CLIP-seq
MIRT1247489	hsa-miR-520h	CLIP-seq
MIRT1247490	hsa-miR-532-3p	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247492	hsa-miR-548ac	CLIP-seq
MIRT1247493	hsa-miR-548ae	CLIP-seq
MIRT1247494	hsa-miR-548aj	CLIP-seq
MIRT1247495	hsa-miR-548am	CLIP-seq
MIRT1247496	hsa-miR-548d-3p	CLIP-seq
MIRT1247497	hsa-miR-548x	CLIP-seq
MIRT1247498	hsa-miR-548z	CLIP-seq
MIRT1247499	hsa-miR-642a	CLIP-seq
MIRT1247500	hsa-miR-644	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247504	hsa-miR-877	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247506	hsa-miR-941	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT2300205	hsa-miR-1294	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT2300206	hsa-miR-3918	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT2300207	hsa-miR-4685-5p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	16762037
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	1730053
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8486689
GO:0003682	Function	Chromatin binding	IDA	16762037
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	16762037
GO:0005515	Function	Protein binding	IPI	10801849, 28514442, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	16762037
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	16762037
GO:0006260	Process	DNA replication	TAS	8486689
GO:0006261	Process	DNA-templated DNA replication	IDA	33051204
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006272	Process	Leading strand elongation	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IBA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	10559260
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IMP	20227374
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IDA	10801849, 22465957
GO:0008622	Component	Epsilon DNA polymerase complex	IEA
GO:0008622	Component	Epsilon DNA polymerase complex	IPI	10801849
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0045004	Process	DNA replication proofreading	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0071897	Process	DNA biosynthetic process	IEA

Other IDs

• MIM: 174762
• HGNC: 9177
• e!Ensembl: ENSG00000177084

Protein

• UniProt ID: Q07864
• Protein name: DNA polymerase epsilon catalytic subunit A (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (DNA polymerase II subunit A)
• Protein function: Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication
• PDB: 5VBN, 7PFO, 7PLO, 9B8S, 9B8T, 9F6D, 9F6E, 9F6F, 9F6I, 9F6J, 9F6K, 9F6L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03104	DNA_pol_B_exo1	86 → 427	DNA polymerase family B, exonuclease domain	Family
  PF00136	DNA_pol_B	620 → 1147	DNA polymerase family B	Family
  PF08490	DUF1744	1536 → 1925	Domain of unknown function (DUF1744)	Domain

• Sequence:

  MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKT
  GWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFL
  SKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQ
  DHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYDVPYHIRLSIDLKIHV
  AHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI
  DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMV
  TYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG
  SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFA
  LCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYV
  GGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC
  DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPG
  ANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEK
  RRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKGLHKVWKKKLS
  AAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA
  NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM
  VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFN
  EDGSLAELKGFEVKRRGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSK
  AANMPDSELFELISENRSMSRKLEDYGEQKSTSISTAKRLAEFLGDQMVKDAGLSCRYII
  SRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIRAILDWDYYIERLGSA
  IQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA
  SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA
  LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLR
  RTARSILDLPWQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGAS
  YRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVH
  LGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF
  GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETD
  LKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYG
  VLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH
  NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTIL
  QSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV
  GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLG
  SSVIYANFNRIILCTKKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPS
  NYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERDGEEEEEAEESNVEDLLENNW
  NILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGASQLSQEAEGA
  VGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP
  ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRS
  CNFCRDLDLCKDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLV
  CLKCRGVKETSMPVYCSCAGDFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQK
  NPQLGH

• Sequence length: 2286

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair

Reactome:

Recognition of DNA damage by PCNA-containing replication complex
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
DNA replication initiation
Activation of the pre-replicative complex

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Carcinoma of colon	Likely pathogenic	rs2043088809	RCV001356432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs2042774602	RCV001293842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer, susceptibility to, 12	Likely pathogenic; Pathogenic	rs1060500806, rs775867835, rs2542157997, rs2542096701, rs2135949218, rs138748289, rs1057517634, rs1057519256, rs483352909, rs1555300846, rs1565986506, rs761329565	RCV002602818 RCV002615090 RCV002741216 RCV003333822 RCV003448499 RCV005409940 RCV000409576 RCV000415655 RCV000033144 RCV000662518 RCV000690905 RCV000767390	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal carcinoma	Likely pathogenic	rs1565973210	RCV005414271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic fibrosis-gastritis-megaloblastic anemia syndrome	Pathogenic	rs483352909	RCV001420787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Pathogenic; Likely pathogenic	rs2136051965, rs2138692842, rs1060500808, rs483352909, rs780843358	RCV003222368 RCV002250945 RCV001535434 RCV000762892 RCV000659251	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial colorectal cancer	Likely pathogenic	rs1060500808	RCV001535434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial colorectal cancer type X	Pathogenic	rs483352909	RCV005357246	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs483352909, rs762985435, rs2042021811	RCV000570294 RCV005463119 RCV005463285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Likely pathogenic; Pathogenic	rs2138431829, rs2041825246, rs762985435	RCV002221859 RCV002471307 RCV000757960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoepithelial tumor	Pathogenic	rs2542066600	RCV002463907	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs483352909	RCV005229841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs867360056	RCV005934674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLE-related disorder	Likely pathogenic; Pathogenic	rs2542009211, rs2541903490, rs762985435	RCV004536660 RCV004536902 RCV002286421	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLE-related polyposis and colorectal cancer syndrome	Likely pathogenic; Pathogenic	rs762985435	RCV005367533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymerase proofreading-related adenomatous polyposis	Pathogenic	rs483352909	RCV005357246	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenocarcinoma of the large intestine	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer susceptibility 12	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, susceptibility to, 10	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioid adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, SHORT STATURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial ovarian cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal polyposis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance; Conflicting classifications of pathogenicity; 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	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MISMATCH REPAIR CANCER SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroepithelial neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric high-grade glioma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLE Exonuclease Domain Mutation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Programmed death ligand-1 (PD-L1) blocking antibody response	Conflicting classifications of pathogenicity; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XFE progeroid syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Addison Disease	Addison`s Disease	BEFREE	31610036		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	25394778		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	26251183		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23263490, 23447401, 24583393, 24788313, 25370038, 25529843, 30086056, 30827058		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27705013, 31285513		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30899426		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28805995, 30368636		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29061774, 30362666		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23263490, 24844595, 25529843, 26975040, 27491810, 28498284, 29133142		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31673068		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	24844595, 25394778, 28718916		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24472300, 30448219, 31265121		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27612425		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23263490, 23358219, 23528559, 23585368, 24788313, 25370038, 25559809, 26133394, 26169059, 26216840, 26251183, 26493165, 27612425, 28188750, 28368425, 28423643, 29072370, 29120461, 29604063, 29987844, 30086056, 30231850, 30362666, 30368636, 31049795, 31240875, 31555933		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	23263490, 26053496		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	23263490, 26053496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25860647, 33764464	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	26251183		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31310644		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31217858		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	26556035, 26937754, 27997699, 31340883, 31757464		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23263490, 23447401, 23528559, 24472300, 24509466, 24583393, 24844595, 24861832, 25394778, 25505230, 25878334, 26748215, 26763250, 26937754, 27006490, 27288544, 27491810, 27997699, 28079598, 28424422, 28498284, 28795426, 29061774, 29133142, 29559562, 29659608, 30415991, 31261170, 31461377, 31472940, 31672974, 31757464, 31829447, 31846532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29955143, 33174010	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	24472300		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24472300		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	23230001	Associate	★☆☆☆☆ Found in Text Mining only
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	BEFREE	23230001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	GENOMICS_ENGLAND_DG	23230001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	ORPHANET_DG	23230001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	30368636		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27683556, 27807100, 30368636		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27683556, 27807100, 30368636		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23230001	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	28218421, 29120461		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMAGe syndrome	IMAGe Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30503519		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	31217858		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	30503519		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	ORPHANET_DG	30503519		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17855454		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	28218421, 29120461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30368636		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29061774, 30362666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23263490, 23447401, 23528559, 24509466, 25505230, 25878334, 26937754, 27288544, 28424422, 28498284, 28795426, 29559562, 29659608, 31461377, 31472940, 31757464, 31846532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26806129		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31673068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24472300, 30448219, 31265121		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30194485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23504502		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24844595, 24861832, 25394778, 26548627, 27491810, 27573199, 27612425, 27941362, 29020732, 29212164, 29604063, 29622466, 30818169, 31673068		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27612425, 31089268		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19129559		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	26493165, 31642347		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26251183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	22899712		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	27705013		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	20677014		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20503108, 24788313, 24844595, 24861832, 25505230, 25720322, 25878334, 26216840, 26232337, 26493165, 26648449, 26748215, 26763250, 26937754, 27022117, 27421752, 28178681, 28347512, 28368425, 28423643, 28424422, 28577310, 28647100, 28795426, 28863077, 28945609, 29061774, 29132872, 29133142, 29386312, 29487705, 29622466, 29978950, 30042065, 30073642, 30194485, 30291241, 30291344, 30448219, 30899426, 30908539, 31114938, 31240875, 31673068, 31757464		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	16699561, 23263490, 24501277, 25370038, 25529843, 8679562		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29572003		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24472300, 30448219		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28852190, 30448219, 31265121		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25860647	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30194485		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30899426		★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	29763623		★☆☆☆☆ Found in Text Mining only
Polymerase proofreading-related adenomatous polyposis	Adenomatous Polyposis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	30827058		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31310644		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	26648449		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23504502		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30630526		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	27573199, 28805995		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	27491810		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	29386312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	HPO_DG			★☆☆☆☆ Found in Text Mining only