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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5424
Gene name	DNA polymerase delta 1, catalytic subunit
Gene symbol	POLD1
Synonyms (NCBI Gene)	CDC2CRCS10IMD120MDPLPOLD
Chromosome	19
Chromosome location	19q13.33
Summary	This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3` to 5` exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants ha

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9282830	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs41563714	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs45605236	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs139949679	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs140160345	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs140216790	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs140990974	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs144143245	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145473716	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, coding sequence variant
rs147911699	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149569984	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150010804	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150066950	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs199545019	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199993010	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs367680864	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs369332787	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs369613619	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs370478977	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, downstream transcript variant, intron variant
rs375365167	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs377690809	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs397514632	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398122386	CTC>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs587777627	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs745850676	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs753506843	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs760140187	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs760329559	CTC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs761914051	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762628311	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant, genic downstream transcript variant
rs772468675	A>G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs775363857	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1051057675	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs1555790184	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004837	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	19748357
MIRT004837	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	19748357
MIRT016440	hsa-miR-193b-3p	Microarray	20304954
MIRT023874	hsa-miR-1-3p	Proteomics	18668040
MIRT025336	hsa-miR-34a-5p	Proteomics	21566225
MIRT025336	hsa-miR-34a-5p	Proteomics	21566225
MIRT051665	hsa-let-7e-5p	CLASH	23622248
MIRT043208	hsa-miR-324-5p	CLASH	23622248
MIRT2072888	hsa-miR-3189-5p	CLIP-seq
MIRT2072889	hsa-miR-4258	CLIP-seq
MIRT2072890	hsa-miR-4281	CLIP-seq
MIRT2072891	hsa-miR-4292	CLIP-seq
MIRT2072892	hsa-miR-4308	CLIP-seq
MIRT2072888	hsa-miR-3189-5p	CLIP-seq
MIRT2072889	hsa-miR-4258	CLIP-seq
MIRT2072890	hsa-miR-4281	CLIP-seq
MIRT2072891	hsa-miR-4292	CLIP-seq
MIRT2072892	hsa-miR-4308	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	11375983
TP53	Unknown	11375983

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000109	Component	Nucleotide-excision repair complex	IDA	20713449
GO:0000166	Function	Nucleotide binding	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IDA	3335506, 24191025
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	1730053
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	3146346
GO:0003682	Function	Chromatin binding	IDA	16762037, 24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
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:0003887	Function	DNA-directed DNA polymerase activity	TAS	9620226
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	12403614, 15670210, 15805117, 16510448, 21044950, 23891004, 24191025, 24939902, 26496610, 28514442, 31449058, 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:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	16762037
GO:0006260	Process	DNA replication	TAS	9620226
GO:0006261	Process	DNA-templated DNA replication	IBA
GO:0006261	Process	DNA-templated DNA replication	IDA	20334433
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	3146346
GO:0006287	Process	Base-excision repair, gap-filling	IBA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	10559260, 10559261
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IC	20713449
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:0008296	Function	3'-5'-DNA exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0009411	Process	Response to UV	TAS	3146346
GO:0016020	Component	Membrane	HDA	19946888
GO:0016235	Component	Aggresome	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0043625	Component	Delta DNA polymerase complex	IBA
GO:0043625	Component	Delta DNA polymerase complex	IDA	11595739, 22465957
GO:0043625	Component	Delta DNA polymerase complex	IEA
GO:0043625	Component	Delta DNA polymerase complex	IPI	12403614
GO:0045004	Process	DNA replication proofreading	IBA
GO:0045004	Process	DNA replication proofreading	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0055089	Process	Fatty acid homeostasis	IMP	23770608
GO:0070987	Process	Error-free translesion synthesis	IDA	24191025
GO:0071897	Process	DNA biosynthetic process	IDA	11595739
GO:0071897	Process	DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
174761	9175	ENSG00000062822

P28340

Protein name

DNA polymerase delta catalytic subunit (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (DNA polymerase subunit delta p125)

Protein function

As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubM

PDB

6S1M , 6S1N , 6S1O , 6TNY , 6TNZ , 9EKB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03104	DNA_pol_B_exo1	130 → 477	DNA polymerase family B, exonuclease domain	Family
PF00136	DNA_pol_B	541 → 973	DNA polymerase family B	Family
PF14260	zf-C4pol	1012 → 1082	C4-type zinc-finger of DNA polymerase delta	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with high levels of expression in heart and lung. {ECO:0000269|PubMed:23770608}.

Sequence

MDGKRRPGPGPGVPPKRARGGLWDDDDAPRPSQFEEDLALMEEMEAEHRLQEQEEEELQS
VLEGVADGQVPPSAIDPRWLRPTPPALDPQTEPLIFQQLEIDHYVGPAQPVPGGPPPSRG
SVPVLRAFGVTDEGFSVCCHIHGFAPYFYTPAPPGFGPEHMGDLQRELNLAISRDSRGGR
ELTGPAVLAVELCSRESMFGYHGHGPSPFLRITVALPRLVAPARRLLEQGIRVAGLGTPS
FAPYEANVDFEIRFMVDTDIVGCNWLELPAGKYALRLKEKATQCQLEADVLWSDVVSHPP
EGPWQRIAPLRVLSFDIECAGRKGIFPEPERDPVIQICSLGLRWGEPEPFLRLALTLRPC
APILGAKVQSYEKEEDLLQAWSTFIRIMDPDVITGYNIQNFDLPYLISRAQTLKVQTFPF
LGRVAGLCSNIRDSSFQSKQTGRRDTKVVSMVGRVQMDMLQVLLREYKLRSYTLNAVSFH
FLGEQKEDVQHSIITDLQNGNDQTRRRLAVYCLKDAYLPLRLLERLMVLVNAVEMARVTG
VPLSYLLSRGQQVKVVSQLLRQAMHEGLLMPVVKSEGGEDYTGATVIEPLKGYYDVPIAT
LDFSSLYPSIMMAHNLCYTTLLRPGTAQKLGLTEDQFIRTPTGDEFVKTSVRKGLLPQIL
ENLLSARKRAKAELAKETDPLRRQVLDGRQLALKVSANSVYGFTGAQVGKLPCLEISQSV
TGFGRQMIEKTKQLVESKYTVENGYSTSAKVVYGDTDSVMCRFGVSSVAEAMALGREAAD
WVSGHFPSPIRLEFEKVYFPYLLISKKRYAGLLFSSRPDAHDRMDCKGLEAVRRDNCPLV
ANLVTASLRRLLIDRDPEGAVAHAQDVISDLLCNRIDISQLVITKELTRAASDYAGKQAH
VELAERMRKRDPGSAPSLGDRVPYVIISAAKGVAAYMKSEDPLFVLEHSLPIDTQYYLEQ
QLAKPLLRIFEPILGEGRAEAVLLRGDHTRCKTVLTGKVGGLLAFAKRRNCCIGCRTVLS
HQGAVCEFCQPRESELYQKEVSHLNALEERFSRLWTQCQRCQGSLHEDVICTSRDCPIFY
MRKKVRKDLEDQEQLLRRFGPPGPEAW

Sequence length

1107

Interactions

View interactions

	KEGG		Reactome
	DNA replication Base excision repair Nucleotide excision repair Mismatch repair Homologous recombination		Recognition of DNA damage by PCNA-containing replication complex Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Removal of the Flap Intermediate from the C-strand Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) 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 Polymerase switching Removal of the Flap Intermediate Processive synthesis on the lagging strand

8032

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carcinoma of pancreas	Pathogenic	rs2122507340	RCV001391200
Colorectal cancer, susceptibility to, 10	Likely pathogenic; Pathogenic	rs587777627, rs397514632, rs398122386	RCV000133512 RCV000033142 RCV001052191
Embryonal rhabdomyosarcoma	Pathogenic	rs398122386	RCV006253756
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs587777627, rs397514632, rs398122386	RCV000568467 RCV004943734 RCV000567311
Intellectual disability	Likely pathogenic	rs2122521078	RCV001376080
Mandibular hypoplasia-deafness-progeroid syndrome	Pathogenic	rs398122386	RCV000054542
POLD1-related disorder	Pathogenic	rs398122386	RCV004537238

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3212328	RCV005921435
Adenomatous polyp of colon	Uncertain significance	rs761127022	RCV003483620
Bile duct cancer	Benign; Likely benign	rs373404887	RCV001355082
Carcinoma of colon	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs778338383, rs202035484, rs199993010, rs145324823, rs796285537, rs41554817, rs372652150, rs3218755, rs3218775, rs3219440, rs147911699, rs78996304, rs199545019, rs200072694, rs2230248 View all (15 more)	RCV001357997 RCV001357515 RCV001356860 RCV001356191 RCV001358566 RCV001356862 RCV001357668 RCV001355699 RCV001356421 RCV001355911 RCV000210898 RCV001356402 RCV001356392 RCV001356777 RCV001354870 RCV001356425 RCV001357021 RCV001354218 RCV001354233 RCV001358127 RCV001354613 RCV001357148 RCV001357603 RCV001357026 RCV001357635 RCV001354158 RCV001355494 RCV001355720 RCV001355631 RCV001354769
Cervical cancer	Benign; Likely benign; Uncertain significance	rs770495723, rs1366413924	RCV005895266 RCV005896851
Cholangiocarcinoma	Benign	rs3212328	RCV005921442
Colon adenocarcinoma	Uncertain significance	rs1366413924	RCV005896850
Colon cancer	Benign; Likely benign	rs137953986	RCV000417237
Colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs778275831, rs143076166, rs1057519693, rs1057519694, rs765185645, rs2038473235	RCV000211516 RCV000590937 RCV000417275 RCV000417319 RCV000590955 RCV001293841
Combined immunodeficiency	Conflicting classifications of pathogenicity	rs1307047144	RCV004788075
Endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs3218773, rs150010804, rs542996664	RCV001357701 RCV001355957 RCV001357244
Familial cancer of breast	Uncertain significance; Benign; Likely benign	rs2122241005, rs149366027	RCV005928466 RCV005895265
Familial colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs144979965, rs41554817, rs141976385, rs143076166, rs779675467, rs878854552, rs371612922, rs748486492, rs779208942, rs918661445, rs868850526, rs1040524947, rs1568628299, rs1568639764, rs2039215653	RCV000709583 RCV000709584 RCV000709582 RCV003483586 RCV001535490 RCV000709593 RCV003483598 RCV001535579 RCV000709592 RCV000709591 RCV000709585 RCV000757928 RCV000709586 RCV000709590 RCV001535805
Familial colorectal cancer type X	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs778338383, rs371647100, rs369152704, rs56051075, rs760638243, rs3218774, rs3219457, rs376751542, rs2463239, rs1673046, rs201050276, rs143340270, rs376197467, rs1023405690, rs774130423 View all (13 more)	RCV005369852 RCV005361401 RCV005361402 RCV005361405 RCV005365184 RCV005361406 RCV005361408 RCV005355695 RCV005355692 RCV005365275 RCV005355748 RCV005365320 RCV005355830 RCV005355833 RCV005355832 RCV005365318 RCV005355829 RCV005355890 RCV005355834 RCV005356031 RCV005357696 RCV005357809 RCV005357801 RCV005357859 RCV005367481 RCV005357927 RCV005359527 RCV005359960
Familial ovarian cancer	Benign; Likely benign	rs137953986	RCV001354723
Gastric cancer	Benign; -; Likely benign; Uncertain significance	rs3212328, rs1060501808, rs140216790, rs201010746	RCV005921439 RCV005922742 RCV005893746 RCV005899470
Hereditary cancer	Conflicting classifications of pathogenicity	rs878854534, rs780604625, rs41563714, rs144143245, rs199792522, rs946088822	RCV005235157 RCV003492003 RCV003492004 RCV003492002 RCV003492057 RCV004701499
Immunodeficiency 120	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs2122197687, rs757442072, rs20582, rs571335388, rs76131127, rs8105725, rs3219392, rs140216790, rs61751955, rs147911699, rs370359745, rs144707871, rs780604625, rs750144413, rs377690809 View all (77 more)	RCV005023092 RCV005019375 RCV005396663 RCV005396653 RCV005396675 RCV005396673 RCV005396665 RCV005396661 RCV005025334 RCV005396691 RCV005396771 RCV005396774 RCV005025389 RCV005016637 RCV005016638 RCV005396787 RCV005396788 RCV005396770 RCV005016631 RCV005016632 RCV005396776 RCV005016633 RCV005016634 RCV005396779 RCV005396780 RCV005016635 RCV005396783 RCV005396785 RCV005025388 RCV005016636 RCV005016647 RCV005396837 RCV005016648 RCV005396836 RCV005016645 RCV005021859 RCV005398532 RCV005398556 RCV005398525 RCV005398534 RCV005398562 RCV005398529 RCV005398528 RCV005398558 RCV005027508 RCV005018772 RCV005398657 RCV005018776 RCV005018773 RCV005018777 RCV005018768 RCV005398600 RCV005398656 RCV005027509 RCV005018767 RCV005018775 RCV005018770 RCV005027510 RCV005018771 RCV005018774 RCV005018769 RCV005018805 RCV005018812 RCV005027588 RCV005027647 RCV005018954 RCV005018955 RCV005398817 RCV005398823 RCV005027648 RCV005027649 RCV005398901 RCV005018989 RCV005392174 RCV005027765 RCV005019083 RCV005392229 RCV005019081 RCV005019082 RCV005021074 RCV005027864 RCV005021060 RCV005027853 RCV005021051 RCV005021191 RCV005392456 RCV004577344 RCV005021319 RCV004577348 RCV005021525 RCV005021531 RCV005029815 RCV005014285
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs3212328, rs374719944	RCV005921437 RCV005895263
Malignant tumor of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs145473716, rs144656348, rs150238541, rs760329559, rs1060504366, rs367680864, rs765185645	RCV001269368 RCV001356988 RCV001354171 RCV001356990 RCV001355031 RCV001355436 RCV001357503
Malignant tumor of esophagus	Benign	rs3212328	RCV005921436
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	rs878854518, rs558663919, rs758877520, rs142017093, rs1555791075	RCV005895262 RCV005931083 RCV005900648 RCV005899469 RCV005912121
Micrognathia	Conflicting classifications of pathogenicity	rs1315638826	RCV004798920
Neoplasm	Uncertain significance; Conflicting classifications of pathogenicity	rs2513932084, rs750144413, rs761614971	RCV004673743 RCV004668866 RCV004668984
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs3212328, rs2122254534, rs1337231648	RCV005921440 RCV005934618 RCV005900261
Polymerase proofreading-related adenomatous polyposis	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs778338383, rs2122509943, rs113282414, rs149569984, rs45605236, rs764156081, rs753863287, rs201946114, rs773075581, rs374719944, rs371647100, rs369152704, rs370478977, rs56051075, rs369613619 View all (29 more)	RCV005369852 RCV005361943 RCV001358262 RCV005361201 RCV001357835 RCV005361215 RCV005361403 RCV005361410 RCV001354211 RCV001356623 RCV005361401 RCV005361402 RCV005361404 RCV005361405 RCV001354929 RCV005361408 RCV005361409 RCV001357798 RCV005355695 RCV001355794 RCV001356969 RCV005365275 RCV005355775 RCV005365281 RCV005355755 RCV005365321 RCV005355830 RCV005355833 RCV005355832 RCV005355828 RCV005355829 RCV005355834 RCV005365319 RCV005356031 RCV005357593 RCV001355779 RCV005357592 RCV005357696 RCV005357809 RCV005367481 RCV005357927 RCV005359527 RCV005359658 RCV005359960
Sarcoma	Benign; Likely benign	rs3212328, rs56368556, rs55808115	RCV005921438 RCV005904300 RCV005904301
See cases	Benign; Likely benign	rs144656348	RCV003128399
Thymoma	Benign	rs3212328	RCV005921441
Uterine carcinosarcoma	Likely benign; Benign	rs3219287, rs140216790	RCV005917542 RCV005893747
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs374719944, rs367945387, rs3218762, rs55808115	RCV005895264 RCV005900649 RCV005898036 RCV005904302

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32567205
Adenoma	Associate	25370038, 30827058
Adenomatous Polyposis Coli	Associate	28521875, 34140662, 35128723, 36291559, 37848928, 37990341
Adenomatous Polyps	Associate	32792570, 35620275
Allan Herndon Dudley syndrome	Associate	32567205
Alopecia	Associate	26172944
Aphasia Conduction	Associate	32792570
Attenuated familial adenomatous polyposis	Associate	31285513
Autoimmune Diseases	Associate	23245697
Brain Neoplasms	Associate	33948826, 35620275
Breast Neoplasms	Associate	17159154, 35351580, 35620275
Cafe au Lait Spots	Associate	27573199, 37990341
Carcinoma Non Small Cell Lung	Associate	32342665, 37345618
Carcinoma Renal Cell	Associate	35478106, 37095444
Central Nervous System Neoplasms	Associate	28976792
Colonic Neoplasms	Associate	36703617
Colonic Polyps	Associate	30827058
Colorectal Neoplasms	Associate	23528559, 25241845, 25370038, 25827231, 28368425, 28423643, 28521875, 29120461, 30683709, 30827058, 31857678, 32567205, 32792570, 33948826, 34250404 View all (6 more)
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	26648449, 31297992, 31857678, 36291559, 38191122
Contracture	Associate	26172944
Cutis Laxa Autosomal Recessive Type IIB	Associate	26172944, 28521875, 31750734, 35196257, 35590056, 35620275, 36280868
Deafness	Associate	26172944, 28521875, 31944473, 35196257, 35590056, 35620275, 36280868
Drug Hypersensitivity	Associate	31750734
Dyslexia	Associate	33948826
Endometrial Neoplasms	Associate	23447401, 23528559, 25827231, 26755646, 28368425, 32792570, 33948826, 35620275, 38191122, 38231514
Fetal Alcohol Spectrum Disorders	Associate	31449058
Gallbladder Neoplasms	Associate	33328484
Genetic Diseases Inborn	Associate	31449058
Glioblastoma	Associate	28912153, 37990341
Glioma	Associate	37990341
Growth Disorders	Associate	26172944
Hearing Loss	Associate	31944473
Hearing Loss Sensorineural	Associate	36280868
Hepatolenticular Degeneration	Associate	39809184
Immunologic Deficiency Syndromes	Associate	31449058
Intestinal Polyposis	Associate	27573199, 29367705, 32792570, 36856825
Kidney Neoplasms	Associate	37095444
Leukemia Myeloid Acute	Associate	39768855
Lipodystrophy	Associate	28521875, 33618333, 35590056, 35620275, 36280868
Lipodystrophy Familial Partial	Associate	28199729
Liposarcoma	Associate	35002543
Lung Neoplasms	Associate	31673068
Lymphopenia	Associate	31629014
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	24803180
Mandibular Diseases	Associate	26172944, 28521875, 31750734, 33618333, 35196257, 35590056, 35620275, 36280868
Mesothelioma	Associate	22905093
Metabolic Diseases	Associate	26172944, 31944473
Microsatellite Instability	Associate	31769227, 34250404
Mood Disorders	Associate	28199729
Multiple Myeloma	Associate	36861411
Neoplasm Metastasis	Associate	37105989
Neoplasms	Associate	11375983, 11891323, 19966286, 23447401, 25194673, 25827231, 26648449, 26755646, 27573199, 28368425, 28423643, 28512192, 28976792, 29763623, 30257222 View all (23 more)
Neoplasms Squamous Cell	Associate	24114512
Neoplastic Syndromes Hereditary	Associate	32792570, 34285382, 37848928
Nervous System Diseases	Associate	33618333
Neuroblastoma	Associate	9348340
Nonsyndromic sensorineural hearing loss	Associate	31944473
Oligodendroglioma	Associate	37990341
Ovarian Neoplasms	Associate	32762026, 33948826
Pancreatic Cyst	Associate	31576098
Pilomatrixoma	Associate	27573199
Polyposis Syndrome Hereditary Mixed 1	Associate	23447401, 30827058, 34285382
Precancerous Conditions	Associate	37105989
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	29768346
Proctocolitis	Associate	27573199
Prodromal Symptoms	Associate	37345618
Progeroid syndrome neonatal	Associate	26172944, 31750734
Prostatic Neoplasms	Associate	37950047
Prostatic Neoplasms Castration Resistant	Associate	37950047
Sarcoma Endometrial Stromal	Associate	32792570
Strabismus	Associate	35196257
T cell immunodeficiency primary	Associate	31629014
Triple Negative Breast Neoplasms	Associate	36001024
Turcot syndrome	Associate	27573199, 28368425, 35002543, 36291559
Urinary Bladder Neoplasms	Associate	37105989
Uterine Cervical Neoplasms	Associate	19389243
Uterine Diseases	Associate	33948826
Werner Syndrome	Associate	10781066, 22351772, 26172944
Werner Syndrome	Stimulate	22787159
X Linked Combined Immunodeficiency Diseases	Associate	31629014
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Inhibit	30427259

POLD1 (DNA polymerase delta 1, catalytic subunit)