PCNA (proliferating cell nuclear antigen)

Gene

• Entrez ID: 5111
• Gene name: Proliferating cell nuclear antigen
• Gene symbol: PCNA
• Synonyms: ATLD2
• Chromosome: 20
• Chromosome location: 20p12.3
• Summary: The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369958038	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016528	hsa-miR-193b-3p	Microarray	20304954
MIRT023210	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT030351	hsa-miR-26b-5p	Microarray	19088304
MIRT030631	hsa-miR-24-3p	Reporter assay;Western blot;qRT-PCR	19748357
MIRT050722	hsa-miR-18a-5p	CLASH	23622248
MIRT049960	hsa-miR-30a-5p	CLASH	23622248
MIRT039725	hsa-miR-615-3p	CLASH	23622248
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454873	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454872	hsa-miR-877-5p	PAR-CLIP	26701625
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	27292025
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	27292025
MIRT454873	hsa-miR-542-3p	PAR-CLIP	27292025
MIRT454878	hsa-miR-548u	PAR-CLIP	27292025
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	27292025
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	27292025
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	27292025
MIRT454876	hsa-miR-8087	PAR-CLIP	27292025
MIRT454872	hsa-miR-877-5p	PAR-CLIP	27292025
MIRT732824	hsa-miR-527	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33472586
MIRT732851	hsa-miR-28-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33624782
MIRT733817	hsa-miR-451b	qRT-PCR, Western blotting	33725258
MIRT023210	hsa-miR-124-3p	Microarray, qRT-PCR	31788082
MIRT560227	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT560226	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT560225	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT560224	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT560223	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT560222	hsa-miR-5580-5p	PAR-CLIP	20371350
MIRT560221	hsa-miR-222-5p	PAR-CLIP	20371350
MIRT560220	hsa-miR-4642	PAR-CLIP	20371350
MIRT454878	hsa-miR-548u	PAR-CLIP	21572407
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	21572407
MIRT454876	hsa-miR-8087	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	21572407
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	21572407
MIRT454873	hsa-miR-542-3p	PAR-CLIP	21572407
MIRT454872	hsa-miR-877-5p	PAR-CLIP	21572407
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT350330	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23446348
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23446348
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23446348
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23446348
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	24398324
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT454873	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT454872	hsa-miR-877-5p	PAR-CLIP	24398324
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	24398324
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	24398324
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT454878	hsa-miR-548u	PAR-CLIP	23592263
MIRT454877	hsa-miR-7161-5p	PAR-CLIP	23592263
MIRT454876	hsa-miR-8087	PAR-CLIP	23592263
MIRT454875	hsa-miR-374c-3p	PAR-CLIP	23592263
MIRT454874	hsa-miR-5002-5p	PAR-CLIP	23592263
MIRT454873	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT454872	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT454871	hsa-miR-6866-5p	PAR-CLIP	23592263
MIRT454870	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218173	hsa-miR-154	CLIP-seq
MIRT1218174	hsa-miR-2467-3p	CLIP-seq
MIRT1218175	hsa-miR-3123	CLIP-seq
MIRT1218176	hsa-miR-338-5p	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218178	hsa-miR-3678-3p	CLIP-seq
MIRT1218179	hsa-miR-3682-5p	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218180	hsa-miR-3919	CLIP-seq
MIRT1218181	hsa-miR-3925-5p	CLIP-seq
MIRT1218182	hsa-miR-3976	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT1218186	hsa-miR-4699-3p	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218187	hsa-miR-526b	CLIP-seq
MIRT1218188	hsa-miR-570	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq
MIRT1218190	hsa-miR-578	CLIP-seq
MIRT1218191	hsa-miR-877	CLIP-seq
MIRT1218171	hsa-miR-1269	CLIP-seq
MIRT1218172	hsa-miR-1269b	CLIP-seq
MIRT1218165	hsa-miR-1276	CLIP-seq
MIRT1218177	hsa-miR-345	CLIP-seq
MIRT1218166	hsa-miR-371-5p	CLIP-seq
MIRT1218167	hsa-miR-371b-5p	CLIP-seq
MIRT1218183	hsa-miR-4263	CLIP-seq
MIRT1218168	hsa-miR-4277	CLIP-seq
MIRT2063021	hsa-miR-4457	CLIP-seq
MIRT1218184	hsa-miR-4520b-3p	CLIP-seq
MIRT1218185	hsa-miR-4529-3p	CLIP-seq
MIRT2063022	hsa-miR-513b	CLIP-seq
MIRT1218169	hsa-miR-513c	CLIP-seq
MIRT1218170	hsa-miR-514b-5p	CLIP-seq
MIRT1218189	hsa-miR-576-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AHR	Activation	12417031
ATM	Unknown	22362778
CDX1	Activation	11743638
E2F1	Activation	14618416
EP300	Repression	10618724
EZH2	Activation	21629038
HDAC1	Repression	9650586
HDAC1	Unknown	18691180
HMGN1	Unknown	22393258
HOXA1	Unknown	17213808
ING1	Unknown	18691180
MYC	Unknown	18809243
PRDM1	Unknown	20530581
PURA	Repression	18386260
RB1	Repression	9671466
RFX1	Repression	10336433
TFDP1	Activation	14618416
YY1	Activation	16099430
YY1	Unknown	7479004

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IDA	11005803
GO:0000723	Process	Telomere maintenance	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	23277426
GO:0003682	Function	Chromatin binding	IDA	23277426, 24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0005515	Function	Protein binding	IPI	8861913, 9305916, 10873631, 11005803, 11022036, 11595739, 14657243, 15225546, 15358233, 15543136, 15550930, 15576034, 15805117, 16000169, 16189514, 16482215, 16510448, 16826239, 17955473, 18316726, 18499658, 18692475, 18719106, 19150984, 19419956, 19505873, 19730436, 20457750, 20605
GO:0005634	Component	Nucleus	IDA	15494374, 19734146, 24939902
GO:0005652	Component	Nuclear lamina	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IDA	9774970
GO:0005813	Component	Centrosome	IDA	18331714
GO:0006272	Process	Leading strand elongation	IBA	21873635
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006296	Process	Nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	TAS
GO:0006298	Process	Mismatch repair	IBA	21873635
GO:0006298	Process	Mismatch repair	IDA	11005803
GO:0006298	Process	Mismatch repair	TAS
GO:0006977	Process	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS
GO:0007507	Process	Heart development	IEA
GO:0008022	Function	Protein C-terminus binding	IMP	11595739
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016604	Component	Nuclear body	IDA
GO:0019899	Function	Enzyme binding	IPI	24115439
GO:0019985	Process	Translesion synthesis	IBA	21873635
GO:0019985	Process	Translesion synthesis	IDA	20129063
GO:0019985	Process	Translesion synthesis	TAS
GO:0030331	Function	Estrogen receptor binding	IEA
GO:0030337	Function	DNA polymerase processivity factor activity	IBA	21873635
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0030894	Component	Replisome	TAS	24115439
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	17115032
GO:0031297	Process	Replication fork processing	ISS	24115439
GO:0032077	Process	Positive regulation of deoxyribonuclease activity	IDA	19443450
GO:0032139	Function	Dinucleotide insertion or deletion binding	IDA	11005803
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032355	Process	Response to estradiol	IEA
GO:0032405	Function	MutLalpha complex binding	IDA	11005803
GO:0033683	Process	Nucleotide-excision repair, DNA incision	TAS
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0035035	Function	Histone acetyltransferase binding	IPI	24939902
GO:0042276	Process	Error-prone translesion synthesis	TAS
GO:0042769	Process	DNA damage response, detection of DNA damage	TAS
GO:0042802	Function	Identical protein binding	IPI	15805117, 25416956, 26030842, 31515488, 32296183
GO:0043596	Component	Nuclear replication fork	IDA	15543136, 21383955
GO:0043626	Component	PCNA complex	IBA	21873635
GO:0043626	Component	PCNA complex	IDA	24939902
GO:0044849	Process	Estrous cycle	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11595739
GO:0045739	Process	Positive regulation of DNA repair	IMP	24939902
GO:0045740	Process	Positive regulation of DNA replication	IMP	24939902
GO:0046686	Process	Response to cadmium ion	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070182	Function	DNA polymerase binding	IPI	19995904, 24939902
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070557	Component	PCNA-p21 complex	IDA	11595739, 18794347
GO:0070987	Process	Error-free translesion synthesis	TAS
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IMP	11595739
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	ISS	24115439

Other IDs

• MIM: 176740
• HGNC: 8729
• e!Ensembl: ENSG00000132646

Protein

• UniProt ID: P12004
• Protein name: Proliferating cell nuclear antigen (PCNA) (Cyclin)
• Protein function: Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand (PubMed:35585232). Induces a robust stimulatory
• PDB: 1AXC, 1U76, 1U7B, 1UL1, 1VYJ, 1VYM, 1W60, 2ZVK, 2ZVL, 2ZVM, 3JA9, 3P87, 3TBL, 3VKX, 3WGW, 4D2G, 4RJF, 4ZTD, 5E0T, 5E0U, 5E0V, 5IY4, 5MAV, 5MLO, 5MLW, 5MOM, 5YCO, 5YD8, 6CBI, 6EHT, 6FCM, 6FCN, 6GIS, 6GWS, 6HVO, 6K3A, 6QC0, 6QCG, 6S1M, 6S1N, 6S1O, 6TNY, 6TNZ, 6VVO, 7EFA, 7KQ0, 7KQ1, 7M5L, 7M5M, 7M5N, 7NV0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00705	PCNA_N	1 → 125	Proliferating cell nuclear antigen, N-terminal domain	Domain
  PF02747	PCNA_C	127 → 254	Proliferating cell nuclear antigen, C-terminal domain	Domain

• Sequence:

  MFEARLVQGSILKKVLEALKDLINEACWDISSSGVNLQSMDSSHVSLVQLTLRSEGFDTY
  RCDRNLAMGVNLTSMSKILKCAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMD
  LDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVISCAKDGVKFSASGELGNGNI
  KLSQTSNVDKEEEAVTIEMNEPVQLTFALRYLNFFTKATPLSSTVTLSMSADVPLVVEYK
  IADMGHLKYYLAPKIEDEEGS

• Sequence length: 261

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
Cell cycle
Tight junction
Hepatitis B

Reactome:

Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Transcription of E2F targets under negative control by DREAM 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
SUMOylation of DNA replication proteins
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
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
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
G1/S-Specific Transcription
E3 ubiquitin ligases ubiquitinate target proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	19028472
Ataxia-telangiectasia-like disorder	ATAXIA-TELANGIECTASIA-LIKE DISORDER, ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	rs137852759, rs137852761, rs137852762, rs587781381, rs587781384, rs371077728, rs587781822, rs745677716, rs774277300, rs774440500, rs786203931, rs786202253, rs747832587, rs863224508, rs779269083, rs876660186, rs780001540, rs876659343, rs776912688, rs759130031, rs876659145, rs878854776, rs984874083, rs1215450873, rs1376550081, rs1555015413, rs1555017184, rs1295485913, rs1451215042, rs951805101, rs1591688367, rs371455048, rs1274412848, rs1591681273, rs1565228898, rs1157436927, rs1245161888, rs1169667763, rs1157413766, rs1475506136, rs929767929	24911150
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	19028472
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	19723570, 19028472
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hepatoblastoma	Hepatoblastoma	rs137854578, rs28934573, rs121913412	11560253
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	11884234
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	10384915

Unknown
Disease name	Disease term	dbSNP ID	References
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	rs1800720, rs587781720	20932960
Intracranial neoplasm	Neoplasms, Intracranial		20932960
Cerebellar atrophy	Cerebellar atrophy
Conjunctival telangiectasis	Conjunctival telangiectasis
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Glomerular hyalinosis	Hyalinosis, Segmental Glomerular		17121042
Glomerulosclerosis	Focal glomerulosclerosis		17121042
Lung neoplasms	Lung Neoplasms		11884234
Neurodegenerative photosensitivity syndrome	PCNA-related progressive neurodegenerative photosensitivity syndrome
Palmoplantar pustules	Pustulosis of Palms and Soles		10384915