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| Gene ID | Symbol | Synonyms | Official Full Name | Location | SZ group ? | Functional group ? |
|---|---|---|---|---|---|---|
| 64421 | DCLRE1C | A-SCID | DCLREC1C | RS-SCID | SCIDA | SNM1C | DNA cross-link repair 1C | 10p13 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 Expression | |
| 27343 | POLL | BETAN | POLKAPPA | polymerase (DNA) lambda | 10q23 | CV:PGCnp DMG:Wockner_2014 DNM:Fromer_2014 PMID:cooccur | CompositeSet |
| 9126 | SMC3 | BAM | BMH | CDLS3 | CSPG6 | HCAP | SMC3L1 | structural maintenance of chromosomes 3 | 10q25 | CV:PGCnp Network PMID:cooccur | G2Cdb.humanPSD G2Cdb.humanPSP |
| 1643 | DDB2 | DDBB | UV-DDB2 | XPE | damage specific DNA binding protein 2 | 11p11.2 | CV:PGCnp | |
| 1408 | CRY2 | HCRY2 | PHLL2 | cryptochrome circadian clock 2 | 11p11.2 | CV:PGCnp PMID:cooccur | |
| 2188 | FANCF | FAF | Fanconi anemia complementation group F | 11p15 | CV:PGCnp DMG:Jaffe_2016 | |
| 2965 | GTF2H1 | BTF2 | P62 | TFB1 | TFIIH | general transcription factor IIH subunit 1 | 11p15.1-p14 | CV:PGCnp Network PMID:cooccur | |
| 6240 | RRM1 | R1 | RIR1 | RR1 | ribonucleotide reductase catalytic subunit M1 | 11p15.5 | CV:PGCnp PMID:cooccur | G2Cdb.humanPSD G2Cdb.humanPSP |
| 2237 | FEN1 | FEN-1 | MF1 | RAD2 | flap structure-specific endonuclease 1 | 11q12 | DMG:Nishioka_2013 DMG:Wockner_2014 PMID:cooccur | |
| 6749 | SSRP1 | FACT | FACT80 | T160 | structure specific recognition protein 1 | 11q12 | CV:PGCnp DMG:vanEijk_2014 | Ascano FMRP targets Chromatin Remodeling Genes |
| 57804 | POLD4 | POLDS | p12 | polymerase (DNA) delta 4, accessory subunit | 11q13 | PMID:cooccur | |
| 23649 | POLA2 | - | polymerase (DNA) alpha 2, accessory subunit | 11q13.1 | CV:PGCnp DMG:Jaffe_2016 | |
| 10714 | POLD3 | P66 | P68 | PPP1R128 | polymerase (DNA) delta 3, accessory subunit | 11q14 | CV:PGCnp | |
| 472 | ATM | AT1 | ATA | ATC | ATD | ATDC | ATE | TEL1 | TELO1 | ATM serine/threonine kinase | 11q22-q23 | CV:PGCnp GO_Annotation GSMA_I Network PMID:cooccur | INTRACELLULAR SIGNAL TRANSDUCTION Ascano FMRP targets |
| 3014 | H2AFX | H2A.X | H2A/X | H2AX | H2A histone family member X | 11q23.3 | CV:PGCnp DMG:Wockner_2014 GSMA_I | |
| 1111 | CHEK1 | CHK1 | checkpoint kinase 1 | 11q24.2 | CV:GWASdb CV:PGCnp Network PMID:cooccur | |
| 5965 | RECQL | RECQL1 | RecQ1 | RecQ like helicase | 12p12 | DMG:Jaffe_2016 | |
| 5893 | RAD52 | - | RAD52 homolog, DNA repair protein | 12p13-p12.2 | CV:PGCnp | |
| 23583 | SMUG1 | FDG | HMUDG | UNG3 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | 12q13.13 | CV:PGCnp PMID:cooccur | |
| 7334 | UBE2N | HEL-S-71 | UBC13 | UBCHBEN; UBC13 | UbcH-ben | UbcH13 | ubiquitin conjugating enzyme E2 N | 12q22 | CV:PGCnp DMG:Jaffe_2016 DMG:vanEijk_2014 Expression PMID:cooccur | RNA AND PROTEIN SYNTHESIS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS CompositeSet |
| 1407 | CRY1 | PHLL1 | cryptochrome circadian clock 1 | 12q23-q24.1 | CV:PGCnp PMID:cooccur | |
| 7374 | UNG | DGU | HIGM4 | HIGM5 | UDG | UNG1 | UNG15 | UNG2 | uracil DNA glycosylase | 12q23-q24.1 | CV:PGCnp | |
| 6996 | TDG | hTDG | thymine DNA glycosylase | 12q24.1 | CV:PGCnp PMID:cooccur | |
| 121642 | ALKBH2 | ABH2 | alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase | 12q24.11 | CV:PGCnp | |
| 144715 | RAD9B | - | RAD9 checkpoint clamp component B | 12q24.11 | CV:PGCnp | |
| 5426 | POLE | CRCS12 | FILS | POLE1 | polymerase (DNA) epsilon, catalytic subunit | 12q24.3 | CV:PGCnp PMID:cooccur | Ascano FMRP targets |
| 143 | PARP4 | ADPRTL1 | ARTD4 | PARP-4 | PARPL | PH5P | VAULT3 | VPARP | VWA5C | p193 | poly(ADP-ribose) polymerase family member 4 | 13q11 | CV:GWASdb CV:PGCnp DMG:Jaffe_2016 | |
| 675 | BRCA2 | BRCC2 | BROVCA2 | FACD | FAD | FAD1 | FANCD | FANCD1 | GLM3 | PNCA2 | XRCC11 | breast cancer 2 | 13q12.3 | CV:PGCnp GO_Annotation Network PMID:cooccur | |
| 5983 | RFC3 | RFC38 | replication factor C subunit 3 | 13q13.2 | CV:PGCnp DMG:Jaffe_2016 | |
| 328 | APEX1 | APE | APE1 | APEN | APEX | APX | HAP1 | REF1 | apurinic/apyrimidinic endodeoxyribonuclease 1 | 14q11.2 | DMG:Nishioka_2013 GSMA_I Network | |
| 7011 | TEP1 | TLP1 | TP1 | TROVE1 | VAULT2 | p240 | telomerase associated protein 1 | 14q11.2 | CV:PGCnp DNM:Xu_2012 GSMA_I | CompositeSet Chromatin Remodeling Genes |
| 11198 | SUPT16H | CDC68 | FACTP140 | SPT16 | SPT16/CDC68 | SPT16 homolog, facilitates chromatin remodeling subunit | 14q11.2 | CV:PGCnp GSMA_I | Potential synaptic genes |
| 26277 | TINF2 | DKCA3 | TIN2 | TERF1 (TRF1)-interacting nuclear factor 2 | 14q12 | CV:PGCnp DNM:Fromer_2014 GSMA_I | CompositeSet |
| 5427 | POLE2 | DPE2 | polymerase (DNA) epsilon 2, accessory subunit | 14q21-q22 | CV:PGCnp | |
| 5890 | RAD51B | R51H2 | RAD51L1 | REC2 | RAD51 paralog B | 14q23-q24.2 | CV:PGCnp DMG:Montano_2016 | |
| 27030 | MLH3 | HNPCC7 | mutL homolog 3 | 14q24.3 | CV:PGCnp DMG:vanEijk_2014 GO_Annotation | |
| 55775 | TDP1 | - | tyrosyl-DNA phosphodiesterase 1 | 14q32.11 | CV:PGCnp DMG:Nishioka_2013 | |
| 7517 | XRCC3 | CMM6 | X-ray repair complementing defective repair in Chinese hamster cells 3 | 14q32.3 | CV:PGCnp DMG:Wockner_2014 PMID:cooccur | Ascano FMRP targets |
| 7158 | TP53BP1 | 53BP1 | TDRD30 | TP53 | p202 | p53BP1 | tumor protein p53 binding protein 1 | 15q15-q21 | CV:PGCnp | G2Cdb.humanNRC G2Cdb.humanPSP Ascano FMRP targets |
| 1854 | DUT | dUTPase | deoxyuridine triphosphatase | 15q21.1 | CV:GWASdb DMG:vanEijk_2014 PMID:cooccur | |
| 5428 | POLG | MDP1 | MIRAS | MTDPS4A | MTDPS4B | PEO | POLG1 | POLGA | SANDO | SCAE | polymerase (DNA) gamma, catalytic subunit | 15q25 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 PMID:cooccur | Ascano FMRP targets |
| 641 | BLM | BS | RECQ2 | RECQL2 | RECQL3 | Bloom syndrome RecQ like helicase | 15q26.1 | CV:PGCnp DMG:Jaffe_2016 PMID:cooccur | Ascano FMRP targets |
| 2072 | ERCC4 | ERCC11 | FANCQ | RAD1 | XFEPS | XPF | excision repair cross-complementation group 4 | 16p13.12 | CV:PGCnp GSMA_IIE | |
| 7329 | UBE2I | C358B7.1 | P18 | UBC9 | ubiquitin conjugating enzyme E2 I | 16p13.3 | CV:PGCnp DMG:Jaffe_2016 Network | |
| 4350 | MPG | AAG | ADPG | APNG | CRA36.1 | MDG | Mid1 | PIG11 | PIG16 | anpg | N-methylpurine DNA glycosylase | 16p13.3 | DNM:Fromer_2014 PMID:cooccur | CompositeSet |
| 7014 | TERF2 | TRBF2 | TRF2 | telomeric repeat binding factor 2 | 16q22.1 | CV:PGCnp | |
| 2175 | FANCA | FA | FA-H | FA1 | FAA | FACA | FAH | FANCH | Fanconi anemia complementation group A | 16q24.3 | CV:PGCnp | |
| 7157 | TP53 | BCC7 | LFS1 | P53 | TRP53 | tumor protein p53 | 17p13.1 | Association Core CV:PGCnp GO_Annotation GR_COR GR_Ng GR_WM Network PMID:cooccur | |
| 6117 | RPA1 | HSSB | MST075 | REPA1 | RF-A | RP-A | RPA70 | replication protein A1 | 17p13.3 | CV:PGCnp DMG:Wockner_2014 | Ascano FMRP targets |
| 11232 | POLG2 | HP55 | MTPOLB | PEOA4 | POLB | POLG-BETA | POLGB | polymerase (DNA) gamma 2, accessory subunit | 17q | CV:PGCnp DMG:Jaffe_2016 | |
| 3980 | LIG3 | LIG2 | ligase III, DNA, ATP-dependent | 17q11.2-q12 | CV:PGCnp | Ascano FMRP targets |
| 672 | BRCA1 | BRCAI | BRCC1 | BROVCA1 | FANCS | IRIS | PNCA4 | PPP1R53 | PSCP | RNF53 | breast cancer 1 | 17q21 | CV:PGCnp DMG:Wockner_2014 Network PMID:cooccur | |
| 7153 | TOP2A | TOP2 | TP2A | topoisomerase (DNA) II alpha | 17q21.2 | CV:PGCnp Network PMID:cooccur | Ascano FMRP targets |
| 5889 | RAD51C | BROVCA3 | FANCO | R51H3 | RAD51L2 | RAD51 paralog C | 17q22 | CV:PGCnp DMG:Wockner_2014 | |
| 83990 | BRIP1 | BACH1 | FANCJ | OF | BRCA1 interacting protein C-terminal helicase 1 | 17q22.2 | CV:PGCnp DMG:Nishioka_2013 | |
| 1453 | CSNK1D | ASPS | CKIdelta | FASPS2 | HCKID | casein kinase 1 delta | 17q25 | DMG:Wockner_2014 Network PMID:cooccur | |
| 284131 | ENDOV | - | endonuclease V | 17q25.3 | CV:PGCnp PMID:cooccur | |
| 5932 | RBBP8 | COM1 | CTIP | JWDS | RIM | SAE2 | SCKL2 | retinoblastoma binding protein 8 | 18q11.2 | CV:PGCnp DMG:Jaffe_2016 | |
| 4152 | MBD1 | CXXC3 | PCM1 | RFT | methyl-CpG binding domain protein 1 | 18q21 | CV:PGCnp PMID:cooccur | Chromatin Remodeling Genes |
| 8932 | MBD2 | DMTase | NY-CO-41 | methyl-CpG binding domain protein 2 | 18q21 | CV:PGCnp PMID:cooccur | Chromatin Remodeling Genes |
| 11201 | POLI | RAD30B | RAD3OB | polymerase (DNA) iota | 18q21.1 | CV:PGCnp PMID:cooccur | |
| 5886 | RAD23A | HHR23A | HR23A | RAD23 homolog A, nucleotide excision repair protein | 19p13.2 | CV:PGCnp | |
| 56949 | XAB2 | HCNP | HCRN | NTC90 | SYF1 | XPA binding protein 2 | 19p13.2 | CV:PGCnp | Ascano FMRP targets |
| 10036 | CHAF1A | CAF-1 | CAF1 | CAF1B | CAF1P150 | P150 | chromatin assembly factor 1 subunit A | 19p13.3 | CV:PGCnp DMG:Wockner_2014 Network | |
| 53615 | MBD3 | - | methyl-CpG binding domain protein 3 | 19p13.3 | CV:PGCnp PMID:cooccur | Ascano FMRP targets Chromatin Remodeling Genes |
| 7515 | XRCC1 | RCC | X-ray repair complementing defective repair in Chinese hamster cells 1 | 19q13.2 | Association PMID:cooccur | G2Cdb.humanPSD G2Cdb.humanPSP |
| 5424 | POLD1 | CDC2 | CRCS10 | MDPL | POLD | polymerase (DNA) delta 1, catalytic subunit | 19q13.3 | CV:PGCnp DMG:Wockner_2014 Expression | |
| 2068 | ERCC2 | COFS2 | EM9 | TFIIH | TTD | TTD1 | XPD | excision repair cross-complementation group 2 | 19q13.3 | DMG:Jaffe_2016 | |
| 2067 | ERCC1 | COFS4 | RAD10 | UV20 | excision repair cross-complementation group 1 | 19q13.32 | DMG:Jaffe_2016 | |
| 64858 | DCLRE1B | APOLLO | SNM1B | SNMIB | DNA cross-link repair 1B | 1p13.2 | CV:PGCnp DMG:Jaffe_2016 GSMA_I | |
| 1647 | GADD45A | DDIT1 | GADD45 | growth arrest and DNA damage inducible alpha | 1p31.2 | CV:GWASdb CV:PGCnp GSMA_IIA | |
| 6118 | RPA2 | REPA2 | RP-A p32 | RP-A p34 | RPA32 | replication protein A2 | 1p35 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 | |
| 10459 | MAD2L2 | MAD2B | POLZ2 | REV7 | MAD2 mitotic arrest deficient-like 2 (yeast) | 1p36 | CV:PGCnp DMG:Wockner_2014 | |
| 2475 | MTOR | FRAP | FRAP1 | FRAP2 | RAFT1 | RAPT1 | SKS | mechanistic target of rapamycin | 1p36.2 | CV:PGCnp DNM:Xu_2012 PMID:cooccur | CompositeSet Darnell FMRP targets Ascano FMRP targets |
| 7161 | TP73 | P73 | tumor protein p73 | 1p36.3 | CV:PGCnp DMG:Wockner_2014 | |
| 142 | PARP1 | ADPRT | ADPRT 1 | ADPRT1 | ARTD1 | PARP | PARP-1 | PPOL | pADPRT-1 | poly(ADP-ribose) polymerase 1 | 1q41-q42 | CV:PGCnp DMG:Wockner_2014 Network PMID:cooccur | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL |
| 9156 | EXO1 | HEX1 | hExoI | exonuclease 1 | 1q43 | CV:GWASdb CV:PGCnp | |
| 5111 | PCNA | ATLD2 | proliferating cell nuclear antigen | 20pter-p12 | Network PMID:cooccur | |
| 7150 | TOP1 | TOPI | topoisomerase (DNA) I | 20q12-q13.1 | CV:PGCnp DMG:Jaffe_2016 DMG:Nishioka_2013 | Ascano FMRP targets |
| 8940 | TOP3B | TOP3B1 | topoisomerase (DNA) III beta | 22q11.22 | CV:PGCnp DNM:Xu_2012 GSMA_I PMID:cooccur | CompositeSet Ascano FMRP targets |
| 11200 | CHEK2 | CDS1 | CHK2 | HuCds1 | LFS2 | PP1425 | RAD53 | hCds1 | checkpoint kinase 2 | 22q12.1 | CV:PGCnp DMG:Jaffe_2016 DNM:Gulsuner_2013 GSMA_I | |
| 1454 | CSNK1E | CKIepsilon | HCKIE | casein kinase 1 epsilon | 22q13.1 | CV:PGCnp DMG:Wockner_2014 PMID:cooccur | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS G2Cdb.humanPSD G2Cdb.humanPSP |
| 56655 | POLE4 | YHHQ1 | p12 | polymerase (DNA) epsilon 4, accessory subunit | 2p12 | CV:PGCnp DMG:Nishioka_2013 Expression | |
| 2956 | MSH6 | GTBP | GTMBP | HNPCC5 | HSAP | p160 | mutS homolog 6 | 2p16 | CV:PGCnp DMG:Nishioka_2013 Network | |
| 55120 | FANCL | FAAP43 | PHF9 | POG | Fanconi anemia complementation group L | 2p16.1 | CV:PGCnp | |
| 55777 | MBD5 | MRD1 | methyl-CpG binding domain protein 5 | 2q23.1 | CV:PGCnp GSMA_I GSMA_IIA PMID:cooccur | CompositeSet Darnell FMRP targets Chromatin Remodeling Genes |
| 55183 | RIF1 | - | replication timing regulatory factor 1 | 2q23.3 | CV:PGCnp DNM:Fromer_2014 GSMA_IIA Network | CompositeSet |
| 5378 | PMS1 | HNPCC3 | MLH2 | PMSL1 | hPMS1 | PMS1 homolog 1, mismatch repair system component | 2q31.1 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 | |
| 7341 | SUMO1 | DAP1 | GMP1 | OFC10 | PIC1 | SENP2 | SMT3 | SMT3C | SMT3H3 | UBL1 | small ubiquitin-like modifier 1 | 2q33 | CV:PGCnp DMG:Jaffe_2016 | |
| 4292 | MLH1 | COCA2 | FCC2 | HNPCC | HNPCC2 | hMLH1 | mutL homolog 1 | 3p21.3 | CV:PGCnp GSMA_I | |
| 11277 | TREX1 | AGS1 | CRV | DRN3 | HERNS | three prime repair exonuclease 1 | 3p21.31 | DMG:Wockner_2014 | |
| 7155 | TOP2B | TOPIIB | top2beta | topoisomerase (DNA) II beta | 3p24 | CV:PGCnp DMG:Jaffe_2016 GO_Annotation GSMA_I PMID:cooccur | |
| 8930 | MBD4 | MED1 | methyl-CpG binding domain 4 DNA glycosylase | 3q21.3 | PMID:cooccur | Chromatin Remodeling Genes |
| 11073 | TOPBP1 | TOP2BP1 | topoisomerase (DNA) II binding protein 1 | 3q22.1 | CV:PGCnp CV:PheWAS | |
| 545 | ATR | FCTCS | FRP1 | MEC1 | SCKL | SCKL1 | ATR serine/threonine kinase | 3q23 | CV:PGCnp PMID:cooccur | Ascano FMRP targets |
| 8626 | TP63 | AIS | B(p51A) | B(p51B) | EEC3 | KET | LMS | NBP | OFC8 | RHS | SHFM4 | TP53CP | TP53L | TP73L | p40 | p51 | p53CP | p63 | p73H | p73L | tumor protein p63 | 3q28 | CV:PGCnp CV:PheWAS Network | |
| 55728 | N4BP2 | B3BP | NEDD4 binding protein 2 | 4p14 | CV:PGCnp DMG:Wockner_2014 | |
| 353497 | POLN | POL4P | polymerase (DNA) nu | 4p16.3 | CV:PGCnp DMG:Wockner_2014 | |
| 113510 | HELQ | HEL308 | helicase, POLQ-like | 4q21.23 | CV:PGCnp CV:PheWAS | |
| 7323 | UBE2D3 | E2(17)KB3 | UBC4/5 | UBCH5C | ubiquitin conjugating enzyme E2 D3 | 4q24 | CV:PGCnp DMG:Jaffe_2016 PMID:cooccur | |
| 4085 | MAD2L1 | HSMAD2 | MAD2 | MAD2 mitotic arrest deficient-like 1 (yeast) | 4q27 | CV:PGCnp DMG:Jaffe_2016 | |
| 3148 | HMGB2 | HMG2 | high mobility group box 2 | 4q31 | CV:PGCnp DMG:Nishioka_2013 DMG:vanEijk_2014 PMID:cooccur | |
| 11044 | PAPD7 | LAK-1 | LAK1 | POLK | POLS | TRF4 | TRF4-1 | TRF41 | TUTASE5 | PAP associated domain containing 7 | 5p15 | CV:PGCnp | Ascano FMRP targets |
| 7015 | TERT | CMM9 | DKCA2 | DKCB4 | EST2 | PFBMFT1 | TCS1 | TP2 | TRT | hEST2 | hTRT | telomerase reverse transcriptase | 5p15.33 | CV:PGCnp DMG:Wockner_2014 PMID:cooccur | Chromatin Remodeling Genes |
| 1022 | CDK7 | CAK1 | CDKN7 | HCAK | MO15 | STK1 | p39MO15 | cyclin-dependent kinase 7 | 5q12.1 | GO_Annotation | |
| 1161 | ERCC8 | CKN1 | CSA | UVSS2 | excision repair cross-complementation group 8 | 5q12.1 | CV:PGCnp | |
| 51426 | POLK | DINB1 | DINP | POLQ | polymerase (DNA) kappa | 5q13 | CV:PGCnp | |
| 7518 | XRCC4 | SSMED | X-ray repair complementing defective repair in Chinese hamster cells 4 | 5q14.2 | CV:PGCnp DMG:Nishioka_2013 PMID:cooccur | |
| 1070 | CETN3 | CDC31 | CEN3 | centrin 3 | 5q14.3 | CV:PGCnp | |
| 7320 | UBE2B | E2-17kDa | HHR6B | HR6B | RAD6B | UBC2 | ubiquitin conjugating enzyme E2 B | 5q31.1 | CV:PGCnp DMG:Jaffe_2016 Expression GSMA_I | |
| 7322 | UBE2D2 | E2(17)KB2 | PUBC1 | UBC4 | UBC4/5 | UBCH4 | UBCH5B | ubiquitin conjugating enzyme E2 D2 | 5q31.2 | CV:PGCnp GSMA_I | |
| 5429 | POLH | RAD30 | RAD30A | XP-V | XPV | polymerase (DNA) eta | 6p21.1 | CV:PGCnp DMG:Wockner_2014 GSMA_IIE | |
| 1026 | CDKN1A | CAP20 | CDKN1 | CIP1 | MDA-6 | P21 | SDI1 | WAF1 | p21CIP1 | cyclin-dependent kinase inhibitor 1A | 6p21.2 | CV:PGCnp DMG:Wockner_2014 GSMA_I GSMA_IIE Network PMID:cooccur | |
| 4439 | MSH5 | G7 | MUTSH5 | NG23 | mutS homolog 5 | 6p21.3 | CV:GWASdb CV:PGCnp GO_Annotation GSMA_I PMID:cooccur | |
| 2968 | GTF2H4 | P52 | TFB2 | TFIIH | general transcription factor IIH subunit 4 | 6p21.3 | CV:PGCnp DMG:Jaffe_2016 GSMA_I | |
| 56897 | WRNIP1 | WHIP | bA420G6.2 | Werner helicase interacting protein 1 | 6p25.2 | CV:PGCnp DMG:Jaffe_2016 GSMA_I | Ascano FMRP targets |
| 5980 | REV3L | POLZ | REV3 | REV3 like, DNA directed polymerase zeta catalytic subunit | 6q21 | CV:PGCnp DMG:Jaffe_2016 | CompositeSet Darnell FMRP targets |
| 5425 | POLD2 | - | polymerase (DNA) delta 2, accessory subunit | 7p13 | CV:PGCnp DMG:Wockner_2014 | |
| 27434 | POLM | Pol Mu | Tdt-N | polymerase (DNA) mu | 7p13 | CV:PGCnp DMG:Jaffe_2016 | |
| 4521 | NUDT1 | MTH1 | nudix hydrolase 1 | 7p22 | CV:PGCnp LK:YES | |
| 8379 | MAD1L1 | MAD1 | PIG9 | TP53I9 | TXBP181 | MAD1 mitotic arrest deficient-like 1 (yeast) | 7p22 | CV:GWAScat CV:GWASdb CV:PGC128 CV:PGCnp CV:Ripke_2013 DMG:Jaffe_2016 DMG:Montano_2016 DMG:Wockner_2014 LK:YES PMID:cooccur | |
| 5982 | RFC2 | RFC40 | replication factor C subunit 2 | 7q11.23 | CNV:YES CV:PGCnp DMG:Jaffe_2016 | |
| 7979 | SHFM1 | DSS1 | ECD | SEM1 | SHFD1 | SHSF1 | Shfdg1 | split hand/foot malformation (ectrodactyly) type 1 | 7q21.3 | CV:PGCnp PMID:cooccur | |
| 7486 | WRN | RECQ3 | RECQL2 | RECQL3 | Werner syndrome RecQ like helicase | 8p12 | CV:GWASdb CV:PGCnp DMG:Wockner_2014 DNM:Fromer_2014 GSMA_IIA GSMA_IIE | CompositeSet |
| 252969 | NEIL2 | NEH2 | NEI2 | nei like DNA glycosylase 2 | 8p23.1 | CV:PGCnp DMG:Jaffe_2016 | |
| 5591 | PRKDC | DNA-PKcs | DNAPK | DNPK1 | HYRC | HYRC1 | IMD26 | XRCC7 | p350 | protein kinase, DNA-activated, catalytic polypeptide | 8q11 | CV:PGCnp DMG:vanEijk_2014 DNM:McCarthy_2014 GO_Annotation Network | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS |
| 25788 | RAD54B | RDH54 | RAD54 homolog B (S. cerevisiae) | 8q22.1 | CV:PGCnp DMG:Nishioka_2013 | |
| 5885 | RAD21 | CDLS4 | HR21 | HRAD21 | MCD1 | NXP1 | SCC1 | hHR21 | RAD21 cohesin complex component | 8q24 | CV:PGCnp | |
| 2189 | FANCG | FAG | XRCC9 | Fanconi anemia complementation group G | 9p13 | CV:PGCnp DMG:Jaffe_2016 | |
| 54840 | APTX | AOA | AOA1 | AXA1 | EAOH | EOAHA | FHA-HIT | aprataxin | 9p13.3 | CV:PGCnp | |
| 2176 | FANCC | FA3 | FAC | FACC | Fanconi anemia complementation group C | 9q22.3 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 | Ascano FMRP targets |
| 7507 | XPA | XP1 | XPAC | xeroderma pigmentosum, complementation group A | 9q22.3 | CV:PGCnp DMG:Jaffe_2016 | |
| 5887 | RAD23B | HHR23B | HR23B | P58 | RAD23 homolog B, nucleotide excision repair protein | 9q31.2 | CV:PGCnp DMG:Jaffe_2016 | |
| 25 | ABL1 | ABL | JTK7 | bcr/abl | c-ABL | c-ABL1 | p150 | v-abl | ABL proto-oncogene 1, non-receptor tyrosine kinase | 9q34.1 | CV:PGCnp Network | Ascano FMRP targets |
| 8243 | SMC1A | CDLS2 | DXS423E | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCB | structural maintenance of chromosomes 1A | Xp11.22-p11.21 | CV:PGCnp PMID:cooccur | |
| 546 | ATRX | ATR2 | JMS | MRX52 | MRXHF1 | RAD54 | RAD54L | SFM1 | SHS | XH2 | XNP | ZNF-HX | alpha thalassemia/mental retardation syndrome X-linked | Xq21.1 | CV:PGCnp PMID:cooccur | G2Cdb.humanPSD G2Cdb.humanPSP Chromatin Remodeling Genes |
| 7319 | UBE2A | HHR6A | MRXS30 | MRXSN | RAD6A | UBC2 | ubiquitin conjugating enzyme E2 A | Xq24 | CV:PGCnp PMID:cooccur | |