Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
Mapped by PBA pathway |
|
SF3A3 |
splicing factor 3a, subunit 3, 60kDa |
Mapped by PBA pathway |
|
CPSF7 |
cleavage and polyadenylation specific factor 7, 59kDa |
Mapped by significant region |
|
NR5A1 |
nuclear receptor subfamily 5, group A, member 1 |
Mapped by significant region |
|
LSM11 |
LSM11, U7 small nuclear RNA associated |
Mapped by significant region |
|
XPA |
xeroderma pigmentosum, complementation group A |
Mapped by significant region |
|
SF3A2 |
splicing factor 3a, subunit 2, 66kDa |
Mapped by PBA pathway |
|
TXN |
thioredoxin |
Mapped by significant region |
|
MED13 |
mediator complex subunit 13 |
Mapped by PBA pathway |
|
MED15 |
mediator complex subunit 15 |
Mapped by CNV |
|
SMC3 |
structural maintenance of chromosomes 3 |
Mapped by PBA pathway |
|
NXF1 |
nuclear RNA export factor 1 |
Mapped by significant region |
|
SF3B2 |
splicing factor 3b, subunit 2, 145kDa |
Mapped by PBA pathway; Mapped by significant region |
|
MAPK3 |
mitogen-activated protein kinase 3 |
Mapped by CNV |
|
NEDD4L |
neural precursor cell expressed, developmentally down-regulated 4-like |
Mapped by significant region |
|
PLK1 |
polo-like kinase 1 |
Mapped by significant region |
|
DUSP2 |
dual specificity phosphatase 2 |
Mapped by LD-proxy |
|
RNF169 |
ring finger protein 169 |
Mapped by significant region |
|
POLE |
polymerase (DNA directed), epsilon |
Mapped by CNV |
|
TP53BP1 |
tumor protein p53 binding protein 1 |
Mapped by LD-proxy; Mapped by literature SNP |
|
MED14 |
mediator complex subunit 14 |
Mapped by PBA pathway |
|
ATM |
ataxia telangiectasia mutated |
Mapped by CNV; Mapped by significant region |
|
DDX23 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 |
Mapped by PBA pathway |
|
CDC26 |
cell division cycle 26 homolog (S. cerevisiae) |
Mapped by significant region |
|
MED17 |
mediator complex subunit 17 |
Mapped by PBA pathway; Mapped by significant region |
|
NR4A3 |
nuclear receptor subfamily 4, group A, member 3 |
Mapped by significant region |
|
POLR1A |
polymerase (RNA) I polypeptide A, 194kDa |
Mapped by CNV |
|
SNRPG |
small nuclear ribonucleoprotein polypeptide G |
Mapped by PBA pathway |
|
MED12 |
mediator complex subunit 12 |
Mapped by PBA pathway |
|
RFWD2 |
ring finger and WD repeat domain 2 |
Mapped by significant region |
|
EGLN3 |
egl nine homolog 3 (C. elegans) |
Mapped by LD-proxy; Mapped by literature SNP |
|
RCC1 |
regulator of chromosome condensation 1 |
Mapped by PBA pathway |
|
ESRRA |
estrogen-related receptor alpha |
Mapped by significant region |
|
TAF10 |
TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa |
Mapped by CNV |
|
H2AFX |
H2A histone family, member X |
Mapped by significant region |
|
DROSHA |
drosha, ribonuclease type III |
Mapped by significant region |
|
MED16 |
mediator complex subunit 16 |
Mapped by PBA pathway |
|
PHF5A |
PHD finger protein 5A |
Mapped by PBA pathway |
|
CDC40 |
cell division cycle 40 homolog (S. cerevisiae) |
Mapped by PBA pathway |
|
GATA6 |
GATA binding protein 6 |
Mapped by significant region |
|
NCOA6 |
nuclear receptor coactivator 6 |
Mapped by PBA pathway |
|
PSMB7 |
proteasome (prosome, macropain) subunit, beta type, 7 |
Mapped by significant region |
|
ESF1 |
ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) |
Mapped by CNV |
|
POLR2G |
polymerase (RNA) II (DNA directed) polypeptide G |
Mapped by significant region |
|
SF3A1 |
splicing factor 3a, subunit 1, 120kDa |
Mapped by PBA pathway |
|
SNRPF |
small nuclear ribonucleoprotein polypeptide F |
Mapped by PBA pathway |
|
GINS2 |
GINS complex subunit 2 (Psf2 homolog) |
Mapped by significant region |
|
SMC1A |
structural maintenance of chromosomes 1A |
Mapped by PBA pathway |
|
E2F5 |
E2F transcription factor 5, p130-binding |
Mapped by CNV |
|
IRF7 |
interferon regulatory factor 7 |
Mapped by LD-proxy |
|
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
Mapped by PBA pathway |
IDA[8521471]
|
RELA |
v-rel reticuloendotheliosis viral oncogene homolog A (avian) |
Mapped by significant region |
|
CDC14B |
CDC14 cell division cycle 14 homolog B (S. cerevisiae) |
Mapped by significant region |
IDA[18662541]
|
MED24 |
mediator complex subunit 24 |
Mapped by PBA pathway |
|
NCBP1 |
nuclear cap binding protein subunit 1, 80kDa |
Mapped by significant region |
|
TINF2 |
TERF1 (TRF1)-interacting nuclear factor 2 |
Mapped by significant region |
|
BANF1 |
barrier to autointegration factor 1 |
Mapped by significant region |
|
UBC |
ubiquitin C |
Mapped by CNV |
|
POLA2 |
polymerase (DNA directed), alpha 2 (70kD subunit) |
Mapped by significant region |
|
CDC25B |
cell division cycle 25 homolog B (S. pombe) |
Mapped by CNV |
|
RPS6KB2 |
ribosomal protein S6 kinase, 70kDa, polypeptide 2 |
Mapped by significant region |
|
TERF2IP |
telomeric repeat binding factor 2, interacting protein |
Mapped by significant region |
|
KPNA5 |
karyopherin alpha 5 (importin alpha 6) |
Mapped by CNV; Mapped by significant region |
|
MED23 |
mediator complex subunit 23 |
Mapped by significant region |
|
POLD3 |
polymerase (DNA-directed), delta 3, accessory subunit |
Mapped by significant region |
|
GRHL1 |
grainyhead-like 1 (Drosophila) |
Mapped by significant region |
|
CENPP |
centromere protein P |
Mapped by significant region |
|
MED1 |
mediator complex subunit 1 |
Mapped by LD-proxy; Mapped by PBA pathway |
|
NRBP1 |
nuclear receptor binding protein 1 |
Mapped by PBA pathway |
|
MED4 |
mediator complex subunit 4 |
Mapped by PBA pathway |
|
SF3B3 |
splicing factor 3b, subunit 3, 130kDa |
Mapped by PBA pathway |
|
CENPN |
centromere protein N |
Mapped by significant region |
|
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
Mapped by CNV; Mapped by PBA pathway; Mapped by significant region |
|
NR6A1 |
nuclear receptor subfamily 6, group A, member 1 |
Mapped by significant region |
|
SSRP1 |
structure specific recognition protein 1 |
Mapped by significant region |
|
DDB1 |
damage-specific DNA binding protein 1, 127kDa |
Mapped by significant region |
|
CCND1 |
cyclin D1 |
Mapped by significant region |
|
POLD4 |
polymerase (DNA-directed), delta 4 |
Mapped by significant region |
|
HNRNPH1 |
heterogeneous nuclear ribonucleoprotein H1 (H) |
Mapped by CNV |
|
SNW1 |
SNW domain containing 1 |
Mapped by PBA pathway |
|
SF3B4 |
splicing factor 3b, subunit 4, 49kDa |
Mapped by PBA pathway |
|
HNRNPC |
heterogeneous nuclear ribonucleoprotein C (C1/C2) |
Mapped by PBA pathway |
|
MED30 |
mediator complex subunit 30 |
Mapped by PBA pathway |
|
RORA |
RAR-related orphan receptor A |
Mapped by LD-proxy; Mapped by literature SNP |
|
GTF2H3 |
general transcription factor IIH, polypeptide 3, 34kDa |
Mapped by CNV |
|
YAP1 |
Yes-associated protein 1 |
Mapped by significant region |
|
PRKAB2 |
protein kinase, AMP-activated, beta 2 non-catalytic subunit |
Mapped by CNV |
|
NCOR2 |
nuclear receptor corepressor 2 |
Mapped by CNV |
|
NUMA1 |
nuclear mitotic apparatus protein 1 |
Mapped by significant region |
|
STRN3 |
striatin, calmodulin binding protein 3 |
Mapped by significant region |
IDA[11570823]
|
PRPF6 |
PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) |
Mapped by PBA pathway |
|
MRE11A |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
Mapped by significant region |
|
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Mapped by CNV |
TAS[7801128]
|
ZFPM1 |
zinc finger protein, multitype 1 |
Mapped by significant region |
|
KIF23 |
kinesin family member 23 |
Mapped by PBA pathway |
|
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
Mapped by PBA pathway |
|
U2AF2 |
U2 small nuclear RNA auxiliary factor 2 |
Mapped by PBA pathway |
|
RBM4 |
RNA binding motif protein 4 |
Mapped by significant region |
IDA[12628928]
|
ANAPC4 |
anaphase promoting complex subunit 4 |
Mapped by CNV |
|
CLP1 |
CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) |
Mapped by significant region |
|
MED7 |
mediator complex subunit 7 |
Mapped by significant region |
|
FUS |
fused in sarcoma |
Mapped by CNV |
|
SNRPA1 |
small nuclear ribonucleoprotein polypeptide A' |
Mapped by PBA pathway |
|
PRPF8 |
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) |
Mapped by PBA pathway |
|
IRF9 |
interferon regulatory factor 9 |
Mapped by significant region |
|
PSME2 |
proteasome (prosome, macropain) activator subunit 2 (PA28 beta) |
Mapped by significant region |
|
RAD23B |
RAD23 homolog B (S. cerevisiae) |
Mapped by significant region |
|
PCF11 |
PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) |
Mapped by significant region |
|
CBFA2T3 |
core-binding factor, runt domain, alpha subunit 2; translocated to, 3 |
Mapped by significant region |
|
SNRPA |
small nuclear ribonucleoprotein polypeptide A |
Mapped by PBA pathway |
|
SMARCD3 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 |
Mapped by PBA pathway |
|
MAML1 |
mastermind-like 1 (Drosophila) |
Mapped by CNV |
|
SKP2 |
S-phase kinase-associated protein 2 (p45) |
Mapped by significant region |
|
PSME1 |
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) |
Mapped by significant region |
|
BNIP3 |
BCL2/adenovirus E1B 19kDa interacting protein 3 |
Mapped by CNV |
|
SART1 |
squamous cell carcinoma antigen recognized by T cells |
Mapped by significant region |
IDA[16687569]
|
RSF1 |
remodeling and spacing factor 1 |
Mapped by significant region |
|
ERCC8 |
excision repair cross-complementing rodent repair deficiency, complementation group 8 |
Mapped by CNV |
|
UBB |
ubiquitin B |
Mapped by significant region |
|
CAMK2D |
calcium/calmodulin-dependent protein kinase II delta |
Mapped by CNV |
|
XRCC5 |
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) |
Mapped by significant region |
|
MEN1 |
multiple endocrine neoplasia I |
Mapped by significant region |
|
MAPK1 |
mitogen-activated protein kinase 1 |
Mapped by LD-proxy |
|
RAD1 |
RAD1 homolog (S. pombe) |
Mapped by significant region |
|
HEMGN |
hemogen |
Mapped by significant region |
|
DHX9 |
DEAH (Asp-Glu-Ala-His) box polypeptide 9 |
Mapped by significant region |
|
MAML2 |
mastermind-like 2 (Drosophila) |
Mapped by significant region |
|
HINFP |
histone H4 transcription factor |
Mapped by significant region |
IDA[11553631]
|
NMD3 |
NMD3 homolog (S. cerevisiae) |
Mapped by CNV |
|
SNRNP200 |
small nuclear ribonucleoprotein 200kDa (U5) |
Mapped by LD-proxy |
|
FANCA |
Fanconi anemia, complementation group A |
Mapped by significant region |
|
PRPF4 |
PRP4 pre-mRNA processing factor 4 homolog (yeast) |
Mapped by significant region |
|
FANCC |
Fanconi anemia, complementation group C |
Mapped by significant region |
|
TRIP12 |
thyroid hormone receptor interactor 12 |
Mapped by PBA pathway |
|
CHEK1 |
CHK1 checkpoint homolog (S. pombe) |
Mapped by significant region |
|
RAN |
RAN, member RAS oncogene family |
Mapped by PBA pathway |
|
KDM1A |
lysine (K)-specific demethylase 1A |
Mapped by LD-proxy |
|
TAF13 |
TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa |
Mapped by CNV |
|
PSMD7 |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 |
Mapped by significant region |
|
MAPK9 |
mitogen-activated protein kinase 9 |
Mapped by CNV |
|
HMGA1 |
high mobility group AT-hook 1 |
Mapped by PBA pathway |
|
POLR3E |
polymerase (RNA) III (DNA directed) polypeptide E (80kD) |
Mapped by CNV; Mapped by significant region |
|
RRN3 |
RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) |
Mapped by CNV; Mapped by significant region |
|
CDT1 |
chromatin licensing and DNA replication factor 1 |
Mapped by significant region |
|
PALB2 |
partner and localizer of BRCA2 |
Mapped by significant region |
|
TXNL4A |
thioredoxin-like 4A |
Mapped by PBA pathway |
|
SNRPD3 |
small nuclear ribonucleoprotein D3 polypeptide 18kDa |
Mapped by CNV; Mapped by PBA pathway |
|
SNRPD2 |
small nuclear ribonucleoprotein D2 polypeptide 16.5kDa |
Mapped by PBA pathway |
|
TAF1B |
TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa |
Mapped by significant region |
|
RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
Mapped by CNV |
|
JMJD1C |
jumonji domain containing 1C |
Mapped by PBA pathway |
|
NCOR1 |
nuclear receptor corepressor 1 |
Mapped by significant region |
|
ZCRB1 |
zinc finger CCHC-type and RNA binding motif 1 |
Mapped by PBA pathway |
|
CD2BP2 |
CD2 (cytoplasmic tail) binding protein 2 |
Mapped by CNV |
IDA[15840814]
|
DGCR8 |
DiGeorge syndrome critical region gene 8 |
Mapped by CNV |
|
U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
Mapped by PBA pathway |
|
TAF1C |
TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa |
Mapped by CNV; Mapped by significant region |
|
PGR |
progesterone receptor |
Mapped by significant region |
|
SNRPD1 |
small nuclear ribonucleoprotein D1 polypeptide 16kDa |
Mapped by significant region |
|
PSMD5 |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 |
Mapped by significant region |
|
RAD9A |
RAD9 homolog A (S. pombe) |
Mapped by significant region |
|
MAPK7 |
mitogen-activated protein kinase 7 |
Mapped by significant region |
|
SQSTM1 |
sequestosome 1 |
Mapped by CNV |
|
RRM2 |
ribonucleotide reductase M2 |
Mapped by significant region |
|
CDC45 |
cell division cycle 45 homolog (S. cerevisiae) |
Mapped by CNV |
|
TAF4B |
TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa |
Mapped by significant region |
|
DHFRP1 |
dihydrofolate reductase pseudogene 1 |
Mapped by significant region |
|
ATF6 |
activating transcription factor 6 |
Mapped by CNV |
|
USP28 |
ubiquitin specific peptidase 28 |
Mapped by significant region |
IDA[17558397]
|
CPSF3 |
cleavage and polyadenylation specific factor 3, 73kDa |
Mapped by significant region |
|
SNRPB2 |
small nuclear ribonucleoprotein polypeptide B |
Mapped by PBA pathway |
|
FEN1 |
flap structure-specific endonuclease 1 |
Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region |
|
KDM2A |
lysine (K)-specific demethylase 2A |
Mapped by significant region |
|