Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | PCSK9 | 255738 | proprotein convertase subtilisin/kexin type 9 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | Genome-scale chromosomal copy number alteration profiles and mutational statuses of p53 and beta-catenin in 87 hepatocellular carcinoma tumors were clarified [beta-catenin] |
Human | NKAIN2 | 154215 | Na+/K+ transporting ATPase interacting 2 | T-cell lymphoma breakpoint associated target 1 is a possible target gene for T-cell lineage-specific chromosome aberrations at 6q21 |
Human | LARP4 | 113251 | La ribonucleoprotein domain family, member 4 | FISH study showed no cytogenetic abnormalities in any of the analyzed cases |
Human | FOXP2 | 93986 | forkhead box P2 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | BEX2 | 84707 | brain expressed X-linked 2 | Correlation between BEX2 expression and mixed lineage leukemia chromosomal aberrations are shown in the cell lines |
Human | FIP1L1 | 81608 | factor interacting with PAPOLA and CPSF1 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | BRCA3 | 60500 | breast cancer 3 | Chromosome aberrations were detected significantly more often in BRCAX than in sporadic breast cancers |
Human | SIRT7 | 51547 | sirtuin 7 | Fluorescence in situ hybridization analysis localized the Sirt7 gene to chromosome 17q25.3; a region which is frequently affected by chromosomal alterations in acute leukemias and lymphomas |
Human | ZDHHC8 | 29801 | zinc finger, DHHC-type containing 8 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | SPINK5 | 11005 | serine peptidase inhibitor, Kazal type 5 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | HBXIP | 10542 | | HBXIP is a critical target of viral HBx for promoting genetic instability through formation of defective spindles and subsequent aberrant chromosome segregation |
Human | MDC1 | 9656 | mediator of DNA-damage checkpoint 1 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | SOCS1 | 8651 | suppressor of cytokine signaling 1 | Methylation of the SOCS1 gene, resulting in transcriptional silencing, has been found in 65% of hepatocellular carcinoma cases, correlates with cytogenetic abnormalities, and may play an important role in the development of the cancer |
Human | SMC1A | 8243 | structural maintenance of chromosomes 1A | Inhibition of SMC1 is associated with chromosomal aberrations |
Human | ADAM12 | 8038 | ADAM metallopeptidase domain 12 | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | NUP214 | 8021 | nucleoporin 214kDa | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | XRCC3 | 7517 | X-ray repair complementing defective repair in Chinese hamster cells 3 | the XRCC1 280His and XRCC3 241Met alleles affect individual chromosomal aberration levels, most probably via influencing the DNA repair phenotype |
Human | XRCC1 | 7515 | X-ray repair complementing defective repair in Chinese hamster cells 1 | benzene exposed workers with the combination of myeloperoxidase G/G genotype and XRCC1(x-ray cross-complementation group 1) Arg/Gln or Gln/Gln genotype showed a significantly increased chromosomal aberration frequency the XRCC1 280His and XRCC3 241Met alleles affect individual chromosomal aberration levels, most probably via influencing the DNA repair phenotype |
Human | WHSC2 | 7469 | | connection between the syndrome phenotype and cytogenetic abnormalities, through gradual shortening of the length of the critical region WHSCR (finally up to 165 kb), and sequencing it, at least 2 genes (WHSC1 and WHSC2) were identified |
Human | UBE3A | 7337 | ubiquitin protein ligase E3A | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | TRPS1 | 7227 | trichorhinophalangeal syndrome I | INFERRED, Score=800, UMLKSK CUI: C0008625 |
Human | TP53 | 7157 | tumor protein p53 | TP53 mutations in chronic lymphocytic leukemia were significantly associated with del (17p) and complex cytogenetic abnormalities Genome-scale chromosomal copy number alteration profiles and mutational statuses of p53 and beta-catenin in 87 hepatocellular carcinoma tumors were clarified Clinical course of B-CLL in group of patient with trisomy 12, trisomy 12 and TP53 deletion simultaneously is more aggressive compared to the course of disease of patients with no cytogenetic aberrations incidence of additional cytogenetic abnormalities, reflecting an increased chromosomal instability, was higher in >or=5%TP53-deleted cases |
Human | TNF | 7124 | tumor necrosis factor | TNFalpha induces chromosomal abnormalities independent of ROS through IKK, JNK, p38 and caspase pathways |