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473 Possible Causes for 72C G, TERC

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  • Idiopathic Pulmonary Fibrosis

    […] by SFTPC) and surfactant protein A2 (SFTPA2), and two components of the telomerase complex, telomerase reverse transcriptase (TERT) and the RNA component of telomerase (TERC[ncbi.nlm.nih.gov] Genes: ABCA3; AP3B1; DKC1; HPS1; HPS4; NKX2-1; SFTPA2; SFTPC; TERC; TERT; TINF2 Syndrome Information Clinical Description Idiopathic pulmonary fibrosis is a heterogeneous[hopkinsmedicine.org]

    Missing: 72C G
  • Primary Ciliary Dyskinesia 25

    INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)[mendelian.co] HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, SMAD4, ENG, SERPINA1, SLC7A7, RTEL1, SCNN1A, SCNN1G, SCNN1B, OFD1, EDN3, DKC1, BLOC1S6, TERC[mendelian.co] View the complete list with 45 more genes INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1[mendelian.co]

    Missing: 72C G
  • Cervical Dysplasia

    The assay reliably identified HPV integration, TERC and c-myc copy number gain as determined by comparisons with established biomarkers.[ncbi.nlm.nih.gov] […] classical biomarkers, PCR-ELISA-determined HPV genotype and immunohistochemically assessed p16INK4a and Ki-67 expression, cells with integrated HPV and copy number gain of TERC[ncbi.nlm.nih.gov]

    Missing: 72C G
  • TORCH Syndrome

    2 telomerase holoenzyme complex GO:0005697 8.96 DKC1 TERC 3 box H/ACA telomerase RNP complex GO:0090661 8.62 DKC1 TERC Biological processes related to Torch Syndrome according[malacards.org] Syndrome according to GeneCards Suite gene sharing: # Name GO ID Score Top Affiliating Genes 1 telomerase activity GO:0003720 8.62 DKC1 TERC Sources for Torch Syndrome[malacards.org] […] to GeneCards Suite gene sharing: # Name GO ID Score Top Affiliating Genes 1 telomere maintenance via telomerase GO:0007004 8.62 DKC1 TERC Molecular functions related to Torch[malacards.org]

    Missing: 72C G
  • Limbal Stem Cell Deficiency

    All eight known disease-causing genes in DC (DKC1, TERC, TERT, NOP10, NHP2, TINF2, C16orf57, and TCAB1) were screened for mutations.[ncbi.nlm.nih.gov] All eight known disease-causing genes in DC ( DKC1 , TERC , TERT , NOP10 , NHP2 , TINF2 , C16orf57, and TCAB1 ) were screened for mutations.[link.springer.com]

    Missing: 72C G
  • Acute Leukemia

    Familial Myelodysplastic Syndrome/Acute Leukemia Panel includes sequence and deletion/duplication analysis of the following 10 genes: ANKRD26, CEBPA, GATA2, RUNX1, SRP72, TERC[dnatesting.uchicago.edu]

    Missing: 72C G
  • Cardiac Dilatation

    We studied Terc-/- mice at the second, G2, and fifth, G5, generation.[ncbi.nlm.nih.gov] To determine whether telomere shortening leads to a cardiac phenotype, we studied heart function in the telomerase knockout mouse, Terc-/-.[ncbi.nlm.nih.gov] Telomere shortening in G2 and G5 Terc-/- mice was coupled with attenuation in cardiac myocyte proliferation, increased apoptosis and cardiac myocyte hypertrophy.[ncbi.nlm.nih.gov]

    Missing: 72C G
  • Myelodysplasia

    All of these families were screened for RUNX1, CEBPA, TERC, TERT and GATA2 as well as TET2 and NPM1.[ncbi.nlm.nih.gov] The predisposing genetic factors include mutations in the RUNX1, CEBPA, GATA2, ANKRD26, ETV6, DDX41, TERC or TERT and SRP72 genes.[ncbi.nlm.nih.gov] […] associated diseases/syndromes – congenital sensorineural hearing loss Clinical phenotype – bone marrow failure or aplasia Classical inherited bone marrow failure syndromes TERT/TERC[arupconsult.com]

    Missing: 72C G
  • Medulloblastoma

    Genetic testing of the metastatic deposit revealed loss of functions mutations in SUFU, NOTCH3, and TP53 and TERC amplification.[ncbi.nlm.nih.gov]

    Missing: 72C G
  • Dyskeratosis Congenita

    Aliases Dyskeratosis congenita, Autosomal dominant, DKCA1 Scoggins type Telomerase RNA Component, TERC, hTR, TR, 3q21-28 TERC Gene Sequencing Performed at GeneDx Date of Change[ltd.aruplab.com] We identified a 4 nt deletion in TERC in a family with an autosomal-dominant form of DC.[ncbi.nlm.nih.gov] The cause of this was determined to be a reduction in TERC levels in those with the Nop10 mutation.[en.wikipedia.org]

    Missing: 72C G

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