dyskeratosis congenita Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (Human Disease Ontology, DOID_2729)
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Genes

67 genes co-occuring with the disease dyskeratosis congenita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
DKC1 dyskeratosis congenita 1, dyskerin 3.73057
NOP10 NOP10 ribonucleoprotein 2.72601
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 2.621
NHP2 NHP2 ribonucleoprotein 2.42479
TERT telomerase reverse transcriptase 2.19563
SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor 1.93327
RTEL1 regulator of telomere elongation helicase 1 1.87837
TRUB1 TruB pseudouridine (psi) synthase family member 1 1.84454
TRUB2 TruB pseudouridine (psi) synthase family member 2 1.83228
USB1 U6 snRNA biogenesis 1 1.79661
GAR1 GAR1 ribonucleoprotein 1.70724
CTC1 CTS telomere maintenance complex component 1 1.65385
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 1.38909
WRAP53 WD repeat containing, antisense to TP53 0.942443
ENY2 enhancer of yellow 2 homolog (Drosophila) 0.939949
TERF2IP telomeric repeat binding factor 2, interacting protein 0.937044
ACD adrenocortical dysplasia homolog (mouse) 0.931656
SBDS Shwachman-Bodian-Diamond syndrome 0.911022
TERF2 telomeric repeat binding factor 2 0.858952
POT1 protection of telomeres 1 0.846669
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.845031
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.830689
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.797052
FANCB Fanconi anemia, complementation group B 0.792541
PDE4C phosphodiesterase 4C, cAMP-specific 0.790902
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.783526
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 0.735838
DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8 0.735838
DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 0.707157
RUVBL1 RuvB-like AAA ATPase 1 0.677504
BRIP1 BRCA1 interacting protein C-terminal helicase 1 0.658422
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 0.658026
RECQL4 RecQ protein-like 4 0.633563
RUVBL2 RuvB-like AAA ATPase 2 0.63042
HBS1L HBS1-like translational GTPase 0.622575
XPC xeroderma pigmentosum, complementation group C 0.619051
HBG1 hemoglobin, gamma A 0.610057
GATA2 GATA binding protein 2 0.564889
XG Xg blood group 0.562946
FRMD6 FERM domain containing 6 0.534635
TP53 tumor protein p53 0.533861
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 0.522273
FERMT1 fermitin family member 1 0.521117
RPS14 ribosomal protein S14 0.516494
SGPL1 sphingosine-1-phosphate lyase 1 0.501527
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.493885
RUNX1 runt-related transcription factor 1 0.483224
AP1M2 adaptor-related protein complex 1, mu 2 subunit 0.424014
AP2M1 adaptor-related protein complex 2, mu 1 subunit 0.392257
SEC23B Sec23 homolog B (S. cerevisiae) 0.364085
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.359657
FES FES proto-oncogene, tyrosine kinase 0.357446
MDM4 MDM4, p53 regulator 0.357077
RGMA repulsive guidance molecule family member a 0.336876
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 0.331391
USH1C Usher syndrome 1C (autosomal recessive, severe) 0.326281
SIRT7 sirtuin 7 0.319726
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.318272
HNMT histamine N-methyltransferase 0.289386
ELANE elastase, neutrophil expressed 0.273308
CPN1 carboxypeptidase N, polypeptide 1 0.267977
LIG4 ligase IV, DNA, ATP-dependent 0.254536
ASPA aspartoacylase 0.251718
BRCA2 breast cancer 2, early onset 0.188326
IL3 interleukin 3 0.177576
RPS19 ribosomal protein S19 0.172544
BGN biglycan 0.160948