dyskeratosis congenita Gene Set

Dataset DISEASES Curated 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)
Similar Terms
Downloads & Tools

Genes

9 genes involed in the disease dyskeratosis congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
DCLRE1B DNA cross-link repair 1B
DKC1 dyskeratosis congenita 1, dyskerin
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
RTEL1 regulator of telomere elongation helicase 1
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
WRAP53 WD repeat containing, antisense to TP53