abnormal telomere morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration (Mammalian Phenotype Ontology, MP_0010207)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010207
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Genes

18 gene mutations causing the abnormal telomere morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CTC1 CTS telomere maintenance complex component 1
DKC1 dyskeratosis congenita 1, dyskerin
DNA2 DNA replication helicase/nuclease 2
DOT1L DOT1-like histone H3K79 methyltransferase
FANCC Fanconi anemia, complementation group C
PIF1 PIF1 5'-to-3' DNA helicase
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
POT1 protection of telomeres 1
RAD21L1 RAD21-like 1 (S. pombe)
RTEL1 regulator of telomere elongation helicase 1
SLX4 SLX4 structure-specific endonuclease subunit
STAG1 stromal antigen 1
TERC telomerase RNA component
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP53 tumor protein p53