Revesz Debuse syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. (Orphanet Rare Disease Ontology, Orphanet_3088)
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1 genes/proteins associated with the disease Revesz Debuse syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 2.88009