Hydrolethalus syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (Human Disease Ontology, DOID_0050779)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536079
Similar Terms
Downloads & Tools


1 genes/proteins associated with the disease Hydrolethalus syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
KIF7 kinesin family member 7 2.88009