|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Hydrolethalus syndrome from the curated CTD Gene-Disease Associations dataset.
|KIF7||kinesin family member 7||2.88009|