STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Disease: Cerebral Palsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 GeneticVariation disease BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382 2019