Disease: Saldino-Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 27094867 2016
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome. 26044959 2015
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014