Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation group BEFREE Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. 28067412 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation group BEFREE Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 21455487 2011