Disease: COLE-CARPENTER SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 27942778 2017
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.600 CausalMutation disease CLINVAR