Disease: Cole Carpenter syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.610 GeneticVariation disease BEFREE We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2. 30462379 2018
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.610 GermlineCausalMutation disease ORPHANET Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.610 Biomarker disease CTD_human