Gene: SEC24D ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 GeneticVariation disease BEFREE We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2. 30462379 2018
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		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
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 GermlineCausalMutation disease ORPHANET Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 Biomarker disease CTD_human