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
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
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery. 25948407 2015
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO