Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.600 GeneticVariation disease UNIPROT Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.600 CausalMutation disease CLINVAR