Disease: Oculopalatoskeletal syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 GeneticVariation disease BEFREE We evaluated six unrelated individuals with 3MC1 syndrome and performed Sanger sequencing for all coding exons of MASP1. 26419238 2015
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 GeneticVariation disease BEFREE Autosomal mutations in the CL-K1 or MASP-3 genes cause a developmental disorder called 3MC (Carnevale, Mingarelli, Malpuech and Michels) syndrome, characterised by facial, genital, renal and limb abnormalities. 25912189 2015
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 Biomarker disease CTD_human Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 21258343 2011
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 21035106 2010
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Three additional cases of the Michels syndrome. 17937425 2007
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Exon structure of the gene encoding the human mannose-binding protein-associated serine protease light chain: comparison with complement C1r and C1s genes. 8921412 1996
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 CausalMutation disease CLINVAR
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND