Disease: Marden Walker like syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 GeneticVariation disease BEFREE The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2. 24478002 2014
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. 20887961 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease BEFREE In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. 20887961 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Further delineation of the Van den Ende-Gupta syndrome. 21108395 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 GermlineCausalMutation disease ORPHANET We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation. 22140376 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. 20887961 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 GeneticVariation disease UNIPROT In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. 20887961 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 GermlineCausalMutation disease ORPHANET In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. 20887961 2010
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease CTD_human
CUI: C1833136
Disease: Marden Walker like syndrome
Marden Walker like syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND