Disease: Schwartz-Lelek syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. 29056330 2017
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 Biomarker disease BEFREE Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. 26820766 2016
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. 20943778 2011
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). 21149338 2011
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 20358596 2010
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE We propose that this craniometaphyseal dysplasia mutation causes a loss of ANKH protein expression and activity in the plasma membrane as a result of aberrant intracellular protein trafficking. 20186813 2010
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. 19257826 2009
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GeneticVariation disease BEFREE Mutations in ANK result in two distinct calcification disorders: craniometaphyseal dysplasia and familial calcium pyrophosphate dihydrate deposition disease. 16462526 2006
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GermlineCausalMutation disease ORPHANET Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 11326272 2001
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		0.380 GermlineCausalMutation disease ORPHANET Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. 11326338 2001