ASPH, aspartate beta-hydroxylase, 444

N. diseases: 69; N. variants: 6
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 GeneticVariation disease BEFREE A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome. 30194805 2018
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 GeneticVariation disease UNIPROT We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). 24768550 2014
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 GeneticVariation disease BEFREE Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. 24768550 2014
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 GermlineCausalMutation disease ORPHANET We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). 24768550 2014
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 Biomarker disease GENOMICS_ENGLAND We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). 24768550 2014
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 Biomarker disease CTD_human
CUI: C1832167
Disease: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 		0.720 CausalMutation disease CLINVAR