ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
Disease: Ectopia Lentis with Ectopia of Pupil ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 GeneticVariation disease BEFREE ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae. 21989719 2012
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 GeneticVariation disease BEFREE A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease GENOMICS_ENGLAND A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease GENOMICS_ENGLAND A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease CTD_human
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 CausalMutation disease CLINVAR