Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation CLINVAR

Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation CLINVAR NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 28642162

2017
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722

2011
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823

2010
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.100 CausalMutation CLINVAR NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 28642162

2017
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.100 CausalMutation CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722

2011
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.100 CausalMutation CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823

2010
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.100 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010