ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 28642162 2017
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. 25975359 2015
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 22871183 2013
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 22736615 2012
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722 2011
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722 2011
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469 2010
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469 2010
dbSNP: rs118203985
rs118203985
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs199473693
rs199473693
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C1644196
Disease:
Ectopia Lentis with Ectopia of Pupil 		C 0.700 CausalMutation CLINVAR
dbSNP: rs368482584
rs368482584
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776927
rs587776927
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs747160538
rs747160538
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C1644196
Disease:
Ectopia Lentis with Ectopia of Pupil 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs794726688
rs794726688
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C1644196
Disease:
Ectopia Lentis with Ectopia of Pupil 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726688
rs794726688
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726689
rs794726689
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C3541474
Disease:
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769194347
rs769194347
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0175702
Disease:
Williams Syndrome 		0.010 GeneticVariation BEFREE The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). 25053872 2014
dbSNP: rs769194347
rs769194347
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0265313
Disease:
Weill-Marchesani syndrome 		0.010 GeneticVariation BEFREE The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). 25053872 2014
dbSNP: rs778345588
rs778345588
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		0.010 GeneticVariation BEFREE The clinical presentation of ELP can be variable, but all patients of our study with homozygous p.Q752X mutation have ectopia lentis and pupillary dysfunction in common. 23426735 2013
dbSNP: rs118203985
rs118203985
Entrez Id: 54507;100289061
Gene Symbol: ADAMTSL4;ADAMTSL4-AS2
ADAMTSL4;ADAMTSL4-AS2
CUI: C0013581
Disease:
Ectopia Lentis 		0.010 GeneticVariation BEFREE Recently in a consanguineous Jordanian family, recessive EL was mapped to locus 1q21 containing the ADAMTSL4 gene and a nonsense mutation was found in exon 11 (c.1785T>G, p.Y595X). 20564469 2010