TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation BEFREE Gingival fibroblast cell lines were derived from Sorsby's fundus dystrophy (SFD) patients carrying the S181C TIMP3 and the E139X TIMP3 mutations. 12757930 2003
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation BEFREE In this study, we have extended previous findings on a Ser181Cys founder mutation in SFD families from the British Isles and show that carriers of this mutation residing in Canada, the United States, and South Africa likewise are descendants of the British ancestor. 9400791 1997
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation UNIPROT Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 8981947 1997
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation UNIPROT Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys). 8728699 1996
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation BEFREE Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. 8639088 1996
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation BEFREE Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys). 8728699 1996
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation UNIPROT Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 7550309 1995
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation UNIPROT A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 8634721 1995
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.840 GeneticVariation UNIPROT Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 7894485 1994
dbSNP: rs137853298
rs137853298
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		T 0.840 CausalMutation CLINVAR
dbSNP: rs137853300
rs137853300
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation BEFREE First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice. 20206286 2010
dbSNP: rs137853299
rs137853299
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 8981947 1997
dbSNP: rs137853300
rs137853300
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 8981947 1997
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation BEFREE We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family. 8981947 1997
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family. 8981947 1997
dbSNP: rs137853299
rs137853299
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT We now report the occurrence of the Tyr168Cys mutation in an SFD patient of Austrian descent and show that this mutation found earlier in an American SFD family arose independently. 8728699 1996
dbSNP: rs137853299
rs137853299
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation BEFREE Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys). 8728699 1996
dbSNP: rs137853300
rs137853300
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT More recently, two additional SFD related mutations, Ser156Cys and Gly167Cys, have provided further confirmation that heterozygous mutations in TIMP3 are causally responsible for the SFD phenotype. 8728699 1996
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. 8728699 1996
dbSNP: rs137853299
rs137853299
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 8634721 1995
dbSNP: rs137853299
rs137853299
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 7550309 1995
dbSNP: rs137853300
rs137853300
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 8634721 1995
dbSNP: rs137853300
rs137853300
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 7550309 1995
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 8634721 1995
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		0.810 GeneticVariation UNIPROT Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 7550309 1995