TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; N. variants: 19
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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
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 Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 7894485 1994
dbSNP: rs137853301
rs137853301
Entrez Id: 7078;8224
Gene Symbol: TIMP3;SYN3
TIMP3;SYN3
CUI: C1850938
Disease:
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		T 0.810 CausalMutation CLINVAR