Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 Biomarker disease BEFREE Our results expand the mutational spectrum of TACSTD2 in patients with GDLD. 27149532 2016
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Mutation of Trop2 leads to gelatinous drop-like corneal dystrophy, whereas over-expression of Trop2 in human tumours promotes tumour aggressiveness and increases mortality. 25523132 2015
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE More than 90% of GDLD patients possessed the same haplotype with a Q118X mutation in TACSTD2. 23038033 2012
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Sequencing analysis of TACSTD2 revealed two novel homozygous mutations (c.840_841insTCATCATCGCCGGCCTCATC and c.675C>A which may result in frameshift (p.Ile281SerfsX23) and nonsense (p.Tyr225X) mutations, respectively) in the 3 GDLD patients. 21541270 2011
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. 20454699 2010
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GermlineCausalMutation disease ORPHANET Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. 20454699 2010
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 Biomarker disease BEFREE Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. 20651236 2010
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 Biomarker disease BEFREE There were no differences in the entire sequence of TACSTD2 in these patients compared with other GDLD patients. 21052915 2010
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient. 20806038 2010
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE We report a novel in-frame mutation of TACSTD2, c.526_576del 51, in the two brothers with GDLD. 19693293 2009
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families. 17653040 2007
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE It is concluded that GDLD in the pedigree is probably not caused by mutations in TACSTD2, supporting evidence for the existence of at least one other locus for GDLD. 17768381 2007
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE The coding region of TACSTD2 was sequenced in the probands of 13 unrelated Iranian GDLD pedigrees. 17898270 2007
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE To report a missense mutation in the M1S1 gene found in a Turkish patient with gelatinous droplike corneal dystrophy (GDLD). 17721311 2007
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. 17167402 2006
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype. 15652848 2005
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. 15254496 2005
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE These data indicate that the K84X and C108R mutations in M1S1 cause GDLD. 15295654 2004
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Examined were 18 eyes of ten patients with GDLD with no prior surgery.All were found to have M1S1 mutations. 15183793 2004
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE Although the M1S1 gene was responsible for GDLD in Vietnamese patients, the mutation found here is completely different from that previously reported in Japanese patients, where GDLD is most frequently seen. 12614764 2003
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. 12107443 2002
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE All patients with GDLD were found to be homozygous for the insertion of nucleotide C in position 520 in M1S1. 11687514 2001
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 GeneticVariation disease BEFREE The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. 11004271 2000
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 Biomarker disease GENOMICS_ENGLAND Identification of the gene responsible for gelatinous drop-like corneal dystrophy. 10192395 1999
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		0.800 Biomarker disease GENOMICS_ENGLAND