TDRD7, tudor domain containing 7, 23424

N. diseases: 17; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151304
Disease: CATARACT 36
CATARACT 36
0.600 Biomarker disease GENOMICS_ENGLAND RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract. 24435515 2014
CUI: C3151304
Disease: CATARACT 36
CATARACT 36
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151304
Disease: CATARACT 36
CATARACT 36
0.600 CausalMutation disease CLINVAR
CUI: C3151304
Disease: CATARACT 36
CATARACT 36
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151304
Disease: CATARACT 36
CATARACT 36
0.600 Biomarker disease CTD_human
CUI: C0086543
Disease: Cataract
Cataract
0.410 Biomarker disease BEFREE We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. 21436445 2011
CUI: C0086543
Disease: Cataract
Cataract
0.410 Biomarker disease CTD_human We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. 21436445 2011
CUI: C0086543
Disease: Cataract
Cataract
0.410 Biomarker disease HPO
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 GeneticVariation disease BEFREE Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans. 31048812 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 GeneticVariation disease BEFREE Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome.ConclusionWe identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.GENETICS in MEDICINE advance online publication, 24 August 2017; doi:10.1038/gim.2017.130. 28837160 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.320 Biomarker disease GENOMICS_ENGLAND RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract. 24435515 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.310 Biomarker disease CTD_human We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. 21436445 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.310 GeneticVariation disease BEFREE Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C0021400
Disease: Influenza
Influenza
0.300 Biomarker disease CTD_human A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2. 23326326 2013
CUI: C0021364
Disease: Male infertility
Male infertility
0.300 Biomarker phenotype CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
0.300 Biomarker disease CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
0.300 Biomarker phenotype CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C0917731
Disease: Male sterility
Male sterility
0.300 Biomarker phenotype CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
0.300 Biomarker phenotype CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 Biomarker disease BEFREE Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls. 31048812 2019
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
0.020 GeneticVariation disease BEFREE Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans. 31048812 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 GeneticVariation disease BEFREE Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome.ConclusionWe identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.GENETICS in MEDICINE advance online publication, 24 August 2017; doi:10.1038/gim.2017.130. 28837160 2017
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
0.020 GeneticVariation disease BEFREE Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans. 28837160 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Although the highest tumor uptake was found for <sup>68</sup>Ga-FSC-(RGD)<sub>3</sub> and <sup>68</sup>Ga-THP-(RGD)<sub>3</sub> in the SK-RC-52 and FaDu models, respectively, selection of the optimal tracer for specific diagnostic applications also depends on tumor-to-blood ratio and uptake in normal tissues; these factors should therefore also be considered. 29626124 2018
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.010 AlteredExpression disease BEFREE The antiviral activity of TDRD7 against SeV, human parainfluenza virus 3 and respiratory syncytial virus was confirmed by its genetic ablation or ectopic expression in several types of mouse and human cells. 29381763 2018