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: 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: 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