TDRD7, tudor domain containing 7, 23424

N. diseases: 17; N. variants: 3
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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