TDRD7, tudor domain containing 7, 23424

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