Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.020 GeneticVariation disease BEFREE Our early studies revealed a missense mutation (R242H) of GRTH in 5.8% of Japanese patient population with azoospermia. 31040297 2019
Entrez Id: 7068
Gene Symbol: THRB
THRB
0.020 Biomarker disease BEFREE A missense mutation of R to H at amino acid 242 of GRTH found in 5.8% of a patient population with azoospermia causes loss of the cytoplasmic phospho-GRTH species with preservation of the non-phospho form in transfected cells. 31555207 2019