Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. 27637299 2016
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 22405933 2012
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533 2012
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 21707688 2011
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 21677043 2011
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. 21714469 2010
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 19506388 2009
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 GeneticVariation BEFREE These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan. 16756469 2006
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 15693879 2005
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.710 CausalMutation CLINVAR Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 11442002 2001