Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.020 GeneticVariation BEFREE Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH. 26709262 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.020 GeneticVariation BEFREE To establish the role of new TSH receptor (TSHr) variants (P27T, E34 K, R46P, D403N, W488R and M527T) recently identified in children with congenital hypothyroidism (CH) or subclinical hypothyroidism (SH) with a thyroid gland of normal size. 18727713 2009