Disease Term Disease ID Gene Symbol Classification References Source
Congenital central hypothyroidism C4302200 IRS4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10644546 -
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency C4511136 TRHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20537182, 22851492 -