Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 GeneticVariation CLINVAR Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. 27255745 2016
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 GeneticVariation CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533 2012
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 GeneticVariation CLINVAR Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. 20718767 2010
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 GeneticVariation CLINVAR Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. 14725684 2004
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 GeneticVariation CLINVAR Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 9185526 1997
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
0.700 CausalMutation CLINVAR