Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. 27672545 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Inherited defects in thyroid hormone cell-membrane transport and metabolism. 24629861 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Genetic disorders of thyroid metabolism and brain development. 24665922 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. 23550058 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 22805248 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. 21896621 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care. 21098685 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8. 20628049 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 18398436 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. 12871948 2003
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Allan-Herndon syndrome. I. Clinical studies. 2393019 1990