MTNR1A, melatonin receptor 1A, 4543

N. diseases: 79; N. variants: 6
Disease: Androgen-Insensitivity Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.030 Biomarker disease BEFREE The asymmetric expression of several molecules involved in the melatonin signaling pathway, including melatonin receptors 1A/1B (MTNR1A/MTNR1B), estrogen receptor 2 (ESR2) and calmodulin (CALM1), has previously been suggested to be associated with AIS. 27840943 2016
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.030 AlteredExpression disease BEFREE While MT1 receptors were expressed in osteoblasts of all AIS subjects, osteoblasts of only 7 of 11 AIS showed expression of MT2 receptors. 21480980 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.030 GeneticVariation disease BEFREE A genetic association study to investigate variation of the melatonin receptor 1A (MTNR1A) gene in adolescent idiopathic scoliosis (AIS) patients. 18794763 2008