ADCYAP1R1, ADCYAP receptor type I, 117

N. diseases: 118; N. variants: 7
Disease: Sudden infant death syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE These findings suggest that PAC1 plays the principal role in mediating the cardiorespiratory effects of PACAP in response to hypoxic stress during neonatal development and that defective PACAP signaling via PAC1 may contribute to the pathogenesis of SIDS. 30758978 2019
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE SIDS compared to non-SIDS had higher PACAP in the MBDR (p<0.05) and lower PAC1 in the medulla arcuate nucleus (p<0.001). 28392470 2017
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE Pituitary adenylate cyclase activating polypeptide (PACAP) and its cognate receptor 1 (PAC1), have been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). 28506824 2017
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 GeneticVariation disease BEFREE Overall, this study does not support a strong association between variants in the PAC1 gene and SIDS; however, a number of potential associations between race-specific variants and SIDS were identified that warrant targeted investigations in future studies. 23981011 2013