Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3062
Gene Symbol: HCRTR2
HCRTR2
0.010 Biomarker disease BEFREE Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. 26555080 2016
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.010 GeneticVariation disease BEFREE Prader-Willi, Smith-Magenis, and ROHHAD syndromes are separate genetic disorders that do not directly affect the BDNF locus but share many similar clinical features with BDNF haploinsufficiency, and BDNF insufficiency is believed to possibly contribute to the pathophysiology of each of these conditions. 27288826 2016
Entrez Id: 3060
Gene Symbol: HCRT
HCRT
0.010 GeneticVariation disease BEFREE ROHHAD is highly unlikely to be caused by mutations in the exons of the genes for hypocretin and its two receptors. 26555080 2016
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
0.010 GeneticVariation disease BEFREE This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. 25781356 2015
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1
0.010 GeneticVariation disease BEFREE This report provides evidence that variation of the HTR1A, OTP, and PACAP genes are not responsible for ROHHAD. 21691246 2011
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
0.010 GeneticVariation disease BEFREE This report provides evidence that variation of the HTR1A, OTP, and PACAP genes are not responsible for ROHHAD. 21691246 2011