Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Hypertrophic cardiomyopathy during corticotropin therapy for infantile spasms. A clinical and echocardiographic study. 8381257 1993
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human [Hypertrophic myocardiopathy during the corticotropin treatment of infantile spasms]. 8928979 1996
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human [Hypertrophic myocardiopathy during the corticotropin treatment of infantile spasms]. 8928979 1996
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human Given the very poor prognosis of infantile spasms especially in such conditions as cerebral palsy, the combination of ACTH and vigabatrin appears to be an interesting therapy advance with very few side effects. 8980841 1997
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Given the very poor prognosis of infantile spasms especially in such conditions as cerebral palsy, the combination of ACTH and vigabatrin appears to be an interesting therapy advance with very few side effects. 8980841 1997
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human Images in cardiology. Enlargement of cardiac rhabdomyoma and myocardial ischaemia during corticotropin treatment for infantile spasm. 10908253 2000
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Images in cardiology. Enlargement of cardiac rhabdomyoma and myocardial ischaemia during corticotropin treatment for infantile spasm. 10908253 2000
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human The CSF levels of beta-EP and ACTH were significantly lower in patients with IS than those in the controls. 11341487 2001
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human The CSF levels of beta-EP and ACTH were significantly lower in patients with IS than those in the controls. 11341487 2001
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE Adrenocorticotropic hormone (ACTH) was a treatment of choice, and even in relapse of WS after ACTH therapy, the patients well responded to antiepileptic drugs. 11701255 2001
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 AlteredExpression disease BEFREE These results suggest that ACTH(1-24) administrated in West syndrome may influence the expression of neurotrophic factors in astrocytes in vivo. 12438675 2002
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE At age 6 months, the infant demonstrated infantile spasms and craniosynostosis and was operated on for craniosynostosis and treated with adrenocorticotropic hormone (ACTH) for the infantile spasms. 14636357 2003
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human Cardiac vagal activation by adrenocorticotropic hormone treatment in infants with West syndrome. 17287597 2007
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Cardiac vagal activation by adrenocorticotropic hormone treatment in infants with West syndrome. 17287597 2007
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Pediatricians should be aware that cardiac dysfunction could be associated with ACTH therapy for West syndrome. 19039989 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human Pediatricians should be aware that cardiac dysfunction could be associated with ACTH therapy for West syndrome. 19039989 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 GeneticVariation disease BEFREE This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. 19024088 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE The patient's spasms and hypsarrhythmia disappeared after a course of adrenocorticotropic hormone therapy, but focal seizures reappeared at the age of 3 years and 3 months. 19264735 2009
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Therapeutic disease CTD_human Vigabatrin and ACTH showed no significant difference in the initial treatment of infantile spasms. 20078871 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE Thus, it may be a candidate gene to be tested for responsiveness to ACTH in infantile spasms. 20722663 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). 20042918 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease CTD_human Vigabatrin and ACTH showed no significant difference in the initial treatment of infantile spasms. 20078871 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 GeneticVariation disease BEFREE In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated. 23775678 2013
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE In addition, we also found that a 4-SNP haplotype (CAGC) which contains the aforementioned 2 SNPs, was associated with increased responsiveness to ACTH therapy in IS (p = 0.018, OR = 4.8) under recessive model. 25268096 2014
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.400 Biomarker disease BEFREE Adrenocorticotropic hormone (ACTH) therapy is the first-line therapy for infantile spasms, and is effective for many other intractable epilepsies. 25149137 2015