POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.310 AlteredExpression disease BEFREE Family history revealed a sister aged 22 years with cerebral palsy and a healthy 15-year-old brother, who were both severely pigmented with high ACTH levels. 23708259 2013
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.310 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