Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 GeneticVariation BEFREE The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. 26156055

2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989