Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 GeneticVariation UNIPROT Additionally, the beta-catenin mutation in matrix cells of the HF stabilizes beta-catenin protein, which translocates into the nucleus, where it activates of gene transcription together with lymphoid enhancer factor-1 producing pilomatrixoma. 11703283

2001
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 GeneticVariation UNIPROT Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations. 10192393

1999