POU2F1, POU class 2 homeobox 1, 5451

N. diseases: 115; N. variants: 7
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 AlteredExpression disease BEFREE OCT1 (SLC22A1) and OCT3 (SLC22A3) mRNA expression was measured in primary human CCA by real-time PCR (n=27). 23440379 2013