KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR The IC3D classification of the corneal dystrophies. 19337156 2008