KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264000
Disease: Knuckle pads
Knuckle pads
0.040 Biomarker disease BEFREE We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated. 21715251 2012
CUI: C0264000
Disease: Knuckle pads
Knuckle pads
0.040 GeneticVariation disease BEFREE We summarize the clinical symptoms of EPPK in Chinese and show that knuckle pads are associated with KRT9 mutations. 22262370 2012
CUI: C0264000
Disease: Knuckle pads
Knuckle pads
0.040 GeneticVariation disease BEFREE Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. 17362238 2009
CUI: C0264000
Disease: Knuckle pads
Knuckle pads
0.040 GeneticVariation disease BEFREE A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. 12838553 2003