Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans
0.300 GermlineCausalMutation disease ORPHANET Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. 26142438 2015