KPRP, keratinocyte proline rich protein, 448834

N. diseases: 6; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Heterozygous knockout (Kprp<sup>+/-</sup>) mice exhibited reduced KPRP expression to level a similar to that of human AD lesional skin. 30905808 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 Biomarker disease BEFREE By allelic copy number analysis at missense single-nucleotide polymorphisms on 26 genes with copy number variation, we identified a significant association between atopic dermatitis and human KPRP. 30905808 2019
CUI: C0013595
Disease: Eczema
Eczema 		0.010 Biomarker disease BEFREE By allelic copy number analysis at missense single-nucleotide polymorphisms on 26 genes with copy number variation, we identified a significant association between atopic dermatitis and human KPRP. 30905808 2019
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 AlteredExpression disease BEFREE Heterozygous knockout (Kprp<sup>+/-</sup>) mice exhibited reduced KPRP expression to level a similar to that of human AD lesional skin. 30905808 2019
CUI: C1832097
Disease: EPIDERMAL DIFFERENTIATION COMPLEX
EPIDERMAL DIFFERENTIATION COMPLEX 		0.010 Biomarker disease BEFREE We isolated a human gene encoding keratinocyte proline-rich protein (hKPRP). hKPRP gene is located in the region of epidermal differentiation complex on chromosome 1q21, and its approximately 2.5 kb mRNA encodes 579 amino acid protein with high proline content (18%). 16297201 2005