DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Skin Fragility-Woolly Hair Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931610
rs28931610
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		0.700 GeneticVariation UNIPROT Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 11841538 2002