CDSN, corneodesmosin, 1041

N. diseases: 101; N. variants: 46
Disease: Hypotrichosis Simplex of Scalp ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		0.700 Biomarker disease GENOMICS_ENGLAND [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 22875505 2012
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		0.700 GermlineCausalMutation disease ORPHANET Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. 12754508 2003
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		0.700 Biomarker disease CTD_human
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		0.700 CausalMutation disease CLINVAR