Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 GermlineCausalMutation disease ORPHANET Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. 18709303 2008
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 Biomarker disease MGD A novel nonsense mutation and polymorphisms in the mouse hairless gene. 15955095 2005
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 Biomarker disease GENOMICS_ENGLAND Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. 10051399 1999
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 Biomarker disease MGD Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene. 9799606 1998
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 CausalMutation disease CLINVAR
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.900 Biomarker disease CTD_human