Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11
0.600 GeneticVariation disease UNIPROT Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11
0.600 Biomarker disease GENOMICS_ENGLAND Hereditary hypotrichosis simplex. 9621144 1998
CUI: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11
0.600 CausalMutation disease CLINVAR