Disease: Hypotrichosis simplex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GeneticVariation disease BEFREE Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.310 GermlineCausalMutation disease ORPHANET Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013