FLII, FLII actin remodeling protein, 2314

N. diseases: 198; N. variants: 1
Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.300 GeneticVariation disease ORPHANET We present two patients with SMS who have interstitial deletions at 17p11.2 but are not deleted for currently available commercial FISH probes that include FLII; both patients have deletions that are demonstrated with probes containing the RAI1 gene. 15690371 2005
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.300 GeneticVariation disease ORPHANET The homologous human FLII gene encodes a 1269-residue protein with 58% amino acid sequence identity and is deleted in Smith-Magenis syndrome. 9177775 1997
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.300 GeneticVariation disease ORPHANET The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. 7825574 1995