Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cerebrooculofacioskeletal Syndrome 1
0.430 GeneticVariation disease BEFREE This study reports two Japanese patients, COFS-05-135 and COFS-Chiba1, who died at ages of <1 year and exhibited typical COFS manifestations caused by XPD mutations p.[I619del];[R666W] and p.[G47R];[I619del], respectively. 25716912 2015
Cerebrooculofacioskeletal Syndrome 1
0.430 GeneticVariation disease BEFREE Determined by the type of XPD mutation, six different clinical entities have been distinguished: XP, XP with neurological symptoms, trichothiodystrophy (TTD), XP⁄TTD complex, XP⁄Cockayne syndrome (CS) complex or the cerebro-oculo-facio-skeletal syndrome (COFS). 23800062 2013
Cerebrooculofacioskeletal Syndrome 1
0.430 GermlineCausalMutation disease ORPHANET Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001
Cerebrooculofacioskeletal Syndrome 1
0.430 GeneticVariation disease BEFREE Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001
Cerebrooculofacioskeletal Syndrome 1
0.430 CausalMutation disease CLINVAR