Disease: Cerebrooculofacioskeletal Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 GeneticVariation disease UNIPROT Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 11443545 2001
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 9012405 1997
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 GeneticVariation disease CLINVAR
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 CausalMutation disease CLINVAR