Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 GeneticVariation disease UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 GeneticVariation disease CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 GeneticVariation disease UNIPROT First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 CausalMutation disease CLINVAR
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		0.700 Biomarker disease CTD_human