Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease CLINVAR
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 Biomarker disease CTD_human
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.600 CausalMutation disease CLINVAR
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.600 Biomarker disease CTD_human
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		0.600 CausalMutation disease CLINVAR
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		0.600 Biomarker disease CTD_human
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.430 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.400 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		0.400 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease UNIPROT
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.300 CausalMutation disease CGI
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		0.300 CausalMutation disease CGI