Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 GeneticVariation disease UNIPROT Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 Biomarker disease CTD_human
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 CausalMutation disease CLINVAR
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.510 GermlineCausalMutation disease ORPHANET Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65. 24094744 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.510 GeneticVariation disease BEFREE Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65. 24094744 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 Biomarker disease BEFREE Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 Biomarker group HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018520
Disease: Halitosis
Halitosis 		0.100 Biomarker phenotype HPO