COL18A1, collagen type XVIII alpha 1 chain, 80781

N. diseases: 323; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease CTD_human
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 GeneticVariation disease CLINVAR
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease CTD_human
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 GeneticVariation disease CLINVAR
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.410 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.400 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.400 GeneticVariation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.140 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.120 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.110 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.110 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.110 Biomarker phenotype HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 Biomarker disease HPO