Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease CTD_human
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 CausalMutation disease CLINVAR
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 CausalMutation disease CLINVAR
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 Biomarker disease CTD_human
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.520 Biomarker disease CTD_human
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 Biomarker disease HPO
CUI: C3553785
Disease: WEILL-MARCHESANI SYNDROME 3
WEILL-MARCHESANI SYNDROME 3 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease HPO
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease HPO
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.410 CausalMutation disease CLINVAR
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		0.300 Biomarker disease CTD_human
CUI: C1869114
Disease: Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Recessive 		0.300 Biomarker disease CTD_human
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.300 Biomarker disease CTD_human
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.150 Biomarker disease HPO
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.120 GeneticVariation disease CLINVAR
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.120 Biomarker disease HPO
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.110 GeneticVariation disease CLINVAR
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO