"gene-disease association linked with genetic variation"@en

"epidermal growth factor receptor [ncbigene:1956] - Metastatic malignant neoplasm to brain [umls:C0220650] Association [disgenet:DGN0008ee23b0b3a42067c422d407d83d76]"@en

"Association between the gene [ncbigene:1956] and the disease [umls:C0220650] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"epidermal growth factor receptor [ncbigene:1956] - Metastatic malignant neoplasm to brain [umls:C0220650] Association"@en

"disgenet:DGN0008ee23b0b3a42067c422d407d83d76"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"cone-rod homeobox [ncbigene:1406] - LEBER CONGENITAL AMAUROSIS 7 [umls:C3151192] Association [disgenet:DGN0019062a8e5976126e1b97f913e05912]"@en

"Association between the gene [ncbigene:1406] and the disease [umls:C3151192] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"cone-rod homeobox [ncbigene:1406] - LEBER CONGENITAL AMAUROSIS 7 [umls:C3151192] Association"@en

"disgenet:DGN0019062a8e5976126e1b97f913e05912"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"apolipoprotein E [ncbigene:348] - Alzheimer's Disease [umls:C0002395] Association [disgenet:DGN001c4185f9c1608d01bf5b8559057c21]"@en

"Association between the gene [ncbigene:348] and the disease [umls:C0002395] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"apolipoprotein E [ncbigene:348] - Alzheimer's Disease [umls:C0002395] Association"@en

"disgenet:DGN001c4185f9c1608d01bf5b8559057c21"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"crystallin gamma D [ncbigene:1421] - Age-related cataract [umls:C0036646] Association [disgenet:DGN0047408de48823df776be88c10aed4ed]"@en

"Association between the gene [ncbigene:1421] and the disease [umls:C0036646] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"crystallin gamma D [ncbigene:1421] - Age-related cataract [umls:C0036646] Association"@en

"disgenet:DGN0047408de48823df776be88c10aed4ed"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"general transcription factor IIH subunit 1 [ncbigene:2965] - Osteitis Deformans [umls:C0029401] Association [disgenet:DGN0047435889aabadc92ccae8ae6c05441]"@en

"Association between the gene [ncbigene:2965] and the disease [umls:C0029401] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"general transcription factor IIH subunit 1 [ncbigene:2965] - Osteitis Deformans [umls:C0029401] Association"@en

"disgenet:DGN0047435889aabadc92ccae8ae6c05441"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"collagen type IV alpha 5 chain [ncbigene:1287] - Alport Syndrome, X-Linked [umls:C1567742] Association [disgenet:DGN004cfb66bab59759a7576447d0cc82da]"@en

"Association between the gene [ncbigene:1287] and the disease [umls:C1567742] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"collagen type IV alpha 5 chain [ncbigene:1287] - Alport Syndrome, X-Linked [umls:C1567742] Association"@en

"disgenet:DGN004cfb66bab59759a7576447d0cc82da"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"apolipoprotein E [ncbigene:348] - Liver diseases [umls:C0023895] Association [disgenet:DGN005746a4774a4db86a79e83e854195f3]"@en

"Association between the gene [ncbigene:348] and the disease [umls:C0023895] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"apolipoprotein E [ncbigene:348] - Liver diseases [umls:C0023895] Association"@en

"disgenet:DGN005746a4774a4db86a79e83e854195f3"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"epidermal growth factor receptor [ncbigene:1956] - Glioma [umls:C0017638] Association [disgenet:DGN006ea501218431952fef5f05c2184030]"@en

"Association between the gene [ncbigene:1956] and the disease [umls:C0017638] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"epidermal growth factor receptor [ncbigene:1956] - Glioma [umls:C0017638] Association"@en

"disgenet:DGN006ea501218431952fef5f05c2184030"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"NPC intracellular cholesterol transporter 2 [ncbigene:10577] - Progressive supranuclear palsy [umls:C0038868] Association [disgenet:DGN007f77a85e575be5955dfaf5200f0524]"@en

"Association between the gene [ncbigene:10577] and the disease [umls:C0038868] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"NPC intracellular cholesterol transporter 2 [ncbigene:10577] - Progressive supranuclear palsy [umls:C0038868] Association"@en

"disgenet:DGN007f77a85e575be5955dfaf5200f0524"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"complement C3 [ncbigene:718] - Arteriosclerosis [umls:C0003850] Association [disgenet:DGN009543a7d4782cfe9d8b5bf282189409]"@en

"Association between the gene [ncbigene:718] and the disease [umls:C0003850] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"complement C3 [ncbigene:718] - Arteriosclerosis [umls:C0003850] Association"@en

"disgenet:DGN009543a7d4782cfe9d8b5bf282189409"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"steroid 5 alpha-reductase 2 [ncbigene:6716] - Metastasis from malignant tumor of prostate [umls:C1282496] Association [disgenet:DGN00981741058f5dc323d6f6890096a3a3]"@en

"Association between the gene [ncbigene:6716] and the disease [umls:C1282496] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"steroid 5 alpha-reductase 2 [ncbigene:6716] - Metastasis from malignant tumor of prostate [umls:C1282496] Association"@en

"disgenet:DGN00981741058f5dc323d6f6890096a3a3"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"laminin subunit alpha 2 [ncbigene:3908] - Respiratory Failure [umls:C1145670] Association [disgenet:DGN00a287e88f820987f3c8cab684d15122]"@en

"Association between the gene [ncbigene:3908] and the disease [umls:C1145670] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"laminin subunit alpha 2 [ncbigene:3908] - Respiratory Failure [umls:C1145670] Association"@en

"disgenet:DGN00a287e88f820987f3c8cab684d15122"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"chloride voltage-gated channel 7 [ncbigene:1186] - Osteopetrosis [umls:C0029454] Association [disgenet:DGN00d03531e47d2238d7b48362cc398608]"@en

"Association between the gene [ncbigene:1186] and the disease [umls:C0029454] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"chloride voltage-gated channel 7 [ncbigene:1186] - Osteopetrosis [umls:C0029454] Association"@en

"disgenet:DGN00d03531e47d2238d7b48362cc398608"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"dynactin subunit 1 [ncbigene:1639] - Motor Neuron Disease [umls:C0085084] Association [disgenet:DGN00da4af90a98e4cb879f9c47c15aa98d]"@en

"Association between the gene [ncbigene:1639] and the disease [umls:C0085084] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"dynactin subunit 1 [ncbigene:1639] - Motor Neuron Disease [umls:C0085084] Association"@en

"disgenet:DGN00da4af90a98e4cb879f9c47c15aa98d"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"fibroblast growth factor receptor 2 [ncbigene:2263] - Antley-Bixler Syndrome, Autosomal Dominant [umls:C2936791] Association [disgenet:DGN0111aaa36b14f679be4cc2e29391b59e]"@en

"Association between the gene [ncbigene:2263] and the disease [umls:C2936791] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"fibroblast growth factor receptor 2 [ncbigene:2263] - Antley-Bixler Syndrome, Autosomal Dominant [umls:C2936791] Association"@en

"disgenet:DGN0111aaa36b14f679be4cc2e29391b59e"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"plasminogen [ncbigene:5340] - Plasminogen Deficiency, Type I [umls:C1968804] Association [disgenet:DGN011c28da1a4377c339a903b9e5d4faf9]"@en

"Association between the gene [ncbigene:5340] and the disease [umls:C1968804] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"plasminogen [ncbigene:5340] - Plasminogen Deficiency, Type I [umls:C1968804] Association"@en

"disgenet:DGN011c28da1a4377c339a903b9e5d4faf9"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"mutL homolog 1 [ncbigene:4292] - Endometrial Carcinoma [umls:C0476089] Association [disgenet:DGN01258405fd8ffcaba5b48c389ca1b853]"@en

"Association between the gene [ncbigene:4292] and the disease [umls:C0476089] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"mutL homolog 1 [ncbigene:4292] - Endometrial Carcinoma [umls:C0476089] Association"@en

"disgenet:DGN01258405fd8ffcaba5b48c389ca1b853"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"cannabinoid receptor 1 [ncbigene:1268] - Cognition Disorders [umls:C0009241] Association [disgenet:DGN014beacef4d758e2da57c3028fe16366]"@en

"Association between the gene [ncbigene:1268] and the disease [umls:C0009241] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"cannabinoid receptor 1 [ncbigene:1268] - Cognition Disorders [umls:C0009241] Association"@en

"disgenet:DGN014beacef4d758e2da57c3028fe16366"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"ASXL transcriptional regulator 1 [ncbigene:171023] - Bohring syndrome [umls:C0796232] Association [disgenet:DGN0172de0556c67ac05ee061ee393fee48]"@en

"Association between the gene [ncbigene:171023] and the disease [umls:C0796232] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"ASXL transcriptional regulator 1 [ncbigene:171023] - Bohring syndrome [umls:C0796232] Association"@en

"disgenet:DGN0172de0556c67ac05ee061ee393fee48"^^<http://www.w3.org/2001/XMLSchema#string>

"gene-disease association linked with genetic variation"@en

"BRCA2 DNA repair associated [ncbigene:675] - Malignant neoplasm of breast [umls:C0006142] Association [disgenet:DGN017d86be0f6c4d2af5b853914c679707]"@en

"Association between the gene [ncbigene:675] and the disease [umls:C0006142] integrated into DisGeNET. Gene-disease associations are identified by the DisGeNET ID."@en

"BRCA2 DNA repair associated [ncbigene:675] - Malignant neoplasm of breast [umls:C0006142] Association"@en

"disgenet:DGN017d86be0f6c4d2af5b853914c679707"^^<http://www.w3.org/2001/XMLSchema#string>