Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0100532 | Scleritis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0000554 | Uveitis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0000491 | Keratitis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0000554 | Uveitis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0000491 | Keratitis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0100532 | Scleritis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0000491 | Keratitis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0000554 | Uveitis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0100532 | Scleritis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0100532 | Scleritis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0100532 | Scleritis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0100532 | Scleritis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0000491 | Keratitis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0000554 | Uveitis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0100532 | Scleritis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0000491 | Keratitis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0000554 | Uveitis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0100532 | Scleritis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0100532 | Scleritis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0000554 | Uveitis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0000491 | Keratitis | 1 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0100532 | Scleritis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0000491 | Keratitis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0000554 | Uveitis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0000491 | Keratitis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0000554 | Uveitis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0100532 | Scleritis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 1 | | 190 | 2505 | 123890 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 64 | 4931 | 142800 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | HLA-B CL E G H | 3106 | 3287 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 1 | | 15 | 4938 | 142880 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 1 | | 15 | 4940 | 142858 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | IL12B CL E G H | 3593 | 3287 | | | | ORPHA | 1 | | 173 | 5970 | 161561 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | MLX CL E G H | 6945 | 3287 | | | | ORPHA | 1 | | 20 | 11645 | 602976 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 1 | | 47 | 9495 | 177020 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0100533 | Inflammatory abnormality of the eye | 0 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0000554 | Uveitis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0000491 | Keratitis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0100532 | Scleritis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0000491 | Keratitis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0000554 | Uveitis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0100532 | Scleritis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0000491 | Keratitis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0000554 | Uveitis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0100532 | Scleritis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0100532 | Scleritis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0000491 | Keratitis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0000554 | Uveitis | 1 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0000491 | Keratitis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0000554 | Uveitis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0100532 | Scleritis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0000491 | Keratitis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0000554 | Uveitis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0100532 | Scleritis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0100532 | Scleritis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0000491 | Keratitis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0000554 | Uveitis | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0000491 | Keratitis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0000554 | Uveitis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0100532 | Scleritis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0000491 | Keratitis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0000554 | Uveitis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0100532 | Scleritis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0000491 | Keratitis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0000554 | Uveitis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0100532 | Scleritis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0100534 | Episcleritis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0000498 | Blepharitis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0000491 | Keratitis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0000554 | Uveitis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0100532 | Scleritis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0000509 | Conjunctivitis | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0012123 | Posterior uveitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0001096 | Keratoconjunctivitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0025610 | Posterior blepharitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0007717 | Chronic irritative conjunctivitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0025609 | Anterior blepharitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0011859 | Punctate keratitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0012122 | Anterior uveitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0012121 | Panuveitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0007879 | Allergic conjunctivitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0007813 | Nongranulomatous uveitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0012124 | Intermediate uveitis | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | CYBA CL E G H | 1535 | 379 | | | | ORPHA | 0 | | 392 | 2577 | 608508 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | CYBB CL E G H | 1536 | 379 | | | | ORPHA | 0 | | 639 | 2578 | 300481 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | CYBC1 CL E G H | 79415 | 379 | | | | ORPHA | 0 | | 110 | 28672 | 0 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | NCF1 CL E G H | 653361 | 379 | | | | ORPHA | 0 | | 99 | 7660 | 608512 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | NCF2 CL E G H | 4688 | 379 | | | | ORPHA | 0 | | 377 | 7661 | 608515 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | NCF4 CL E G H | 4689 | 379 | | | | ORPHA | 0 | | 279 | 7662 | 601488 |
HP:0100533 | HP:0001094 | Iridocyclitis | 3 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0001097 | Keratoconjunctivitis sicca | 3 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0100533 | HP:0500046 | Seborrhoeic blepharitis | 3 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |