Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002102 | HP:0002102 | Pleuritis | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040282 - Frequent | | | 281 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0002102 | HP:0002102 | Pleuritis | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |