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:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | . | | | 27 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:606963 | Pulmonary disease, chronic obstructive | . | | | 3 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:606963 | Pulmonary disease, chronic obstructive | . | | | 6 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | . | | | 131 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0006510 | HP:0006510 | Chronic pulmonary obstruction | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |