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:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040283 - Occasional | | | 1 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300636 | Immunodeficiency 33 | | | | 52 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040281 - Very frequent | | | 150 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0003261 | HP:0003261 | Increased circulating IgA level | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0003261 | HP:0032335 | Monoclonal elevation of circulating IgA | 1 | CL E G H | | | | | | | | | | |
HP:0003261 | HP:0032334 | Oligoclonal elevation of circulating IgA | 1 | CL E G H | | | | | | | | | | |
HP:0003261 | HP:0032333 | Polyclonal elevation of circulating IgA | 1 | CL E G H | | | | | | | | | | |