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:0012490 | HP:0012490 | Panniculitis | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | HP:0040281 - Very frequent | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040283 - Occasional | | | 281 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0012490 | HP:0012490 | Panniculitis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |