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:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | 169 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 9 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 58 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 3 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002730 | HP:0002730 | Chronic noninfectious lymphadenopathy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040283 - Occasional | | | 129 | | |