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:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | AP1B1 CL E G H | 162 | 554 | ORPHA:171851 | MEDNIK syndrome | HP:0040282 - Frequent | | | | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | AP1S1 CL E G H | 1174 | 559 | ORPHA:171851 | MEDNIK syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | HP:0040281 - Very frequent | | | 2 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | | | | 2 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0010837 | HP:0010837 | Decreased circulating ceruloplasmin concentration | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |