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:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040282 - Frequent | | | 62 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040281 - Very frequent | | | 351 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | KHK CL E G H | 3795 | 6315 | ORPHA:2056 | Essential fructosuria | HP:0040281 - Very frequent | | | 49 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040280 - Obligate | | | 46 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040281 - Very frequent | | | 49 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL15 CL E G H | 6138 | 10306 | OMIM:615550 | Diamond-Blackfan anemia 12 | | | | 3 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS29 CL E G H | 6235 | 10419 | OMIM:615909 | Diamond-Blackfan anemia 13 | | | | 3 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0030272 | HP:0030272 | Abnormal erythrocyte enzyme level | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0030272 | HP:0030273 | Reduced red cell adenosine deaminase level | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 29 | | |
HP:0030272 | HP:0025109 | Reduced red cell pyruvate kinase level | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0030272 | HP:0025109 | Reduced red cell pyruvate kinase level | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL15 CL E G H | 6138 | 10306 | OMIM:615550 | Diamond-Blackfan anemia 12 | . | | | 3 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 11 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 40 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 26 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 5 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 42 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS29 CL E G H | 6235 | 10419 | OMIM:615909 | Diamond-Blackfan anemia 13 | . | | | 3 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0030272 | HP:0030270 | Elevated red cell adenosine deaminase level | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |