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:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | HP:0040283 - Occasional | | | 20 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | DUT CL E G H | 1854 | 3078 | OMIM:620044 | | | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 29 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040284 - Very rare | | | 580 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040282 - Frequent | | | 88 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 11 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 40 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 5 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 42 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:252270 | Myelodysplasia and leukemia syndrome with monosomy 7 | . | | | 4 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0005518 | HP:0005518 | Increased mean corpuscular volume | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |