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:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | | | | 39 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | | | | 86 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | | | | 57 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | | | | | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | | | | 3 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | | | | 36 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0025546 | HP:0025546 | Abnormal mean corpuscular hemoglobin concentration | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | . | | | 36 | | |
HP:0025546 | HP:0025547 | Decreased mean corpuscular hemoglobin concentration | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0025546 | HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |