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:0000980 | HP:0000980 | Pallor | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040282 - Frequent | | | 245 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | HP:0040281 - Very frequent | | | 72 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 385 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:71518 | Benign paroxysmal torticollis of infancy | HP:0040282 - Frequent | | | 449 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | 75 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 273 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 172 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 44 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 186 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 112 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | . | | | 6 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | 134 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | 57 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | 139 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 29 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 200 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040281 - Very frequent | | | 88 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040282 - Frequent | | | 580 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:616544 | Retinitis pigmentosa 73 | . | | | 86 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617871 | Retinitis pigmentosa 81 | . | | | 11 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040282 - Frequent | | | 528 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 42 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:612943 | Retinitis pigmentosa 42 | . | | | 42 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MMADHC CL E G H | 27249 | 25221 | ORPHA:79283 | Methylmalonic acidemia with homocystinuria, type cblD | HP:0040281 - Very frequent | | | 50 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040282 - Frequent | | | 9 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 4 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040283 - Occasional | | | 7 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PRPF4 CL E G H | 9128 | 17349 | OMIM:615922 | Retinitis pigmentosa 70 | . | | | 2 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PRPF6 CL E G H | 24148 | 15860 | OMIM:613983 | Retinitis pigmentosa 60 | . | | | 51 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | . | | | 52 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 11 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 40 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 5 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 42 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 19 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040282 - Frequent | | | 255 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | . | | | 109 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | | | | 504 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | . | | | 23 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TMPRSS6 CL E G H | 164656 | 16517 | ORPHA:209981 | IRIDA syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | . | | | 28 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040282 - Frequent | | | 15 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | . | | | 95 | | |
HP:0000980 | HP:0000980 | Pallor | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0000980 | HP:0001017 | Anemic pallor | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |