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:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | GPX1 CL E G H | 2876 | 4553 | OMIM:614164 | Glutathione peroxidase deficiency | . | | | 1 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0003265 | HP:0003265 | Neonatal hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | HP:0040281 - Very frequent | | | 73 | | |