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:0001528 | HP:0001528 | Hemihypertrophy | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | HP:0040280 - Obligate | | | 12 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | . | | | 12 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:1309 | Medullary sponge kidney | HP:0040283 - Occasional | | | 90 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:613089 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | HP:0040284 - Very rare | | | 162 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | HP:0040280 - Obligate | | | 162 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0001528 | HP:0001528 | Hemihypertrophy | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001528 | HP:0100554 | Hemihypertrophy of upper limb | 1 | CL E G H | | | | | | | | | | |
HP:0001528 | HP:0100553 | Hemihypertrophy of lower limb | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040282 - Frequent | | | 88 | | |