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:0100560 | HP:0100560 | Upper limb asymmetry | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 4 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 25 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 9 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 6 | | |
HP:0100560 | HP:0100560 | Upper limb asymmetry | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0100560 | HP:0100558 | Hemiatrophy of upper limb | 1 | CL E G H | | | | | | | | | | |
HP:0100560 | HP:0100554 | Hemihypertrophy of upper limb | 1 | CL E G H | | | | | | | | | | |