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:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | CYP26C1 CL E G H | 340665 | 20577 | ORPHA:398189 | Focal facial dermal dysplasia type IV | HP:0040282 - Frequent | | | 2 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 45 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 63 | | |
HP:0025167 | HP:0025167 | Fragmented elastic fibers in the dermis | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | | | |