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:0025114 | HP:0025114 | Hypergranulosis | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040282 - Frequent | | | 7 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040281 - Very frequent | | | 86 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | . | | | 5 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | . | | | 16 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | . | | | 151 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | . | | | 68 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | . | | | 74 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | . | | | 1 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | LORICRIN CL E G H | 4014 | 6663 | OMIM:604117 | Vohwinkel syndrome, variant form | . | | | | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:615696 | Dowling-Degos disease 4 | . | | | 6 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | . | | | 2 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | SERPINB7 CL E G H | 8710 | 13902 | OMIM:615598 | Palmoplantar keratoderma, Nagashima type | . | | | 4 | | |
HP:0025114 | HP:0025114 | Hypergranulosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |