Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 | | | | 263 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | DST CL E G H | 667 | 1090 | OMIM:615425 | Epidermolysis bullosa simplex, autosomal recessive 2 | | | | 108 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 276 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619594 | EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C | | | | 173 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 54 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 318 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | . | | | 47 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0001810 | HP:0001810 | Dystrophic toenail | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |