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:0012740 | HP:0012740 | Papilloma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 4 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 9 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 6 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 7 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 3 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 5 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | | | | 102 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 43 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | | | | 4 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | | | | 2 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 10 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TMC6 CL E G H | 11322 | 18021 | OMIM:226400 | Epidermodysplasia verruciformis, susceptibility to, 1 | | | | 10 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 4 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TMC8 CL E G H | 147138 | 20474 | OMIM:618231 | EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2 | | | | 4 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:2807 | Papilloma of choroid plexus | | | | 911 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | . | | | 911 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0012740 | HP:0012740 | Papilloma | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0012740 | HP:0031021 | Squamous Papilloma | 1 | CL E G H | | | | | | | | | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040282 - Frequent | | | 86 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 6 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | | | | 9 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040282 - Frequent | | | 14 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | | | | 137 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 7 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040281 - Very frequent | | | 52 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0012740 | HP:0200022 | Choroid plexus papilloma | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | HP:0040283 - Occasional | | | 102 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 43 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 10 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | TMC6 CL E G H | 11322 | 18021 | OMIM:226400 | Epidermodysplasia verruciformis, susceptibility to, 1 | . | | | 10 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 4 | | |
HP:0012740 | HP:0200043 | Verrucae | 1 | TMC8 CL E G H | 147138 | 20474 | OMIM:618231 | EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2 | | | | 4 | | |
HP:0012740 | HP:0200022 | Choroid plexus papilloma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | . | | | 911 | | |
HP:0012740 | HP:0200022 | Choroid plexus papilloma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:2807 | Papilloma of choroid plexus | HP:0040281 - Very frequent | | | 911 | | |
HP:0012740 | HP:0040167 | Facial papilloma | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0012740 | HP:0031022 | Oropharyngeal squamous papilloma | 2 | CL E G H | | | | | | | | | | |
HP:0012740 | HP:0032301 | Genital warts | 2 | CL E G H | | | | | | | | | | |
HP:0012740 | HP:0032215 | Disseminated cutaneous warts | 2 | CD4 CL E G H | 920 | 1678 | OMIM:619238 | IMMUNODEFICIENCY 79; IMD79 | | | | 1 | | |
HP:0012740 | HP:0550004 | Verruca plana | 2 | TMC8 CL E G H | 147138 | 20474 | OMIM:618231 | EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2 | | | | 4 | | |