Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0010765 | HP:0010765 | Palmar hyperkeratosis | 0 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0010765 | Palmar hyperkeratosis | 0 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0010765 | Palmar hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0010765 | Palmar hyperkeratosis | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007508 | Punctate palmar hyperkeratosis | 1 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007508 | Punctate palmar hyperkeratosis | 1 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007508 | Punctate palmar hyperkeratosis | 1 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007508 | Punctate palmar hyperkeratosis | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007613 | Spinous keratoses of palms and soles | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007553 | Congenital symmetrical palmoplantar keratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007545 | Congenital palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007548 | Palmoplantar keratosis with erythema and scale | 2 | KRT6A CL E G H | 3853 | 615726 | Pachyonychia congenita 3 | 615726 | C3714948 | OMIM | 1 | | 93 | 6443 | 148041 |
HP:0010765 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007545 | Congenital palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007548 | Palmoplantar keratosis with erythema and scale | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0000982 | Palmoplantar keratoderma | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007613 | Spinous keratoses of palms and soles | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007553 | Congenital symmetrical palmoplantar keratosis | 2 | NECTIN4 CL E G H | 81607 | 613573 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 | C3150807 | OMIM | 1 | | 49 | 19688 | 609607 |
HP:0010765 | HP:0007545 | Congenital palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007548 | Palmoplantar keratosis with erythema and scale | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0000982 | Palmoplantar keratoderma | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007613 | Spinous keratoses of palms and soles | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007553 | Congenital symmetrical palmoplantar keratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | SMARCAD1 CL E G H | 56916 | 136000 | Adermatoglyphia | 136000 | C1852150 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0010765 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0000982 | Palmoplantar keratoderma | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007613 | Spinous keratoses of palms and soles | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007553 | Congenital symmetrical palmoplantar keratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007545 | Congenital palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010765 | HP:0007548 | Palmoplantar keratosis with erythema and scale | 2 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HPO disease - gene - phenotype less frequent non-typical associations: |