eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| palmoplantar keratosis | ||||
| Disease ID | 1364 |
|---|---|
| Disease | palmoplantar keratosis |
| Definition | Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). |
| Synonym | et keratoderma palmaris plantaris hyperkeratosis of palms and soles hyperkeratosis of the palms and soles hyperkeratosis palmaris et plantaris keratoderma palmaris et plantaris keratoderma palmoplantar keratoderma, palmoplantar keratoderma, palmoplantar [disease/finding] keratodermas, palmoplantar keratoses, palmoplantar keratosis palmaris et plantaris (disorder) keratosis, palmoplantar palmar and plantar keratoderma palmoplantar hyperkeratosis palmoplantar keratoderma palmoplantar keratoderma (disorder) palmoplantar keratodermas palmoplantar keratoses thick palms and soles thickened palms and soles |
| DOID | |
| UMLS | C0022596 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0014859 | esophageal cancer | 2 C0878544 | cardiomyopathy | 2 C0010674 | cystic fibrosis | 2 C0031099 | periodontitis | 2 C0265334 | pachyonychia congenita | 2 C0031106 | early-onset periodontitis | 2 C0040259 | tinea pedis | 1 C0870082 | hyperkeratosis | 1 C0546837 | oesophageal cancer | 1 C0013338 | growth hormone deficiency | 1 C0155550 | neural deafness | 1 C0018784 | sensorineural deafness | 1 C0079153 | epidermolytic hyperkeratosis | 1 C0014527 | epidermolysis bullosa | 1 C0022584 | tylosis | 1 C0022593 | keratosis | 1 C0022595 | keratosis follicularis | 1 C0017574 | gingivitis | 1 C0036920 | sezary syndrome | 1 C0020757 | ichthyosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:32) 3728 | JUP | UniProtKB-KW 284654 | RSPO1 | UniProtKB-KW 831 | CAST | UniProtKB-KW 3848 | KRT1 | UniProtKB-KW 3868 | KRT16 | UniProtKB-KW 362 | AQP5 | UniProtKB-KW 2706 | GJB2 | CTD_human;UniProtKB-KW 2697 | GJA1 | UniProtKB-KW 51371 | POMP | UniProtKB-KW 1832 | DSP | UniProtKB-KW 6898 | TAT | UniProtKB-KW 3857 | KRT9 | UniProtKB-KW 10804 | GJB6 | UniProtKB-KW 9342 | SNAP29 | UniProtKB-KW 2707 | GJB3 | UniProtKB-KW 3853 | KRT6A | UniProtKB-KW 3854 | KRT6B | UniProtKB-KW 286887 | KRT6C | UniProtKB-KW 80326 | WNT10A | UniProtKB-KW 3872 | KRT17 | UniProtKB-KW 4014 | LOR | UniProtKB-KW 1828 | DSG1 | UniProtKB-KW 1075 | CTSC | UniProtKB-KW 51360 | MBTPS2 | UniProtKB-KW 162514 | TRPV3 | UniProtKB-KW 127534 | GJB4 | UniProtKB-KW 79651 | RHBDF2 | UniProtKB-KW 57152 | SLURP1 | CTD_human;UniProtKB-KW 8710 | SERPINB7 | UniProtKB-KW 3861 | KRT14 | UniProtKB-KW 79719 | AAGAB | CTD_human;UniProtKB-KW 25959 | KANK2 | UniProtKB-KW |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:74) 224 | ALDH3A2 | 1.147 | DISEASES 247 | ALOX15B | 1.46 | DISEASES 1174 | AP1S1 | 2.259 | DISEASES 488 | ATP2A2 | 2.951 | DISEASES 820 | CAMP | 1.475 | DISEASES 79092 | CARD14 | 1.58 | DISEASES 64170 | CARD9 | 1.3 | DISEASES 6349 | CCL3L1 | 1.781 | DISEASES 1137 | CHRNA4 | 1.426 | DISEASES 1650 | DDOST | 1.689 | DISEASES 8632 | DNAH17 | 3.348 | DISEASES 81704 | DOCK8 | 1.214 | DISEASES 1825 | DSC3 | 2.899 | DISEASES 147409 | DSG4 | 2.364 | DISEASES 1832 | DSP | 5.579 | DISEASES 2312 | FLG | 2.502 | DISEASES 2316 | FLNA | 1.464 | DISEASES 8811 | GALR2 | 1.446 | DISEASES 2701 | GJA4 | 1.14 | DISEASES 2706 | GJB2 | 5.366 | DISEASES 2707 | GJB3 | 4.856 | DISEASES 127534 | GJB4 | 4.2 | DISEASES 349149 | GJC3 | 2.251 | DISEASES 80318 | GKAP1 | 3.369 | DISEASES 29841 | GRHL1 | 2.126 | DISEASES 9931 | HELZ | 2.113 | DISEASES 283987 | HID1 | 3.265 | DISEASES 9953 | HS3ST3B1 | 2.608 | DISEASES 3713 | IVL | 2.39 | DISEASES 57158 | JPH2 | 1.302 | DISEASES 25959 | KANK2 | 3.033 | DISEASES 9314 | KLF4 | 1.081 | DISEASES 5650 | KLK7 | 1.081 | DISEASES 11202 | KLK8 | 1.18 | DISEASES 3853 | KRT6A | 5.491 | DISEASES 5641 | LGMN | 1.318 | DISEASES 59352 | LGR6 | 2.183 | DISEASES 4014 | LOR | 4.943 | DISEASES 10161 | LPAR6 | 1.944 | DISEASES 4047 | LSS | 1.351 | DISEASES 66004 | LYNX1 | 3.894 | DISEASES 137797 | LYPD2 | 3.541 | DISEASES 284348 | LYPD5 | 4.099 | DISEASES 7867 | MAPKAPK3 | 1.912 | DISEASES 51360 | MBTPS2 | 2.914 | DISEASES 26151 | NAT9 | 2.229 | DISEASES 4799 | NFX1 | 2.623 | DISEASES 123606 | NIPA1 | 1.539 | DISEASES 58484 | NLRC4 | 1.744 | DISEASES 4886 | NPY1R | 1.151 | DISEASES 4889 | NPY5R | 1.812 | DISEASES 5125 | PCSK5 | 1.543 | DISEASES 84720 | PIGO | 2.525 | DISEASES 5329 | PLAUR | 3.862 | DISEASES 5333 | PLCD1 | 2.858 | DISEASES 5339 | PLEC | 1.663 | DISEASES 285848 | PNPLA1 | 2.226 | DISEASES 51371 | POMP | 2.752 | DISEASES 8559 | PRPF18 | 3.075 | DISEASES 5916 | RARG | 1.433 | DISEASES 79651 | RHBDF2 | 5.278 | DISEASES 284654 | RSPO1 | 2.357 | DISEASES 23328 | SASH1 | 1.941 | DISEASES 6303 | SAT1 | 3.34 | DISEASES 6397 | SEC14L1 | 2.703 | DISEASES 8710 | SERPINB7 | 5.638 | DISEASES 23451 | SF3B1 | 2.006 | DISEASES 8036 | SHOC2 | 1.451 | DISEASES 11005 | SPINK5 | 2.365 | DISEASES 6898 | TAT | 3.514 | DISEASES 7124 | TNF | 1.155 | DISEASES 162514 | TRPV3 | 4.26 | DISEASES 7390 | UROS | 1.044 | DISEASES 26276 | VPS33B | 1.773 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1364 |
|---|---|
| Disease | palmoplantar keratosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0000365 | Hearing impairment | 5 HP:0010783 | Erythema | 3 HP:0002224 | Woolly hair | 2 HP:0012245 | Sex reversal | 2 HP:0001638 | Cardiomyopathy | 2 HP:0000704 | Pyorrhea | 2 HP:0007410 | Excessive sweating of palms and soles | 1 HP:0000230 | Inflamed gums | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0008064 | Ichthyosis | 1 HP:0008066 | Skin bullae | 1 HP:0012531 | Pain | 1 HP:0000164 | Abnormality of the teeth | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0000975 | Increased sweating | 1 HP:0006480 | Premature loss of teeth | 1 HP:0001019 | Exfoliative dermititis | 1 HP:0200037 | Skin vesicle | 1 HP:0000824 | Growth hormone deficiency | 1 HP:0007475 | Epidermolytic hyperkeratosis | 1 HP:0000962 | Hyperkeratosis | 1 |
| Disease ID | 1364 |
|---|---|
| Disease | palmoplantar keratosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:37) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894401 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189154 | C | T |
| rs104894401 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189154 | C | T |
| rs104894401 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189154 | C | T |
| rs104894402 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189359 | G | A |
| rs104894402 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189359 | G | A |
| rs104894402 | 20583176 | 2706 | GJB2 | umls:C0022596 | BeFree | Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. | 0.132701686 | 2010 | GJB2 | 13 | 20189359 | G | A |
| rs104894402 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189359 | G | A |
| rs104894404 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189406 | C | T,G |
| rs104894404 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189406 | C | T,G |
| rs104894404 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189406 | C | T,G |
| rs104894406 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20188977 | C | A |
| rs104894406 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20188977 | C | A |
| rs104894406 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20188977 | C | A |
| rs104894407 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189450 | C | T,G |
| rs104894407 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189450 | C | T,G |
| rs104894407 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189450 | C | T,G |
| rs104894413 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189451 | C | T,G |
| rs104894413 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189451 | C | T,G |
| rs104894413 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189451 | C | T,G |
| rs201783640 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB6 | 13 | 20223053 | C | T |
| rs201783640 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB6 | 13 | 20223053 | C | T |
| rs28931593 | 20583176 | 2706 | GJB2 | umls:C0022596 | BeFree | Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. | 0.132701686 | 2010 | GJB2 | 13 | 20189358 | C | T |
| rs28931593 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189358 | C | T |
| rs28931593 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189358 | C | T |
| rs28931593 | 12372058 | 2706 | GJB2 | umls:C0022596 | BeFree | The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. | 0.132701686 | 2002 | GJB2 | 13 | 20189358 | C | T |
| rs28931593 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189358 | C | T |
| rs28931593 | 24975403 | 2706 | GJB2 | umls:C0022596 | BeFree | R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma. | 0.132701686 | 2014 | GJB2 | 13 | 20189358 | C | T |
| rs28931595 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189047 | C | T,A |
| rs28931595 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189047 | C | T,A |
| rs28931595 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189047 | C | T,A |
| rs57499817 | 16417221 | 3852 | KRT5 | umls:C0022596 | BeFree | Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). | 0.000271442 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 16417221 | 3848 | KRT1 | umls:C0022596 | BeFree | Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). | 0.003257302 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs59616921 | 19106041 | 3857 | KRT9 | umls:C0022596 | BeFree | Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. | 0.014154703 | 2009 | KRT9 | 17 | 41571506 | G | A |
| rs59616921 | 10536990 | 3857 | KRT9 | umls:C0022596 | BeFree | R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features. | 0.014154703 | 1999 | KRT9 | 17 | 41571506 | G | A |
| rs80338950 | 21040787 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). | 0.132701686 | 2011 | GJB2 | 13 | 20189031 | C | T,G |
| rs80338950 | 20096356 | 10804 | GJB6 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.000542884 | 2010 | GJB2 | 13 | 20189031 | C | T,G |
| rs80338950 | 20096356 | 2706 | GJB2 | umls:C0022596 | BeFree | HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). | 0.132701686 | 2010 | GJB2 | 13 | 20189031 | C | T,G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1364 |
|---|---|
| Disease | palmoplantar keratosis |
| Case | (Waiting for update.) |