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ONTOLOGY REPORT - ANNOTATIONS


Term:keratosis
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Accession:DOID:161 term browser browse the term
Definition:Any horny growth such as a wart or callus.
Synonyms:exact_synonym: Keratoderma Blennorrhagicum;   Keratoderma Blennorrhagicums;   Keratoma;   Keratomas;   Keratoses;   Keratosis Blennorrhagica;   Keratosis Blennorrhagicas
 primary_id: MESH:D007642;   RDO:0000664
For additional species annotation, visit the Alliance of Genome Resources.


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keratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9479152
RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488960
G Keap1 Kelch-like ECH-associated protein 1 JBrowse link 8 22,250,518 22,259,868 RGD:11554173
G Mpo myeloperoxidase JBrowse link 10 75,087,892 75,098,260 RGD:9479152
RGD:11554173
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
acrokeratosis verruciformis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
RGD:7240710
actinic keratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:9491831
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7394827
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7364809
RGD:8554872
RGD:7364885
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364811
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:1599417
RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:8554872
RGD:11554173
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link 7 13,938,376 13,944,286 RGD:8554872
RGD:11554173
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 7 71,152,366 71,169,510 RGD:8554872
RGD:13592920
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
RGD:13592920
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:7240710
RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:7240710
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:13592920
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 1 127,706,618 127,781,041 RGD:7240710
RGD:8554872
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:7364821
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
cholesteatoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8547969
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7401205
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401205
RGD:7401208
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657059
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8657059
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661722
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7800662
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7800662
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547969
cholesteatoma of middle ear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661795
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8547968
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:8694474
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547586
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7794712
RGD:11059515
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:8662931
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662931
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829727
RGD:7364848
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7794712
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8547870
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547870
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:8552995
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552995
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:8552995
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7364848
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547787
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547968
Cholesteatoma, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661795
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:7240710
RGD:8554872
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:7240710
RGD:8554872
congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:8554872
Congenital Ichthyosiform Erythroderma, Reticular term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
RGD:8554872
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
Darier Disease, Segmental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:1600065
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp5 aquaporin 5 JBrowse link 7 141,249,044 141,252,576 RGD:7240710
RGD:8554872
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:1600166
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:1600168
RGD:8554872
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:7240710
RGD:8554872
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:8554872
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:11568612
RGD:7240710
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:1578480
RGD:8554872
RGD:11251416
RGD:12437067
RGD:12436734
RGD:11097171
RGD:12436731
RGD:12436729
RGD:12050153
RGD:11554173
RGD:7240710
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:1598970
RGD:8554872
RGD:12437072
RGD:7240710
RGD:1598971
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
RGD:13592920
G Lat linker for activation of T cells JBrowse link 1 197,765,644 197,770,669 RGD:13592920
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:13592920
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 13 26,779,386 26,812,271 RGD:8554872
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt83 keratin 83 JBrowse link 7 143,078,996 143,085,833 RGD:8554872
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:12050155
RGD:12436733
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:8554872
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743608
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:1600192
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:10412066
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:11554173
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 3 111,049,132 111,061,991 RGD:10043094
G Supv3l1 Suv3 like RNA helicase JBrowse link 20 32,057,530 32,080,170 RGD:11554173
ichthyosis bullosa of Siemens term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:7240710
RGD:8554872
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:8554872
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:7240710
RGD:8554872
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:13592920
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:7240710
RGD:8554872
keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421562
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:734619
RGD:8554872
RGD:11554173
RGD:7240710
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
G Sat1 spermidine/spermine N1-acetyl transferase 1 JBrowse link X 43,626,480 43,629,767 RGD:7240710
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:1598781
RGD:8554872
RGD:7240710
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Esophageal Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 10 105,573,759 105,600,885 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:7240710
RGD:8554872
RGD:11554173
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:11554173
mal de Meleda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slurp1 secreted Ly6/Plaur domain containing 1 JBrowse link 7 115,961,655 115,963,071 RGD:8554872
RGD:13592920
MEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 JBrowse link 12 22,665,128 22,676,079 RGD:7240710
RGD:11554173
RGD:9684947
RGD:8554872
Naegeli Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
RGD:11554173
Naxos Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:13592920
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508433
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link 18 35,118,300 35,190,458 RGD:7240710
RGD:8554872
RGD:11554173
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:11554173
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:7240710
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link 11 77,815,216 77,830,373 RGD:7240710
RGD:11341732
RGD:8554872
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
RGD:7240710
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kank2 KN motif and ankyrin repeat domains 2 JBrowse link 8 22,792,000 22,821,459 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:11097846
RGD:11568636
RGD:7364819
RGD:7364814
G Mt-co1 mitochondrially encoded cytochrome c oxidase 1 JBrowse link MT 5,323 6,867 RGD:8554872
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
RGD:8554872
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7240710
RGD:8554872
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kb15 type II keratin Kb15 JBrowse link 7 143,208,034 143,217,771 RGD:7240710
RGD:8554872
palmoplantar keratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aagab alpha- and gamma-adaptin binding protein JBrowse link 8 68,526,063 68,564,604 RGD:11554173
RGD:8554872
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:12910125
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:1600286
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:8554872
G RGD1308195 similar to secreted Ly6/uPAR related protein 2 JBrowse link 7 115,977,854 115,981,734 RGD:13592920
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:8554872
G Slurp1 secreted Ly6/Plaur domain containing 1 JBrowse link 7 115,961,655 115,963,071 RGD:1599051
RGD:11554173
RGD:7240710
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
Papillon-Lefevre disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:1599638
RGD:8554872
RGD:11554173
RGD:7240710
Parakeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:1600175
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:8554872
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:8554872
porokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmvk phosphomevalonate kinase JBrowse link 2 188,784,329 188,793,890 RGD:13592920
Porokeratosis 1, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmvk phosphomevalonate kinase JBrowse link 2 188,784,329 188,793,890 RGD:7240710
RGD:8554872
Porokeratosis 2, Palmar, Plantar, and Disseminated Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
Porokeratosis 7, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872
RGD:7240710
Porokeratosis 9, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdps farnesyl diphosphate synthase JBrowse link 2 188,403,595 188,413,219 RGD:7240710
RGD:8554872
Porokeratosis, Disseminated Superficial Actinic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:8554872
RGD:11554173
G Sart3 squamous cell carcinoma antigen recognized by T-cells 3 JBrowse link 12 48,628,198 48,656,096 RGD:7240710
RGD:8554872
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a9 solute carrier family 17 member 9 JBrowse link 3 176,228,433 176,246,971 RGD:8554872
RGD:7240710
punctate palmoplantar keratoderma type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aagab alpha- and gamma-adaptin binding protein JBrowse link 8 68,526,063 68,564,604 RGD:7240710
RGD:9681734
RGD:8554872
punctate palmoplantar keratoderma type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
Schopf-Schulz-Passarge Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:7240710
RGD:8554872
seborrheic keratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421562
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:7240710
RGD:8554872
RGD:11554173
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
Vohwinkel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:11568635
RGD:7364824
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:7240710
RGD:11554173
RGD:8554872
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13871
    sensory system disease 3902
      skin disease 2199
        keratosis 120
          Callosities + 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Hyperkeratosis Lenticularis Perstans 0
          Johnston Aarons Schelley Syndrome 0
          Keratolytic Winter Erythema 0
          Multiple Eruptive Milia 0
          PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
          Parakeratosis 1
          Sclerotylosis 0
          Trichostasis Spinulosa 0
          Urban Schosser Spohn Syndrome 0
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 2
          cholesteatoma + 20
          erythrokeratodermia variabilis + 7
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 51
          keratosis follicularis + 3
          palmoplantar keratosis + 28
          porokeratosis + 8
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 13871
    disease of anatomical entity 13072
      nervous system disease 8089
        sensory system disease 3902
          skin disease 2199
            keratosis 120
              Callosities + 0
              Curly Hair-Acral Keratoderma-Caries Syndrome 0
              Hyperkeratosis Lenticularis Perstans 0
              Johnston Aarons Schelley Syndrome 0
              Keratolytic Winter Erythema 0
              Multiple Eruptive Milia 0
              PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
              Parakeratosis 1
              Sclerotylosis 0
              Trichostasis Spinulosa 0
              Urban Schosser Spohn Syndrome 0
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 2
              cholesteatoma + 20
              erythrokeratodermia variabilis + 7
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 51
              keratosis follicularis + 3
              palmoplantar keratosis + 28
              porokeratosis + 8
              seborrheic keratosis + 3
paths to the root