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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Plantar hyperkeratosis
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Accession:HP:0007556 term browser browse the term
Definition:Hyperkeratosis affecting the sole of the foot.
Synonyms:exact_synonym: Plantar hyperkeratoses
 alt_id: HP:0007382;   HP:0007445
 xref: UMLS:C1856954


show annotations for term's descendants           Sort by:
Plantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:104100 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79397 ORPHA:79399 ORPHA:79400 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79397 ORPHA:79399 ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G KRT6A keratin 6A IAGP HPO MIM:615726 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257 		JBrowse link
G KRT6C keratin 6C IAGP HPO MIM:615735 NCBI chr12:52,468,516...52,473,805
Ensembl chr12:52,468,516...52,473,805 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:226650 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G PLEC plectin IAGP HPO MIM:616487 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Congenital palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C IAGP HPO MIM:245010 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP HPO MIM:181600 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO MIM:620009 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
Congenital symmetrical palmoplantar keratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO MIM:248300 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
Diffuse palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP5 aquaporin 5 IAGP HPO MIM:600231 ORPHA:2337 NCBI chr12:49,961,872...49,965,682
Ensembl chr12:49,961,872...49,965,682 		JBrowse link
G DSG1 desmoglein 1 IAGP ClinVar Annotator: match by term: Diffuse palmoplantar hyperkeratosis ClinVar PMID:25741868 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G JUP junction plakoglobin IAGP HPO MIM:601214 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KLHL24 kelch like family member 24 IAGP HPO MIM:617294 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G KLK11 kallikrein related peptidase 11 IAGP HPO MIM:620507 NCBI chr19:51,022,236...51,027,991
Ensembl chr19:51,022,216...51,028,039 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:2199 ORPHA:530838 ORPHA:79503 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2199 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT9 keratin 9 IAGP HPO ORPHA:2199 NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO MIM:148500 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G SERPINA12 serpin family A member 12 IAGP HPO ORPHA:86923 NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO ORPHA:86923 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
Focal friction-related palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 IAGP HPO ORPHA:79400 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
Honeycomb palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 IAGP HPO MIM:124500 ORPHA:494 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP HPO MIM:604117 ORPHA:79395 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124 		JBrowse link
G POMP proteasome maturation protein IAGP HPO MIM:601952 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959 		JBrowse link
Nonepidermolytic palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 IAGP ClinVar Annotator: match by term: Nonepidermolytic palmoplantar keratoderma
ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis		 ClinVar
HPO		 PMID:19470048 PMID:25741868 PMID:28492532 MIM:600962 ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO ORPHA:87503 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
Palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO MIM:231550 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:615328 ORPHA:363523 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:158673 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CTSC cathepsin C IAGP HPO MIM:170650 MIM:245000 ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G DSG1 desmoglein 1 IAGP HPO MIM:148700 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:605676 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DST dystonin IAGP HPO MIM:615425 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO MIM:173650 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO MIM:148350 MIM:602540 ORPHA:2698 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO MIM:129500 ORPHA:189 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO MIM:259100 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO MIM:617526 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KLK11 kallikrein related peptidase 11 IAGP HPO MIM:620507 NCBI chr19:51,022,236...51,027,991
Ensembl chr19:51,022,216...51,028,039 		JBrowse link
G KRT1 keratin 1 IAGP HPO MIM:113800 MIM:620148 MIM:620411 ORPHA:2199 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT10 keratin 10 IAGP HPO MIM:607602 MIM:609165 MIM:620150 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KRT14 keratin 14 IAGP HPO MIM:125595 MIM:131760 MIM:131900 ORPHA:69087 ORPHA:89838 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT16 keratin 16 IAGP HPO MIM:167200 ORPHA:2199 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT17 keratin 17 IAGP HPO MIM:167210 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842 		JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:131760 MIM:619555 ORPHA:158681 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G KRT74 keratin 74 IAGP HPO MIM:194300 NCBI chr12:52,565,782...52,573,843
Ensembl chr12:52,565,782...52,573,843 		JBrowse link
G KRT83 keratin 83 IAGP HPO MIM:617756 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398 		JBrowse link
G KRT85 keratin 85 IAGP HPO MIM:602032 NCBI chr12:52,360,006...52,367,481
Ensembl chr12:52,360,006...52,367,481 		JBrowse link
G KRT9 keratin 9 IAGP HPO ORPHA:2199 NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP HPO ORPHA:79395 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO MIM:615280 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:300918 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO MIM:225060 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO MIM:224230 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:224230 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO MIM:619208 MIM:619209 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PKP1 plakophilin 1 IAGP HPO MIM:604536 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993 		JBrowse link
G PLEC plectin IAGP HPO MIM:226670 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO MIM:617574 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408 		JBrowse link
G SERPINB7 serpin family B member 7 IAGP HPO MIM:615598 NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO MIM:242300 ORPHA:100976 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
Palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G AAGAB alpha and gamma adaptin binding protein IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar
HPO		 PMID:25741868 ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO MIM:601277 ORPHA:79394 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO MIM:242100 ORPHA:79394 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP HPO MIM:242100 MIM:606545 ORPHA:79394 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G AP1B1 adaptor related protein complex 1 subunit beta 1 IAGP HPO MIM:242150 NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583 		JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IAGP HPO ORPHA:218 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CARD14 caspase recruitment domain family member 14 IAGP HPO MIM:173200 ORPHA:2897 NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,216,073 		JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912 		JBrowse link
G CERS3 ceramide synthase 3 IAGP HPO ORPHA:79394 NCBI chr15:100,400,395...100,544,683
Ensembl chr15:100,400,395...100,544,995 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:498359 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:79402 ORPHA:79406 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CST6 cystatin E/M IAGP HPO MIM:618535 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
G CSTA cystatin A IAGP HPO MIM:607936 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:3162 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO MIM:604777 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DSC2 desmocollin 2 IAGP HPO MIM:610476 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG1 desmoglein 1 IAGP HPO MIM:148700 MIM:615508 ORPHA:50942 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:605676 MIM:612908 MIM:615821 ORPHA:50942 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:1555 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:104100 MIM:617525 ORPHA:1010 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO MIM:149200 MIM:602540 ORPHA:2202 ORPHA:2698 ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO MIM:617524 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:189 ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:79402 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G JUP junction plakoglobin IAGP HPO MIM:601214 MIM:611528 ORPHA:34217 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP HPO MIM:616099 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:316 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KLK11 kallikrein related peptidase 11 IAGP HPO MIM:620507 NCBI chr19:51,022,236...51,027,991
Ensembl chr19:51,022,216...51,028,039 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT1 keratin 1 IAGP HPO MIM:146590 MIM:607654 MIM:620148 ORPHA:312 ORPHA:50942 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT10 keratin 10 IAGP HPO MIM:620150 MIM:620707 ORPHA:312 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G KRT14 keratin 14 IAGP HPO MIM:161000 ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT16 keratin 16 IAGP HPO MIM:613000 ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842 		JBrowse link
G KRT2 keratin 2 IAGP HPO ORPHA:455 NCBI chr12:52,644,558...52,652,211
Ensembl chr12:52,644,558...52,652,211 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G KRT6A keratin 6A IAGP HPO MIM:615726 ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257 		JBrowse link
G KRT6B keratin 6B IAGP HPO MIM:615728 ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146 		JBrowse link
G KRT6C keratin 6C IAGP HPO MIM:615735 NCBI chr12:52,468,516...52,473,805
Ensembl chr12:52,468,516...52,473,805 		JBrowse link
G KRT83 keratin 83 IAGP HPO ORPHA:316 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398 		JBrowse link
G KRT9 keratin 9 IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:1385292 PMID:2531643 PMID:7512862 PMID:7516304 PMID:7523529 More... NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79402 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79402 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79402 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP HPO ORPHA:316 ORPHA:79395 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:1366 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:300918 MIM:308800 ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO ORPHA:578 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:2202 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP HPO MIM:612281 ORPHA:79394 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:615225 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO MIM:619208 ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:79401 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 IAGP HPO MIM:615024 ORPHA:79394 NCBI chr 6:36,243,168...36,313,955
Ensembl chr 6:36,243,203...36,313,955 		JBrowse link
G POMP proteasome maturation protein IAGP HPO ORPHA:281201 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like IAGP HPO MIM:620519 NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO ORPHA:2198 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RSPO1 R-spondin 1 IAGP HPO MIM:610644 ORPHA:85112 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SASH1 SAM and SH3 domain containing 1 IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar
HPO		 PMID:25315659 MIM:618373 NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO ORPHA:79394 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SERPINB7 serpin family B member 7 IAGP HPO ORPHA:140966 NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO ORPHA:87503 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP HPO MIM:129200 ORPHA:384 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO MIM:609528 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STS steroid sulfatase IAGP HPO MIM:308100 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:79394 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425 		JBrowse link
G TAT tyrosine aminotransferase IAGP HPO ORPHA:28378 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:79394 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP HPO ORPHA:3162 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:106260 MIM:129400 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO ORPHA:316 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO MIM:614594 ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G TUFT1 tuftelin 1 IAGP HPO MIM:620415 NCBI chr 1:151,540,309...151,583,583
Ensembl chr 1:151,540,305...151,583,583 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar
HPO		 PMID:24449199 PMID:28492532 MIM:224750 ORPHA:50944 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
Patchy palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP HPO ORPHA:65282 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO MIM:133200 ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO MIM:616400 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
Punctate palmoplantar hyperkeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO MIM:148600 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IAGP HPO MIM:101900 ORPHA:79151 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		JBrowse link
G CAST calpastatin IAGP HPO MIM:616295 NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,525,267...96,779,595
Ensembl chr 5:96,525,267...96,779,595 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:131960 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73982
    Phenotypic abnormality 73676
      Abnormality of limbs 3105
        Abnormality of the lower limb 2155
          Abnormal foot morphology 1540
            Abnormality of the plantar skin of foot 176
              Plantar hyperkeratosis 132
                Hiker's feet 0
                Palmoplantar hyperkeratosis + 129
Path 2
Term Annotations click to browse term
  Human phenotype 73982
    Phenotypic abnormality 73676
      Abnormality of the integument 6078
        Abnormality of the skin 5416
          Abnormal skin morphology 2548
            Thickened skin 680
              Epidermal thickening 382
                Hyperkeratosis 232
                  Plantar hyperkeratosis 132
                    Hiker's feet 0
                    Palmoplantar hyperkeratosis + 129
paths to the root