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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:palmoplantar keratosis
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Accession:DOID:3390 term browser browse the term
Definition:A keratosis characterized by abnormal thickening of the palms and the soles. (DO)
Synonyms:exact_synonym: Hyperkeratosis Palmaris et Plantaris;   Keratosis Palmaris et Plantaris;   Palmoplantar Keratoderma;   Palmoplantar Keratodermas;   Palmoplantar Keratoses;   palmo-plantar keratodermas
 primary_id: MESH:D007645
 alt_id: OMIA:001327;   OMIM:248300
 xref: GARD:8167;   ICD10CM:L85.2;   NCI:C34748
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
palmoplantar keratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratoderma
CTD
ClinVar
PMID:23064416, PMID:25741868 NCBI chr 8:68,526,063...68,564,604
Ensembl chr 8:68,526,093...68,563,018
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:mutation:cds:c.23G>A,p.G8V(human) RGD PMID:25168385 RGD:12910125 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratosis
CTD
ClinVar
PMID:2104787, PMID:9139825, PMID:9856479, PMID:10980526, PMID:11354642, PMID:12372058, PMID:12668604, PMID:12700168, PMID:15790391, PMID:15996214, PMID:16059934, PMID:16172043, PMID:16945493, PMID:17462767, PMID:17666888, PMID:18793701, PMID:18924167, PMID:18941476, PMID:20096356, PMID:20890442, PMID:21040787, PMID:21510145, PMID:23451214, PMID:24033266, PMID:24387126, PMID:24945352, PMID:30311386 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Jup junction plakoglobin ISO Naxos disease, OMIM:601214 RGD PMID:10902626 RGD:1600286 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:1385292, PMID:2531643, PMID:7512862, PMID:7523529, PMID:12838553, PMID:17074468, PMID:19106041, PMID:25741868 NCBI chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:25168896, PMID:11285253 RGD:1599051 NCBI chr 7:115,961,655...115,963,071
Ensembl chr 7:115,961,731...115,963,046
JBrowse link
G Slurp2 secreted LY6/PLAUR domain containing 2 ISS MouseDO NCBI chr 7:115,977,854...115,981,734
Ensembl chr 7:115,977,852...115,981,731
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:24452206, PMID:28492532, PMID:28587736, PMID:30311386 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Alopecia congenita keratosis palmoplantaris ClinVar PMID:25168385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO OMIM NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:149200
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15952212, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:15482471 RGD:7364821 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp5 aquaporin 5 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:7531539, PMID:23830519 NCBI chr 7:141,249,044...141,252,576
Ensembl chr 7:141,249,044...141,252,578
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422, PMID:10594734, PMID:11063735, PMID:11841538, PMID:15210133, PMID:15941723, PMID:16061754, PMID:16175511, PMID:16467215, PMID:16628197, PMID:16774985, PMID:16917092, PMID:18382419, PMID:18632414, PMID:19095136, PMID:19279339, PMID:19558499, PMID:19863551, PMID:19924139, PMID:20031617, PMID:20129281, PMID:20152563, PMID:20400443, PMID:20435227, PMID:20525856, PMID:20716751, PMID:20738328, PMID:20829228, PMID:20864495, PMID:21062920, PMID:21193976, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21636032, PMID:21723241, PMID:21756917, PMID:21859740, PMID:22214898, PMID:22216297, PMID:22555271, PMID:22795705, PMID:22949226, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23381804, PMID:23396983, PMID:23465283, PMID:23514727, PMID:23524727, PMID:23671136, PMID:23810894, PMID:23812740, PMID:23861362, PMID:23911551, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24125834, PMID:24440382, PMID:24448499, PMID:24503780, PMID:24704780, PMID:24825141, PMID:24967631, PMID:24981977, PMID:25157032, PMID:25163546, PMID:25196244, PMID:25225338, PMID:25227139, PMID:25344691, PMID:25351510, PMID:25447171, PMID:25516398, PMID:25525159, PMID:25550050, PMID:25569433, PMID:25616645, PMID:25637381, PMID:25661095, PMID:25676813, PMID:25691752, PMID:25693453, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26138720, PMID:26148547, PMID:26187847, PMID:26220970, PMID:26230511, PMID:26314686, PMID:26332594, PMID:26383259, PMID:26399581, PMID:26406308, PMID:26498160, PMID:26569459, PMID:26585738, PMID:26604139, PMID:26656175, PMID:26688388, PMID:26735901, PMID:26743238, PMID:26833927, PMID:26850880, PMID:26899768, PMID:27097650, PMID:27153395, PMID:27194543, PMID:27329731, PMID:27435932, PMID:27532257, PMID:27698334, PMID:27707468, PMID:27831900, PMID:27884173, PMID:28074886, PMID:28087426, PMID:28152038, PMID:28254189, PMID:28255936, PMID:28301460, PMID:28341588, PMID:28416588, PMID:28442525, PMID:28471438, PMID:28473349, PMID:28492532, PMID:28527814, PMID:28588093, PMID:28611029, PMID:28759816, PMID:28798025, PMID:28912206, PMID:29062697, PMID:29247119, PMID:29253866, PMID:29420653, PMID:29511324, PMID:29750433, PMID:29759408, PMID:29892087, PMID:29915097, PMID:30165862, PMID:30311386, PMID:30354334, PMID:30382575, PMID:30820396, PMID:30919684, PMID:30975432, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome
ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM
ClinVar
PMID:15968592, PMID:19350501, PMID:21073448, PMID:23231787, PMID:25356970, PMID:25473036, PMID:25741868, PMID:25958742, PMID:26467025, PMID:28492532 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
JBrowse link
Cole Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Cole disease
ClinVar Annotator: match by OMIM:615522
OMIM
ClinVar
PMID:19380683, PMID:24075184, PMID:25741868 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO EPPK, OMIM:144200 RGD PMID:7512862 RGD:1600065 NCBI chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by OMIM:144200 OMIM
ClinVar
PMID:11286630 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis ClinVar PMID:25741868, PMID:28492532 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt9 keratin 9 ISO ClinVar Annotator: match by term: Localized epidermolytic hyperkeratosis
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma
ClinVar Annotator: match by OMIM:144200
OMIM
ClinVar
PMID:152116, PMID:1385292, PMID:2531643, PMID:2960371, PMID:7511021, PMID:7512862, PMID:7516304, PMID:7523529, PMID:7532199, PMID:8647270, PMID:9204965, PMID:9856842, PMID:12072061, PMID:12838553, PMID:17074468, PMID:19106041, PMID:19341430, PMID:20964665, PMID:25741868, PMID:27864007, PMID:28492532 NCBI chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
JBrowse link
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt9 keratin 9 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, with knuckle pads
ClinVar PMID:1385292, PMID:2531643, PMID:7512862, PMID:7523529, PMID:12192490, PMID:12838553, PMID:17074468, PMID:19106041, PMID:25741868 NCBI chr10:88,102,519...88,107,232
Ensembl chr10:88,102,519...88,107,232
JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:19609311 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410, PMID:16250206, PMID:25741868 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO OMIM NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 ClinVar NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946, PMID:25285920, PMID:28492532 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
focal or diffuse nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by OMIM:615735 OMIM
ClinVar
PMID:19609311, PMID:23662636 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
JBrowse link
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO DNA:snp:intron:IVS2-1G>A (human)
ClinVar Annotator: match by term: Keratosis palmoplantaris striata 1
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:148700
ClinVar
OMIM
PMID:7544663, PMID:10332028, PMID:11313759, PMID:15897387, PMID:16484817, PMID:19018793, PMID:19157795, PMID:25741868, PMID:10332028 RGD:1598781 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II
ClinVar Annotator: match by term: Keratosis palmoplantaris striata II
ClinVar Annotator: match by OMIM:612908
OMIM
ClinVar
PMID:9887343, PMID:10594734, PMID:16774985, PMID:19095136, PMID:19279339, PMID:19558499, PMID:20864495, PMID:21606396, PMID:22949226, PMID:24033266, PMID:24503780, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by OMIM:607654 OMIM
ClinVar
PMID:11286616, PMID:11982762 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537, PMID:10581027, PMID:10593994, PMID:10662807, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:18809751, PMID:18945301, PMID:23311634, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
mal de Meleda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO
ISS
ClinVar Annotator: match by term: Mal de Meleda
OMIM:248300
ClinVar
MouseDO
PMID:9887370, PMID:11285253, PMID:12483299, PMID:12535203, PMID:12603845, PMID:14674887, PMID:14756676, PMID:17008884, PMID:23290002, PMID:24033266, PMID:24093092, PMID:24604124, PMID:28492532, PMID:29231248 NCBI chr 7:115,961,655...115,963,071
Ensembl chr 7:115,961,731...115,963,046
JBrowse link
mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques ClinVar NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by OMIM:614594
ClinVar Annotator: match by term: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
ClinVar PMID:22405088, PMID:24452206, PMID:25741868, PMID:28492532, PMID:28587736, PMID:30311386 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:161000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8496458, PMID:13141721, PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
Naxos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by OMIM:601214
OMIM
ClinVar
PMID:10902626, PMID:18672408, PMID:18937352, PMID:19067702, PMID:19863551, PMID:20031617, PMID:20130592, PMID:20525856, PMID:20864495, PMID:21320868, PMID:21606396, PMID:21668431, PMID:21859740, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24125834, PMID:24503780, PMID:24884844, PMID:25351510, PMID:25445213, PMID:25616645, PMID:25741868, PMID:25765472, PMID:25820315, PMID:26073755, PMID:26220970, PMID:26230511, PMID:27532257, PMID:27662471, PMID:27930701, PMID:28098346, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28798025, PMID:28831623, PMID:28855170, PMID:29247119, PMID:29334134, PMID:30311386 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic
ClinVar Annotator: match by OMIM:600962
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7528239, PMID:12406346, PMID:28492532 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt16 keratin 16 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 ISS OMIM:600962 | OMIM:613000 | OMIM:615735 MouseDO NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by null ClinVar PMID:18085567 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO OMIM NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar
PMID:24671081 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nagashima type
ClinVar Annotator: match by OMIM:615598
OMIM
ClinVar
PMID:24207119, PMID:24514002, PMID:24773080, PMID:25741868 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness
ClinVar Annotator: match by term: Keratoderma palmoplantar deafness
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness
DNA:missense mutation:cds:p.G130V(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
ClinVar Annotator: match by OMIM:148350
DNA:mutation:cds:p.H73R(human)
DNA:missense mutation:cds:p.S183F(human)
OMIM
ClinVar
PMID:1218943, PMID:1693158, PMID:2104787, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12372058, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15790391, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:18688874, PMID:24975403, PMID:17993581, PMID:18787097 RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819, PMID:6213205, PMID:7987332, PMID:8019558, PMID:8572257, PMID:9450881, PMID:9742104, PMID:11069477, PMID:11175301, PMID:20301595, PMID:31965079 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
ClinVar Annotator: match by OMIM:148500
OMIM
ClinVar
PMID:8508402, PMID:13209063, PMID:22265016, PMID:22638770, PMID:28492532 NCBI chr10:105,573,759...105,600,885
Ensembl chr10:105,573,752...105,600,913
JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
ClinVar Annotator: match by term: Papillon-Lefevre Disease
ClinVar Annotator: match by OMIM:245000
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10581027, PMID:10593994, PMID:10662807, PMID:10662808, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:16008657, PMID:18809751, PMID:23108224, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039, PMID:10593994 RGD:1599638 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
punctate palmoplantar keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO ClinVar Annotator: match by term: Keratosis palmoplantaris papulosa
DNA:mutations:cds:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:23000146, PMID:23064416, PMID:25741868, PMID:24390136 RGD:9681734 NCBI chr 8:68,526,063...68,564,604
Ensembl chr 8:68,526,093...68,563,018
JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans
ClinVar Annotator: match by term: Mutilating keratoderma
ClinVar Annotator: match by OMIM:124500
DNA:mutation:cds:p.D66H(human)
OMIM
ClinVar
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9326398, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:12837696, PMID:10369869 RGD:11568635, RGD:7364824 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by OMIM:300918 OMIM
ClinVar
PMID:17367233, PMID:22931912 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        keratosis 187
          palmoplantar keratosis 29
            Alopecia Congenita Keratosis Palmoplantaris + 1
            Bart-Pumphrey syndrome 1
            Basaran Yilmaz Syndrome 1
            CEDNIK syndrome 1
            Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
            Cole Disease 1
            Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
            Corneodermatoosseous Syndrome 0
            Diffuse Palmoplantar Keratoderma + 11
            Fitzsimmons-McLachlan-Gilbert syndrome 0
            Focal Palmoplantar and Gingival Keratosis 0
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
            Judge Misch Wright Syndrome 0
            Keratoderma Palmoplantaris Transgrediens 0
            Keratosis Palmaris et Plantaris with Clinodactyly 0
            Keratosis Palmoplantaris Striata 1 1
            Keratosis Palmoplantaris Striata 2 1
            Keratosis Palmoplantaris Striata 3 1
            Naegeli-Franceschetti-Jadassohn syndrome 1
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
            Palmoplantar Hyperkeratosis and True Hermaphroditism 1
            Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
            Palmoplantar Keratoderma, Nagashima Type 1
            Palmoplantar Keratoderma, Norrbotten Recessive Type 0
            Palmoplantar Keratoderma, Spastic Paralysis 0
            Papillon-Lefevre disease + 1
            Patel Bixler Syndrome 0
            Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
            Powell Venencie Gordon syndrome 0
            Schopf-Schulz-Passarge syndrome 1
            Stern Lubinsky Durrie Syndrome 0
            Vohwinkel syndrome 1
            mal de Meleda 1
            mutilating palmoplantar keratoderma with periorificial keratotic plaques + 3
            nonepidermolytic palmoplantar keratoderma + 9
            palmoplantar keratoderma-deafness syndrome 2
            palmoplantar keratoderma-esophageal carcinoma syndrome 1
            punctate palmoplantar keratoderma + 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            keratosis 187
              palmoplantar keratosis 29
                Alopecia Congenita Keratosis Palmoplantaris + 1
                Bart-Pumphrey syndrome 1
                Basaran Yilmaz Syndrome 1
                CEDNIK syndrome 1
                Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
                Cole Disease 1
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Corneodermatoosseous Syndrome 0
                Diffuse Palmoplantar Keratoderma + 11
                Fitzsimmons-McLachlan-Gilbert syndrome 0
                Focal Palmoplantar and Gingival Keratosis 0
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                Judge Misch Wright Syndrome 0
                Keratoderma Palmoplantaris Transgrediens 0
                Keratosis Palmaris et Plantaris with Clinodactyly 0
                Keratosis Palmoplantaris Striata 1 1
                Keratosis Palmoplantaris Striata 2 1
                Keratosis Palmoplantaris Striata 3 1
                Naegeli-Franceschetti-Jadassohn syndrome 1
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + 2
                Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
                Palmoplantar Keratoderma, Nagashima Type 1
                Palmoplantar Keratoderma, Norrbotten Recessive Type 0
                Palmoplantar Keratoderma, Spastic Paralysis 0
                Papillon-Lefevre disease + 1
                Patel Bixler Syndrome 0
                Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
                Powell Venencie Gordon syndrome 0
                Schopf-Schulz-Passarge syndrome 1
                Stern Lubinsky Durrie Syndrome 0
                Vohwinkel syndrome 1
                mal de Meleda 1
                mutilating palmoplantar keratoderma with periorificial keratotic plaques + 3
                nonepidermolytic palmoplantar keratoderma + 9
                palmoplantar keratoderma-deafness syndrome 2
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
                punctate palmoplantar keratoderma + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.