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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: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
 xref: NCI:C34747
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G CAT catalase susceptibility ISO DNA:SNP:promoter:-262C>T(rs1001179)(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14580687 RGD:9479152 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496
JBrowse link
G MPO myeloperoxidase susceptibility ISO DNA:SNP:promoter:-463G>T(rs2333227)(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14580687 RGD:9479152 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930632, PMID:28785074 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
acrokeratosis verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO OMIM NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name Qualifiers 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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
JBrowse link
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar PMID:16116617, PMID:18347291, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr20:46,674,580...46,743,183
Ensembl chr20:46,458,620...46,705,789
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P RGD PMID:9195225 RGD:1601069 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 4:52,735,094...52,748,168
Ensembl chr 4:52,736,693...52,745,189
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar PMID:3757302, PMID:24344921, PMID:28369476, PMID:28403545 NCBI chr12:5,377,430...5,423,556
Ensembl chr12:5,377,430...5,423,556
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379, PMID:11407995, PMID:11511296, PMID:16968736, PMID:19212342, PMID:19262603, PMID:19863506, PMID:19890349, PMID:20167857, PMID:21895619, PMID:22801880, PMID:23895935, PMID:24033266, PMID:24419105, PMID:25741868, PMID:26076875, PMID:26762237, PMID:27025581, PMID:28403434, PMID:28492532 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12915478, PMID:16675967 RGD:1598548 NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11773004, PMID:21739938 RGD:1599073 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876
JBrowse link
G TGM1 transglutaminase 1 IEA
ISO
Ichthyosis, TGM1-related OMIA
OMIM
PMID:19438474, PMID:23182326, PMID:26178606 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA1 patatin like phospholipase domain containing 1 IEA
ISO
Ichthyosis, PNPLA1-related OMIA
OMIM
PMID:15532893, PMID:18424829, PMID:18477327, PMID:19413748, PMID:21866517, PMID:22246504, PMID:26662214, PMID:27237723 NCBI chr12:5,377,430...5,423,556
Ensembl chr12:5,377,430...5,423,556
JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ST14 ST14 transmembrane serine protease matriptase ISO OMIM NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP14 caspase 14 ISO OMIM NCBI chr20:47,060,351...47,067,169
Ensembl chr20:47,062,278...47,065,001
JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO OMIM NCBI chr10:1,112,832...1,121,238
Ensembl chr10:1,112,896...1,120,720
JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SULT2B1 sulfotransferase family 2B member 1 ISO OMIM NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876
JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO OMIM NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD
ClinVar
PMID:25741868 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:17496163, PMID:28575648 NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876
JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 ISO OMIM NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO OMIM NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736
JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO OMIM NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO OMIM NCBI chr20:46,674,580...46,743,183
Ensembl chr20:46,458,620...46,705,789
JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NIPAL4 NIPA like domain containing 4 IEA
ISO
Ichthyosis, NIPAL4-related OMIA
OMIM
PMID:23182326, PMID:25322746, PMID:28122049 NCBI chr 4:52,735,094...52,748,168
Ensembl chr 4:52,736,693...52,745,189
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPN lipase family member N ISO OMIM NCBI chr26:38,573,408...38,588,171 JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS3 ceramide synthase 3 ISO OMIM NCBI chr 3:40,448,174...40,570,736
Ensembl chr 3:40,459,162...40,568,272
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers 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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP5 aquaporin 5 ISO OMIM NCBI chr27:4,735,313...4,742,975
Ensembl chr27:4,735,538...4,737,650
JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO OMIM NCBI chr27:2,447,854...2,454,492 JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASH1 SAM and SH3 domain containing 1 ISO OMIM NCBI chr 1:39,221,243...39,478,057
Ensembl chr 1:39,146,020...39,476,914
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNAP29 synaptosome associated protein 29 ISO OMIM NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262
JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO OMIM NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chr 5:39,601,288...39,687,125
Ensembl chr 5:39,601,291...39,686,908
JBrowse link
cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EREG epiregulin ISO mRNA:increased expression:external acoustic meatus (human) RGD PMID:24256036 RGD:39457690 NCBI chr13:62,857,325...62,877,831
Ensembl chr13:62,856,709...62,877,760
JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
cholesteatoma of middle ear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:7503375, PMID:12768791 RGD:11059515, RGD:7794712 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:ear:
associated with Otitis Media;protein:increased expression:ear:
RGD PMID:8652157, PMID:21311206 RGD:7364848, RGD:7829727 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OMIM NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
Congenital Cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO OMIM NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708
JBrowse link
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr27:2,422,150...2,427,160 JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587
JBrowse link
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type ClinVar PMID:10441324 NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
Darier Disease, Segmental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO EPPK, OMIM:144200 RGD PMID:7512862 RGD:1600065 NCBI chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
epidermolytic hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar PMID:30311386 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr15:7,193,183...7,195,586 JBrowse link
G KRT1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A OMIM
RGD
PMID:11286616 RGD:1600166 NCBI chr27:2,422,150...2,427,160 JBrowse link
G KRT10 keratin 10 susceptibility IEA
ISO
Hyperkeratosis, epidermolytic
DNA:mutations:cds: p.R156C (human)
OMIA
RGD
OMIM
PMID:7512983, PMID:10805985, PMID:15053927, PMID:15946235, PMID:16029326 RGD:1600168 NCBI chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587
JBrowse link
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset ClinVar PMID:12648226 NCBI chr27:2,422,150...2,427,160 JBrowse link
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr27:2,422,150...2,427,160 JBrowse link
G KRT9 keratin 9 ISO OMIM NCBI chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT9 keratin 9 ISO 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 chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
erythrokeratodermia variabilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
DNA:missense mutation:cds:p.R42P (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutations:cds:p.G12D, p.L209F (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
RGD
CTD
PMID:9843209, PMID:10594760, PMID:10798362, PMID:15948974, PMID:16297190, PMID:21188847, PMID:22681493, PMID:25556823 RGD:11097171, RGD:11251416, RGD:12050153, RGD:12436729, RGD:12436731, RGD:12436734, RGD:12437067, RGD:1578480 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO DNA:missense mutations:exon:multiple
DNA:missense mutation: :p.F137L (human)
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
RGD PMID:11017804, PMID:12648223, PMID:23037955 RGD:12437072, RGD:1598970, RGD:1598971 NCBI chr15:7,193,183...7,195,586 JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr15:7,193,183...7,195,586 JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB4 gap junction protein beta 4 ISO OMIM NCBI chr15:7,193,183...7,195,586 JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDSR 3-ketodihydrosphingosine reductase ISO OMIM NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528
JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO OMIM NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.V30I (c.G88A) (human)
DNA:missense mutation:CDS:p.L34P (101T>C) (human)
RGD PMID:12019212, PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr15:7,175,010...7,177,145 JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers 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 chr 9:47,322,817...47,338,202
Ensembl chr 9:47,322,820...47,338,108
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO OMIM NCBI chr26:22,632,970...22,715,449
Ensembl chr26:22,630,670...22,689,996
JBrowse link
ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862, PMID:30311386 NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689
JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:29286531, PMID:30311386 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:49,426,228...49,449,448 JBrowse link
G ANKRD11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IEA Ichthyosis, ASPRV1-related OMIA PMID:28249031 NCBI chr10:68,586,405...68,589,753
Ensembl chr10:68,586,975...68,589,287
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:11157798, PMID:15172985, PMID:15184261, PMID:15235020, PMID:16267036, PMID:17305420, PMID:17308087, PMID:20104584, PMID:20378548, PMID:20516115, PMID:21232165, PMID:21447777, PMID:21520273, PMID:22703879, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25948282, PMID:26845104, PMID:28492532, PMID:30209399, PMID:30311386 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:21866095, PMID:23344081, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:30311386 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:30311386 NCBI chr25:30,117,384...30,137,223
Ensembl chr25:30,117,239...30,135,599
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:10888875, PMID:15657609, PMID:15712225, PMID:17652762, PMID:20079539, PMID:25558176, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:9457913, PMID:30311386 NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
JBrowse link
G DDX58 DExD/H-box helicase 58 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16917092, PMID:20129281, PMID:20152563, PMID:21606396, PMID:23137101, PMID:23292937, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26230511, PMID:26569459, PMID:26656175, PMID:27153395, PMID:27435932, PMID:28473349, PMID:28492532, PMID:30311386 NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:61,217,915...61,233,068 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25133958, PMID:28492532, PMID:30311386 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:17964524, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G KRT2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr27:2,447,854...2,454,492 JBrowse link
G LOC487375 elongation factor 1-alpha 1-like ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:3066688, PMID:19636410, PMID:19909265, PMID:23033978, PMID:23647072, PMID:24697219, PMID:25741868, PMID:26682508, PMID:26740508, PMID:27441201, PMID:28378778, PMID:28492532, PMID:28911200, PMID:30311386 NCBI chr 2:75,787,450...75,797,662 JBrowse link
G MDM2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:17311297, PMID:18041031, PMID:25074460, PMID:28492532, PMID:29449315, PMID:29618358, PMID:30311386 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis
CTD
ClinVar
PMID:22246504, PMID:26691440 NCBI chr12:5,377,430...5,423,556
Ensembl chr12:5,377,430...5,423,556
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr23:8,420,468...8,527,414
Ensembl chr23:8,420,472...8,527,383
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:11804990, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chr30:7,976,094...7,989,019
Ensembl chr30:7,975,235...7,988,339
JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr 4:20,313,902...20,342,375
Ensembl chr 4:20,313,814...20,340,882
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:30,475,134...30,927,758
Ensembl chr10:30,482,870...30,923,257
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7773290, PMID:9593710, PMID:16968736, PMID:19241467, PMID:22437313, PMID:24824130, PMID:25741868, PMID:27025581 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:19608031, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr28:10,966,158...10,987,822
Ensembl chr28:10,966,142...11,036,946
JBrowse link
Ichthyosis Exfoliativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis exfoliativa ClinVar PMID:2004005, PMID:7521371, PMID:7524919, PMID:8077693, PMID:10233323 NCBI chr27:2,447,854...2,454,492 JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SREBF1 sterol regulatory element binding transcription factor 1 ISO OMIM NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:31790666, PMID:32497488, PMID:32902915 NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr27:2,422,150...2,427,160 JBrowse link
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC27A4 solute carrier family 27 member 4 IEA
ISO
Ichthyosis, SLC27A4-related OMIA
OMIM
PMID:26242581, PMID:26506231 NCBI chr 9:55,164,106...55,177,567
Ensembl chr 9:55,164,817...55,177,511
JBrowse link
ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLG filaggrin ISO OMIM NCBI chr17:61,217,915...61,233,068 JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL4 ELOVL fatty acid elongase 4 ISO OMIM NCBI chr12:40,845,357...40,876,658
Ensembl chr12:40,846,202...40,876,758
JBrowse link
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL1 ELOVL fatty acid elongase 1 ISO OMIM NCBI chr15:16,798,305...16,803,071
Ensembl chr15:16,798,370...16,802,899
JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:9285800, PMID:9819448, PMID:10049954, PMID:10508996, PMID:10596881, PMID:10903123, PMID:10982182, PMID:11074495, PMID:11386851, PMID:11556849, PMID:11668644, PMID:11935342, PMID:15967879, PMID:16380907, PMID:17666888, PMID:18414213, PMID:19125024, PMID:20739944, PMID:21465647, PMID:22567369, PMID:22695344, PMID:22785241, PMID:24033266, PMID:24158611, PMID:24529908, PMID:25741868, PMID:26096904, PMID:26236732, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
Keratolytic Winter Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO OMIM NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
keratosis follicularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO OMIM NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO OMIM NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708
JBrowse link
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr27:2,422,150...2,427,160 JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
JBrowse link
keratosis pilaris atrophicans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO OMIM NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
JBrowse link
Lamellar Ichthyosis, Autosomal Dominant Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPRV1 aspartic peptidase retroviral like 1 ISO OMIM NCBI chr10:68,586,405...68,589,753
Ensembl chr10:68,586,975...68,589,287
JBrowse link
mal de Meleda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLURP1 secreted LY6/PLAUR domain containing 1 ISO ClinVar Annotator: match by term: Mal de Meleda
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS
ClinVar 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 chr13:36,789,738...36,791,013
Ensembl chr13:36,789,721...36,796,831
JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO OMIM NCBI chr 6:8,705,294...8,711,285
Ensembl chr 6:8,705,647...8,711,190
JBrowse link
mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers 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 chr 9:47,322,817...47,338,202
Ensembl chr 9:47,322,820...47,338,108
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO 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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISO OMIM NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO OMIM NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA glucosylceramidase beta severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chr 2:42,285,537...42,365,637
Ensembl chr 2:42,285,537...42,365,690
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC608055 D-3-phosphoglycerate dehydrogenase ISO OMIM NCBI chr17:57,385,063...57,410,439 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162
JBrowse link
neutral lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO OMIM NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:16644682, PMID:17187067, PMID:18445597, PMID:19038890, PMID:20370797, PMID:21170305, PMID:21544567, PMID:22832386, PMID:22990388, PMID:23232698, PMID:23449549, PMID:24332944, PMID:24334715, PMID:24836204, PMID:25741868, PMID:25956450, PMID:27869069, PMID:28391974, PMID:28492532, PMID:28499397 NCBI chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268
JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 ISO OMIM NCBI chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 ISO OMIM NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033
JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr34:22,392,108...22,414,250
Ensembl chr34:22,317,474...22,412,665
JBrowse link
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr27:2,422,150...2,427,160 JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO OMIM NCBI chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800
JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KANK2 KN motif and ankyrin repeat domains 2 ISO OMIM NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320
JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB7 serpin family B member 7 ISO OMIM NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125
JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 ISO OMIM NCBI chr 9:4,211,951...4,240,253
Ensembl chr 9:4,226,364...4,237,825
JBrowse link
palmoplantar keratosis term browser
Symbol Object Name Qualifiers 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 chr30:31,369,534...31,422,363
Ensembl chr30:31,369,902...31,422,474
JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708
JBrowse link
G FAM83G family with sequence similarity 83 member G IEA Hyperkeratosis, palmoplantar, FAM83G-related OMIA PMID:10701186, PMID:12828257, PMID:24832243, PMID:26747202 NCBI chr 5:41,054,805...41,085,156
Ensembl chr 5:41,055,311...41,084,739
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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:30311386 NCBI chr27:2,609,414...2,623,810 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 chr 9:21,204,213...21,210,793
Ensembl chr 9:21,203,618...21,209,421
JBrowse link
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:39,221,243...39,478,057
Ensembl chr 1:39,146,020...39,476,914
JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 ISO OMIM NCBI chr13:36,789,738...36,791,013
Ensembl chr13:36,789,721...36,796,831
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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
JBrowse link
Parakeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 ISO RGD PMID:15809047 RGD:1600175 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G SUV39H2 suppressor of variegation 3-9 homolog 2 IEA Nasal parakeratosis OMIA PMID:12662268, PMID:12895224, PMID:24098150, PMID:29423952 NCBI chr 2:21,715,677...21,749,732
Ensembl chr 2:21,728,964...21,749,597
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO OMIM NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073, PMID:25683118 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO OMIM NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:9,766,369...9,768,831
Ensembl chr18:9,765,972...9,768,833
JBrowse link
Porokeratosis 1, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMVK phosphomevalonate kinase ISO OMIM NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
Porokeratosis 7, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVD mevalonate diphosphate decarboxylase ISO OMIM NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
Porokeratosis 9, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDPS farnesyl diphosphate synthase ISO OMIM NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
Porokeratosis, Disseminated Superficial Actinic 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:26202976 NCBI chr26:17,519,158...17,531,200
Ensembl chr26:17,519,199...17,529,514
JBrowse link
G MVK mevalonate kinase ISO OMIM NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G SART3 spliceosome associated factor 3, U4/U6 recycling protein ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:15840095, PMID:17392836 NCBI chr26:18,308,065...18,345,903
Ensembl chr26:18,308,733...18,345,353
JBrowse link
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A9 solute carrier family 17 member 9 ISO OMIM NCBI chr24:46,752,464...46,765,915
Ensembl chr24:46,752,107...46,766,375
JBrowse link
punctate palmoplantar keratoderma term browser
Symbol Object Name Qualifiers 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 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO OMIM NCBI chr30:31,369,534...31,422,363
Ensembl chr30:31,369,902...31,422,474
JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Qualifiers 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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:25774499 NCBI chr27:2,422,150...2,427,160 JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO OMIM NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO OMIM NCBI chr32:17,089,514...17,167,917
Ensembl chr32:17,090,293...17,166,648
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
Sjogren-Larsson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO OMIM NCBI chr 5:40,515,768...40,641,377
Ensembl chr 5:40,515,030...40,641,463
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIM1 stromal interaction molecule 1 ISO OMIM NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375
JBrowse link
Urban Schosser Spohn Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SREBF1 sterol regulatory element binding transcription factor 1 ISO OMIM NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr  X:4,775,702...4,925,027
Ensembl chr  X:4,874,240...4,924,976
JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328, PMID:7208152, PMID:18413370 NCBI chr  X:4,185,144...4,325,866
Ensembl chr  X:4,247,982...4,325,870
JBrowse link
G STS steroid sulfatase ISO OMIM NCBI chr  X:4,396,867...4,470,093
Ensembl chr  X:4,325,665...4,467,284
JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    sensory system disease 4836
      skin disease 2530
        keratosis 179
          Callosities + 0
          Curly Hair-Acral Keratoderma-Caries Syndrome 0
          Hyperkeratosis Lenticularis Perstans 0
          Johnston Aarons Schelley Syndrome 0
          Keratolytic Winter Erythema 1
          Multiple Eruptive Milia 0
          PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
          Parakeratosis 2
          Sclerotylosis 1
          Trichostasis Spinulosa 0
          Urban Schosser Spohn Syndrome 1
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 4
          cholesteatoma + 21
          erythrokeratodermia variabilis + 6
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 107
          keratosis follicularis + 4
          palmoplantar keratosis + 28
          porokeratosis + 7
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        sensory system disease 4836
          skin disease 2530
            keratosis 179
              Callosities + 0
              Curly Hair-Acral Keratoderma-Caries Syndrome 0
              Hyperkeratosis Lenticularis Perstans 0
              Johnston Aarons Schelley Syndrome 0
              Keratolytic Winter Erythema 1
              Multiple Eruptive Milia 0
              PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
              Parakeratosis 2
              Sclerotylosis 1
              Trichostasis Spinulosa 0
              Urban Schosser Spohn Syndrome 1
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 4
              cholesteatoma + 21
              erythrokeratodermia variabilis + 6
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 107
              keratosis follicularis + 4
              palmoplantar keratosis + 28
              porokeratosis + 7
              seborrheic keratosis + 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.