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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 chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
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 chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,297,835
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 chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20404090 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930632, PMID:28785074 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,097
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr15:56,657,648...56,869,920 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 5:22,435,636...22,519,276 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 chr11:774,090...781,252 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 chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
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 Annotator: match by term: Congenital ichthyosis of skin
ClinVar PMID:17508018, PMID:25741868, PMID:28492532 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
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 chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G LOC100620265 cytochrome P450 4F22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,471...62,103,971
JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,807,054...65,826,799
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 chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Congenital ichthyosis of skin ClinVar PMID:25741868 NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,086
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 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
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 CTD
RGD
PMID:12915478, PMID:16675967 RGD:1598548 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,201...27,056,744
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11773004, PMID:21739938 RGD:1599073 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
JBrowse link
G TGM1 transglutaminase 1 ISO OMIM NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
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 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,072,899
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 ISO OMIM NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
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 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,771
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 chr 2:62,522,294...62,531,594
Ensembl chr 2:62,521,997...62,531,539
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 chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,086
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 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
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 chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
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 chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
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 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
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 chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
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 chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
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 chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100620265 cytochrome P450 4F22 ISO OMIM NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,471...62,103,971
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 ISO OMIM NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,807,054...65,826,799
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100156277 lipase member N ISO OMIM NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,692,254...100,711,638
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 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874
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 chr11:774,090...781,252 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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067
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 chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
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 chr 5:22,435,636...22,519,276 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 1:17,306,364...17,663,117
Ensembl chr 1:17,306,372...17,662,825
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ClinVar PMID:25741868 NCBI chr14:49,618,737...49,638,054 JBrowse link
G SNAP29 synaptosome associated protein 29 ISO OMIM NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,154...50,511,456
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:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
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 chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,824
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 chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,309...70,372,518
JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
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 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:7503375, PMID:12768791 RGD:11059515, RGD:7794712 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,914...52,288,515
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL6 interleukin 6 ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:8652157, PMID:21311206 RGD:7364848, RGD:7829727 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
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 chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
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 chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
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 chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
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 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,646
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
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 chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
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 chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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 chr13:31,262,750...31,295,112 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
JBrowse link
G GJB4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
JBrowse link
G KRT1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A OMIM
RGD
PMID:11286616 RGD:1600166 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human) OMIM
RGD
PMID:7512983 RGD:1600168 NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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:exon:p.L135V (c.403C>G) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:cds:p.R42P (human)
DNA:missense mutations:cds:p.G12D, p.L209F (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 chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
JBrowse link
G GJB4 gap junction protein beta 4 ISO DNA:missense mutation: :p.F137L (human)
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutations:exon:multiple
RGD PMID:11017804, PMID:12648223, PMID:23037955 RGD:12437072, RGD:1598970, RGD:1598971 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
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 chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
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 chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100523123 keratin, type II cuticular Hb1 ISO OMIM NCBI chr 5:17,608,637...17,614,061 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 6:54,342,774...54,377,557
Ensembl chr 6:54,342,221...54,377,155
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 chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
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 chr12:49,573,050...49,609,232 JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
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 chr11:774,090...781,252 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 chr14:46,469,462...46,520,175
Ensembl chr14:46,469,466...46,520,135
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 chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
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 3:28,260,935...28,356,706 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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
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 chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729
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 chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,672...50,864,032
JBrowse link
G ANKRD11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...616,199
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr17:35,985,978...36,067,122
Ensembl chr17:35,985,535...36,067,122
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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
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 chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
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 chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:28492532, PMID:30311386 NCBI chr14:11,193,732...11,204,334
Ensembl chr14:11,191,842...11,207,381
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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,617
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:9457913, PMID:30311386 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,408...115,064,783
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,458...48,089,971
JBrowse link
G DDX58 DExD/H-box helicase 58 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,865,838...33,933,455
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,532...427,542
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,513
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 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 chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,384
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,738...19,787,618
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988
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 chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,976,255
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252 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 chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr 5:10,610,094...10,650,315 JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,279...62,506,425
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G KRT2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
JBrowse link
G MDM2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,300...39,154,586
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 4:696,355...753,859
Ensembl chr 4:685,456...753,859
JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,776...58,707,953
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 chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:18,048,614...18,052,481 JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,750,091...60,855,287
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr13:23,481,537...23,570,454
Ensembl chr13:23,481,999...23,570,452
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,584
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 chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr14:72,245,526...72,272,948
Ensembl chr14:72,245,600...72,277,049
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,017,784...12,578,953
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 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,816...12,242,637
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 chr12:5,847,170...5,855,791
Ensembl chr12:5,847,170...5,855,583
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 chr15:84,226,953...84,501,320 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 chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:30311386 NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,911,139...9,871,102
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 chr14:109,088,758...109,119,854
Ensembl chr14:109,088,820...109,163,728
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 chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
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 chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
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 chr11:774,090...781,252 JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:18,013,360...18,054,250 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 chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 ISO OMIM NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,756,680...268,788,791
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 chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,838...86,196,010
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 chr 6:167,881,357...167,886,125
Ensembl chr 6:167,881,352...167,886,124
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 chr11:774,090...781,252 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 chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
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 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO OMIM NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
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 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,646
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
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 chr 5:22,435,636...22,519,276 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 chr 3:72,323,958...72,536,564
Ensembl chr 3:72,381,330...72,494,507
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 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566
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 chr12:49,573,050...49,609,232 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 chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO OMIM NCBI chr12:21,014,182...21,022,123 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 chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
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 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chr 2:149,309,482...149,382,286
Ensembl chr 2:149,251,308...149,382,282
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,771
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHGDH phosphoglycerate dehydrogenase ISO OMIM NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,363
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 chr13:27,006,331...27,053,760
Ensembl chr13:27,006,201...27,056,744
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
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 chr 2:513,065...517,962
Ensembl chr 2:513,076...518,187
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 chr 2:513,065...517,962
Ensembl chr 2:513,076...518,187
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 chr13:127,714,857...127,730,628
Ensembl chr13:127,712,767...127,730,657
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 chr13:127,808,599...127,831,081
Ensembl chr13:127,808,599...127,830,717
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
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 chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,138...93,685,197
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 chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,138...93,685,197
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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 2:69,896,116...69,925,194
Ensembl chr 2:69,890,937...69,925,189
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 1:157,953,872...157,999,242
Ensembl chr 1:157,953,870...157,998,842
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 chr11:774,090...781,252 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:6,511...8,055
Ensembl chr MT:6,511...8,055
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 chr12:5,008,534...5,036,278
Ensembl chr12:5,017,443...5,036,261
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 chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,436,771
JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Palmoplantar keratosis ClinVar PMID:25741868 NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,646
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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr11:774,090...781,252 JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,211
JBrowse link
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:17,306,364...17,663,117
Ensembl chr 1:17,306,372...17,662,825
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 chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,201...120,938,430
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 chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
JBrowse link
Parakeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO RGD PMID:15809047 RGD:1600175 NCBI chr12:21,014,182...21,022,123 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 2:103,255,738...103,378,623
Ensembl chr 2:103,255,630...103,378,623
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 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823 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 4:94,861,500...94,913,743
Ensembl chr 4:94,861,694...94,878,921
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 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
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 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
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 chr14:41,357,587...41,371,374
Ensembl chr14:41,357,589...41,373,208
JBrowse link
G MVK mevalonate kinase ISO OMIM NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
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 chr14:42,223,752...42,259,992
Ensembl chr14:42,223,725...42,297,113
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 chr17:62,186,114...62,200,091
Ensembl chr17:62,186,092...62,200,081
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 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,305
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 chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,436,771
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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
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 chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,201...120,938,430
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 chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,436
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 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
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 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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 chr12:59,936,838...59,953,677
Ensembl chr12:59,936,848...59,954,596
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 chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
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 chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
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 chr11:774,090...781,252 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:4,540,846...4,623,831
NCBI chr  Y:3,287,635...3,369,286
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:3,577,487...3,876,142
NCBI chr  Y:2,681,502...2,701,629
JBrowse link
G STS steroid sulfatase ISO OMIM NCBI chr  X:3,926,027...4,076,900
NCBI chr  Y:2,747,102...2,828,322
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:18,013,360...18,054,250 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:18,013,360...18,054,250 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    sensory system disease 4803
      skin disease 2509
        keratosis 173
          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 1
          Sclerotylosis 1
          Trichostasis Spinulosa 0
          Urban Schosser Spohn Syndrome 1
          acquired hyperkeratosis 0
          acrokeratosis verruciformis 1
          actinic keratosis + 4
          cholesteatoma + 21
          erythrokeratodermia variabilis + 7
          hereditary papulotranslucent acrokeratoderma 0
          ichthyosis + 104
          keratosis follicularis + 4
          palmoplantar keratosis + 25
          porokeratosis + 7
          seborrheic keratosis + 3
Path 2
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      nervous system disease 9948
        sensory system disease 4803
          skin disease 2509
            keratosis 173
              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 1
              Sclerotylosis 1
              Trichostasis Spinulosa 0
              Urban Schosser Spohn Syndrome 1
              acquired hyperkeratosis 0
              acrokeratosis verruciformis 1
              actinic keratosis + 4
              cholesteatoma + 21
              erythrokeratodermia variabilis + 7
              hereditary papulotranslucent acrokeratoderma 0
              ichthyosis + 104
              keratosis follicularis + 4
              palmoplantar keratosis + 25
              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.